diff --git a/README.md b/README.md index a18d0e8..45b59f8 100644 --- a/README.md +++ b/README.md @@ -2,28 +2,7 @@ This repository contains a collection of different manual annotations produced within the [Open Targets organisation](https://www.opentargets.org). -## Content -- **Mappings**. Label to ontology mappings of different nature: - - [biosystem](mappings/biosystem). - - Labels of anatomical structures such as tissues, organs or systems are mapped to the [UBERON ontology](https://uberon.github.io). - - Labels of cell lines are mapped to the [Cell Line Ontology](http://www.clo-ontology.org). - - [disease](mappings/disease). Labels of diseases mapped to the [EFO ontology](https://www.ebi.ac.uk/efo/). This directory is pending to be harmonised under a common file (see [#1400](https://github.com/opentargets/platform/issues/1400) for context). - -- **Target Safety annotation**. - Manual curation of experimental data and insights from publications and other well-known sources of target safety and toxicity data, including the Tox21 database. - - The annotation related to `safety_risks.tsv` and `adverse_effects.tsv` is currently being fed to the Platform's pipelines, whereas `experimental_toxicity.tsv` has been discontinued in favour of a new pipeline that processes [ToxCast data files](https://www.epa.gov/chemical-research/toxcast-data-accessing-toxcast-data-and-scenarios-exploring-data). - -- **Gene Burden annotation**. - Manual curation of burden tests from key publications and resources. - - - Schizophrenia Consortium. Associations of 9 genes with schizophrenia. The data is pulled from their downloads page (https://schema.broadinstitute.org/downloads). - - Epi25 Consortium. Associations of 2 genes with epilepsy. The data is pulled from their downloads page (https://epi25.broadinstitute.org/downloads). - - OTAR022 Metabolomics study. Associations of 21 genes with different metabolomics measurements. The data is pulled from 2 sites: - - Table 1 of their manuscript provides the key metrics. - - The sheet named "strongest gene/metabolite" in the Supplementary Table 5 provides annotation of nº samples. - - CKD Publication. Associations of 3 genes with chronic kidney disease. The data is pulled from 2 sites: - - Table 2 of their publication (https://jasn.asnjournals.org/content/jnephrol/30/6/1109.full.pdf?with-ds=yes). - - Supplementary Table 5 provides annotation of nº samples. - - Autism Sequencing Consortium. Associations of 102 genes with autism. The data is pulled from the Supplementary Table 2 in their publication (https://www.sciencedirect.com/science/article/pii/S0092867419313984#mmc2). - - REGENERON. Associations of 497 genes with traits from the UK Biobank. The data has been parsed from the Supplementary Table 2, 3, and 4 of their publication (https://www.nature.com/articles/s41586-021-04103-z) + the mappings done by GWAS Catalog. \ No newline at end of file +See instructions for: +- [Mappings](docs/mappings.md) +- [Gene Burden annotation](docs/gene_burden.md) +- [Target Safety annotation](docs/target_safety.md) \ No newline at end of file diff --git a/docs/gene_burden.md b/docs/gene_burden.md new file mode 100644 index 0000000..2141e09 --- /dev/null +++ b/docs/gene_burden.md @@ -0,0 +1,31 @@ +## Gene Burden annotation + +Manual curation of burden tests from key publications and resources. + +### Schizophrenia Consortium +Associations of 9 genes with schizophrenia. The data is pulled from their downloads page (https://schema.broadinstitute.org/downloads). + +### Epi25 Consortium +Associations of 2 genes with epilepsy. The data is pulled from their downloads page (https://epi25.broadinstitute.org/downloads). + + +### OTAR022 Metabolomics study +Associations of 21 genes with different metabolomics measurements. The data is pulled from 2 sites: + - Table 1 of their manuscript provides the key metrics. + - The sheet named "strongest gene/metabolite" in the Supplementary Table 5 provides annotation of nº samples. + +### CKD Publication +Associations of 3 genes with chronic kidney disease. The data is pulled from 2 locations: + - Table 2 of their publication (https://jasn.asnjournals.org/content/jnephrol/30/6/1109.full.pdf?with-ds=yes). + - Supplementary Table 5 provides annotation of nº samples. +### Autism Sequencing Consortium +Associations of 102 genes with autism. The data is pulled from the Supplementary Table 2 in their publication (https://www.sciencedirect.com/science/article/pii/S0092867419313984#mmc2). + +### REGENERON +Associations of 497 genes with traits from the UK Biobank. The data has been parsed from the Supplementary Table 2, 3, and 4 of their publication (https://www.nature.com/articles/s41586-021-04103-z) + the mappings done by GWAS Catalog. + +### Autism Publication from the SPARK cohort +Associations of 60 genes with autism were identified by analyzing de novo and rare inherited variants from WES and WGS data. The data is pulled from the results of the meta analysis described in the Supplementary Table 9 of their publication (https://www.nature.com/articles/s41588-022-01148-2). Only associations with a p-value < 2.5 × 10−6 are included. + +### Fat distributionn Publication +16 genes associated with fat distribution (BMI-adjusted WHR) were identified by analysing missense variants from WES data. Most of them with a protective direction of effect. The data is pulled from the Table 1 of their publication (https://www.nature.com/articles/s41467-022-32398-7.pdf). Only associations with a p-value < 3.6 × 10−7 are included. \ No newline at end of file diff --git a/docs/mappings.md b/docs/mappings.md new file mode 100644 index 0000000..67c7d62 --- /dev/null +++ b/docs/mappings.md @@ -0,0 +1,7 @@ +## Mappings + +Label to ontology mappings of different nature: + - [biosystem](../mappings/biosystem). + - Labels of anatomical structures such as tissues, organs or systems are mapped to the [UBERON ontology](https://uberon.github.io). + - Labels of cell lines are mapped to the [Cell Line Ontology](http://www.clo-ontology.org). + - [disease](../mappings/disease). Labels of diseases mapped to the [EFO ontology](https://www.ebi.ac.uk/efo/). This directory is pending to be harmonised under a common file (see [#1400](https://github.com/opentargets/platform/issues/1400) for context). \ No newline at end of file diff --git a/docs/target_safety.md b/docs/target_safety.md new file mode 100644 index 0000000..d689bec --- /dev/null +++ b/docs/target_safety.md @@ -0,0 +1,5 @@ +## Target Safety annotation + +Manual curation of experimental data and insights from publications and other well-known sources of target safety and toxicity data, including the Tox21 database. + +The annotation related to `safety_risks.tsv` and `adverse_effects.tsv` is currently being fed to the Platform's pipelines, whereas `experimental_toxicity.tsv` has been discontinued in favour of a new pipeline that processes [ToxCast data files](https://www.epa.gov/chemical-research/toxcast-data-accessing-toxcast-data-and-scenarios-exploring-data). \ No newline at end of file diff --git a/gene_burden/curated_evidence.tsv b/gene_burden/curated_evidence.tsv index ffd1192..1bd6d0f 100644 --- a/gene_burden/curated_evidence.tsv +++ b/gene_burden/curated_evidence.tsv @@ -1,7894 +1,7960 @@ -projectId targetFromSource targetFromSourceId diseaseFromSource diseaseFromSourceMappedId resourceScore pValueMantissa pValueExponent oddsRatio ConfidenceIntervalLower ConfidenceIntervalUpper beta ancestry ancestryId cohortId studyId studySampleSize studyCases studyCasesWithQualifyingVariants allelicRequirements statisticalMethod statisticalMethodOverview literature url -REGENERON TTN Arm predicted mass left (23126) EFO_0004302 7.3e-16 7.3 -16 -0.046 -0.061 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 5843.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Arm predicted mass left (23126) EFO_0004302 2.98e-13 2.98 -13 0.552 0.435 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 92.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SRSF2 Platelet distribution width (30110) EFO_0007984 1.2300000000000002e-21 1.23 -21 0.766 0.635 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 182.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON DENND4B Platelet distribution width (30110) EFO_0007984 4.54e-14 4.54 -14 -0.158 -0.214 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1020.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Platelet distribution width (30110) EFO_0007984 3.0100000000000004e-32 3.01 -32 0.293 0.251 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1779.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GP1BA Platelet distribution width (30110) EFO_0007984 7.36e-44 7.36 -44 0.473 0.415 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 901.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MSH6 ICD10 C54: Malignant neoplasm of corpus uteri EFO_0007532 1.6700000000000002e-21 1.67 -21 25.222 49.01 EUR HANCESTRO_0005 UK Biobank 450k GCST90079608 211679 1515 21.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ASXL1 Platelet distribution width (30110) EFO_0007984 3.11e-18 3.11 -18 0.423 0.346 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 523.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GP1BB Platelet distribution width (30110) EFO_0007984 2.5300000000000003e-21 2.53 -21 1.42 1.177 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 52.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 Platelet distribution width (30110) EFO_0007984 8.52e-17 8.52 -17 0.345 0.279 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 709.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON FAM65C Platelet distribution width (30110) EFO_0007984 9.68e-14 9.68 -14 -0.088 -0.12 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 3213.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TUBB1 Platelet distribution width (30110) EFO_0007984 7.27e-24 7.27 -24 1.26 1.055 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 75.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON CD36 Platelet distribution width (30110) EFO_0007984 8.91e-16 8.91 -16 0.224 0.18 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1621.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CALR Platelet distribution width (30110) EFO_0007984 1.68e-11 1.68 -11 0.924 0.716 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 71.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PLEKHO2 Platelet distribution width (30110) EFO_0007984 5.06e-12 5.06 -12 0.88 0.686 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 81.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 6.53e-227 6.53 -227 -2.689 -2.863 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 98.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 1.04e-103 1.04 -103 -1.922 -2.114 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 1.04e-103 1.04 -103 -1.922 -2.114 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TMPRSS6 Mean corpuscular haemoglobin (30050) EFO_0004527 1.36e-29 1.36 -29 -0.414 -0.501 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 400.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TFRC Mean corpuscular haemoglobin (30050) EFO_0004527 2.44e-14 2.44 -14 -0.187 -0.252 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 717.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CAD Mean corpuscular haemoglobin (30050) EFO_0004527 4.13e-15 4.13 -15 0.597 0.478 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 210.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 1.0900000000000001e-36 1.09 -36 -2.159 -2.555 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 19.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ASXL1 Mean corpuscular haemoglobin (30050) EFO_0004527 6.34e-12 6.34 -12 -0.127 -0.177 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1167.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON RTEL1 Mean corpuscular haemoglobin (30050) EFO_0004527 4.31e-14 4.31 -14 0.454 0.361 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 339.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CHEK2 Mean corpuscular haemoglobin (30050) EFO_0004527 1.68e-12 1.68 -12 -0.068 -0.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 5041.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCB10 Mean corpuscular haemoglobin (30050) EFO_0004527 9.09e-12 9.09 -12 -0.137 -0.192 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 986.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RPS6KB2 Mean corpuscular haemoglobin (30050) EFO_0004527 1.57e-13 1.57 -13 -0.063 -0.086 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 5805.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC4A1 Mean corpuscular haemoglobin (30050) EFO_0004527 1.49e-11 1.49 -11 0.841 0.652 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 83.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 4.45e-15 4.45 -15 -1.548 -2.064 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GMPR Mean corpuscular haemoglobin (30050) EFO_0004527 8.44e-126 8.44 -126 0.378 0.349 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 3789.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 6.53e-227 6.53 -227 -2.689 -2.863 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 98.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TFR2 Mean corpuscular haemoglobin (30050) EFO_0004527 3.3e-40 3.3 -40 0.231 0.202 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 3379.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RGS11 Mean corpuscular haemoglobin (30050) EFO_0004527 7.57e-15 7.57 -15 -0.431 -0.576 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 224.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBA2 Mean corpuscular haemoglobin (30050) EFO_0004527 4.22e-20 4.22 -20 -1.021 -1.299 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 39.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 C79: Secondary malignant neoplasm of other and unspecified sites EFO_0009812 3.97e-26 3.97 -26 4.913 6.599 EUR HANCESTRO_0005 UK Biobank 450k GCST90079629 387728 5376 73.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Trunk fat free mass (23129) EFO_0004995 8.93e-23 8.93 -23 -0.558 -0.698 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 63.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GFPT2 Trunk fat free mass (23129) EFO_0004995 9.59e-12 9.59 -12 -0.051 -0.071 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 2921.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Trunk fat free mass (23129) EFO_0004995 2.5900000000000003e-21 2.59 -21 0.186 0.154 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IRS1 Trunk fat free mass (23129) EFO_0004995 1.9e-25 1.9 -25 -0.405 -0.499 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 140.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PTPRJ Trunk fat free mass (23129) EFO_0004995 1.57e-11 1.57 -11 -0.152 -0.214 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 316.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GHRH Trunk fat free mass (23129) EFO_0004995 1.9e-15 1.9 -15 -0.282 -0.375 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 143.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PRPH2 Eye problems disorders - Macular degeneration (6148) EFO_0009606 5.98e-14 5.98 -14 5.328 8.245 EUR HANCESTRO_0005 UK Biobank 450k GCST90079434 37798 4185 42.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACAN Trunk fat free mass (23129) EFO_0004995 1.62e-19 1.62 -19 -0.372 -0.475 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 115.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Trunk fat free mass (23129) EFO_0004995 1.62e-19 1.62 -19 -0.372 -0.475 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 115.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Trunk fat free mass (23129) EFO_0004995 4.15e-18 4.15 -18 -0.571 -0.737 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 44.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON WNT1 Speed of sound through heel (3146) EFO_0005654 4.74e-14 4.74 -14 -0.324 -0.438 EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 236.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Non cancer illness code self reported - atrial fibrillation/ICD10 I48 EFO_0000275 1.13e-12 1.13 -12 4.527 6.862 EUR HANCESTRO_0005 UK Biobank 450k GCST90077882 329052 3763 36.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON PAPPA2 Trunk fat free mass (23129) EFO_0004995 2.87e-13 2.87 -13 -0.179 -0.245 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 285.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Trunk fat free mass (23129) EFO_0004995 2.76e-25 2.76 -25 -0.093 -0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 2641.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON IGF1R Arm predicted mass right (23122) EFO_0004302 1.13e-12 1.13 -12 -0.075 -0.103 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 1485.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SCUBE3 Arm predicted mass right (23122) EFO_0004302 5.65e-14 5.65 -14 -0.069 -0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 2062.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Arm predicted mass right (23122) EFO_0004302 2.33e-28 2.33 -28 -0.099 -0.121 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 2642.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 Mothers age at death (3526) EFO_0007796 4.29e-29 4.29 -29 -0.273 -0.331 EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 1047.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 Mothers age at death (3526) EFO_0007796 1.05e-18 1.05 -18 -0.085 -0.11 EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 5938.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IRS1 Arm predicted mass right (23122) EFO_0004302 1.2199999999999999e-23 1.22 -23 -0.382 -0.475 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 140.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Arm predicted mass right (23122) EFO_0004302 2.38e-28 2.38 -28 0.309 0.262 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 554.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ADAMTSL4 Forced expiratory volume in 1 second FEV1 (3063) EFO_0004314 2.72e-12 2.72 -12 -0.076 -0.106 EUR HANCESTRO_0005 UK Biobank 450k GCST90079017 395451 395451 2134.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ABCG5 Cholesterol (30690) EFO_0004574 1.59e-11 1.59 -11 0.36 0.279 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 494.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCA1 Cholesterol (30690) EFO_0004574 8.79e-15 8.79 -15 -0.202 -0.27 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 695.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Cholesterol (30690) EFO_0004574 1.6e-43 1.6 -43 0.387 0.339 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 1452.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANGPTL3 Cholesterol (30690) EFO_0004574 2.11e-11 2.11 -11 -0.32 -0.452 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 186.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANGPTL3 Cholesterol (30690) EFO_0004574 1.9899999999999998e-62 1.99 -62 -0.459 -0.521 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 867.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LIPC Cholesterol (30690) EFO_0004574 3.38e-15 3.38 -15 0.149 0.119 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 3665.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APOB Cholesterol (30690) EFO_0004574 1.6599999999999999e-68 1.66 -68 -1.361 -1.533 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 110.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON ASGR1 Cholesterol (30690) EFO_0004574 1.02e-11 1.02 -11 -0.16 -0.225 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 765.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ALB Cholesterol (30690) EFO_0004574 1.39e-16 1.39 -16 0.772 0.624 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 147.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON NPC1L1 Cholesterol (30690) EFO_0004574 2.09e-18 2.09 -18 -0.101 -0.131 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 3794.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SCARB1 Cholesterol (30690) EFO_0004574 2.25e-22 2.25 -22 0.225 0.187 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 2271.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PROS1 ICD10 I26.9: Pulmonary embolism without acute cor pulmonale MONDO_0004596 5.6e-16 5.6 -16 6.081 9.414 EUR HANCESTRO_0005 UK Biobank 450k GCST90079983 387510 5096 35.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON JAK2 Platelet count (30080) EFO_0004309 1.68e-15 1.68 -15 0.611 0.491 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 202.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON TET2 Platelet count (30080) EFO_0004309 1.64e-17 1.64 -17 -0.136 -0.176 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1779.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GFI1B Platelet count (30080) EFO_0004309 8.29e-53 8.29 -53 -0.365 -0.418 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1027.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MPL Platelet count (30080) EFO_0004309 1.4300000000000002e-35 1.43 -35 0.479 0.414 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 699.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BAK1 Platelet count (30080) EFO_0004309 2.37e-19 2.37 -19 0.326 0.268 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 863.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GFI1B Platelet count (30080) EFO_0004309 4.33e-22 4.33 -22 -0.557 -0.699 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 177.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ABCB4 Alanine aminotransferase (30620) EFO_0004735 2.88e-17 2.88 -17 0.077 0.063 EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 15754.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ABCB4 Alanine aminotransferase (30620) EFO_0004735 4.01e-17 4.01 -17 0.39 0.316 EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 572.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SH2B3 Platelet count (30080) EFO_0004309 1.55e-78 1.55 -78 0.402 0.364 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 2047.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GP1BA Platelet count (30080) EFO_0004309 2.4699999999999998e-46 2.47 -46 -0.358 -0.415 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 900.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LY75 Platelet count (30080) EFO_0004309 9.08e-17 9.08 -17 0.158 0.128 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 3340.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Platelet count (30080) EFO_0004309 5.41e-12 5.41 -12 -0.161 -0.226 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 709.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON GP1BB Platelet count (30080) EFO_0004309 2.85e-44 2.85 -44 -1.447 -1.683 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 52.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TUBB1 Platelet count (30080) EFO_0004309 8.78e-135 8.78 -135 -0.373 -0.405 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 2828.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TUBB1 Platelet count (30080) EFO_0004309 1.4800000000000001e-105 1.48 -105 -0.881 -0.968 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 382.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TADA1 Platelet count (30080) EFO_0004309 2.17e-13 2.17 -13 -0.256 -0.35 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 339.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Platelet count (30080) EFO_0004309 5.89e-12 5.89 -12 -0.161 -0.225 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 711.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON TET2 ICD10 D70: Neutropenia MONDO_0001475 4.42e-19 4.42 -19 3.546 4.683 EUR HANCESTRO_0005 UK Biobank 450k GCST90079716 387075 4407 75.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TECTA Hearing difficulty problems - Yes (2247) EFO_0007616 4.36e-15 4.36 -15 1.841 2.144 EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 309.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TECTA Hearing difficulty problems - Yes (2247) EFO_0007616 6.77e-17 6.77 -17 1.393 1.506 EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 1060.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON KLHDC7B Hearing difficulty problems background noise - Yes (2257) EFO_0007616 2.97e-18 2.97 -18 1.658 1.857 EUR HANCESTRO_0005 UK Biobank 450k GCST90078878 422872 167296 644.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON EP400 Hand grip strength left (46) EFO_0006941 5.26e-15 5.26 -15 -0.333 -0.444 EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 139.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON APOB ICD10 E78: Disorders of lipoprotein metabolism and other lipidemias Orphanet_79062 4.42e-15 4.42 -15 0.29 0.396 EUR HANCESTRO_0005 UK Biobank 450k GCST90079768 372199 51365 30.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APOB ICD10 E78: Disorders of lipoprotein metabolism and other lipidemias Orphanet_79062 4.42e-15 4.42 -15 0.29 0.396 EUR HANCESTRO_0005 UK Biobank 450k GCST90079768 372199 51365 30.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TNFSF13 Total protein (30860) EFO_0004536 1.42e-13 1.42 -13 -0.473 -0.644 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 118.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TNFRSF13B Total protein (30860) EFO_0004536 1.4500000000000001e-100 1.45 -100 -0.229 -0.252 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 6448.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FCGRT Total protein (30860) EFO_0004536 1.56e-15 1.56 -15 -1.162 -1.541 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 24.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON LDLR ICD10 Z82.4: Family history of ischemic heart disease and other diseases of the circulatory system EFO_0000493 2.09e-11 2.09 -11 1.598 1.833 EUR HANCESTRO_0005 UK Biobank 450k GCST90081337 340245 43852 284.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON STAB1 Total protein (30860) EFO_0004536 4.64e-14 4.64 -14 0.16 0.127 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 3191.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MYD88 ICD10 C91: Lymphoid leukemia EFO_0004289 2.75e-20 2.75 -20 56.767 133.856 EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 14.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 Type of Cancer: Malignant neoplasm of breast (40006) EFO_0003869 2.2e-15 2.2 -15 2.161 2.615 EUR HANCESTRO_0005 UK Biobank 450k GCST90079108 41005 12472 223.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 Type of Cancer: Malignant neoplasm of breast (40006) EFO_0003869 7.49e-12 7.49 -12 3.422 4.866 EUR HANCESTRO_0005 UK Biobank 450k GCST90079108 41005 12472 79.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANKRD12 Index of Multiple Deprivation England (26410) EFO_0009711 9.19e-13 9.19 -13 0.534 0.419 EUR HANCESTRO_0005 UK Biobank 450k GCST90078952 369491 369491 273.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PRSS56 3mm weak meridian left (5096) EFO_0004731 7.74e-12 7.74 -12 0.578 0.449 EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 187.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IFT140 ICD10 N28.1: Cyst of kidney, acquired EFO_0009690 1.49e-11 1.49 -11 10.196 20.012 EUR HANCESTRO_0005 UK Biobank 450k GCST90080592 387926 1824 16.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANKRD12 Index of Multiple Deprivation England (26410) EFO_0009711 9.19e-13 9.19 -13 0.534 0.419 EUR HANCESTRO_0005 UK Biobank 450k GCST90078952 369491 369491 273.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MEPE Heel bone mineral density BMD right (4124) EFO_0009270 3.410000000000001e-21 3.41 -21 -0.241 -0.304 EUR HANCESTRO_0005 UK Biobank 450k GCST90079158 166266 166266 746.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC1R Skin colour - Very fair (1717) EFO_0003784 5.39e-19 5.39 -19 3.343 4.361 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 92.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC45A2 Skin colour - Very fair (1717) EFO_0003784 1.94e-37 1.94 -37 2.598 3.007 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 292.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PRSS56 3mm weak meridian left (5096) EFO_0004731 7.74e-12 7.74 -12 0.578 0.449 EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 187.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MEPE Heel bone mineral density BMD right (4124) EFO_0009270 2.82e-23 2.82 -23 -0.275 -0.342 EUR HANCESTRO_0005 UK Biobank 450k GCST90079158 166266 166266 651.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON OCA2 Skin colour - Very fair (1717) EFO_0003784 1.1e-17 1.1 -17 6.172 9.361 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 45.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC45A2 Skin colour - Very fair (1717) EFO_0003784 4.4e-67 4.4 -67 2.547 2.831 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 554.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANKRD12 Usual walking pace - Slow pace (924) EFO_0008002 1.43e-11 1.43 -11 3.013 4.149 EUR HANCESTRO_0005 UK Biobank 450k GCST90079509 428255 34629 60.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APC ICD10 D12.6: Benign neoplasm of colon, unspecified EFO_0002422 3.66e-30 3.66 -30 47.964 93.242 EUR HANCESTRO_0005 UK Biobank 450k GCST90079659 387930 2672 24.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 Treatment or Medication Code - doxazosin EFO_0007010 1.14e-14 1.14 -14 14.791 29.307 EUR HANCESTRO_0005 UK Biobank 450k GCST90078093 320758 5111 18.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON ANKRD12 Usual walking pace - Slow pace (924) EFO_0008002 1.43e-11 1.43 -11 3.013 4.149 EUR HANCESTRO_0005 UK Biobank 450k GCST90079509 428255 34629 60.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 Mean platelet thrombocyte volume (30100) EFO_0004584 1.08e-15 1.08 -15 0.199 0.16 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1794.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC12A9 Hair colour natural before greying - Blonde (1747) EFO_0007822 1.8899999999999997e-23 1.89 -23 2.768 3.381 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 172.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CKAP2L Mean platelet thrombocyte volume (30100) EFO_0004584 4.32e-17 4.32 -17 -0.188 -0.245 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 841.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TYR Hair colour natural before greying - Blonde (1747) EFO_0007822 1.0199999999999999e-23 1.02 -23 2.107 2.437 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 290.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TUBB1 Mean platelet thrombocyte volume (30100) EFO_0004584 1.8199999999999997e-95 1.82 -95 0.976 0.892 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 382.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON DOCK8 Mean platelet thrombocyte volume (30100) EFO_0004584 2.86e-24 2.86 -24 -0.053 -0.066 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 17347.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PTPRJ Mean platelet thrombocyte volume (30100) EFO_0004584 7.23e-25 7.23 -25 -0.395 -0.488 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 317.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Weight (21002) EFO_0004338 7.97e-37 7.97 -37 0.145 0.126 EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 6811.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GP1BB Mean platelet thrombocyte volume (30100) EFO_0004584 1.67e-58 1.67 -58 2.104 1.876 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 52.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON KIAA1109 Mean platelet thrombocyte volume (30100) EFO_0004584 6.16e-19 6.16 -19 -0.194 -0.249 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 900.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ARHGAP18 Mean platelet thrombocyte volume (30100) EFO_0004584 1.84e-11 1.84 -11 0.419 0.325 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 302.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ITGA2B Mean platelet thrombocyte volume (30100) EFO_0004584 2.02e-13 2.02 -13 0.397 0.314 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 393.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IQGAP2 Mean platelet thrombocyte volume (30100) EFO_0004584 4.71e-198 4.71 -198 0.717 0.673 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1430.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ELOVL7 Mean platelet thrombocyte volume (30100) EFO_0004584 5.3800000000000005e-21 5.38 -21 0.253 0.209 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1448.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MLXIP Mean platelet thrombocyte volume (30100) EFO_0004584 2.17e-15 2.17 -15 0.101 0.081 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 7327.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MEN1 ICD10 E21.3: Hyperparathyroidism, unspecified EFO_0008506 4.85e-12 4.85 -12 298.59 1503.59 EUR HANCESTRO_0005 UK Biobank 450k GCST90079752 387820 512 5.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Mean platelet thrombocyte volume (30100) EFO_0004584 5.08e-17 5.08 -17 0.223 0.18 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1532.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON CKAP2L Mean platelet thrombocyte volume (30100) EFO_0004584 1.68e-17 1.68 -17 -0.199 -0.258 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 780.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC12A9 Hair colour natural before greying - Blonde (1747) EFO_0007822 1.5e-14 1.5 -14 2.684 3.452 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 108.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC12A9 Hair colour natural before greying - Blonde (1747) EFO_0007822 2.17e-15 2.17 -15 2.848 3.689 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 104.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MEN1 ICD10 E21.3: Hyperparathyroidism, unspecified EFO_0008506 4.85e-12 4.85 -12 298.59 1503.59 EUR HANCESTRO_0005 UK Biobank 450k GCST90079752 387820 512 5.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ARHGAP18 Mean platelet thrombocyte volume (30100) EFO_0004584 1.84e-11 1.84 -11 0.419 0.325 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 302.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PTPRJ Mean platelet thrombocyte volume (30100) EFO_0004584 7.23e-25 7.23 -25 -0.395 -0.488 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 317.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CTSD Aspartate aminotransferase (30650) EFO_0004736 1.76e-11 1.76 -11 0.275 0.213 EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 825.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GCK T2D New Strict CC (RGC) MONDO_0005148 5.08e-20 5.08 -20 34.58 73.791 EUR HANCESTRO_0005 UK Biobank 450k GCST90081517 352271 11970 20.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR ICD10 I25.1: Atherosclerotic heart disease of native coronary artery EFO_0001645 5.14e-18 5.14 -18 4.142 5.716 EUR HANCESTRO_0005 UK Biobank 450k GCST90079978 387911 23129 67.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GOT1 Aspartate aminotransferase (30650) EFO_0004736 1.05e-127 1.05 -127 -1.876 -2.042 EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 117.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Whole body water mass (23102) EFO_0009805 3.17e-68 3.17 -68 0.135 0.121 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 6712.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Whole body water mass (23102) EFO_0009805 1.56e-11 1.56 -11 0.798 0.618 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 38.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON PAPPA2 Whole body water mass (23102) EFO_0009805 1.1e-15 1.1 -15 -0.085 -0.113 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 1621.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Whole body water mass (23102) EFO_0009805 5.8e-17 5.8 -17 -0.048 -0.063 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 5845.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACAN Whole body water mass (23102) EFO_0009805 1.94e-19 1.94 -19 -0.371 -0.475 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 115.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Whole body water mass (23102) EFO_0009805 1.07e-26 1.07 -26 0.206 0.174 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EGFL8 ICD10 L40: Psoriasis EFO_0000676 5.43e-19 5.43 -19 2.354 2.843 EUR HANCESTRO_0005 UK Biobank 450k GCST90080349 383252 5629 144.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Whole body water mass (23102) EFO_0009805 9.86e-22 9.86 -22 -0.542 -0.681 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 63.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON IGF1R Whole body water mass (23102) EFO_0009805 1.03e-20 1.03 -20 -0.306 -0.387 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 185.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON SCUBE3 Whole body water mass (23102) EFO_0009805 8.07e-14 8.07 -14 -0.069 -0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 2062.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC34A3 Urea (30670) EFO_0009795 6.09e-15 6.09 -15 0.152 0.121 EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 3538.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PRPSAP1 Urate (30880) EFO_0004531 1.04e-12 1.04 -12 0.216 0.169 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 1085.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CLDN10 Urea (30670) EFO_0009795 2.03e-14 2.03 -14 0.489 0.389 EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 328.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GCK TAG ProbableT2D (RGC) MONDO_0005148 1.91e-14 1.91 -14 18.15 38.117 EUR HANCESTRO_0005 UK Biobank 450k GCST90081526 426342 17719 18.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC22A12 Urate (30880) EFO_0004531 7.2e-16 7.2 -16 -0.788 -1.041 AFR HANCESTRO_0010 UK Biobank 450k 8534 8534 43.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HNF1A TAG ProbableT2D (RGC) MONDO_0005148 1.15e-11 1.15 -11 7.193 12.716 EUR HANCESTRO_0005 UK Biobank 450k GCST90081526 426342 17719 23.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC22A12 Urate (30880) EFO_0004531 7.16e-26 7.16 -26 -0.699 -0.859 SAS HANCESTRO_0006 UK Biobank 450k 9833 9833 106.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 Urea (30670) EFO_0009795 8.55e-33 8.55 -33 0.806 0.692 EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 252.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON COL4A4 Urate (30880) EFO_0004531 1.02e-14 1.02 -14 0.291 0.232 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 683.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON COL4A4 Urate (30880) EFO_0004531 1.02e-14 1.02 -14 0.291 0.232 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 683.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON XDH Urate (30880) EFO_0004531 5.53e-12 5.53 -12 -0.045 -0.063 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 7484.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CUBN Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 5.61e-20 5.61 -20 0.147 0.121 EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 5449.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TSHR Non cancer illness code self reported - hypothyroidism myxoedema/ICD10 E03 EFO_1001055 2.52e-13 2.52 -13 3.018 4.057 EUR HANCESTRO_0005 UK Biobank 450k GCST90077731 329052 18362 71.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 Y43.3: Adverse effects in the therapeutic use of other antineoplastic drugs (Y43.3) EFO_0000546 1.38e-13 1.38 -13 4.304 6.336 EUR HANCESTRO_0005 UK Biobank 450k GCST90081150 387930 2845 40.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TSHR Non cancer illness code self reported - hypothyroidism myxoedema/ICD10 E03 EFO_0004705 1.45e-20 1.45 -20 2.358 2.825 EUR HANCESTRO_0005 UK Biobank 450k GCST90077731 329052 18362 176.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TSHR Non cancer illness code self reported - hypothyroidism myxoedema/ICD10 E03 EFO_1001055 1.54e-11 1.54 -11 2.161 2.703 EUR HANCESTRO_0005 UK Biobank 450k GCST90077731 329052 18362 111.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 Ankle spacing width right (4119) EFO_0004324 1.26e-13 1.26 -13 0.623 0.493 EUR HANCESTRO_0005 UK Biobank 450k GCST90079154 166358 166358 151.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Leg predicted mass left (23118) EFO_0004302 1e-13 10.0 -14 -0.298 -0.405 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 115.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Leg predicted mass left (23118) EFO_0004302 2.44e-12 2.44 -12 0.418 0.327 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 157.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IGFALS Sitting height (20015) EFO_0011011 1.3e-12 1.3 -12 -0.076 -0.105 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1996.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Leg predicted mass left (23118) EFO_0004302 3.9e-13 3.9 -13 0.561 0.442 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 92.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Sitting height (20015) EFO_0011011 3.84e-18 3.84 -18 -0.058 -0.075 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 5952.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Leg predicted mass left (23118) EFO_0004302 1.48e-50 1.48 -50 0.121 0.107 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 6709.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NPR2 Sitting height (20015) EFO_0011011 8.200000000000001e-22 8.2 -22 -0.139 -0.174 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1332.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PDE3B Sitting height (20015) EFO_0011011 5.290000000000001e-21 5.29 -21 0.164 0.136 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 2097.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PIEZO1 Sitting height (20015) EFO_0011011 2.68e-18 2.68 -18 -0.049 -0.063 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 8571.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON COL1A1 Sitting height (20015) EFO_0011011 7.47e-15 7.47 -15 -0.595 -0.795 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 42.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SPSB3 Leg predicted mass left (23118) EFO_0004302 7.57e-17 7.57 -17 -0.046 -0.061 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 6512.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Sitting height (20015) EFO_0011011 3.84e-18 3.84 -18 -0.058 -0.075 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 5952.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON FIBIN Sitting height (20015) EFO_0011011 1.81e-11 1.81 -11 -0.046 -0.065 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 4759.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Sitting height (20015) EFO_0011011 2.3700000000000002e-36 2.37 -36 -1.062 -1.258 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 44.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ZFAT Sitting height (20015) EFO_0011011 1.11e-28 1.11 -28 0.215 0.183 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1622.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Leg predicted mass left (23118) EFO_0004302 1.88e-13 1.88 -13 0.34 0.268 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 257.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PIEZO1 Sitting height (20015) EFO_0011011 3.29e-17 3.29 -17 -0.142 -0.185 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 911.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PAPPA2 Sitting height (20015) EFO_0011011 2.8e-15 2.8 -15 -0.097 -0.129 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1656.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB ICD10 D56: Thalassemia 1.2999999999999999e-46 1.3 -46 63.155 111.312 SAS HANCESTRO_0006 UK Biobank 450k 9238 112 43.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Sitting height (20015) EFO_0011011 2.45e-20 2.45 -20 -0.353 -0.448 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 187.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON SMAD6 Sitting height (20015) EFO_0011011 1.45e-12 1.45 -12 0.151 0.118 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1584.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IRS1 Sitting height (20015) EFO_0011011 7.94e-16 7.94 -16 -0.337 -0.445 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 145.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SCUBE3 Sitting height (20015) EFO_0011011 2.04e-12 2.04 -12 -0.307 -0.426 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 121.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON NRK Sitting height (20015) EFO_0011011 3.39e-13 3.39 -13 0.323 0.254 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 259.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SMAD6 Sitting height (20015) EFO_0011011 1.45e-12 1.45 -12 0.151 0.118 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1584.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGF1R Leg predicted mass left (23118) EFO_0004302 8.35e-13 8.35 -13 -0.079 -0.109 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 1485.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 Sitting height (20015) EFO_0011011 2.81e-12 2.81 -12 0.197 0.154 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 906.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON NRK Sitting height (20015) EFO_0011011 4.47e-13 4.47 -13 0.437 0.344 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 129.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON IGF1R Sitting height (20015) EFO_0011011 2.15e-18 2.15 -18 -0.116 -0.15 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1506.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MSH2 ICD10 Z12.1: Encounter for screening for malignant neoplasm of intestinal tract EFO_0004542 7.39e-16 7.39 -16 10.348 18.261 EUR HANCESTRO_0005 UK Biobank 450k GCST90081207 387867 8319 24.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MSH2 ICD10 Z12.1: Encounter for screening for malignant neoplasm of intestinal tract EFO_0004542 3.77e-17 3.77 -17 12.945 23.495 EUR HANCESTRO_0005 UK Biobank 450k GCST90081207 387867 8319 23.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MSH2 ICD10 Z08: Encounter for follow-up examination after completed treatment for malignant neoplasm EFO_0004542 1.52e-14 1.52 -14 37.798 95.438 EUR HANCESTRO_0005 UK Biobank 450k GCST90081200 387917 6079 12.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON MSH2 ICD10 Z08: Encounter for follow-up examination after completed treatment for malignant neoplasm EFO_0004542 9.44e-12 9.44 -12 6.264 10.617 EUR HANCESTRO_0005 UK Biobank 450k GCST90081200 387917 6079 24.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 1.55e-29 1.55 -29 13.396 21.023 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 43.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SCUBE3 Arm fat free mass left (23125) EFO_0004995 7.48e-13 7.48 -13 -0.066 -0.091 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 2062.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R Arm fat free mass left (23125) EFO_0004995 1.27e-17 1.27 -17 -0.12 -0.156 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 995.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GMPR Mean corpuscular volume (30040) EFO_0004526 5.5099999999999995e-93 5.51 -93 0.328 0.299 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 3789.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MED17 Mean corpuscular volume (30040) EFO_0004526 8.03e-15 8.03 -15 -0.328 -0.439 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 243.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON POLE Mean corpuscular volume (30040) EFO_0004526 7.510000000000001e-21 7.51 -21 0.38 0.314 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 689.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CHTF18 Mean corpuscular volume (30040) EFO_0004526 3.3e-12 3.3 -12 0.096 0.075 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 6785.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NPC1 Mean corpuscular volume (30040) EFO_0004526 1.88e-12 1.88 -12 -0.091 -0.125 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 2745.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON KLF1 Mean corpuscular volume (30040) EFO_0004526 3.02e-85 3.02 -85 -0.984 -1.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 250.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CHEK2 Mean corpuscular volume (30040) EFO_0004526 2.02e-12 2.02 -12 -0.068 -0.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 5041.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IRS1 Arm fat free mass left (23125) EFO_0004995 1.24e-19 1.24 -19 -0.347 -0.442 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 140.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Arm fat free mass left (23125) EFO_0004995 1.5500000000000002e-26 1.55 -26 0.308 0.261 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 554.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PIEZO1 Arm fat free mass left (23125) EFO_0004995 1.83e-11 1.83 -11 -0.03 -0.043 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 8424.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean corpuscular volume (30040) EFO_0004526 4.71e-17 4.71 -17 -1.715 -2.237 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean corpuscular volume (30040) EFO_0004526 4.71e-17 4.71 -17 -1.715 -2.237 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBA2 Mean corpuscular volume (30040) EFO_0004526 1.13e-20 1.13 -20 -1.04 -1.317 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 39.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ATR Mean corpuscular volume (30040) EFO_0004526 8.91e-16 8.91 -16 -0.088 -0.116 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 3756.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RTEL1 Mean corpuscular volume (30040) EFO_0004526 1.75e-20 1.75 -20 0.254 0.21 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1520.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TMPRSS6 Mean corpuscular volume (30040) EFO_0004526 1.96e-38 1.96 -38 -0.513 -0.604 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 361.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON OR51V1 Mean corpuscular volume (30040) EFO_0004526 1.43e-22 1.43 -22 -0.944 -1.181 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 75.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Arm fat free mass left (23125) EFO_0004995 1.15e-12 1.15 -12 0.371 0.291 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 197.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBQ1 Mean corpuscular volume (30040) EFO_0004526 1.2e-19 1.2 -19 -0.542 -0.692 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 233.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Arm fat free mass left (23125) EFO_0004995 1.73e-13 1.73 -13 0.335 0.264 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 257.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SF3B1 Mean corpuscular volume (30040) EFO_0004526 1.39e-20 1.39 -20 0.501 0.413 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 394.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Y43: Adverse effects in the therapeutic use of primarily systemic agents (Y43) EFO_0000546 1.46e-13 1.46 -13 4.406 6.528 EUR HANCESTRO_0005 UK Biobank 450k GCST90081151 387930 3135 39.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 Mother still alive - Yes (1835) EFO_0007796 6.18e-14 6.18 -14 0.617 0.7 EUR HANCESTRO_0005 UK Biobank 450k GCST90077615 423687 167942 491.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON E2F8 Mean corpuscular volume (30040) EFO_0004526 2.49e-16 2.49 -16 0.541 0.437 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 273.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 Mother still alive - Yes (1835) EFO_0007796 5.37e-19 5.37 -19 0.574 0.648 EUR HANCESTRO_0005 UK Biobank 450k GCST90077615 423687 167942 495.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Arm fat free mass left (23125) EFO_0004995 1.73e-13 1.73 -13 0.335 0.264 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 257.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN ICD10 I50.0: Congestive heart failure (I50.0) EFO_0000373 1.79e-20 1.79 -20 3.095 3.93 EUR HANCESTRO_0005 UK Biobank 450k GCST90080020 387930 3182 99.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN ICD10 I50.0: Congestive heart failure (I50.0) EFO_0000373 9.48e-17 9.48 -17 5.693 8.579 EUR HANCESTRO_0005 UK Biobank 450k GCST90080020 387930 3182 39.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON APC ICD10 D12.8: Benign neoplasm of rectum EFO_0002422 1.01e-12 1.01 -12 16.669 36.126 EUR HANCESTRO_0005 UK Biobank 450k GCST90079661 387930 4111 14.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOC3 LipidLowering Med (RGC) EFO_0007010 7.56e-16 7.56 -16 0.585 0.667 EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 282.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Pulse rate (4194) EFO_0004326 6.85e-14 6.85 -14 0.191 0.151 EUR HANCESTRO_0005 UK Biobank 450k GCST90079160 173103 173103 2342.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR LipidLowering Med (RGC) EFO_0007010 5.52e-94 5.52 -94 3.824 4.346 EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 590.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON COL1A1 Non cancer illness code self reported - bone disorder EFO_0004260 8.59e-17 8.59 -17 175.994 594.696 EUR HANCESTRO_0005 UK Biobank 450k GCST90077769 331754 988 9.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON WNT1 Non cancer illness code self reported - osteoporosis EFO_0003882 1.47e-11 1.47 -11 5.102 8.188 EUR HANCESTRO_0005 UK Biobank 450k GCST90077779 331754 7730 30.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Pulse rate (4194) EFO_0004326 8.489999999999999e-23 8.49 -23 0.354 0.295 EUR HANCESTRO_0005 UK Biobank 450k GCST90079160 173103 173103 1053.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SEC23B Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.86e-23 2.86 -23 0.37 0.309 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 880.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TFR2 Red blood cell erythrocyte distribution width (30070) EFO_0009188 7.67e-18 7.67 -18 -0.106 -0.137 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3379.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC12A7 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.79e-24 6.79 -24 -0.126 -0.156 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3620.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON POLE Red blood cell erythrocyte distribution width (30070) EFO_0009188 7.84e-13 7.84 -13 0.211 0.165 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1600.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON KLF1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 4.72e-111 4.72 -111 1.423 1.309 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 250.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PCSK9 Apolipoprotein B (30640) EFO_0004615 2.77e-38 2.77 -38 -0.612 -0.721 AFR HANCESTRO_0010 UK Biobank 450k 8474 8474 308.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.63e-78 2.63 -78 0.559 0.506 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1167.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TNFRSF13B Interpolated Age of participant when operation took place (20011) EFO_0004847 2.36e-19 2.36 -19 -0.085 -0.109 EUR HANCESTRO_0005 UK Biobank 450k GCST90078244 346023 346023 6087.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ALB Apolipoprotein B (30640) EFO_0004615 4.1e-25 4.1 -25 0.929 0.781 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 146.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ASXL1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.19e-16 6.19 -16 0.677 0.545 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 187.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.75e-114 1.75 -114 2.307 2.124 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 98.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SCARB1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.89e-14 6.89 -14 0.182 0.144 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 2314.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON KLF1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.1899999999999995e-30 5.19 -30 1.239 1.057 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 99.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SF3B1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.23e-19 6.23 -19 0.505 0.413 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 394.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 Monocyte count (30130) EFO_0005091 2.69e-23 2.69 -23 0.312 0.261 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 1165.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON FLT3 Monocyte count (30130) EFO_0005091 2.25e-14 2.25 -14 0.436 0.347 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 388.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PCSK9 Apolipoprotein B (30640) EFO_0004615 5.3400000000000005e-185 5.34 -185 -0.728 -0.78 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 1171.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANGPTL3 Apolipoprotein B (30640) EFO_0004615 1.7e-11 1.7 -11 -0.149 -0.21 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 865.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC4A1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.71e-13 2.71 -13 1.678 1.323 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 26.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON KLF1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.36e-90 2.36 -90 1.096 0.999 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 348.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HSCB Red blood cell erythrocyte distribution width (30070) EFO_0009188 4.65e-15 4.65 -15 0.178 0.142 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 2603.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GIGYF1 Apolipoprotein B (30640) EFO_0004615 2.94e-14 2.94 -14 -0.417 -0.562 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 152.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CD36 Red blood cell erythrocyte distribution width (30070) EFO_0009188 3.76e-22 3.76 -22 0.268 0.223 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1621.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CD36 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.47e-29 1.47 -29 0.206 0.175 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3612.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RBL1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 7.99e-15 7.99 -15 0.267 0.214 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1122.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 8.03e-20 8.03 -20 10.366 17.141 EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 30.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 2.09e-15 2.09 -15 6.36 10.043 EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 32.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON FLG Age hay fever rhinitis or eczema diagnosed (3761) EFO_0004847 1.7999999999999998e-35 1.8 -35 -0.179 -0.213 EUR HANCESTRO_0005 UK Biobank 450k GCST90079072 88602 88602 3170.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 2.41e-13 2.41 -13 4.878 7.454 EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 35.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON FLG Age hay fever rhinitis or eczema diagnosed (3761) EFO_0003956 6.22e-20 6.22 -20 -0.176 -0.224 EUR HANCESTRO_0005 UK Biobank 450k GCST90079072 88602 88602 1529.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SH2B3 Haemoglobin concentration (30020) EFO_0004509 3.48e-13 3.48 -13 0.153 0.12 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 2047.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MAS1 Lipoprotein A (30790) EFO_0006925 1.54e-11 1.54 -11 0.364 0.282 EUR HANCESTRO_0005 UK Biobank 450k GCST90079034 329317 329317 573.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Eosinophil count (30150) EFO_0004842 4.24e-57 4.24 -57 -0.305 -0.348 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 1791.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EGLN1 Haemoglobin concentration (30020) EFO_0004509 2.52e-15 2.52 -15 0.802 0.643 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 85.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACO1 Haemoglobin concentration (30020) EFO_0004509 2.9400000000000003e-21 2.94 -21 0.19 0.157 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 2032.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON EGLN1 Haemoglobin concentration (30020) EFO_0004509 2.52e-15 2.52 -15 0.802 0.643 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 85.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Haemoglobin concentration (30020) EFO_0004509 7.89e-12 7.89 -12 -0.945 -1.325 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Eosinophil count (30150) EFO_0004842 1.14e-51 1.14 -51 -0.311 -0.357 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 1529.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON EGLN2 Haemoglobin concentration (30020) EFO_0004509 7.89e-18 7.89 -18 0.241 0.196 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1072.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SF3B1 Haemoglobin concentration (30020) EFO_0004509 1.64e-11 1.64 -11 -0.18 -0.254 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 394.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON KLF1 Haemoglobin concentration (30020) EFO_0004509 1.39e-14 1.39 -14 -0.23 -0.309 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 348.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EGLN1 Haemoglobin concentration (30020) EFO_0004509 3.33e-17 3.33 -17 0.899 0.73 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 75.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON KLF1 Haemoglobin concentration (30020) EFO_0004509 1.88e-16 1.88 -16 -0.297 -0.389 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 250.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SH2B3 Eosinophil count (30150) EFO_0004842 4.68e-15 4.68 -15 0.2 0.16 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 2045.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Haemoglobin concentration (30020) EFO_0004509 9.84e-13 9.84 -13 -0.092 -0.126 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1794.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SH2B3 Platelet crit (30090) EFO_0007985 3.13e-12 3.13 -12 0.534 0.416 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 215.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CHEK2 Platelet crit (30090) EFO_0007985 5.370000000000001e-59 5.37 -59 0.2 0.178 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 6987.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GP1BB Platelet crit (30090) EFO_0007985 1.46e-15 1.46 -15 -0.728 -0.965 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 52.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON THPO Platelet crit (30090) EFO_0007985 2.33e-12 2.33 -12 -0.182 -0.253 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 589.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BAK1 Platelet crit (30090) EFO_0007985 2.82e-12 2.82 -12 0.611 0.477 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 165.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SH2B3 Platelet crit (30090) EFO_0007985 3.13e-12 3.13 -12 0.534 0.416 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 215.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ITGB3 Platelet crit (30090) EFO_0007985 1.23e-12 1.23 -12 -0.123 -0.17 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 1329.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CALR Platelet crit (30090) EFO_0007985 1.25e-19 1.25 -19 0.507 0.417 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 361.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LY75-CD302 Platelet crit (30090) EFO_0007985 1.82e-28 1.82 -28 0.191 0.162 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 3689.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IL33 Atopy CC (RGC) EFO_0002686 7.47e-13 7.47 -13 0.699 0.771 EUR HANCESTRO_0005 UK Biobank 450k GCST90081463 359926 46691 415.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 ICD10 I12.0: Hypertensive chronic kidney disease with stage 5 chronic kidney disease or end stage renal disease MONDO_0024633 2.72e-24 2.72 -24 26.26 49.3 EUR HANCESTRO_0005 UK Biobank 450k GCST90079963 387930 1504 23.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Trunk fat mass (23128) EFO_0005409 1.75e-19 1.75 -19 0.297 0.244 EUR HANCESTRO_0005 UK Biobank 450k GCST90078931 423433 423433 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR ICD10 I25: Chronic ischemic heart disease EFO_0003777 1.12e-24 1.12 -24 2.208 2.568 EUR HANCESTRO_0005 UK Biobank 450k GCST90079982 387110 32706 263.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK Non cancer illness code self reported - diabetes EFO_0000400 3.84e-16 3.84 -16 4.075 5.714 EUR HANCESTRO_0005 UK Biobank 450k GCST90077722 331754 17927 58.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PROS1 VTE Composite CC (RGC) EFO_0004286 4.56e-12 4.56 -12 22.872 55.508 EUR HANCESTRO_0005 UK Biobank 450k GCST90081534 225913 5702 13.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON APC ICD10 K91.4: Colostomy and enterostomy malfunction (K91.4) EFO_0000405 2.5e-14 2.5 -14 63.128 183.296 EUR HANCESTRO_0005 UK Biobank 450k GCST90080316 387930 635 9.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GIGYF1 ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 1.97e-11 1.97 -11 4.551 7.086 EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 37.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS17 Comparative height size at age 10 - Shorter (1697) EFO_0004339 1.37e-17 1.37 -17 2.619 3.266 EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 156.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADAMTS17 Comparative height size at age 10 - Shorter (1697) EFO_0004339 5.83e-20 5.83 -20 1.415 1.525 EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 1083.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADAMTS10 Comparative height size at age 10 - Shorter (1697) EFO_0004339 1.53e-13 1.53 -13 1.72 1.986 EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 305.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SCUBE3 Comparative height size at age 10 - Shorter (1697) EFO_0004339 5.45e-12 5.45 -12 2.009 2.449 EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 171.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ZFAT Comparative height size at age 10 - Shorter (1697) EFO_0004339 5.48e-12 5.48 -12 0.708 0.781 EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 471.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANK1 Reticulocyte count (30250) EFO_0007986 1.39e-11 1.39 -11 0.731 0.567 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 123.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PLIN1 Reticulocyte count (30250) EFO_0007986 1.69e-11 1.69 -11 -0.153 -0.216 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 840.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ANK1 Reticulocyte count (30250) EFO_0007986 1.87e-19 1.87 -19 1.576 1.294 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 42.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON SPHK1 Reticulocyte count (30250) EFO_0007986 9.629999999999999e-28 9.63 -28 -0.105 -0.128 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 6367.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RHAG Reticulocyte count (30250) EFO_0007986 2.57e-13 2.57 -13 0.66 0.52 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 171.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PKLR Reticulocyte count (30250) EFO_0007986 4.13e-40 4.13 -40 0.191 0.166 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 5624.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Reticulocyte count (30250) EFO_0007986 5.870000000000001e-26 5.87 -26 1.186 1.0 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 96.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Reticulocyte count (30250) EFO_0007986 7.53e-13 7.53 -13 0.872 0.685 SAS HANCESTRO_0006 UK Biobank 450k 9692 9692 99.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Reticulocyte count (30250) EFO_0007986 7.53e-13 7.53 -13 0.872 0.685 SAS HANCESTRO_0006 UK Biobank 450k 9692 9692 99.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GCK ICD10 E13.621.: Other specified diabetes mellitus with foot ulcer EFO_0000400 1.12e-11 1.12 -11 5.184 8.336 EUR HANCESTRO_0005 UK Biobank 450k GCST90079743 386731 8622 29.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Body mass index BMI (21001) EFO_0004340 8.12e-28 8.12 -28 0.387 0.329 EUR HANCESTRO_0005 UK Biobank 450k GCST90078684 429633 429633 952.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NOTCH1 Neutrophil percentage (30200) EFO_0007990 2.48e-20 2.48 -20 -1.004 -1.274 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 47.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON NOTCH1 Neutrophil percentage (30200) EFO_0007990 2.48e-20 2.48 -20 -1.004 -1.274 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 47.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASXL1 Pack years of smoking (20161) EFO_0005671 7.96e-17 7.96 -17 0.392 0.318 EUR HANCESTRO_0005 UK Biobank 450k GCST90078325 134156 134156 627.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON OCA2 ICD10 Z85.8: Personal history of malignant neoplasms of other organs and systems EFO_0000616 9.79e-13 9.79 -13 1.582 1.795 EUR HANCESTRO_0005 UK Biobank 450k GCST90081353 387903 7665 294.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Neutrophil count (30140) EFO_0004833 5.84e-17 5.84 -17 -0.155 -0.203 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 1515.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON CXCL2 Neutrophil count (30140) EFO_0004833 1.13e-18 1.13 -18 -0.639 -0.822 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 102.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Neutrophil count (30140) EFO_0004833 8.74e-19 8.74 -19 -0.154 -0.198 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 1777.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GNB1 Neutrophil count (30140) EFO_0004833 2.95e-14 2.95 -14 0.517 0.411 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 304.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CXCR2 Neutrophil count (30140) EFO_0004833 2.03e-22 2.03 -22 -0.4 -0.501 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 335.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Neutrophil count (30140) EFO_0004833 1.44e-18 1.44 -18 -0.152 -0.196 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 1791.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IL17RA Neutrophil count (30140) EFO_0004833 5.19e-14 5.19 -14 -0.067 -0.091 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 6105.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IL33 AllergicDiseaseCases vs AllergicDiseaseControls (RGC) MONDO_0005271 3.62e-20 3.62 -20 0.683 0.741 EUR HANCESTRO_0005 UK Biobank 450k GCST90081451 354024 73382 664.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PRSS56 6mm weak meridian right (5098) EFO_0004731 6.11e-12 6.11 -12 0.624 0.485 EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 162.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MEN1 ICD10 E21.0: Primary hyperparathyroidism EFO_0008519 1.1e-14 1.1 -14 434.988 2031.21 EUR HANCESTRO_0005 UK Biobank 450k GCST90079751 387930 643 6.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MFRP SphericalEquivalent r started wearing glasses contacts before 40 (RGC) EFO_0004731 8.47e-16 8.47 -16 0.568 0.457 EUR HANCESTRO_0005 UK Biobank 450k GCST90081513 48976 48976 273.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HNF1A T2D (RGC) MONDO_0005148 2.63e-13 2.63 -13 6.102 9.909 EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 33.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GIGYF1 T2D (RGC) MONDO_0005148 4.58e-13 4.58 -13 4.769 7.28 EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 42.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 ICD10 N28: Other disorders of kidney and ureter, not elsewhere classified EFO_0009690 1.48e-12 1.48 -12 8.7 15.839 EUR HANCESTRO_0005 UK Biobank 450k GCST90080595 387002 3413 20.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GCK T2D (RGC) MONDO_0005148 3.37e-24 3.37 -24 16.272 27.887 EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 37.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON NPR3 Comparative height size at age 10 - Taller (1697) EFO_0004339 2.2e-16 2.2 -16 2.014 2.381 EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 268.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON FLG Non cancer illness code self reported - eczema dermatitis EFO_0005319 1.56e-41 1.56 -41 1.785 1.942 EUR HANCESTRO_0005 UK Biobank 450k GCST90077853 331754 12790 710.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON FLG ICD10 J45.9: Other and unspecified asthma MONDO_0004979 3.84e-12 3.84 -12 1.225 1.298 EUR HANCESTRO_0005 UK Biobank 450k GCST90080140 385754 38114 1461.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON OCA2 Age started wearing glasses or contact lenses (2217) EFO_0004731 1.23e-25 1.23 -25 -0.086 -0.105 EUR HANCESTRO_0005 UK Biobank 450k GCST90078869 374837 374837 9443.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 1.25e-11 1.25 -11 -1.231 -1.732 EAS HANCESTRO_0009 UK Biobank 450k 2106 2106 16.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CAD Mean sphered cell volume (30270) EFO_0004526 1.2300000000000002e-21 1.23 -21 0.196 0.162 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 2877.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOC3 Mean sphered cell volume (30270) EFO_0004526 1.5e-15 1.5 -15 0.193 0.155 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 2185.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC4A1 Mean sphered cell volume (30270) EFO_0004526 2.3e-13 2.3 -13 -0.974 -1.329 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 25.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 1.92e-17 1.92 -17 -1.562 -2.03 SAS HANCESTRO_0006 UK Biobank 450k 9690 9690 19.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON CHTF18 Mean sphered cell volume (30270) EFO_0004526 2.63e-16 2.63 -16 0.299 0.241 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 949.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON EPB41 Mean sphered cell volume (30270) EFO_0004526 2.2999999999999997e-24 2.3 -24 -0.565 -0.699 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 178.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPTA1 Mean sphered cell volume (30270) EFO_0004526 7.41e-34 7.41 -34 -0.488 -0.581 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 365.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 6.48e-86 6.48 -86 -1.865 -2.071 SAS HANCESTRO_0006 UK Biobank 450k 9690 9690 99.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON E2F4 Mean sphered cell volume (30270) EFO_0004526 1.64e-15 1.64 -15 1.838 1.475 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 24.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON POLE Mean sphered cell volume (30270) EFO_0004526 3.31e-12 3.31 -12 0.231 0.18 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 1239.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON OR51V1 Mean sphered cell volume (30270) EFO_0004526 1.13e-23 1.13 -23 -1.032 -1.283 SAS HANCESTRO_0006 UK Biobank 450k 9690 9690 71.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 1.25e-11 1.25 -11 -1.231 -1.732 EAS HANCESTRO_0009 UK Biobank 450k 2106 2106 16.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANK1 Mean sphered cell volume (30270) EFO_0004526 8.51e-15 8.51 -15 -0.477 -0.638 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 123.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SPTB Mean sphered cell volume (30270) EFO_0004526 1.57e-19 1.57 -19 -0.565 -0.722 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 129.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SPTA1 Mean sphered cell volume (30270) EFO_0004526 1.18e-28 1.18 -28 -0.484 -0.588 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 299.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC4A1 Mean sphered cell volume (30270) EFO_0004526 5.03e-26 5.03 -26 -1.264 -1.552 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 38.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SPTB Mean sphered cell volume (30270) EFO_0004526 1.76e-14 1.76 -14 -0.15 -0.202 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 1186.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC1R Hair colour natural before greying - Red (1747) EFO_0007822 4.93e-56 4.93 -56 8.702 11.387 EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 108.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON FANCA Hair colour natural before greying - Red (1747) EFO_0007822 8.57e-36 8.57 -36 0.395 0.457 EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 134.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC45A2 Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 1.9099999999999999e-34 1.91 -34 0.623 0.672 EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 941.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PER3 Chronotype - More an evening than a morning person (1180) EFO_0008328 6.31e-14 6.31 -14 0.79 0.84 EUR HANCESTRO_0005 UK Biobank 450k GCST90077575 388330 114330 1334.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC45A2 Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 4.1e-18 4.1 -18 0.627 0.697 EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 488.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NOTCH1 Type of Cancer: Chronic lymphocytic leukemia of B-cell type (40006) EFO_0000095 6.270000000000001e-27 6.27 -27 480.545 1482.21 EUR HANCESTRO_0005 UK Biobank 450k GCST90079124 74230 571 14.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN ICD10 I48: Atrial fibrillation and flutter EFO_0000275 1.12e-36 1.12 -36 2.558 2.959 EUR HANCESTRO_0005 UK Biobank 450k GCST90080015 386856 20107 280.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC45A2 Ease of skin tanning - Get mildly or occasionally tanned (1727) EFO_0007009 9.23e-12 9.23 -12 1.725 2.018 EUR HANCESTRO_0005 UK Biobank 450k GCST90077604 422570 93163 263.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON RASA3 Lymphocyte percentage (30180) EFO_0007993 1.54e-13 1.54 -13 -0.147 -0.2 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 1171.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANKRD12 Lymphocyte percentage (30180) EFO_0007993 3.81e-16 3.81 -16 -0.325 -0.428 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 312.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON RASA2 Lymphocyte percentage (30180) EFO_0007993 5.51e-14 5.51 -14 -0.29 -0.392 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 318.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON NOTCH1 Lymphocyte percentage (30180) EFO_0007993 4.6800000000000005e-27 4.68 -27 1.725 1.46 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 47.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 8.04e-12 8.04 -12 2.732 3.644 EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 69.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.11e-81 3.11 -81 -1.797 -2.003 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 9.03e-20 9.03 -20 -1.648 -2.1 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 21.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SPTA1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 4.72e-13 4.72 -13 0.507 0.399 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 304.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC4A1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.01e-12 2.01 -12 0.151 0.118 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 3315.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.43e-128 2.43 -128 -2.149 -2.339 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 98.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GMPR Mean corpuscular haemoglobin concentration (30060) EFO_0004528 7.59e-16 7.59 -16 0.239 0.193 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 1619.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 9.03e-20 9.03 -20 -1.648 -2.1 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 21.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 7.599999999999999e-24 7.6 -24 -1.785 -2.217 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 19.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON RHAG Mean corpuscular haemoglobin concentration (30060) EFO_0004528 1.5e-14 1.5 -14 0.641 0.511 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 209.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 1.79e-14 1.79 -14 -1.731 -2.326 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 10.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.89e-13 3.89 -13 -1.456 -1.994 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 14.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 7.599999999999999e-24 7.6 -24 -1.785 -2.217 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 19.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.89e-13 3.89 -13 -1.456 -1.994 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 14.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON KLF1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 6.29e-14 6.29 -14 -0.337 -0.456 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 250.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON KLF1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 6.29e-14 6.29 -14 -0.337 -0.456 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 250.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADAMTS17 Impedance of arm left (23110) HP_0000924 1.39e-16 1.39 -16 -0.065 -0.086 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 4065.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Impedance of arm left (23110) HP_0000924 2.5e-13 2.5 -13 -0.102 -0.139 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Body fat percentage (23099) EFO_0007800 1.41e-15 1.41 -15 0.23 0.185 EUR HANCESTRO_0005 UK Biobank 450k GCST90078903 423464 423464 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON FGD1 Impedance of arm left (23110) HP_0000924 2.86e-14 2.86 -14 -0.22 -0.296 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 158.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON APC ICD10 Z87.1: Personal history of diseases of the digestive system EFO_0000405 6.57e-15 6.57 -15 7.754 12.979 EUR HANCESTRO_0005 UK Biobank 450k GCST90081368 386566 20497 29.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 2.1200000000000002e-29 2.12 -29 6.775 9.454 EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 67.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 4.16e-21 4.16 -21 5.54 7.907 EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 55.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PKD1 ICD10 I10: Essential (primary) hypertension MONDO_0001134 6.05e-12 6.05 -12 3.717 5.402 EUR HANCESTRO_0005 UK Biobank 450k GCST90079962 374207 105117 70.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON HMCN1 FEV1 FVC ratio Z score (20258) EFO_0004713 4.04e-37 4.04 -37 0.616 0.534 EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 515.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACVRL1 ICD10 R04.0: Epistaxis EFO_0003895 1.12e-11 1.12 -11 36.284 102.305 EUR HANCESTRO_0005 UK Biobank 450k GCST90080761 385081 3559 9.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACVRL1 ICD10 R04.0: Epistaxis EFO_0003895 1.12e-11 1.12 -11 36.284 102.305 EUR HANCESTRO_0005 UK Biobank 450k GCST90080761 385081 3559 9.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ENPP1 Phosphate (30810) EFO_0010968 7.26e-14 7.26 -14 -0.316 -0.429 EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 268.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC34A3 Phosphate (30810) EFO_0010968 9.900000000000001e-30 9.9 -30 -0.155 -0.187 EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 3223.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Impedance of arm right (23109) HP_0000924 2.87e-18 2.87 -18 0.224 0.183 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 987.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ANTXR1 Impedance of arm right (23109) HP_0000924 7.76e-19 7.76 -19 -0.12 -0.154 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 1439.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FLG Non cancer illness code self reported - eczema dermatitis/ICD10 L30 EFO_0005319 1.04e-11 1.04 -11 1.611 1.848 EUR HANCESTRO_0005 UK Biobank 450k GCST90077854 329052 10233 252.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 Z51: Encounter for other aftercare and medical care EFO_0004542 1.43e-11 1.43 -11 2.29 2.912 EUR HANCESTRO_0005 UK Biobank 450k GCST90081286 383746 34913 99.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GCK Non cancer illness code self reported - diabetes/ICD10 E14 EFO_0000400 1.47e-13 1.47 -13 3.76 5.342 EUR HANCESTRO_0005 UK Biobank 450k GCST90077723 329052 16961 52.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 ICD10 Z45: Encounter for adjustment and management of implanted device EFO_0004542 3.33e-13 3.33 -13 13.769 27.893 EUR HANCESTRO_0005 UK Biobank 450k GCST90081264 387920 4136 16.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON UGT1A3 Total bilirubin (30840) EFO_0004570 5.02e-61 5.02 -61 0.559 0.499 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 935.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON UGT1A9 Total bilirubin (30840) EFO_0004570 1.67e-15 1.67 -15 0.529 0.425 SAS HANCESTRO_0006 UK Biobank 450k 9811 9811 341.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SPTA1 Total bilirubin (30840) EFO_0004570 2.2e-26 2.2 -26 0.519 0.438 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 365.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC4A1 Total bilirubin (30840) EFO_0004570 1.2200000000000002e-27 1.22 -27 1.641 1.391 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 38.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON UGT1A1 Total bilirubin (30840) EFO_0004570 2.05e-76 2.05 -76 0.645 0.583 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 864.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TRPM8 Total bilirubin (30840) EFO_0004570 2.23e-16 2.23 -16 0.149 0.12 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 4017.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A3 Total bilirubin (30840) EFO_0004570 5.13e-16 5.13 -16 0.542 0.437 SAS HANCESTRO_0006 UK Biobank 450k 9811 9811 334.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ATP11C Total bilirubin (30840) EFO_0004570 4.31e-16 4.31 -16 0.805 0.649 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 67.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON UGT1A1 Total bilirubin (30840) EFO_0004570 2.11e-12 2.11 -12 1.082 0.846 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 59.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SPTA1 Total bilirubin (30840) EFO_0004570 2.2e-26 2.2 -26 0.519 0.438 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 365.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON RP11-545J16.1 Total bilirubin (30840) EFO_0004570 7.59e-12 7.59 -12 0.281 0.218 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 628.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Total bilirubin (30840) EFO_0004570 1.69e-13 1.69 -13 0.718 0.567 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 105.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A6 Total bilirubin (30840) EFO_0004570 2.12e-18 2.12 -18 0.604 0.494 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 269.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON FLG Non cancer illness code self reported - asthma/ICD10 J45 MONDO_0004979 5.95e-14 5.95 -14 1.23 1.298 EUR HANCESTRO_0005 UK Biobank 450k GCST90077672 329051 45415 1748.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A3 Total bilirubin (30840) EFO_0004570 1.95e-11 1.95 -11 0.536 0.415 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 224.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC4A1 Total bilirubin (30840) EFO_0004570 2.2e-14 2.2 -14 0.834 0.664 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 82.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLCO1B3 Total bilirubin (30840) EFO_0004570 2.88e-17 2.88 -17 0.334 0.271 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 618.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC1R Skin colour - Dark olive (1717) EFO_0003784 8.99e-17 8.99 -17 0.29 0.388 EUR HANCESTRO_0005 UK Biobank 450k GCST90077600 425361 7210 28.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z51.5: Encounter for palliative care EFO_0004542 1.18e-11 1.18 -11 4.719 7.389 EUR HANCESTRO_0005 UK Biobank 450k GCST90081283 387892 5496 31.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC1R Skin colour - Dark olive (1717) EFO_0003784 8.99e-17 8.99 -17 0.29 0.388 EUR HANCESTRO_0005 UK Biobank 450k GCST90077600 425361 7210 28.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Eosinophil percentage (30210) EFO_0007991 7.090000000000001e-26 7.09 -26 -0.3 -0.369 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 708.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON ALOX15 Eosinophil percentage (30210) EFO_0007991 1.26e-15 1.26 -15 -0.122 -0.162 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 2138.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 4.6e-13 4.6 -13 2.083 2.54 EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 125.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 2.7599999999999995e-23 2.76 -23 3.955 5.186 EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 81.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CSF2RB Eosinophil percentage (30210) EFO_0007991 9.62e-39 9.62 -39 -0.417 -0.491 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 616.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 2.62e-13 2.62 -13 4.955 7.608 EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 34.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 Eosinophil percentage (30210) EFO_0007991 1.61e-50 1.61 -50 -0.288 -0.332 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 1777.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IL33 Eosinophil percentage (30210) EFO_0007991 2.7699999999999996e-82 2.77 -82 -0.229 -0.255 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 5008.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SPSB3 Basal metabolic rate (23105) EFO_0007777 6.36e-15 6.36 -15 -0.043 -0.058 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 6513.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Basal metabolic rate (23105) EFO_0007777 1.5e-13 1.5 -13 -0.043 -0.058 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 5845.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R Basal metabolic rate (23105) EFO_0007777 2.18e-19 2.18 -19 -0.175 -0.224 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 568.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SCUBE3 Basal metabolic rate (23105) EFO_0007777 5.18e-14 5.18 -14 -0.073 -0.099 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 2062.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Basal metabolic rate (23105) EFO_0007777 6.26e-15 6.26 -15 0.361 0.289 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 257.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN ICD10 I34: Nonrheumatic mitral valve disorders EFO_0009557 1.03e-12 1.03 -12 2.464 3.158 EUR HANCESTRO_0005 UK Biobank 450k GCST90079993 386860 3369 85.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR ICD10 E78.00: Pure hypercholesterolemia, unspecified HP_0003124 2.16e-21 2.16 -21 3.634 4.742 EUR HANCESTRO_0005 UK Biobank 450k GCST90079765 375399 5498 83.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR MI CC (RGC) EFO_0000612 2.78e-12 2.78 -12 2.127 2.629 EUR HANCESTRO_0005 UK Biobank 450k GCST90081494 363523 15475 123.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MSH2 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 1.57e-24 1.57 -24 13.53 22.294 EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 35.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 1.7300000000000001e-29 1.73 -29 4.808 6.317 EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 88.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 8.95e-19 8.95 -19 5.827 8.609 EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 45.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LDLR MI CC (RGC) EFO_0000612 2.78e-12 2.78 -12 2.127 2.629 EUR HANCESTRO_0005 UK Biobank 450k GCST90081494 363523 15475 123.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH2 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 1.3800000000000001e-22 1.38 -22 10.847 17.491 EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 36.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TYRP1 Skin colour - Light olive (1717) EFO_0003784 5.87e-18 5.87 -18 0.769 0.816 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 1399.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC45A2 Skin colour - Light olive (1717) EFO_0003784 1.37e-90 1.37 -90 0.287 0.324 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 223.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC45A2 Skin colour - Light olive (1717) EFO_0003784 1.35e-13 1.35 -13 0.243 0.354 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 21.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TYR Skin colour - Light olive (1717) EFO_0003784 8.12e-15 8.12 -15 0.32 0.427 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 41.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC45A2 Skin colour - Light olive (1717) EFO_0003784 1.3e-42 1.3 -42 0.317 0.374 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 129.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON OCA2 Skin colour - Light olive (1717) EFO_0003784 4.73e-13 4.73 -13 0.302 0.418 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 32.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON APOB Apolipoprotein A (30630) EFO_0004732 4.55e-13 4.55 -13 0.31 0.244 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 632.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOC3 Apolipoprotein A (30630) EFO_0004732 8.76e-35 8.76 -35 0.763 0.658 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 252.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ALDOB Apolipoprotein A (30630) EFO_0004732 1.69e-13 1.69 -13 0.1 0.079 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 6324.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TP53 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 1.67e-14 1.67 -14 16.566 33.933 EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 16.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LPL Apolipoprotein A (30630) EFO_0004732 1.72e-22 1.72 -22 -0.279 -0.349 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 561.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LIPG Apolipoprotein A (30630) EFO_0004732 6.73e-27 6.73 -27 0.648 0.548 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 276.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON DGAT2 Apolipoprotein A (30630) EFO_0004732 3.65e-16 3.65 -16 -0.097 -0.128 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 2916.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CD36 Apolipoprotein A (30630) EFO_0004732 2.26e-21 2.26 -21 0.233 0.193 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1745.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ABCA1 Apolipoprotein A (30630) EFO_0004732 4.42e-50 4.42 -50 -1.368 -1.576 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 64.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON CHD2 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 2.28e-22 2.28 -22 255.178 779.382 EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 11.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ANGPTL3 Apolipoprotein A (30630) EFO_0004732 1.7e-15 1.7 -15 -0.262 -0.348 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 376.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TP53 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 1.33e-14 1.33 -14 26.521 61.064 EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 13.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 Illnesses of mother - None of the above group 2 (20110) EFO_0000493 3.87e-24 3.87 -24 0.578 0.642 EUR HANCESTRO_0005 UK Biobank 450k GCST90078283 423686 308506 929.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SF3B1 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 1.74e-14 1.74 -14 30.298 72.451 EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 12.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON COL6A1 Corneal hysteresis right (5256) EFO_0010066 3.44e-25 3.44 -25 -0.92 -1.135 EUR HANCESTRO_0005 UK Biobank 450k GCST90079335 105888 105888 75.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR Treatment or Medication Code - rosuvastatin EFO_0007010 5.8e-14 5.8 -14 10.505 19.404 EUR HANCESTRO_0005 UK Biobank 450k GCST90078225 320758 2905 20.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Arm fat mass right (23120) EFO_0005409 2.6300000000000002e-27 2.63 -27 0.381 0.323 EUR HANCESTRO_0005 UK Biobank 450k GCST90078923 423576 423576 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Arm fat mass right (23120) EFO_0005409 1.42e-26 1.42 -26 0.333 0.281 EUR HANCESTRO_0005 UK Biobank 450k GCST90078923 423576 423576 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Arm fat mass right (23120) EFO_0005409 4.41e-15 4.41 -15 0.637 0.51 EUR HANCESTRO_0005 UK Biobank 450k GCST90078923 423576 423576 197.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGFBP6 IGF 1 (30770) EFO_0004627 5.25e-12 5.25 -12 -0.222 -0.31 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 397.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PAPPA2 IGF 1 (30770) EFO_0004627 2.37e-19 2.37 -19 0.373 0.306 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 695.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON FGB IGF 1 (30770) EFO_0004627 6.25e-12 6.25 -12 0.099 0.077 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 6386.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGFALS IGF 1 (30770) EFO_0004627 1.37e-37 1.37 -37 -0.543 -0.641 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 320.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SMAD6 Ankle spacing width left (4100) EFO_0004324 4.6e-14 4.6 -14 0.621 0.493 EUR HANCESTRO_0005 UK Biobank 450k GCST90079148 166283 166283 151.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANGPTL7 6mm strong meridian right (5133) EFO_0004731 7.63e-17 7.63 -17 0.228 0.184 EUR HANCESTRO_0005 UK Biobank 450k GCST90079299 90887 90887 1648.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 6mm strong meridian right (5133) EFO_0004731 3.03e-22 3.03 -22 0.728 0.606 EUR HANCESTRO_0005 UK Biobank 450k GCST90079299 90887 90887 204.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Ankle spacing width left (4100) EFO_0004324 5.54e-12 5.54 -12 0.863 0.672 EUR HANCESTRO_0005 UK Biobank 450k GCST90079148 166283 166283 68.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PAPPA2 IGF 1 (30770) EFO_0004627 2.25e-31 2.25 -31 0.277 0.237 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1937.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON STAB2 IGF 1 (30770) EFO_0004627 2.7e-13 2.7 -13 -0.079 -0.108 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 3734.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON JAK2 IGF 1 (30770) EFO_0004627 3.5e-17 3.5 -17 -0.473 -0.616 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 149.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TSHR Non cancer illness code self reported - hypothyroidism myxoedema EFO_0004705 6.920000000000001e-29 6.92 -29 2.576 3.042 EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 220.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TSHR Non cancer illness code self reported - hypothyroidism myxoedema EFO_1001055 1.93e-16 1.93 -16 2.366 2.905 EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 140.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TSHR Non cancer illness code self reported - hypothyroidism myxoedema EFO_0004705 1.93e-16 1.93 -16 2.366 2.905 EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 140.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN ICD10 I50.9: Heart failure, unspecified EFO_0003144 1.25e-11 1.25 -11 2.445 3.168 EUR HANCESTRO_0005 UK Biobank 450k GCST90080022 387930 2407 78.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON COL4A4 Microalbumin in urine (30500) EFO_0010967 7.46e-57 7.46 -57 0.815 0.726 EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 463.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON COL4A3 Microalbumin in urine (30500) EFO_0010967 1.48e-11 1.48 -11 0.324 0.251 EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 699.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON COL4A4 Microalbumin in urine (30500) EFO_0010967 6.14e-12 6.14 -12 0.808 0.629 EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 115.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MEPE Heel broadband ultrasound attenuation left (4101) EFO_0004514 1.56e-18 1.56 -18 -0.219 -0.282 EUR HANCESTRO_0005 UK Biobank 450k GCST90079149 166276 166276 747.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CUBN Microalbumin in urine (30500) EFO_0010967 3.98e-15 3.98 -15 0.293 0.234 EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 1083.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TTN ICD10 I50.9: Heart failure, unspecified EFO_0003144 4.03e-13 4.03 -13 5.753 9.23 EUR HANCESTRO_0005 UK Biobank 450k GCST90080022 387930 2407 29.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON GIGYF1 Education score England (26414) EFO_0011015 1.97e-13 1.97 -13 0.787 0.621 EUR HANCESTRO_0005 UK Biobank 450k GCST90078953 369491 369491 132.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 Ankle spacing width (3143) EFO_0004324 9.54e-25 9.54 -25 0.664 0.558 EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 215.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Whole body fat free mass (23101) EFO_0004995 1e-15 10.0 -16 0.45 0.361 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 157.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Whole body fat free mass (23101) EFO_0004995 7.59e-13 7.59 -13 0.395 0.31 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 170.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Whole body fat free mass (23101) EFO_0004995 6.52e-17 6.52 -17 -0.048 -0.062 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 5845.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Whole body fat free mass (23101) EFO_0004995 3.0200000000000002e-22 3.02 -22 -0.549 -0.688 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 63.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ZFAT Whole body fat free mass (23101) EFO_0004995 1e-11 10.0 -12 0.802 0.623 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 38.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON PAPPA2 Whole body fat free mass (23101) EFO_0004995 8.5e-12 8.5 -12 -0.163 -0.229 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 285.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Whole body fat free mass (23101) EFO_0004995 5.59e-69 5.59 -69 0.135 0.121 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 6712.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R Whole body fat free mass (23101) EFO_0004995 3.98e-15 3.98 -15 -0.086 -0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 1485.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 C78: Secondary malignant neoplasm of respiratory and digestive organs EFO_0009812 4.1699999999999995e-30 4.17 -30 4.834 6.337 EUR HANCESTRO_0005 UK Biobank 450k GCST90079625 387835 6526 87.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 ICD10 C78: Secondary malignant neoplasm of respiratory and digestive organs EFO_0009812 9.09e-12 9.09 -12 4.274 6.489 EUR HANCESTRO_0005 UK Biobank 450k GCST90079625 387835 6526 35.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Leg fat free mass right (23113) EFO_0004995 1.56e-12 1.56 -12 -0.039 -0.055 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 5845.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACAN Leg fat free mass right (23113) EFO_0004995 1.88e-14 1.88 -14 -0.502 -0.674 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 44.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON IRS1 Leg fat free mass right (23113) EFO_0004995 4.75e-18 4.75 -18 -0.332 -0.429 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 140.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PDE3B Leg fat free mass right (23113) EFO_0004995 3.67e-12 3.67 -12 0.151 0.117 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 1200.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 ICD10 Z99.2: Dependence on renal dialysis EFO_0010690 2.88e-37 2.88 -37 31.226 52.985 EUR HANCESTRO_0005 UK Biobank 450k GCST90081442 385553 1868 34.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Leg fat free mass right (23113) EFO_0004995 8.34e-29 8.34 -29 0.25 0.213 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PAPPA2 Leg fat free mass right (23113) EFO_0004995 2.74e-12 2.74 -12 -0.066 -0.092 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 2008.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 9.81e-18 9.81 -18 8.09 13.046 EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 31.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Leg fat free mass right (23113) EFO_0004995 1.68e-15 1.68 -15 0.413 0.331 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 197.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 ICD10 Z99.2: Dependence on renal dialysis EFO_0010690 2.2300000000000002e-29 2.23 -29 18.166 30.101 EUR HANCESTRO_0005 UK Biobank 450k GCST90081442 385553 1868 33.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ACAN Leg fat free mass right (23113) EFO_0004995 3.18e-16 3.18 -16 -0.457 -0.601 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 63.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 7.64e-21 7.64 -21 16.639 29.971 EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 24.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Leg fat free mass right (23113) EFO_0004995 1.56e-12 1.56 -12 -0.039 -0.055 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 5845.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PDE3B Leg fat free mass right (23113) EFO_0004995 1.98e-14 1.98 -14 0.124 0.099 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 2067.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 9.26e-13 9.26 -13 11.284 21.945 EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 17.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SCUBE3 Leg fat free mass right (23113) EFO_0004995 1.76e-11 1.76 -11 -0.062 -0.087 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 2062.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH2 Illnesses of siblings - Bowel cancer (20111) EFO_0009640 7.58e-13 7.58 -13 9.641 17.913 EUR HANCESTRO_0005 UK Biobank 450k GCST90078291 371732 9037 20.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON RRAD Pulse rate automated reading (102) EFO_0004326 4.46e-13 4.46 -13 0.287 0.226 EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 954.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Pulse rate automated reading (102) EFO_0004326 5.37e-34 5.37 -34 0.182 0.157 EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 5669.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON COL1A1 Non cancer illness code self reported - bone disorder/ICD10 M85 EFO_0004260 1.2e-12 1.2 -12 67.485 215.665 EUR HANCESTRO_0005 UK Biobank 450k GCST90077770 329052 841 9.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TBX5 Pulse rate automated reading (102) EFO_0004326 5.4899999999999995e-34 5.49 -34 0.203 0.175 EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 4522.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Pulse rate automated reading (102) EFO_0004326 1.4599999999999998e-52 1.46 -52 0.328 0.291 EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 2574.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC4A1 Mean reticulocyte volume (30260) EFO_0010701 5.76e-15 5.76 -15 -0.123 -0.164 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1915.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IFRD2 Mean reticulocyte volume (30260) EFO_0010701 9.04e-18 9.04 -18 -0.122 -0.158 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 2475.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RTEL1 Mean reticulocyte volume (30260) EFO_0010701 1.21e-13 1.21 -13 0.468 0.37 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 336.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TERT Mean reticulocyte volume (30260) EFO_0010701 9.89e-15 9.89 -15 0.563 0.45 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 247.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPTA1 Mean reticulocyte volume (30260) EFO_0010701 1.09e-43 1.09 -43 -0.575 -0.669 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 365.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC4A1 Mean reticulocyte volume (30260) EFO_0010701 6.49e-29 6.49 -29 -1.363 -1.654 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 38.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON E2F4 Mean reticulocyte volume (30260) EFO_0010701 3.57e-17 3.57 -17 1.938 1.573 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 24.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ANK1 Mean reticulocyte volume (30260) EFO_0010701 1.89e-21 1.89 -21 -0.229 -0.289 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 915.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 ICD10 C77: Secondary and unspecified malignant neoplasm of lymph nodes MONDO_0024339 3.3e-31 3.3 -31 4.35 5.575 EUR HANCESTRO_0005 UK Biobank 450k GCST90079620 387882 7019 101.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON OR10R2 Mean reticulocyte volume (30260) EFO_0010701 6.12e-12 6.12 -12 0.155 0.12 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 2792.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TRIM10 Mean reticulocyte volume (30260) EFO_0010701 2.18e-14 2.18 -14 0.281 0.224 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 994.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MIP ICD10 H26: Other cataract MONDO_0005129 4.05e-18 4.05 -18 13.424 24.134 EUR HANCESTRO_0005 UK Biobank 450k GCST90079893 384442 20291 27.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MIP ICD10 H26: Other cataract MONDO_0005129 1.53e-30 1.53 -30 14.472 22.832 EUR HANCESTRO_0005 UK Biobank 450k GCST90079893 384442 20291 46.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC4R Comparative body size at age 10 - Thinner (1687) EFO_0009819 2.3e-20 2.3 -20 0.535 0.611 EUR HANCESTRO_0005 UK Biobank 450k GCST90077588 423612 141504 260.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PPARG HDL cholesterol (30760) EFO_0004612 3.51e-15 3.51 -15 -0.296 -0.394 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 267.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LPL HDL cholesterol (30760) EFO_0004612 5.4e-20 5.4 -20 -0.52 -0.662 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 130.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON NR1H3 HDL cholesterol (30760) EFO_0004612 1.41e-32 1.41 -32 0.268 0.23 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1805.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LIPC HDL cholesterol (30760) EFO_0004612 9.010000000000001e-32 9.01 -32 0.477 0.409 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 559.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB HDL cholesterol (30760) EFO_0004612 5.87e-22 5.87 -22 0.376 0.312 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 640.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CD36 HDL cholesterol (30760) EFO_0004612 7.15e-18 7.15 -18 0.227 0.185 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1472.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL3 HDL cholesterol (30760) EFO_0004612 9.96e-22 9.96 -22 -0.221 -0.278 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 801.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APOA5 HDL cholesterol (30760) EFO_0004612 1.52e-12 1.52 -12 -0.321 -0.445 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 171.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCAT HDL cholesterol (30760) EFO_0004612 1.1500000000000001e-29 1.15 -29 -1.039 -1.256 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 57.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LIPG HDL cholesterol (30760) EFO_0004612 1.38e-18 1.38 -18 0.779 0.637 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 128.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SRSF2 ICD10 D64.9: Anemia, unspecified EFO_0004272 9.7e-12 9.7 -12 4.552 7.041 EUR HANCESTRO_0005 UK Biobank 450k GCST90079711 387075 14923 35.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Leg predicted mass right (23114) EFO_0004302 2.49e-52 2.49 -52 0.122 0.108 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 6711.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON STC2 Leg predicted mass right (23114) EFO_0004302 1.7e-18 1.7 -18 0.126 0.103 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 2488.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R Leg predicted mass right (23114) EFO_0004302 1.68e-16 1.68 -16 -0.433 -0.567 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 71.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON IRS1 Leg predicted mass right (23114) EFO_0004302 7.65e-18 7.65 -18 -0.327 -0.424 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 140.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGF1R Leg predicted mass right (23114) EFO_0004302 7.98e-22 7.98 -22 -0.141 -0.177 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 995.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Leg predicted mass right (23114) EFO_0004302 4.88e-13 4.88 -13 0.366 0.288 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 213.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN ICD10 I42.9: Cardiomyopathy, unspecified EFO_0000318 5.47e-17 5.47 -17 4.854 7.024 EUR HANCESTRO_0005 UK Biobank 450k GCST90079999 387930 681 45.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Leg predicted mass right (23114) EFO_0004302 2.02e-12 2.02 -12 -0.039 -0.054 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 5845.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APOB Treatment or Medication Code - simvastatin EFO_0007010 1.11e-12 1.11 -12 0.32 0.438 EUR HANCESTRO_0005 UK Biobank 450k GCST90078009 320758 51781 31.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APOB Treatment or Medication Code - simvastatin EFO_0007010 1.11e-12 1.11 -12 0.32 0.438 EUR HANCESTRO_0005 UK Biobank 450k GCST90078009 320758 51781 31.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MSH6 Type of Cancer: Malignant neoplasm of endometrium (40006) MONDO_0011962 1.05e-15 1.05 -15 8.334 13.992 EUR HANCESTRO_0005 UK Biobank 450k GCST90079109 41005 1536 30.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON WNT1 Heel Broadband ultrasound attenuation direct entry (3144) EFO_0004514 6.14e-14 6.14 -14 -0.317 -0.429 EUR HANCESTRO_0005 UK Biobank 450k GCST90079049 246304 246304 236.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH6 Type of Cancer: Malignant neoplasm of endometrium (40006) MONDO_0011962 9.92e-30 9.92 -30 21.42 36.403 EUR HANCESTRO_0005 UK Biobank 450k GCST90079109 41005 1536 37.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON WNT1 Heel Broadband ultrasound attenuation direct entry (3144) EFO_0004514 6.14e-14 6.14 -14 -0.317 -0.429 EUR HANCESTRO_0005 UK Biobank 450k GCST90079049 246304 246304 236.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SNX17 Triglycerides (30870) EFO_0004530 8.43e-14 8.43 -14 -0.044 -0.06 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 12828.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL8 Triglycerides (30870) EFO_0004530 3.770000000000001e-27 3.77 -27 -0.323 -0.394 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 602.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LIPC Triglycerides (30870) EFO_0004530 1.59e-18 1.59 -18 0.159 0.13 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 3667.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LPL Triglycerides (30870) EFO_0004530 8.44e-19 8.44 -19 0.845 0.692 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 134.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOA5 Triglycerides (30870) EFO_0004530 5.260000000000001e-72 5.26 -72 0.885 0.797 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 417.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON JAK2 ICD10 D69.6: Thrombocytopenia, unspecified HP_0001873 5.41e-18 5.41 -18 4.89 7.009 EUR HANCESTRO_0005 UK Biobank 450k GCST90079714 387579 1788 46.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 ICD10 D69.6: Thrombocytopenia, unspecified HP_0001873 3.02e-12 3.02 -12 4.076 6.049 EUR HANCESTRO_0005 UK Biobank 450k GCST90079714 387579 1788 38.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 ICD10 D69.6: Thrombocytopenia, unspecified HP_0001873 3.02e-12 3.02 -12 4.076 6.049 EUR HANCESTRO_0005 UK Biobank 450k GCST90079714 387579 1788 38.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 ICD10 D69.6: Thrombocytopenia, unspecified HP_0001873 9.52e-12 9.52 -12 4.308 6.558 EUR HANCESTRO_0005 UK Biobank 450k GCST90079714 387579 1788 34.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON APC Non cancer illness code self reported - rectal or colon adenoma polyps/ICD10 D12 EFO_1000633 6.84e-16 6.84 -16 40.879 100.629 EUR HANCESTRO_0005 UK Biobank 450k GCST90077868 329052 1492 12.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON INSC Heel bone mineral density BMD T score automated left (4106) EFO_0009270 9.96e-12 9.96 -12 0.11 0.085 EUR HANCESTRO_0005 UK Biobank 450k GCST90079153 166283 166283 5117.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON JAK2 ICD10 R16: Hepatomegaly and splenomegaly, not elsewhere classified HP_0002240 1.32e-17 1.32 -17 7.004 10.947 EUR HANCESTRO_0005 UK Biobank 450k GCST90080805 387634 864 31.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON JAK2 ICD10 R16: Hepatomegaly and splenomegaly, not elsewhere classified HP_0002240 1.32e-17 1.32 -17 7.004 10.947 EUR HANCESTRO_0005 UK Biobank 450k GCST90080805 387634 864 31.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR Non cancer illness code self reported - high cholesterol HP_0003124 5.81e-15 5.81 -15 3.035 4.01 EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 99.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOB Non cancer illness code self reported - high cholesterol HP_0003124 1.02e-22 1.02 -22 0.194 0.269 EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 23.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC34A3 Cystatin C (30720) EFO_0004617 1.59e-19 1.59 -19 0.252 0.207 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 1282.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD2 Cystatin C (30720) EFO_0004617 2.67e-17 2.67 -17 0.836 0.678 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 105.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON APC Non cancer illness code self reported - rectal or colon adenoma polyps EFO_1000633 1.17e-15 1.17 -15 39.389 96.798 EUR HANCESTRO_0005 UK Biobank 450k GCST90077867 331754 1530 12.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LRP2 Cystatin C (30720) EFO_0004617 6.3e-24 6.3 -24 -0.069 -0.085 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 9778.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GIGYF1 Cystatin C (30720) EFO_0004617 3.68e-12 3.68 -12 0.591 0.461 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 154.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CST9L Cystatin C (30720) EFO_0004617 1.55e-11 1.55 -11 -0.265 -0.373 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 237.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 Cystatin C (30720) EFO_0004617 9.49e-36 9.49 -36 0.673 0.582 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 311.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LRP2 Cystatin C (30720) EFO_0004617 3.72e-16 3.72 -16 -0.228 -0.3 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 501.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Cystatin C (30720) EFO_0004617 2.49e-14 2.49 -14 0.204 0.162 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 1501.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON CHEK2 Illnesses of siblings - Breast cancer (20111) EFO_0009640 1.2e-12 1.2 -12 1.818 2.144 EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 183.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 Illnesses of siblings - Breast cancer (20111) EFO_0009640 9.59e-16 9.59 -16 2.662 3.38 EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 98.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON APC ICD10 Z86.0: Personal history of in-situ and benign neoplasms and neoplasms of uncertain behavior EFO_0000616 1.79e-18 1.79 -18 16.465 30.794 EUR HANCESTRO_0005 UK Biobank 450k GCST90081355 387929 6926 22.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TSHR Treatment or Medication Code - levothyroxine sodium EFO_0007010 2.5e-12 2.5 -12 2.197 2.738 EUR HANCESTRO_0005 UK Biobank 450k GCST90078224 320758 19017 115.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Arm fat percentage left (23123) EFO_0007800 1.2500000000000001e-21 1.25 -21 0.266 0.221 EUR HANCESTRO_0005 UK Biobank 450k GCST90078926 423545 423545 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 ICD10 C92: Myeloid leukemia EFO_0002427 2.19e-21 2.19 -21 11.19 18.42 EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 30.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ASXL1 ICD10 C92: Myeloid leukemia EFO_0002427 5.84e-21 5.84 -21 6.931 10.38 EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 41.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Arm fat percentage left (23123) EFO_0007800 1.21e-21 1.21 -21 0.235 0.195 EUR HANCESTRO_0005 UK Biobank 450k GCST90078926 423545 423545 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Arm fat percentage left (23123) EFO_0007800 1.57e-12 1.57 -12 0.455 0.356 EUR HANCESTRO_0005 UK Biobank 450k GCST90078926 423545 423545 197.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON FLG AtopicDermatitis (RGC) EFO_0000274 2.26e-22 2.26 -22 1.765 1.98 EUR HANCESTRO_0005 UK Biobank 450k GCST90081462 276670 15131 388.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 2.15e-17 2.15 -17 2.732 3.447 EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 103.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 2.63e-22 2.63 -22 3.052 3.823 EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 125.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 1.04e-13 1.04 -13 8.024 13.893 EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 28.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON BRCA1 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 7.31e-26 7.31 -26 4.743 6.34 EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 86.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 1.59e-13 1.59 -13 12.366 24.117 EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 21.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON BRCA2 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 1.29e-19 1.29 -19 1.827 2.082 EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 290.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Arm fat mass left (23124) EFO_0005409 5.91e-26 5.91 -26 0.33 0.278 EUR HANCESTRO_0005 UK Biobank 450k GCST90078927 423512 423512 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MIP ICD10 H25: Age-related cataract HP_0011141 2.34e-15 2.34 -15 9.657 16.924 EUR HANCESTRO_0005 UK Biobank 450k GCST90079889 387782 12614 26.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 5.6e-106 5.6 -106 2.217 2.035 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 4.8e-26 4.8 -26 2.561 2.16 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 21.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.63e-13 1.63 -13 2.499 1.975 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 14.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.59e-14 1.59 -14 2.235 1.781 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON EGLN1 Red blood cell erythrocyte count (30010) EFO_0004305 9.16e-13 9.16 -13 0.775 0.608 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 85.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CAD Red blood cell erythrocyte count (30010) EFO_0004305 1.27e-12 1.27 -12 -0.278 -0.384 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 210.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 Red blood cell erythrocyte count (30010) EFO_0004305 4.23e-12 4.23 -12 -0.092 -0.128 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 1794.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACO1 Red blood cell erythrocyte count (30010) EFO_0004305 3.26e-17 3.26 -17 0.405 0.329 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 403.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON RTEL1 Red blood cell erythrocyte count (30010) EFO_0004305 4.95e-14 4.95 -14 -0.236 -0.32 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 339.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON RTEL1 Red blood cell erythrocyte count (30010) EFO_0004305 4.95e-14 4.95 -14 -0.236 -0.32 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 339.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SF3B1 Red blood cell erythrocyte count (30010) EFO_0004305 1.05e-31 1.05 -31 -0.386 -0.463 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 394.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 Illnesses of mother - Breast cancer (20110) EFO_0009640 2.8299999999999997e-24 2.83 -24 1.556 1.695 EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 684.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CALR Red blood cell erythrocyte count (30010) EFO_0004305 8.28e-24 8.28 -24 -0.753 -0.935 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 71.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 5.6e-106 5.6 -106 2.217 2.035 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GGT1 Gamma glutamyltransferase (30730) EFO_0004532 6.03e-21 6.03 -21 -0.141 -0.178 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 2121.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON G6PC Gamma glutamyltransferase (30730) EFO_0004532 5.45e-16 5.45 -16 0.227 0.183 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1451.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PKHD1 Gamma glutamyltransferase (30730) EFO_0004532 5.69e-15 5.69 -15 0.153 0.122 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 3029.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON A1CF Gamma glutamyltransferase (30730) EFO_0004532 5.26e-15 5.26 -15 0.279 0.223 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 908.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MYOC Eye problems disorders - Glaucoma (6148) EFO_0000516 3.9e-19 3.9 -19 4.109 5.602 EUR HANCESTRO_0005 UK Biobank 450k GCST90079431 37798 6848 89.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MYOC Eye problems disorders - Glaucoma (6148) EFO_0000516 3.22e-14 3.22 -14 2.878 3.782 EUR HANCESTRO_0005 UK Biobank 450k GCST90079431 37798 6848 101.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RNF10 High light scatter reticulocyte count (30300) EFO_0007986 2.79e-12 2.79 -12 0.899 0.702 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 85.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON IFRD2 High light scatter reticulocyte count (30300) EFO_0007986 1.8599999999999998e-101 1.86 -101 0.436 0.399 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 2475.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADAMTS17 Forced vital capacity FVC (3062) EFO_0004312 1.97e-13 1.97 -13 -0.075 -0.102 EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 2319.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BTN2A2 High light scatter reticulocyte count (30300) EFO_0007986 4.47e-13 4.47 -13 -0.055 -0.075 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 8175.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 High light scatter reticulocyte count (30300) EFO_0007986 2.37e-20 2.37 -20 0.248 0.205 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1754.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADAMTS17 Forced vital capacity FVC (3062) EFO_0004312 2.96e-13 2.96 -13 -0.058 -0.079 EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 3829.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PIEZO1 High light scatter reticulocyte count (30300) EFO_0007986 9.81e-17 9.81 -17 0.063 0.051 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 23926.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GATA5 Forced vital capacity FVC (3062) EFO_0004312 1.41e-11 1.41 -11 -0.04 -0.056 EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 6560.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NF1 Non cancer illness code self reported - other neurological problem EFO_0000618 1.1e-36 1.1 -36 28.641 48.164 EUR HANCESTRO_0005 UK Biobank 450k GCST90077842 331754 1794 35.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 DD Cancer - Yes (2453) EFO_0000311 2.9e-13 2.9 -13 2.526 3.24 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 95.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 DD Cancer - Yes (2453) EFO_0000311 1.1e-31 1.1 -31 2.564 3.002 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 240.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ATM DD Cancer - Yes (2453) EFO_0000311 2.45e-12 2.45 -12 1.323 1.43 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 794.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SMAD6 ICD10 M50: Cervical disc disorders EFO_0009537 2.48e-12 2.48 -12 9.558 17.975 EUR HANCESTRO_0005 UK Biobank 450k GCST90080494 386602 2103 18.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC45A2 Ease of skin tanning - Get very tanned (1727) EFO_0007009 4.03e-66 4.03 -66 0.385 0.429 EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 305.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPG7 Ease of skin tanning - Get very tanned (1727) EFO_0007009 5.74e-13 5.74 -13 0.845 0.885 EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 2385.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SBNO2 White blood cell leukocyte count (30000) EFO_0004308 1.13e-11 1.13 -11 0.545 0.423 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 228.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON MYD88 White blood cell leukocyte count (30000) EFO_0004308 3.22e-14 3.22 -14 0.767 0.609 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 137.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON JAK2 ICD10 R16.1: Splenomegaly, not elsewhere classified HP_0001744 1.26e-18 1.26 -18 9.535 15.747 EUR HANCESTRO_0005 UK Biobank 450k GCST90080804 387798 515 26.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON JAK2 ICD10 R16.1: Splenomegaly, not elsewhere classified HP_0001744 1.26e-18 1.26 -18 9.535 15.747 EUR HANCESTRO_0005 UK Biobank 450k GCST90080804 387798 515 26.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TYR Ease of skin tanning - Get very tanned (1727) EFO_0007009 1.01e-17 1.01 -17 0.537 0.619 EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 211.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TYR Ease of skin tanning - Get very tanned (1727) EFO_0007009 4.86e-14 4.86 -14 0.785 0.836 EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 1249.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Leg fat mass left (23116) EFO_0005409 2.34e-13 2.34 -13 0.487 0.385 EUR HANCESTRO_0005 UK Biobank 450k GCST90078919 423640 423640 197.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TYR Ease of skin tanning - Get very tanned (1727) EFO_0007009 1.73e-38 1.73 -38 0.48 0.536 EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 328.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPATA33 Ease of skin tanning - Get very tanned (1727) EFO_0007009 9.82e-13 9.82 -13 1.292 1.386 EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 1186.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Leg fat mass left (23116) EFO_0005409 2.51e-24 2.51 -24 0.258 0.217 EUR HANCESTRO_0005 UK Biobank 450k GCST90078919 423640 423640 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC45A2 Ease of skin tanning - Get very tanned (1727) EFO_0007009 4.03e-66 4.03 -66 0.385 0.429 EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 305.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON S1PR4 White blood cell leukocyte count (30000) EFO_0004308 1.22e-11 1.22 -11 -0.147 -0.207 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 954.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CXCL6 White blood cell leukocyte count (30000) EFO_0004308 1.99e-16 1.99 -16 -0.075 -0.098 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 6220.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 White blood cell leukocyte count (30000) EFO_0004308 3.95e-18 3.95 -18 -0.15 -0.194 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 1779.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADAMTS17 Seated height (51) EFO_0011011 4.05e-20 4.05 -20 -0.104 -0.132 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 2488.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZNF770 SHBG (30830) EFO_0004696 1.8e-18 1.8 -18 0.976 0.798 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 82.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PIEZO1 Seated height (51) EFO_0011011 8.69e-14 8.69 -14 -0.026 -0.035 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 24970.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON DPP9 SHBG (30830) EFO_0004696 8.28e-12 8.28 -12 0.367 0.285 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 391.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON NPR2 Seated height (51) EFO_0011011 3.1e-14 3.1 -14 -0.203 -0.274 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 394.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON HGF SHBG (30830) EFO_0004696 1.8e-12 1.8 -12 -0.136 -0.189 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 945.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASXL1 Smoking status - Current (20116) EFO_0006527 1.9699999999999998e-38 1.97 -38 2.757 3.215 EUR HANCESTRO_0005 UK Biobank 450k GCST90078302 429255 45239 265.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS17 Seated height (51) EFO_0011011 5.95e-20 5.95 -20 -0.081 -0.103 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 4115.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Hand grip strength right (47) EFO_0006941 9.69e-13 9.69 -13 -0.045 -0.062 EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 5940.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TNRC6B Hand grip strength right (47) EFO_0006941 2.12e-11 2.12 -11 -0.348 -0.492 EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 83.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON COL4A4 ICD10 R31: Hematuria HP_0000790 5.83e-59 5.83 -59 6.075 7.558 EUR HANCESTRO_0005 UK Biobank 450k GCST90080842 383009 19710 153.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON COL4A4 ICD10 R31: Hematuria HP_0000790 5.83e-59 5.83 -59 6.075 7.558 EUR HANCESTRO_0005 UK Biobank 450k GCST90080842 383009 19710 153.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON COL4A4 ICD10 R31: Hematuria HP_0000790 5.83e-59 5.83 -59 6.075 7.558 EUR HANCESTRO_0005 UK Biobank 450k GCST90080842 383009 19710 153.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS17 Impedance of whole body (23106) HP_0000924 1.16e-17 1.16 -17 -0.073 -0.095 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 4065.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Trunk predicted mass (23130) EFO_0004324 2.98e-16 2.98 -16 0.356 0.287 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 257.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SCUBE3 Trunk predicted mass (23130) EFO_0004324 6.28e-15 6.28 -15 -0.073 -0.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 2062.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Impedance of whole body (23106) HP_0000924 3.99e-18 3.99 -18 0.099 0.081 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 5847.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR Non cancer illness code self reported - angina/ICD10 I20 EFO_0003913 2.66e-15 2.66 -15 2.494 3.128 EUR HANCESTRO_0005 UK Biobank 450k GCST90077656 329052 13585 110.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Impedance of whole body (23106) HP_0000924 5.87e-14 5.87 -14 0.213 0.169 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 986.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON GHRH Trunk predicted mass (23130) EFO_0004324 2.03e-15 2.03 -15 -0.281 -0.373 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 143.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Impedance of whole body (23106) HP_0000924 3.51e-24 3.51 -24 -0.166 -0.206 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SMAD6 6mm strong meridian left (5134) EFO_0004731 3.3200000000000002e-21 3.32 -21 0.559 0.463 EUR HANCESTRO_0005 UK Biobank 450k GCST90079300 89735 89735 331.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADAMTS17 Impedance of whole body (23106) HP_0000924 5.98e-13 5.98 -13 -0.186 -0.255 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 394.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON EML4 Impedance of whole body (23106) HP_0000924 1.55e-11 1.55 -11 -0.091 -0.129 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 1376.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Leg fat mass right (23112) EFO_0005409 3.83e-25 3.83 -25 0.265 0.223 EUR HANCESTRO_0005 UK Biobank 450k GCST90078915 423659 423659 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANTXR1 Impedance of whole body (23106) HP_0000924 2.37e-12 2.37 -12 -0.094 -0.131 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 1439.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Impedance of whole body (23106) HP_0000924 4.99e-26 4.99 -26 0.134 0.113 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 4406.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Trunk predicted mass (23130) EFO_0004324 8.16e-18 8.16 -18 -0.562 -0.728 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 44.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON LCORL Trunk predicted mass (23130) EFO_0004324 3.08e-16 3.08 -16 0.455 0.367 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 157.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Trunk predicted mass (23130) EFO_0004324 2.18e-19 2.18 -19 -0.369 -0.472 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 115.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC45A2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 8.56e-19 8.56 -19 2.973 3.785 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 134.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ALPL Calcium (30680) EFO_0004838 1.25e-16 1.25 -16 0.315 0.254 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 965.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SPATA33 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 2.2500000000000002e-21 2.25 -21 0.657 0.716 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 548.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TYRP1 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 3.67e-26 3.67 -26 1.736 1.922 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 607.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON DGKD Calcium (30680) EFO_0004838 3.1e-16 3.1 -16 -0.501 -0.659 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 140.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 Alkaline phosphatase (30610) EFO_0004533 1.02e-25 1.02 -25 -0.057 -0.07 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 17862.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 C50: Malignant neoplasm of breast EFO_0003869 3.19e-28 3.19 -28 5.718 7.797 EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 76.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ALPL Alkaline phosphatase (30610) EFO_0004533 2.22e-150 2.22 -150 -2.117 -2.289 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 102.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GPLD1 Alkaline phosphatase (30610) EFO_0004533 1.5799999999999999e-62 1.58 -62 -0.605 -0.685 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 466.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON EDEM1 Alkaline phosphatase (30610) EFO_0004533 7.600000000000001e-28 7.6 -28 0.36 0.306 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 990.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CHEK2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 5.42e-20 5.42 -20 2.316 2.772 EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 170.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 D12: Benign neoplasm of colon, rectum, anus and anal canal EFO_0002422 5.3700000000000004e-27 5.37 -27 15.03 24.623 EUR HANCESTRO_0005 UK Biobank 450k GCST90079662 387680 16948 38.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASGR1 Alkaline phosphatase (30610) EFO_0004533 2.6e-34 2.6 -34 1.177 1.014 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 113.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON APOB Alkaline phosphatase (30610) EFO_0004533 3.57e-15 3.57 -15 -0.197 -0.262 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 700.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 C50: Malignant neoplasm of breast EFO_0003869 8.33e-19 8.33 -19 2.968 3.777 EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 103.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 C50: Malignant neoplasm of breast EFO_0003869 4.73e-14 4.73 -14 6.138 9.838 EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 33.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACVRL1 ICD10 I78: Diseases of capillaries EFO_0004264 7.770000000000001e-21 7.77 -21 269.523 869.779 EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 10.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACVRL1 ICD10 I78: Diseases of capillaries EFO_0004264 1.38e-16 1.38 -16 188.22 651.619 EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 8.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ENG ICD10 I78: Diseases of capillaries EFO_0004264 5.78e-17 5.78 -17 26.986 58.381 EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 15.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PIEZO1 Reticulocyte percentage (30240) EFO_0010700 5.66e-17 5.66 -17 0.064 0.052 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 23942.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Reticulocyte percentage (30240) EFO_0010700 1.44e-25 1.44 -25 0.279 0.235 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1754.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CALR Reticulocyte percentage (30240) EFO_0010700 7.25e-12 7.25 -12 0.999 0.777 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 69.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IFRD2 Reticulocyte percentage (30240) EFO_0010700 2.1300000000000002e-29 2.13 -29 0.364 0.31 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1171.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 3mm strong meridian left (5135) EFO_0004731 1.56e-15 1.56 -15 0.95 0.762 EUR HANCESTRO_0005 UK Biobank 450k GCST90079301 103531 103531 88.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SMAD6 3mm strong meridian left (5135) EFO_0004731 7.2e-18 7.2 -18 0.908 0.74 EUR HANCESTRO_0005 UK Biobank 450k GCST90079301 103531 103531 109.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 6.91e-14 6.91 -14 10.044 18.369 EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 20.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GMPR Reticulocyte percentage (30240) EFO_0010700 9.8e-77 9.8 -77 0.318 0.288 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 3714.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Reticulocyte percentage (30240) EFO_0010700 1.13e-12 1.13 -12 0.323 0.253 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 700.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON MC4R Impedance of leg right (23107) HP_0000924 4.68e-13 4.68 -13 -0.315 -0.431 EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 197.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MEPE Heel bone mineral density BMD T score automated right (4125) EFO_0009270 7.599999999999999e-24 7.6 -24 -0.279 -0.346 EUR HANCESTRO_0005 UK Biobank 450k GCST90079159 166358 166358 653.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MEPE Heel bone mineral density BMD T score automated right (4125) EFO_0009270 9.63e-22 9.63 -22 -0.245 -0.308 EUR HANCESTRO_0005 UK Biobank 450k GCST90079159 166358 166358 748.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FLCN ICD10 J93: Pneumothorax and air leak MONDO_0002076 1e-15 10.0 -16 50.325 131.018 EUR HANCESTRO_0005 UK Biobank 450k GCST90080153 387375 1190 11.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 Haematocrit percentage (30030) EFO_0004348 2.15e-15 2.15 -15 -0.118 -0.157 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1517.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON HBB Haematocrit percentage (30030) EFO_0004348 1.64e-27 1.64 -27 -0.764 -0.932 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TMPRSS6 Haematocrit percentage (30030) EFO_0004348 6.33e-13 6.33 -13 -0.212 -0.292 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 361.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CALR Haematocrit percentage (30030) EFO_0004348 1.88e-13 1.88 -13 -0.494 -0.673 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 71.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Haematocrit percentage (30030) EFO_0004348 2.71e-55 2.71 -55 -1.068 -1.221 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 98.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Haematocrit percentage (30030) EFO_0004348 1.48e-13 1.48 -13 -0.96 -1.307 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 19.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON HBB Haematocrit percentage (30030) EFO_0004348 1.64e-27 1.64 -27 -0.764 -0.932 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Haematocrit percentage (30030) EFO_0004348 1.64e-27 1.64 -27 -0.764 -0.932 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON EGLN1 Haematocrit percentage (30030) EFO_0004348 1.03e-14 1.03 -14 0.812 0.648 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 85.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TFR2 Haematocrit percentage (30030) EFO_0004348 2.02e-11 2.02 -11 0.115 0.089 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 3379.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 LDL direct (30780) EFO_0004611 1.12e-35 1.12 -35 -0.873 -1.036 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 126.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ANGPTL3 LDL direct (30780) EFO_0004611 2.83e-32 2.83 -32 -0.313 -0.375 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 862.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GIGYF1 LDL direct (30780) EFO_0004611 1.98e-16 1.98 -16 -0.47 -0.616 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 153.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PCSK9 LDL direct (30780) EFO_0004611 1.31e-72 1.31 -72 -0.903 -1.013 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 275.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANGPTL3 LDL direct (30780) EFO_0004611 3.5000000000000003e-44 3.5 -44 -0.276 -0.321 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 1640.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR Treatment or Medication Code - ezetimibe EFO_0007010 2.1e-26 2.1 -26 41.86 83.321 EUR HANCESTRO_0005 UK Biobank 450k GCST90078226 320758 2675 22.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON NPC1L1 LDL direct (30780) EFO_0004611 8.690000000000001e-21 8.69 -21 -0.112 -0.142 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 3787.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ASGR1 LDL direct (30780) EFO_0004611 2.33e-14 2.33 -14 -0.19 -0.256 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 765.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 LDL direct (30780) EFO_0004611 1.16e-163 1.16 -163 -0.928 -1.0 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 647.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 LDL direct (30780) EFO_0004611 3.23e-44 3.23 -44 -0.644 -0.75 AFR HANCESTRO_0010 UK Biobank 450k 8527 8527 319.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PCSK9 LDL direct (30780) EFO_0004611 1.33e-97 1.33 -97 -0.667 -0.735 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 708.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PCSK9 LDL direct (30780) EFO_0004611 2.34e-39 2.34 -39 -0.715 -0.84 AFR HANCESTRO_0010 UK Biobank 450k 8527 8527 225.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANGPTL3 LDL direct (30780) EFO_0004611 2.83e-32 2.83 -32 -0.313 -0.375 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 862.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOC3 LDL direct (30780) EFO_0004611 5.66e-18 5.66 -18 -0.134 -0.173 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 2150.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APOB Vitamin D (30890) EFO_0004631 1.47e-19 1.47 -19 0.165 0.136 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 4132.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB Vitamin D (30890) EFO_0004631 3.24e-52 3.24 -52 0.622 0.551 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 687.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOB Vitamin D (30890) EFO_0004631 3.24e-52 3.24 -52 0.622 0.551 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 687.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON NF1 Non cancer illness code self reported - other neurological problem/ICD10 G98 EFO_0000618 3.8700000000000004e-27 3.87 -27 47.632 96.096 EUR HANCESTRO_0005 UK Biobank 450k GCST90077843 329052 1701 21.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON BRCA2 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 2.95e-45 2.95 -45 6.87 8.978 EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 96.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOB Vitamin D (30890) EFO_0004631 3.24e-52 3.24 -52 0.622 0.551 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 687.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MSH6 Type of Cancer: Malignant neoplasm of corpus uteri (40006) EFO_0007532 6.2300000000000004e-27 6.23 -27 15.428 25.413 EUR HANCESTRO_0005 UK Biobank 450k GCST90079110 41005 1612 38.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 6.94e-62 6.94 -62 14.813 20.363 EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 82.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GC Vitamin D (30890) EFO_0004631 9.85e-15 9.85 -15 -0.385 -0.516 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 206.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MYO6 hearing loss (RGC) EFO_0004238 9.93e-18 9.93 -18 2.143 2.55 EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 282.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC4R TAG Severe Obesity (RGC) EFO_0001073 6.12e-18 6.12 -18 4.087 5.627 EUR HANCESTRO_0005 UK Biobank 450k GCST90081528 150526 7973 66.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 2.24e-19 2.24 -19 5.988 8.842 EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 44.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON POR Tea intake (1488) EFO_0010091 8.4e-20 8.4 -20 -0.071 -0.091 EUR HANCESTRO_0005 UK Biobank 450k GCST90077587 417958 417958 9180.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 6mm weak meridian left (5097) EFO_0004731 3.95e-15 3.95 -15 0.47 0.376 EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 349.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON POR Tea intake (1488) EFO_0010091 2.04e-13 2.04 -13 -0.079 -0.108 EUR HANCESTRO_0005 UK Biobank 450k GCST90077587 417958 417958 4192.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SMAD6 6mm weak meridian left (5097) EFO_0004731 9.87e-22 9.87 -22 0.724 0.601 EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 203.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PKD1 Treatment or Medication Code - prednisolone EFO_0007010 2.88e-15 2.88 -15 12.131 22.54 EUR HANCESTRO_0005 UK Biobank 450k GCST90078076 320758 2671 20.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IQGAP2 Albumin (30600) EFO_0004535 9.29e-17 9.29 -17 -0.065 -0.085 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 8719.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TNFRSF13B Albumin (30600) EFO_0004535 2.37e-22 2.37 -22 0.138 0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 6458.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON WNT1 Heel bone mineral density BMD (3148) EFO_0009270 3.58e-14 3.58 -14 -0.323 -0.436 EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 235.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ALB Albumin (30600) EFO_0004535 5.07e-171 5.07 -171 -2.107 -2.266 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 134.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ALB Albumin (30600) EFO_0004535 4.33e-33 4.33 -33 -1.208 -1.444 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 61.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ALB Albumin (30600) EFO_0004535 4.6500000000000004e-35 4.65 -35 -1.757 -2.088 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 31.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON IQGAP2 Albumin (30600) EFO_0004535 6.73e-17 6.73 -17 -0.168 -0.219 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 1292.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON STC2 Leg fat free mass left (23117) EFO_0004995 1.2e-18 1.2 -18 0.128 0.104 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 2488.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Leg fat free mass left (23117) EFO_0004995 1.3e-16 1.3 -16 0.429 0.346 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 197.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Leg fat free mass left (23117) EFO_0004995 2.58e-14 2.58 -14 -0.501 -0.674 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 44.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON PDE3B Leg fat free mass left (23117) EFO_0004995 1.62e-11 1.62 -11 0.148 0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 1200.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PAPPA2 Leg fat free mass left (23117) EFO_0004995 1.68e-11 1.68 -11 -0.063 -0.089 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 2008.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPTA1 High light scatter reticulocyte percentage (30290) EFO_0010700 4.5e-29 4.5 -29 0.714 0.608 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 299.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON HBB High light scatter reticulocyte percentage (30290) EFO_0010700 5.38e-13 5.38 -13 0.876 0.689 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 96.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON RIOK3 High light scatter reticulocyte percentage (30290) EFO_0010700 1.84e-22 1.84 -22 0.143 0.119 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 5835.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GIGYF1 Glucose (30740) EFO_0004468 1.39e-14 1.39 -14 0.775 0.618 EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 144.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IFRD2 High light scatter reticulocyte percentage (30290) EFO_0010700 4.1199999999999996e-104 4.12 -104 0.446 0.409 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 2475.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BSN High light scatter reticulocyte percentage (30290) EFO_0010700 4.81e-12 4.81 -12 -0.033 -0.046 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 20338.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RNF10 High light scatter reticulocyte percentage (30290) EFO_0010700 5.51e-16 5.51 -16 1.214 0.977 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 60.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON EIF2AK1 High light scatter reticulocyte percentage (30290) EFO_0010700 2.01e-11 2.01 -11 0.56 0.434 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 209.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON RNF10 High light scatter reticulocyte percentage (30290) EFO_0010700 2.34e-12 2.34 -12 0.91 0.711 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 85.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB High light scatter reticulocyte percentage (30290) EFO_0010700 5.38e-13 5.38 -13 0.876 0.689 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 96.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MAP3K15 Glucose (30740) EFO_0004468 1.74e-25 1.74 -25 -0.073 -0.09 EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 6885.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SPTA1 High light scatter reticulocyte percentage (30290) EFO_0010700 1.0600000000000001e-35 1.06 -35 0.71 0.613 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 365.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON R3HDM4 High light scatter reticulocyte percentage (30290) EFO_0010700 4.99e-12 4.99 -12 0.618 0.481 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 181.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CALR High light scatter reticulocyte percentage (30290) EFO_0010700 2.82e-15 2.82 -15 1.112 0.891 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 69.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Immature reticulocyte fraction (30280) EFO_0010700 3.87e-16 3.87 -16 0.982 0.792 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 96.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IFRD2 Immature reticulocyte fraction (30280) EFO_0010700 9.53e-26 9.53 -26 0.347 0.292 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 1171.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON G6PC2 Glucose (30740) EFO_0004468 1.4900000000000001e-43 1.49 -43 -0.221 -0.258 EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 2689.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON EIF2AK1 High light scatter reticulocyte percentage (30290) EFO_0010700 1.1e-14 1.1 -14 0.284 0.227 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1015.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 High light scatter reticulocyte percentage (30290) EFO_0010700 1.73e-25 1.73 -25 0.276 0.233 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1767.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC34A3 Creatinine (30700) EFO_0004518 4.6899999999999994e-23 4.69 -23 0.292 0.244 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 940.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Trunk fat percentage (23127) EFO_0004324 2.12e-11 2.12 -11 0.213 0.165 EUR HANCESTRO_0005 UK Biobank 450k GCST90078930 423451 423451 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MSTN Creatinine (30700) EFO_0004518 9.12e-14 9.12 -14 0.135 0.107 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 2785.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LRP2 Creatinine (30700) EFO_0004518 1.07e-20 1.07 -20 -0.249 -0.316 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 502.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC34A3 Creatinine (30700) EFO_0004518 9.969999999999999e-40 9.97 -40 0.193 0.168 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 3539.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CLDN10 Creatinine (30700) EFO_0004518 4.68e-13 4.68 -13 0.689 0.542 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 101.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON G6PC Creatinine (30700) EFO_0004518 5.25e-14 5.25 -14 -0.11 -0.149 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 1452.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LRP2 Creatinine (30700) EFO_0004518 1.78e-40 1.78 -40 -0.073 -0.085 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 14558.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 Creatinine (30700) EFO_0004518 3.1500000000000004e-36 3.15 -36 0.622 0.538 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 311.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC22A2 Creatinine (30700) EFO_0004518 2.55e-49 2.55 -49 0.324 0.286 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 1526.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC34A3 Creatinine (30700) EFO_0004518 2.1e-16 2.1 -16 0.215 0.173 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 1281.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NF1 ICD10 D36.1: Benign neoplasm of peripheral nerves and autonomic nervous system EFO_0002422 9.5e-29 9.5 -29 9.787 14.628 EUR HANCESTRO_0005 UK Biobank 450k GCST90079694 387929 616 45.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 3.6400000000000002e-47 3.64 -47 3.049 3.548 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 274.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 9.62e-22 9.62 -22 3.205 4.068 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 112.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON NF1 ICD10 D36.1: Benign neoplasm of peripheral nerves and autonomic nervous system EFO_0002422 4.4e-43 4.4 -43 25.443 40.344 EUR HANCESTRO_0005 UK Biobank 450k GCST90079694 387929 616 42.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.08e-18 1.08 -18 1.508 1.651 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 604.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NF1 ICD10 D36.1: Benign neoplasm of peripheral nerves and autonomic nervous system EFO_0002422 9.5e-29 9.5 -29 9.787 14.628 EUR HANCESTRO_0005 UK Biobank 450k GCST90079694 387929 616 45.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SRSF2 ICD10 D64: Other anemias EFO_0004272 1.65e-11 1.65 -11 4.426 6.824 EUR HANCESTRO_0005 UK Biobank 450k GCST90079712 384878 15647 35.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR ICD10 Z95.1: Presence of aortocoronary bypass graft EFO_0002571 3.87e-12 3.87 -12 6.511 11.051 EUR HANCESTRO_0005 UK Biobank 450k GCST90081420 387919 5314 25.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MEPE Heel broadband ultrasound attenuation right (4120) EFO_0004514 2.59e-18 2.59 -18 -0.216 -0.278 EUR HANCESTRO_0005 UK Biobank 450k GCST90079155 166349 166349 748.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MLH1 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.6e-20 1.6 -20 16.436 29.676 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 30.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GCK OralDiabetes Med (RGC) EFO_0007010 1.08e-14 1.08 -14 17.816 36.981 EUR HANCESTRO_0005 UK Biobank 450k GCST90081503 320758 13132 18.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GCK OralDiabetes Med (RGC) EFO_0007010 7.06e-15 7.06 -15 5.159 7.798 EUR HANCESTRO_0005 UK Biobank 450k GCST90081503 320758 13132 40.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GHRH Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 7.47e-13 7.47 -13 -0.257 -0.354 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 58.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SBNO2 Lymphocyte count (30120) EFO_0004587 1.95e-14 1.95 -14 0.231 0.184 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 1535.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GCK OralDiabetes Med (RGC) EFO_0007010 1.08e-14 1.08 -14 17.816 36.981 EUR HANCESTRO_0005 UK Biobank 450k GCST90081503 320758 13132 18.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ANKRD12 Townsend deprivation index at recruitment (189) EFO_0009711 3.55e-14 3.55 -14 0.518 0.412 EUR HANCESTRO_0005 UK Biobank 450k GCST90077617 430494 430494 318.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON NOTCH1 Lymphocyte count (30120) EFO_0004587 9.239999999999999e-30 9.24 -30 1.813 1.546 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 47.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SIGIRR Lymphocyte count (30120) EFO_0004587 2.29e-13 2.29 -13 -0.132 -0.181 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 1447.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RASA3 Lymphocyte count (30120) EFO_0004587 2.58e-14 2.58 -14 -0.33 -0.444 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 257.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CHD2 Lymphocyte count (30120) EFO_0004587 1.97e-15 1.97 -15 1.445 1.159 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 41.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON SBNO2 Lymphocyte count (30120) EFO_0004587 6.92e-14 6.92 -14 0.187 0.148 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 2259.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CHEK2 Lymphocyte count (30120) EFO_0004587 9.85e-12 9.85 -12 0.124 0.096 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 5035.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 4.28e-12 4.28 -12 0.26 0.203 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 165.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GCK OralDiabetes Med (RGC) EFO_0007010 1.08e-14 1.08 -14 17.816 36.981 EUR HANCESTRO_0005 UK Biobank 450k GCST90081503 320758 13132 18.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APC ICD10 Z09.0: Follow-up examination after surgery for other conditions (Z09.0) EFO_0004542 1.39e-11 1.39 -11 12.039 24.77 EUR HANCESTRO_0005 UK Biobank 450k GCST90081201 387930 5895 15.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APC ICD10 Z09.0: Follow-up examination after surgery for other conditions (Z09.0) EFO_0004542 7.25e-12 7.25 -12 16.558 36.955 EUR HANCESTRO_0005 UK Biobank 450k GCST90081201 387930 5895 13.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON LDLR Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 1.03e-66 1.03 -66 3.273 3.744 EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 412.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PCSK9 Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 1.26e-14 1.26 -14 0.254 0.36 EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 22.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APOB Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 3.95e-21 3.95 -21 0.174 0.25 EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 17.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HNF1A DD DM - Yes (2443) EFO_0000400 3.72e-13 3.72 -13 6.853 11.518 EUR HANCESTRO_0005 UK Biobank 450k GCST90078949 429739 22058 28.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 2.54e-78 2.54 -78 3.182 3.592 EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 510.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK DD DM - Yes (2443) EFO_0000400 1.2299999999999998e-23 1.23 -23 22.735 41.882 EUR HANCESTRO_0005 UK Biobank 450k GCST90078949 429739 22058 29.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 corneal power (RGC) EFO_0004731 4.78e-16 4.78 -16 0.956 0.77 EUR HANCESTRO_0005 UK Biobank 450k GCST90081537 103531 103531 88.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON THBS4 corneal power (RGC) EFO_0004731 1.3e-20 1.3 -20 -0.221 -0.28 EUR HANCESTRO_0005 UK Biobank 450k GCST90081537 103531 103531 889.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON FLG ICD10 L20: Atopic dermatitis EFO_0000274 1.57e-16 1.57 -16 2.006 2.367 EUR HANCESTRO_0005 UK Biobank 450k GCST90080337 378953 2972 179.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 corneal power (RGC) EFO_0004731 1.1200000000000001e-22 1.12 -22 0.682 0.568 EUR HANCESTRO_0005 UK Biobank 450k GCST90081537 103531 103531 236.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON RHAG Glycated haemoglobin HbA1c (30750) EFO_0004541 1.18e-50 1.18 -50 -0.791 -0.91 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 207.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HK1 Glycated haemoglobin HbA1c (30750) EFO_0004541 4.19e-15 4.19 -15 -0.598 -0.797 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 76.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SPTA1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.72e-47 1.72 -47 -0.575 -0.665 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 364.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PIEZO1 Glycated haemoglobin HbA1c (30750) EFO_0004541 3.17e-135 3.17 -135 -0.132 -0.144 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 23939.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APEH Glycated haemoglobin HbA1c (30750) EFO_0004541 2.96e-15 2.96 -15 0.281 0.225 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 945.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HK1 Glycated haemoglobin HbA1c (30750) EFO_0004541 6.1e-16 6.1 -16 -0.26 -0.343 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 435.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ATP11C Glycated haemoglobin HbA1c (30750) EFO_0004541 1.45e-14 1.45 -14 -0.49 -0.657 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 71.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PLD1 Glycated haemoglobin HbA1c (30750) EFO_0004541 6.840000000000001e-29 6.84 -29 0.116 0.099 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 9927.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GIGYF1 Glycated haemoglobin HbA1c (30750) EFO_0004541 2.82e-25 2.82 -25 0.866 0.728 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 156.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TFR2 Glycated haemoglobin HbA1c (30750) EFO_0004541 2.06e-13 2.06 -13 -0.082 -0.112 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 3307.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON G6PD Glycated haemoglobin HbA1c (30750) EFO_0004541 4.85e-17 4.85 -17 -0.46 -0.6 SAS HANCESTRO_0006 UK Biobank 450k 9729 9729 98.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON EPB41 Glycated haemoglobin HbA1c (30750) EFO_0004541 3.1500000000000004e-27 3.15 -27 -0.584 -0.714 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 176.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC4A1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.17e-18 1.17 -18 -0.624 -0.802 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 93.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON G6PD Glycated haemoglobin HbA1c (30750) EFO_0004541 4.85e-17 4.85 -17 -0.46 -0.6 SAS HANCESTRO_0006 UK Biobank 450k 9729 9729 98.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC30A8 Glycated haemoglobin HbA1c (30750) EFO_0004541 5.22e-17 5.22 -17 -0.202 -0.264 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 775.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TSHR ICD10 E03: Other hypothyroidism EFO_0004705 1.13e-14 1.13 -14 2.298 2.839 EUR HANCESTRO_0005 UK Biobank 450k GCST90079722 383065 21010 126.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD2 ICD10 Q61: Cystic kidney disease EFO_0008615 1.95e-69 1.95 -69 380.586 737.228 EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 34.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PKD2 ICD10 Q61: Cystic kidney disease EFO_0008615 3.36e-37 3.36 -37 23.785 38.723 EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 37.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APC ICD10 K31.7: Polyp of stomach and duodenum MONDO_0008277 3.37e-12 3.37 -12 17.688 39.717 EUR HANCESTRO_0005 UK Biobank 450k GCST90080210 387782 6198 13.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON PKD1 ICD10 Q61: Cystic kidney disease EFO_0008615 6.7e-117 6.7 -117 126.218 190.675 EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 72.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON MC4R Leg fat percentage right (23111) EFO_0007800 9.02e-17 9.02 -17 0.173 0.14 EUR HANCESTRO_0005 UK Biobank 450k GCST90078914 423666 423666 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Leg fat percentage right (23111) EFO_0007800 9.02e-17 9.02 -17 0.173 0.14 EUR HANCESTRO_0005 UK Biobank 450k GCST90078914 423666 423666 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN ICD10 I50: Heart failure EFO_0003144 3.07e-34 3.07 -34 3.369 4.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90080023 387076 8159 156.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PKD1 ICD10 Z94: Transplanted organ and tissue status EFO_0002571 1.06e-61 1.06 -61 57.077 92.078 EUR HANCESTRO_0005 UK Biobank 450k GCST90081418 387906 1305 47.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 ICD10 Z94: Transplanted organ and tissue status EFO_0002571 1.06e-61 1.06 -61 57.077 92.078 EUR HANCESTRO_0005 UK Biobank 450k GCST90081418 387906 1305 47.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Systolic blood pressure automated reading (4080) EFO_0006335 1.93e-15 1.93 -15 -0.106 -0.141 EUR HANCESTRO_0005 UK Biobank 450k GCST90079146 408211 408211 2574.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON IL33 ICD10 J45: Asthma MONDO_0004979 1.32e-11 1.32 -11 0.695 0.772 EUR HANCESTRO_0005 UK Biobank 450k GCST90080141 383974 39436 343.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Systolic blood pressure automated reading (4080) EFO_0006335 3.53e-13 3.53 -13 -0.073 -0.1 EUR HANCESTRO_0005 UK Biobank 450k GCST90079146 408211 408211 4262.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MFRP SphericalEquivalent r (RGC) EFO_0004731 2.06e-11 2.06 -11 0.328 0.254 EUR HANCESTRO_0005 UK Biobank 450k GCST90081512 107475 107475 608.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON COL21A1 Systolic blood pressure automated reading (4080) EFO_0006335 1.04e-22 1.04 -22 0.165 0.138 EUR HANCESTRO_0005 UK Biobank 450k GCST90079146 408211 408211 4099.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR DD vascular heart problems - Angina (6150) EFO_0003913 1.29e-14 1.29 -14 2.334 2.895 EUR HANCESTRO_0005 UK Biobank 450k GCST90079443 129643 14103 132.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Weight (23098) EFO_0004338 7.43e-16 7.43 -16 0.581 0.467 EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 197.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 2.23e-20 2.23 -20 4.664 6.463 EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 58.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Weight (23098) EFO_0004338 7.43e-16 7.43 -16 0.581 0.467 EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 197.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PDE3B Weight (23098) EFO_0004338 3.34e-13 3.34 -13 0.166 0.131 EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 2067.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 ICD10 Z72.0: Tobacco use EFO_0007869 3.61e-12 3.61 -12 2.045 2.501 EUR HANCESTRO_0005 UK Biobank 450k GCST90081310 377012 21842 131.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON NR1H4 Testosterone (30850) EFO_0004908 1.23e-15 1.23 -15 -0.049 -0.064 EUR HANCESTRO_0005 UK Biobank 450k GCST90079042 373826 373826 5475.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SHBG Testosterone (30850) EFO_0004908 1.61e-12 1.61 -12 -0.19 -0.263 EUR HANCESTRO_0005 UK Biobank 450k GCST90079042 373826 373826 256.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IL33 Non cancer illness code self reported - asthma MONDO_0004979 1.97e-12 1.97 -12 0.709 0.78 EUR HANCESTRO_0005 UK Biobank 450k GCST90077671 331754 50973 448.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS17 Forced vital capacity FVC Best measure (20151) EFO_0004312 1.08e-14 1.08 -14 -0.068 -0.092 EUR HANCESTRO_0005 UK Biobank 450k GCST90078317 322002 322002 3138.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FLG ChildhoodAsthmaCases vs AllergicDiseaseControls (RGC) MONDO_0005405 7.93e-28 7.93 -28 1.563 1.694 EUR HANCESTRO_0005 UK Biobank 450k GCST90081473 297425 16952 787.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IL33 ChildhoodAsthmaCases vs AllergicDiseaseControls (RGC) MONDO_0005405 4.21e-13 4.21 -13 0.542 0.639 EUR HANCESTRO_0005 UK Biobank 450k GCST90081473 297425 16952 121.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IL33 ChildhoodAsthmaCases vs AllergicDiseaseControls (RGC) MONDO_0005405 2.63e-13 2.63 -13 0.539 0.636 EUR HANCESTRO_0005 UK Biobank 450k GCST90081473 297425 16952 121.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Forced vital capacity FVC Best measure (20151) EFO_0004312 9.65e-18 9.65 -18 0.098 0.08 EUR HANCESTRO_0005 UK Biobank 450k GCST90078317 322002 322002 5104.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IL33 Non cancer illness code self reported - asthma MONDO_0004979 1.29e-12 1.29 -12 0.707 0.778 EUR HANCESTRO_0005 UK Biobank 450k GCST90077671 331754 50973 449.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FLG Non cancer illness code self reported - asthma MONDO_0004979 1.08e-16 1.08 -16 1.244 1.31 EUR HANCESTRO_0005 UK Biobank 450k GCST90077671 331754 50973 1976.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ANKRD12 Touchscreen duration (630) EFO_0000689 1.1e-15 1.1 -15 0.494 0.397 EUR HANCESTRO_0005 UK Biobank 450k GCST90079491 430751 430751 318.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Impedance of leg left (23108) HP_0000924 1.19e-11 1.19 -11 0.098 0.076 EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 5849.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Impedance of leg left (23108) HP_0000924 4.8e-27 4.8 -27 -0.243 -0.297 EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MSH2 ICD10 Z80.0: Family history of malignant neoplasm of digestive organs EFO_0009640 3.19e-23 3.19 -23 13.344 22.258 EUR HANCESTRO_0005 UK Biobank 450k GCST90081329 385471 9455 32.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MSH2 ICD10 Z80.0: Family history of malignant neoplasm of digestive organs EFO_0009640 7.65e-13 7.65 -13 4.742 7.257 EUR HANCESTRO_0005 UK Biobank 450k GCST90081329 385471 9455 35.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MSH6 ICD10 Z80.0: Family history of malignant neoplasm of digestive organs EFO_0009640 1.37e-11 1.37 -11 5.053 8.081 EUR HANCESTRO_0005 UK Biobank 450k GCST90081329 385471 9455 29.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SHBG Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 1.08e-11 1.08 -11 0.122 0.095 EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 4045.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON COL6A1 Corneal resistance factor right (5257) EFO_0010067 3.24e-30 3.24 -30 -1.028 -1.24 EUR HANCESTRO_0005 UK Biobank 450k GCST90079336 105888 105888 75.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Arm fat free mass right (23121) EFO_0004995 1.67e-13 1.67 -13 0.327 0.258 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 257.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGFALS Arm fat free mass right (23121) EFO_0004995 2.76e-13 2.76 -13 -0.068 -0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 1957.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Arm fat free mass right (23121) EFO_0004995 8.73e-25 8.73 -25 0.172 0.145 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 1594.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Arm fat free mass right (23121) EFO_0004995 5.14e-20 5.14 -20 -0.053 -0.068 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 5844.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON DDR2 Standing height (50) EFO_0004339 3.01e-18 3.01 -18 -0.192 -0.248 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 419.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON DDR2 Standing height (50) EFO_0004339 1.28e-12 1.28 -12 -0.407 -0.563 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 54.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS6 Standing height (50) EFO_0004339 2.2e-23 2.2 -23 -0.058 -0.072 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 6508.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SERPINH1 Standing height (50) EFO_0004339 9.97e-14 9.97 -14 -0.21 -0.286 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 226.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACAN Standing height (50) EFO_0004339 6.05e-53 6.05 -53 -0.719 -0.824 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 116.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADAMTS17 Standing height (50) EFO_0004339 4.55e-17 4.55 -17 -0.265 -0.346 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 198.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SHOX Standing height (50) EFO_0004339 3.24e-23 3.24 -23 -0.878 -1.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 27.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NF1 Standing height (50) EFO_0004339 1.47e-13 1.47 -13 -0.092 -0.125 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1173.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ADAMTS17 Standing height (50) EFO_0004339 1.74e-53 1.74 -53 -0.157 -0.179 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2487.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NPR3 Standing height (50) EFO_0004339 2.85e-22 2.85 -22 0.26 0.216 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 679.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANGPTL2 Standing height (50) EFO_0004339 1.07e-17 1.07 -17 -0.091 -0.118 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1769.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON B4GALNT3 Standing height (50) EFO_0004339 1.7e-25 1.7 -25 0.116 0.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 3903.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Standing height (50) EFO_0004339 5.6200000000000006e-21 5.62 -21 0.5 0.414 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 172.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TMEM206 Standing height (50) EFO_0004339 6.15e-13 6.15 -13 -0.054 -0.074 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 3238.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SCUBE3 Standing height (50) EFO_0004339 5.13e-16 5.13 -16 -0.325 -0.429 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 121.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON NF1 Standing height (50) EFO_0004339 2.7e-15 2.7 -15 -0.291 -0.387 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 140.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON SCUBE3 Standing height (50) EFO_0004339 5.13e-16 5.13 -16 -0.325 -0.429 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 121.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON B4GALNT3 Standing height (50) EFO_0004339 1.7e-25 1.7 -25 0.116 0.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 3903.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADAMTS10 Standing height (50) EFO_0004339 3.39e-13 3.39 -13 -0.065 -0.088 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2422.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GFPT2 Standing height (50) EFO_0004339 6.14e-13 6.14 -13 -0.056 -0.077 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2959.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IRS1 Standing height (50) EFO_0004339 8.89e-16 8.89 -16 -0.372 -0.491 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 91.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Standing height (50) EFO_0004339 3.57e-29 3.57 -29 0.47 0.4 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 263.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET1 Standing height (50) EFO_0004339 2.92e-15 2.92 -15 0.395 0.316 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 208.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON COL27A1 Standing height (50) EFO_0004339 1.28e-12 1.28 -12 -0.22 -0.305 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 182.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADAMTS10 Standing height (50) EFO_0004339 5.89e-29 5.89 -29 -0.215 -0.261 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 612.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CRISPLD1 Standing height (50) EFO_0004339 3.0999999999999997e-24 3.1 -24 -0.144 -0.178 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1084.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET1 Standing height (50) EFO_0004339 1.04e-13 1.04 -13 0.251 0.198 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 469.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON DDR2 Standing height (50) EFO_0004339 1.28e-12 1.28 -12 -0.407 -0.563 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 54.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SERPINH1 Standing height (50) EFO_0004339 2.72e-15 2.72 -15 -0.145 -0.193 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 558.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MEPE Speed of sound through heel right (4122) EFO_0005654 1.4500000000000002e-21 1.45 -21 -0.247 -0.31 EUR HANCESTRO_0005 UK Biobank 450k GCST90079156 166358 166358 748.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON WNT1 Speed of sound through heel right (4122) EFO_0005654 1.7e-11 1.7 -11 -0.328 -0.463 EUR HANCESTRO_0005 UK Biobank 450k GCST90079156 166358 166358 167.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH6 Self Report - uterine endometrial cancer (20001) EFO_0002919 1.5e-12 1.5 -12 9.05 16.66 EUR HANCESTRO_0005 UK Biobank 450k GCST90077633 39614 1131 23.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON FLCN Non cancer illness code self reported - spontaneous pneumothorax recurrent pneumothorax HP_0002108 4.13e-15 4.13 -15 10.782 19.522 EUR HANCESTRO_0005 UK Biobank 450k GCST90077685 331754 1058 21.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON FLG AsthmaCases vs AllergicDiseaseControls (RGC) MONDO_0004979 9.7e-18 9.7 -18 1.266 1.336 EUR HANCESTRO_0005 UK Biobank 450k GCST90081459 328314 47628 1808.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PRSS56 3mm weak meridian right (5099) EFO_0004731 7.62e-12 7.62 -12 0.577 0.449 EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 188.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON THBS4 3mm weak meridian right (5099) EFO_0004731 1.52e-11 1.52 -11 -0.11 -0.155 EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 1531.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PRSS56 3mm weak meridian right (5099) EFO_0004731 7.62e-12 7.62 -12 0.577 0.449 EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 188.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R TAG Obesity (RGC) EFO_0001073 6.22e-13 6.22 -13 4.512 6.802 EUR HANCESTRO_0005 UK Biobank 450k GCST90081522 246639 104086 86.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R TAG Obesity (RGC) EFO_0001073 5.37e-22 5.37 -22 2.193 2.572 EUR HANCESTRO_0005 UK Biobank 450k GCST90081522 246639 104086 452.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 I51: Complications and ill-defined descriptions of heart disease EFO_0003777 6.81e-13 6.81 -13 2.354 2.973 EUR HANCESTRO_0005 UK Biobank 450k GCST90080027 385880 6712 96.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TYRP1 Hair colour natural before greying - Dark brown (1747) EFO_0007822 1.35e-16 1.35 -16 0.362 0.46 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 82.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC1R Hair colour natural before greying - Dark brown (1747) EFO_0007822 7.54e-173 7.54 -173 0.412 0.438 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 1306.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON OCA2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 6.55e-26 6.55 -26 0.196 0.266 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 36.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC1R Hair colour natural before greying - Dark brown (1747) EFO_0007822 7.71e-14 7.71 -14 0.432 0.539 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 121.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TYR Hair colour natural before greying - Dark brown (1747) EFO_0007822 3e-21 3.0 -21 0.659 0.718 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 839.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC12A9 Hair colour natural before greying - Dark brown (1747) EFO_0007822 6.779999999999999e-23 6.78 -23 0.612 0.675 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 641.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC12A9 Hair colour natural before greying - Dark brown (1747) EFO_0007822 1.01e-13 1.01 -13 0.528 0.625 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 205.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ACSF3 Hair colour natural before greying - Dark brown (1747) EFO_0007822 4.5e-13 4.5 -13 0.841 0.881 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 3104.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FLT3 Monocyte percentage (30190) EFO_0007989 6.18e-18 6.18 -18 0.335 0.273 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 814.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CCR2 Monocyte percentage (30190) EFO_0007989 4.68e-19 4.68 -19 -0.191 -0.245 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 1084.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Monocyte percentage (30190) EFO_0007989 5.2200000000000005e-31 5.22 -31 0.314 0.268 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 1515.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ATP11C Direct bilirubin (30660) EFO_0004570 5.46e-16 5.46 -16 0.439 0.353 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 241.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ABCC2 Direct bilirubin (30660) EFO_0004570 2.5399999999999997e-23 2.54 -23 0.127 0.106 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 5858.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NR1I3 Direct bilirubin (30660) EFO_0004570 2.76e-13 2.76 -13 0.253 0.199 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 887.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A6 Direct bilirubin (30660) EFO_0004570 9.88e-12 9.88 -12 0.511 0.397 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 245.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Direct bilirubin (30660) EFO_0004570 2.05e-12 2.05 -12 0.808 0.632 SAS HANCESTRO_0006 UK Biobank 450k 8157 8157 95.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON NR1I3 Direct bilirubin (30660) EFO_0004570 2.76e-13 2.76 -13 0.253 0.199 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 887.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLCO1B3 Direct bilirubin (30660) EFO_0004570 4.34e-31 4.34 -31 0.34 0.291 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1074.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON UGT1A10 Direct bilirubin (30660) EFO_0004570 5.83e-33 5.83 -33 0.434 0.373 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 850.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A1 Direct bilirubin (30660) EFO_0004570 4.58e-43 4.58 -43 0.432 0.378 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1103.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ABCC2 Direct bilirubin (30660) EFO_0004570 5.81e-16 5.81 -16 0.238 0.192 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1175.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A5 Direct bilirubin (30660) EFO_0004570 5.99e-18 5.99 -18 0.251 0.205 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1488.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A6 Direct bilirubin (30660) EFO_0004570 2.78e-38 2.78 -38 0.399 0.347 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1161.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPTA1 Direct bilirubin (30660) EFO_0004570 1.8399999999999998e-23 1.84 -23 0.591 0.494 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 269.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON COL6A1 Corneal hysteresis left (5264) EFO_0010066 9.53e-13 9.53 -13 -0.965 -1.331 EUR HANCESTRO_0005 UK Biobank 450k GCST90079339 105697 105697 26.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON APOB Direct bilirubin (30660) EFO_0004570 2.07e-44 2.07 -44 0.571 0.501 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 649.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON UGT1A8 Direct bilirubin (30660) EFO_0004570 3.08e-33 3.08 -33 0.379 0.326 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1136.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Direct bilirubin (30660) EFO_0004570 2.05e-12 2.05 -12 0.808 0.632 SAS HANCESTRO_0006 UK Biobank 450k 8157 8157 95.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON COL6A1 Corneal hysteresis left (5264) EFO_0010066 1.09e-25 1.09 -25 -0.948 -1.166 EUR HANCESTRO_0005 UK Biobank 450k GCST90079339 105697 105697 73.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON JAK2 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 4.19e-149 4.19 -149 27.539 35.357 EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 144.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CALR ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 4.3799999999999995e-61 4.38 -61 387.89 787.79 EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 31.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APC ICD10 D13: Benign neoplasm of other and ill-defined parts of digestive system EFO_0002422 2.3300000000000002e-29 2.33 -29 71.302 149.957 EUR HANCESTRO_0005 UK Biobank 450k GCST90079664 387696 1532 20.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APC ICD10 D13: Benign neoplasm of other and ill-defined parts of digestive system EFO_0002422 2.3300000000000002e-29 2.33 -29 71.302 149.957 EUR HANCESTRO_0005 UK Biobank 450k GCST90079664 387696 1532 20.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Arm predicted mass left (23126) EFO_0004302 3.37e-13 3.37 -13 0.422 0.333 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 157.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Arm predicted mass left (23126) EFO_0004302 2.96e-60 2.96 -60 0.129 0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 6709.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Arm predicted mass left (23126) EFO_0004302 5.75e-13 5.75 -13 0.447 0.351 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 138.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON JAK2 Platelet distribution width (30110) EFO_0007984 1.13e-15 1.13 -15 0.191 0.154 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 2164.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GP1BA Platelet distribution width (30110) EFO_0007984 3.06e-17 3.06 -17 0.978 0.794 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 91.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TUBB1 Platelet distribution width (30110) EFO_0007984 2.2300000000000002e-307 2.23 -307 1.953 1.862 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 382.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON DOCK5 Platelet distribution width (30110) EFO_0007984 3.97e-12 3.97 -12 -0.214 -0.298 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 433.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON DENND4B Platelet distribution width (30110) EFO_0007984 4.54e-14 4.54 -14 -0.158 -0.214 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1020.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SNAP29 Platelet distribution width (30110) EFO_0007984 9.95e-15 9.95 -15 -0.076 -0.102 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 4584.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CD36 Platelet distribution width (30110) EFO_0007984 8.91e-16 8.91 -16 0.224 0.18 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1621.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MSH6 ICD10 C54: Malignant neoplasm of corpus uteri EFO_0007532 9.19e-29 9.19 -29 21.079 36.06 EUR HANCESTRO_0005 UK Biobank 450k GCST90079608 211679 1515 31.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 2.94e-13 2.94 -13 -1.536 -2.1 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 14.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CLSPN Mean corpuscular haemoglobin (30050) EFO_0004527 2.18e-11 2.18 -11 0.44 0.341 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 298.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TERT Mean corpuscular haemoglobin (30050) EFO_0004527 9.46e-18 9.46 -18 0.598 0.486 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 241.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MED17 Mean corpuscular haemoglobin (30050) EFO_0004527 1.7100000000000003e-21 1.71 -21 -0.427 -0.538 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 243.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TFRC Mean corpuscular haemoglobin (30050) EFO_0004527 5.68e-55 5.68 -55 -1.294 -1.479 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 87.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 1.04e-103 1.04 -103 -1.922 -2.114 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TFRC Mean corpuscular haemoglobin (30050) EFO_0004527 3.17e-15 3.17 -15 -0.163 -0.216 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1038.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TFR2 Mean corpuscular haemoglobin (30050) EFO_0004527 6.44e-14 6.44 -14 0.442 0.35 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 356.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON POLE Mean corpuscular haemoglobin (30050) EFO_0004527 1.15e-16 1.15 -16 0.344 0.278 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 689.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 2.94e-13 2.94 -13 -1.536 -2.1 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 14.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 6.53e-227 6.53 -227 -2.689 -2.863 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 98.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 4.45e-15 4.45 -15 -1.548 -2.064 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBA2 Mean corpuscular haemoglobin (30050) EFO_0004527 2.2e-17 2.2 -17 -0.223 -0.29 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1039.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RTEL1 Mean corpuscular haemoglobin (30050) EFO_0004527 1.29e-18 1.29 -18 0.243 0.199 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1520.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NPC1 Mean corpuscular haemoglobin (30050) EFO_0004527 3.97e-12 3.97 -12 -0.089 -0.124 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 2745.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HSPA9 Mean corpuscular haemoglobin (30050) EFO_0004527 1.3399999999999999e-24 1.34 -24 -0.478 -0.592 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 232.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON POLE Mean corpuscular haemoglobin (30050) EFO_0004527 1.15e-16 1.15 -16 0.344 0.278 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 689.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Trunk fat free mass (23129) EFO_0004995 1.56e-16 1.56 -16 0.36 0.291 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 257.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SIX6 MeanSphericalEquivalent 0 (RGC) EFO_0004731 2.17e-19 2.17 -19 -0.182 -0.232 EUR HANCESTRO_0005 UK Biobank 450k GCST90081496 93186 93186 1318.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Trunk fat free mass (23129) EFO_0004995 4.15e-18 4.15 -18 -0.571 -0.737 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 44.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON ZFAT Trunk fat free mass (23129) EFO_0004995 3.75e-29 3.75 -29 0.186 0.159 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 1594.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PIEZO1 Trunk fat free mass (23129) EFO_0004995 3.66e-19 3.66 -19 -0.026 -0.033 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 24576.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 Speed of sound through heel (3146) EFO_0005654 8.09e-12 8.09 -12 -0.152 -0.214 EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 815.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Trunk fat free mass (23129) EFO_0004995 5.7e-15 5.7 -15 0.423 0.338 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 170.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PIEZO1 Trunk fat free mass (23129) EFO_0004995 9.44e-13 9.44 -13 -0.043 -0.059 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 4682.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Trunk fat free mass (23129) EFO_0004995 2.33e-21 2.33 -21 -0.135 -0.17 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 995.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 Speed of sound through heel (3146) EFO_0005654 1.79e-12 1.79 -12 -0.309 -0.428 EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 215.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PRPH2 Eye problems disorders - Macular degeneration (6148) EFO_0009606 7.78e-13 7.78 -13 43.337 121.513 EUR HANCESTRO_0005 UK Biobank 450k GCST90079434 37798 4185 15.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Arm predicted mass right (23122) EFO_0004302 2.33e-28 2.33 -28 -0.099 -0.121 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 2642.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACAN Arm predicted mass right (23122) EFO_0004302 6.12e-17 6.12 -17 -0.538 -0.703 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 44.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON IGF1R Arm predicted mass right (23122) EFO_0004302 3.2e-19 3.2 -19 -0.124 -0.159 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 995.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 Mothers age at death (3526) EFO_0007796 4.45e-26 4.45 -26 -0.273 -0.335 EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 908.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Arm predicted mass right (23122) EFO_0004302 1.92e-13 1.92 -13 0.325 0.256 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 257.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Arm predicted mass right (23122) EFO_0004302 2.59e-20 2.59 -20 0.18 0.149 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Arm predicted mass right (23122) EFO_0004302 6.84e-19 6.84 -19 -0.36 -0.462 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 115.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Arm predicted mass right (23122) EFO_0004302 2.8e-12 2.8 -12 0.343 0.268 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 213.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ABCB4 Non cancer illness code self reported - cholelithiasis gall stones EFO_0004210 1.67e-11 1.67 -11 2.61 3.45 EUR HANCESTRO_0005 UK Biobank 450k GCST90077704 331754 7669 70.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Arm predicted mass right (23122) EFO_0004302 2.54e-18 2.54 -18 -0.159 -0.204 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 568.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GATA5 Forced expiratory volume in 1 second FEV1 (3063) EFO_0004314 4.41e-14 4.41 -14 -0.048 -0.065 EUR HANCESTRO_0005 UK Biobank 450k GCST90079017 395451 395451 6560.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R Arm predicted mass right (23122) EFO_0004302 1.13e-12 1.13 -12 -0.075 -0.103 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 1485.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IRS1 Arm predicted mass right (23122) EFO_0004302 1.2199999999999999e-23 1.22 -23 -0.382 -0.475 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 140.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 D13.1: Benign neoplasm of stomach MONDO_0021449 4.6200000000000004e-27 4.62 -27 91.43 207.911 EUR HANCESTRO_0005 UK Biobank 450k GCST90079663 387930 1028 17.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ABCA1 Cholesterol (30690) EFO_0004574 5.749999999999999e-40 5.75 -40 -0.306 -0.36 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 1139.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GIGYF1 Cholesterol (30690) EFO_0004574 1.55e-19 1.55 -19 -0.522 -0.667 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 154.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOB Cholesterol (30690) EFO_0004574 2.2300000000000002e-307 2.23 -307 -1.368 -1.436 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 700.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ABCA1 Cholesterol (30690) EFO_0004574 2.99e-49 2.99 -49 -0.141 -0.163 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 6965.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 Cholesterol (30690) EFO_0004574 5.33e-31 5.33 -31 -0.788 -0.949 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 126.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON STAB1 Cholesterol (30690) EFO_0004574 2.99e-12 2.99 -12 0.139 0.109 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 3488.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GFI1B Platelet count (30080) EFO_0004309 2.3800000000000001e-26 2.38 -26 -0.693 -0.85 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 143.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 2.2300000000000002e-307 2.23 -307 -1.283 -1.314 EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 3248.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GP1BB Platelet count (30080) EFO_0004309 2.85e-44 2.85 -44 -1.447 -1.683 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 52.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANO5 Alanine aminotransferase (30620) EFO_0004735 2.71e-20 2.71 -20 0.18 0.148 EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 3141.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BAK1 Platelet count (30080) EFO_0004309 1.01e-12 1.01 -12 0.618 0.485 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 165.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON IQGAP2 Platelet count (30080) EFO_0004309 5.6300000000000005e-21 5.63 -21 -0.244 -0.308 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 708.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ITGA2B Platelet count (30080) EFO_0004309 1.3e-20 1.3 -20 -0.37 -0.469 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 300.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ITGA2B Platelet count (30080) EFO_0004309 6.06e-18 6.06 -18 -0.297 -0.384 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 385.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IQGAP2 Platelet count (30080) EFO_0004309 1.9e-34 1.9 -34 -0.237 -0.283 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1431.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON THPO Platelet count (30080) EFO_0004309 6.09e-26 6.09 -26 -0.971 -1.193 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 60.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SH2B3 Platelet count (30080) EFO_0004309 5.25e-229 5.25 -229 0.495 0.467 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 3695.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 3.12e-28 3.12 -28 -1.315 -1.599 EAS HANCESTRO_0009 UK Biobank 450k 2108 2108 45.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CALR Platelet count (30080) EFO_0004309 4.02e-14 4.02 -14 0.327 0.26 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 647.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CHEK2 Platelet count (30080) EFO_0004309 1.22e-22 1.22 -22 0.129 0.107 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 6989.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 2.36e-12 2.36 -12 -0.902 -1.252 SAS HANCESTRO_0006 UK Biobank 450k 9830 9830 28.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GP1BA Platelet count (30080) EFO_0004309 2.17e-28 2.17 -28 -0.84 -1.021 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 89.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LY75 Platelet count (30080) EFO_0004309 1.46e-16 1.46 -16 0.157 0.127 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 3335.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IQGAP2 Platelet count (30080) EFO_0004309 4.22e-62 4.22 -62 -0.131 -0.149 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 9657.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANO5 Alanine aminotransferase (30620) EFO_0004735 1.41e-18 1.41 -18 0.142 0.116 EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 4643.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON JAK2 Platelet count (30080) EFO_0004309 1.45e-29 1.45 -29 0.96 0.818 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 146.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 1.07e-21 1.07 -21 -1.335 -1.679 EAS HANCESTRO_0009 UK Biobank 450k 2108 2108 31.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ITGA2B Platelet count (30080) EFO_0004309 3.51e-18 3.51 -18 -0.296 -0.382 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 393.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ITGA2B Platelet count (30080) EFO_0004309 3.51e-18 3.51 -18 -0.296 -0.382 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 393.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PER3 Chronotype - Definitely a morning person (1180) EFO_0008328 7.93e-16 7.93 -16 1.274 1.351 EUR HANCESTRO_0005 UK Biobank 450k GCST90077573 388330 107453 1750.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 ICD10 Z99: Dependence on enabling machines and devices, not elsewhere classified EFO_0002571 2.43e-28 2.43 -28 31.068 57.178 EUR HANCESTRO_0005 UK Biobank 450k GCST90081445 385473 3699 26.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON TET2 ICD10 D70: Neutropenia MONDO_0001475 6.8e-19 6.8 -19 3.517 4.643 EUR HANCESTRO_0005 UK Biobank 450k GCST90079716 387075 4407 75.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MYO6 Hearing difficulty problems - Yes (2247) EFO_0007616 4.26e-17 4.26 -17 1.479 1.62 EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 789.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON KLHDC7B Hearing difficulty problems background noise - Yes (2257) EFO_0007616 2.97e-18 2.97 -18 1.658 1.857 EUR HANCESTRO_0005 UK Biobank 450k GCST90078878 422872 167296 644.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MYO6 Hearing difficulty problems - Yes (2247) EFO_0007616 3.86e-15 3.86 -15 1.394 1.514 EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 936.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TECTA Hearing difficulty problems - Yes (2247) EFO_0007616 4.36e-15 4.36 -15 1.841 2.144 EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 309.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 K91: Intraoperative and postprocedural complications and disorders of digestive system, not elsewhere classified EFO_0000405 1.1e-15 1.1 -15 31.771 74.012 EUR HANCESTRO_0005 UK Biobank 450k GCST90080318 387834 2050 13.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SIX1 Hearing difficulty problems - Yes (2247) EFO_0007616 1.66e-11 1.66 -11 3.669 5.356 EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 67.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON APC ICD10 K91: Intraoperative and postprocedural complications and disorders of digestive system, not elsewhere classified EFO_0000405 1.1e-15 1.1 -15 31.771 74.012 EUR HANCESTRO_0005 UK Biobank 450k GCST90080318 387834 2050 13.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR CAD Loose CC (RGC) EFO_0001645 5.01e-12 5.01 -12 3.226 4.498 EUR HANCESTRO_0005 UK Biobank 450k GCST90081465 387011 33971 61.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Hand grip strength left (46) EFO_0006941 6.26e-15 6.26 -15 -0.076 -0.101 EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 2693.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MLH1 ICD10 C18.9: Malignant neoplasm of colon, unspecified EFO_0004288 3.6e-12 3.6 -12 55.661 172.852 EUR HANCESTRO_0005 UK Biobank 450k GCST90079580 387789 1360 8.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR CAD Loose CC (RGC) EFO_0001645 9.35e-26 9.35 -26 2.222 2.579 EUR HANCESTRO_0005 UK Biobank 450k GCST90081465 387011 33971 273.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GIGYF1 Hand grip strength left (46) EFO_0006941 3.14e-13 3.14 -13 -0.284 -0.388 EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 158.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TNRC6B Hand grip strength left (46) EFO_0006941 3.54e-12 3.54 -12 -0.336 -0.467 EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 99.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TNFRSF13B Total protein (30860) EFO_0004536 1.19e-11 1.19 -11 -0.197 -0.277 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 534.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON FCGRT Total protein (30860) EFO_0004536 1.6e-32 1.6 -32 -1.091 -1.307 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 74.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IQGAP2 Total protein (30860) EFO_0004536 3.37e-12 3.37 -12 -0.132 -0.183 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 1290.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON FCGRT Total protein (30860) EFO_0004536 1.1500000000000002e-27 1.15 -27 -1.373 -1.674 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 38.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN ICD10 I42: Cardiomyopathy EFO_0000318 4.42e-52 4.42 -52 6.375 8.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 117.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MYBPC3 ICD10 I42: Cardiomyopathy EFO_0000318 4.31e-18 4.31 -18 41.169 95.4 EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 14.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MYBPC3 ICD10 I42: Cardiomyopathy EFO_0000318 4.51e-25 4.51 -25 31.625 60.852 EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 22.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CHD2 ICD10 C91: Lymphoid leukemia EFO_0004289 1.08e-11 1.08 -11 10.317 20.224 EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 16.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SF3B1 ICD10 C91: Lymphoid leukemia EFO_0004289 2.22e-18 2.22 -18 17.97 34.333 EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 20.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MYBPC3 ICD10 I42: Cardiomyopathy EFO_0000318 3.56e-13 3.56 -13 78.655 255.106 EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 8.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON CHD2 ICD10 C91: Lymphoid leukemia EFO_0004289 1.08e-11 1.08 -11 10.317 20.224 EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 16.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON NFKBIE ICD10 C91: Lymphoid leukemia EFO_0004289 1.13e-12 1.13 -12 25.422 61.994 EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 11.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TP53 ICD10 C91: Lymphoid leukemia EFO_0004289 2.99e-14 2.99 -14 13.885 27.368 EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 17.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN ICD10 I42: Cardiomyopathy EFO_0000318 1.61e-48 1.61 -48 5.313 6.645 EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 128.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SF3B1 ICD10 C91: Lymphoid leukemia EFO_0004289 2.22e-18 2.22 -18 17.97 34.333 EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 20.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PROS1 VTE PE CC (RGC) EFO_0004286 1.08e-14 1.08 -14 11.017 20.244 EUR HANCESTRO_0005 UK Biobank 450k GCST90081536 376456 5226 21.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PROS1 VTE PE CC (RGC) EFO_0003827 1.08e-14 1.08 -14 11.017 20.244 EUR HANCESTRO_0005 UK Biobank 450k GCST90081536 376456 5226 21.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PKD1 ICD10 Z45.8: Encounter for adjustment and management of other implanted devices EFO_0004542 6.29e-12 6.29 -12 26.786 68.409 EUR HANCESTRO_0005 UK Biobank 450k GCST90081263 387930 1272 10.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON MSH2 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 4.63e-13 4.63 -13 6.389 10.558 EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 27.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MLH1 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 1.18e-21 1.18 -21 20.084 37.151 EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 24.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON MLH1 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 2.06e-23 2.06 -23 101.411 251.45 EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 16.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON MLH1 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 1.6100000000000002e-31 1.61 -31 61.841 123.555 EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 25.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MLH1 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 1.41e-18 1.41 -18 13.137 23.319 EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 25.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH6 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 5.39e-13 5.39 -13 6.933 11.732 EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 25.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TYR Skin colour - Very fair (1717) EFO_0003784 3.14e-13 3.14 -13 2.684 3.5 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 85.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 3mm weak meridian left (5096) EFO_0004731 1.29e-18 1.29 -18 0.923 0.755 EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 109.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON OCA2 Skin colour - Very fair (1717) EFO_0003784 2.08e-261 2.08 -261 2.739 2.9 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 1935.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 3mm weak meridian left (5096) EFO_0004731 2.4900000000000004e-21 2.49 -21 0.667 0.553 EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 236.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TYR Skin colour - Very fair (1717) EFO_0003784 1.58e-16 1.58 -16 1.979 2.328 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 212.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PRSS56 3mm weak meridian left (5096) EFO_0004731 7.74e-12 7.74 -12 0.578 0.449 EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 187.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 C79.5: Secondary malignant neoplasm of bone and bone marrow EFO_0009812 1e-19 10.0 -20 5.015 7.101 EUR HANCESTRO_0005 UK Biobank 450k GCST90079627 387930 3104 52.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 C79.5: Secondary malignant neoplasm of bone and bone marrow EFO_0009812 4.64e-20 4.64 -20 5.444 7.819 EUR HANCESTRO_0005 UK Biobank 450k GCST90079627 387930 3104 49.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APC ICD10 D12.6: Benign neoplasm of colon, unspecified EFO_0002422 5.68e-15 5.68 -15 10.098 18.039 EUR HANCESTRO_0005 UK Biobank 450k GCST90079659 387930 2672 22.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ANKRD12 Usual walking pace - Slow pace (924) EFO_0008002 1.43e-11 1.43 -11 3.013 4.149 EUR HANCESTRO_0005 UK Biobank 450k GCST90079509 428255 34629 60.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC45A2 Hair colour natural before greying - Blonde (1747) EFO_0007822 5.26e-63 5.26 -63 4.601 5.501 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 254.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TYRP1 Hair colour natural before greying - Blonde (1747) EFO_0007822 6.16e-17 6.16 -17 3.086 4.018 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 103.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GFI1B Mean platelet thrombocyte volume (30100) EFO_0004584 1.3199999999999999e-45 1.32 -45 1.317 1.157 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 143.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC45A2 Hair colour natural before greying - Blonde (1747) EFO_0007822 3.93e-158 3.93 -158 3.568 3.916 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 866.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON OR6F1 Mean platelet thrombocyte volume (30100) EFO_0004584 3.52e-16 3.52 -16 -0.086 -0.113 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 3809.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TYR Hair colour natural before greying - Blonde (1747) EFO_0007822 1.17e-28 1.17 -28 1.504 1.616 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 1082.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GP1BA Mean platelet thrombocyte volume (30100) EFO_0004584 3.48e-112 3.48 -112 0.689 0.634 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 900.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Weight (21002) EFO_0004338 4.31e-31 4.31 -31 0.357 0.306 EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 953.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 Mean platelet thrombocyte volume (30100) EFO_0004584 1.08e-15 1.08 -15 0.199 0.16 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1794.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CALR Mean platelet thrombocyte volume (30100) EFO_0004584 1.21e-14 1.21 -14 -0.576 -0.772 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 71.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON OCA2 Hair colour natural before greying - Blonde (1747) EFO_0007822 2.3799999999999998e-45 2.38 -45 7.065 9.266 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 123.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON EXOC3L4 Mean platelet thrombocyte volume (30100) EFO_0004584 9.69e-19 9.69 -19 -0.312 -0.401 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 345.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ARHGAP10 Mean platelet thrombocyte volume (30100) EFO_0004584 3.5e-27 3.5 -27 0.2 0.169 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 2893.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GFI1B Mean platelet thrombocyte volume (30100) EFO_0004584 1.08e-151 1.08 -151 0.741 0.689 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1027.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GP1BB Mean platelet thrombocyte volume (30100) EFO_0004584 1.67e-58 1.67 -58 2.104 1.876 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 52.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON EXOC3L4 Mean platelet thrombocyte volume (30100) EFO_0004584 7.549999999999999e-42 7.55 -42 -0.171 -0.2 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 3983.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Mean platelet thrombocyte volume (30100) EFO_0004584 3.62e-16 3.62 -16 0.202 0.163 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1779.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TUBB1 Mean platelet thrombocyte volume (30100) EFO_0004584 4.99e-92 4.99 -92 0.214 0.195 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 7842.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TYRP1 Hair colour natural before greying - Blonde (1747) EFO_0007822 6.04e-63 6.04 -63 3.196 3.661 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 388.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PEAR1 Mean platelet thrombocyte volume (30100) EFO_0004584 8e-14 8.0 -14 -0.113 -0.153 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1748.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GFI1B Mean platelet thrombocyte volume (30100) EFO_0004584 1.01e-37 1.01 -37 1.091 0.947 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 177.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PTPRJ Mean platelet thrombocyte volume (30100) EFO_0004584 7.23e-25 7.23 -25 -0.395 -0.488 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 317.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TUBB1 Mean platelet thrombocyte volume (30100) EFO_0004584 1.8199999999999997e-95 1.82 -95 0.976 0.892 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 382.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANO5 Aspartate aminotransferase (30650) EFO_0004736 4.73e-36 4.73 -36 0.236 0.204 EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 3130.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON EGFL8 ICD10 L40: Psoriasis EFO_0000676 5.43e-19 5.43 -19 2.354 2.843 EUR HANCESTRO_0005 UK Biobank 450k GCST90080349 383252 5629 144.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SCUBE3 Whole body water mass (23102) EFO_0009805 1.27e-15 1.27 -15 -0.098 -0.13 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 1216.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Whole body water mass (23102) EFO_0009805 2.46e-14 2.46 -14 -0.379 -0.511 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 71.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC4R Whole body water mass (23102) EFO_0009805 3.06e-14 3.06 -14 0.384 0.306 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 197.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 Urea (30670) EFO_0009795 9.139999999999999e-30 9.14 -30 1.042 0.888 EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 138.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON PKD1 Urea (30670) EFO_0009795 3.53e-29 3.53 -29 0.688 0.586 EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 311.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CUBN Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 9.79e-22 9.79 -22 0.344 0.286 EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 1034.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK TAG ProbableT2D (RGC) MONDO_0005148 2.32e-21 2.32 -21 23.874 45.974 EUR HANCESTRO_0005 UK Biobank 450k GCST90081526 426342 17719 25.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PDZK1 Urate (30880) EFO_0004531 7.14e-21 7.14 -21 -0.405 -0.512 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 206.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HNF1A ICD10 E11.9: Type 2 diabetes mellitus without complications MONDO_0005148 1.04e-11 1.04 -11 5.844 9.72 EUR HANCESTRO_0005 UK Biobank 450k GCST90079741 385838 26590 29.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LRP2 Urate (30880) EFO_0004531 1.11e-20 1.11 -20 0.091 0.075 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 9768.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC2A9 Urate (30880) EFO_0004531 4.3500000000000003e-26 4.35 -26 -0.634 -0.778 SAS HANCESTRO_0006 UK Biobank 450k 9833 9833 135.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC22A12 Urate (30880) EFO_0004531 3.9199999999999997e-54 3.92 -54 -1.186 -1.358 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 80.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC2A9 Urate (30880) EFO_0004531 1.7999999999999998e-138 1.8 -138 -0.63 -0.683 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 887.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LRP2 Urate (30880) EFO_0004531 2.44e-14 2.44 -14 0.063 0.05 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 14541.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON COL4A4 Urate (30880) EFO_0004531 1.02e-14 1.02 -14 0.291 0.232 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 683.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GCK TAG ProbableT2D (RGC) MONDO_0005148 1.74e-13 1.74 -13 11.192 21.279 EUR HANCESTRO_0005 UK Biobank 450k GCST90081526 426342 17719 21.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON COL4A4 Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 2.3e-20 2.3 -20 1.029 0.849 EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 109.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC5A2 Urate (30880) EFO_0004531 8.19e-15 8.19 -15 -0.111 -0.149 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 1667.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 Ankle spacing width right (4119) EFO_0004324 1.59e-11 1.59 -11 0.376 0.291 EUR HANCESTRO_0005 UK Biobank 450k GCST90079154 166358 166358 359.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SMAD6 Ankle spacing width right (4119) EFO_0004324 1.05e-11 1.05 -11 0.298 0.231 EUR HANCESTRO_0005 UK Biobank 450k GCST90079154 166358 166358 578.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SERPINC1 ICD10 D68: Other coagulation defects EFO_0009314 1.63e-11 1.63 -11 266.332 1352.57 EUR HANCESTRO_0005 UK Biobank 450k GCST90079713 387478 1286 5.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON MC4R Leg predicted mass left (23118) EFO_0004302 3.07e-31 3.07 -31 0.259 0.222 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PAPPA2 Leg predicted mass left (23118) EFO_0004302 1.72e-11 1.72 -11 -0.062 -0.088 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 2008.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PIEZO1 Sitting height (20015) EFO_0011011 2.14e-12 2.14 -12 -0.149 -0.206 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 508.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON CNPY2 Sitting height (20015) EFO_0011011 2.44e-13 2.44 -13 -0.177 -0.242 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 405.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Sitting height (20015) EFO_0011011 5.179999999999999e-34 5.18 -34 0.393 0.338 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 568.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON IGF1R Leg predicted mass left (23118) EFO_0004302 8.35e-13 8.35 -13 -0.079 -0.109 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 1485.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Leg predicted mass left (23118) EFO_0004302 1.01e-16 1.01 -16 0.427 0.345 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 197.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON THBS3 Sitting height (20015) EFO_0011011 4.86e-12 4.86 -12 -0.069 -0.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 2274.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PIEZO1 Sitting height (20015) EFO_0011011 1.78e-21 1.78 -21 -0.073 -0.092 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 4765.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Sitting height (20015) EFO_0011011 2.51e-16 2.51 -16 0.415 0.335 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 263.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 Sitting height (20015) EFO_0011011 1.66e-11 1.66 -11 0.287 0.222 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 403.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SCUBE3 Sitting height (20015) EFO_0011011 3.0499999999999998e-24 3.05 -24 -0.155 -0.193 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1235.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Sitting height (20015) EFO_0011011 6.550000000000001e-21 6.55 -21 -0.074 -0.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 4492.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SCUBE3 Sitting height (20015) EFO_0011011 2.04e-12 2.04 -12 -0.307 -0.426 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 121.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGF1R Leg predicted mass left (23118) EFO_0004302 6.18e-14 6.18 -14 -0.384 -0.52 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 71.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Leg predicted mass left (23118) EFO_0004302 5.02e-15 5.02 -15 -0.052 -0.069 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 4403.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADAMTS17 Sitting height (20015) EFO_0011011 1.33e-16 1.33 -16 -0.065 -0.086 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 4115.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 4.6200000000000004e-29 4.62 -29 6.836 9.573 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 65.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 7.840000000000001e-29 7.84 -29 4.201 5.408 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 101.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CHEK2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 5.17e-17 5.17 -17 1.872 2.168 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 248.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 3.35e-31 3.35 -31 4.781 6.226 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 96.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PALB2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 2.08e-26 2.08 -26 5.348 7.284 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 72.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CLSPN Mean corpuscular volume (30040) EFO_0004526 7.14e-17 7.14 -17 0.528 0.427 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 295.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean corpuscular volume (30040) EFO_0004526 8.8e-232 8.8 -232 -2.72 -2.894 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 98.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON RPS6KB2 Mean corpuscular volume (30040) EFO_0004526 1.18e-15 1.18 -15 -0.07 -0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 5805.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ALAS2 Mean corpuscular volume (30040) EFO_0004526 5.95e-13 5.95 -13 -0.229 -0.315 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 225.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Arm fat free mass left (23125) EFO_0004995 6.49e-22 6.49 -22 -0.086 -0.108 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 2642.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON IGF1R Arm fat free mass left (23125) EFO_0004995 5.78e-17 5.78 -17 -0.155 -0.202 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 568.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TFR2 Mean corpuscular volume (30040) EFO_0004526 5.92e-20 5.92 -20 0.306 0.252 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1024.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Arm fat free mass left (23125) EFO_0004995 5.93e-35 5.93 -35 0.15 0.13 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 3011.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CAD Mean corpuscular volume (30040) EFO_0004526 3.05e-30 3.05 -30 0.916 0.782 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 166.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON CAD Mean corpuscular volume (30040) EFO_0004526 1.42e-26 1.42 -26 0.769 0.649 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 210.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular volume (30040) EFO_0004526 8.8e-232 8.8 -232 -2.72 -2.894 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 98.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Arm fat free mass left (23125) EFO_0004995 2e-12 2.0 -12 0.413 0.323 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 157.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON NPC1 Mean corpuscular volume (30040) EFO_0004526 1.88e-12 1.88 -12 -0.091 -0.125 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 2745.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular volume (30040) EFO_0004526 6.05e-108 6.05 -108 -2.018 -2.215 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TNFRSF13B Mean corpuscular volume (30040) EFO_0004526 6.78e-15 6.78 -15 -0.061 -0.081 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 7149.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular volume (30040) EFO_0004526 6.05e-108 6.05 -108 -2.018 -2.215 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON KLF1 Mean corpuscular volume (30040) EFO_0004526 7.32e-19 7.32 -19 -1.004 -1.289 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 37.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GMPR Mean corpuscular volume (30040) EFO_0004526 4.29e-52 4.29 -52 0.383 0.339 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1619.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TFRC Mean corpuscular volume (30040) EFO_0004526 5.11e-50 5.11 -50 -1.223 -1.408 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 87.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON KLF1 Mean corpuscular volume (30040) EFO_0004526 1.16e-22 1.16 -22 -0.494 -0.617 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 197.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean corpuscular volume (30040) EFO_0004526 1.69e-37 1.69 -37 -2.189 -2.585 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 19.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACAN Arm fat free mass left (23125) EFO_0004995 7.37e-20 7.37 -20 -0.518 -0.66 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 63.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON CHTF18 Mean corpuscular volume (30040) EFO_0004526 4.33e-17 4.33 -17 0.295 0.24 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 959.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Arm fat free mass left (23125) EFO_0004995 3.86e-61 3.86 -61 0.13 0.116 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 6709.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CAD Mean corpuscular volume (30040) EFO_0004526 6.1e-15 6.1 -15 0.137 0.11 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 3959.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SF3B1 Mean corpuscular volume (30040) EFO_0004526 1.39e-20 1.39 -20 0.501 0.413 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 394.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HSPA9 Mean corpuscular volume (30040) EFO_0004526 1.11e-20 1.11 -20 -0.425 -0.539 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 232.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Arm fat free mass left (23125) EFO_0004995 1.23e-22 1.23 -22 -0.068 -0.086 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 4403.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBA2 Mean corpuscular volume (30040) EFO_0004526 5.37e-17 5.37 -17 -0.219 -0.286 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1039.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CAD Mean corpuscular volume (30040) EFO_0004526 3.14e-13 3.14 -13 0.948 0.747 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 74.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON HBB Mean corpuscular volume (30040) EFO_0004526 8.8e-232 8.8 -232 -2.72 -2.894 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 98.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TFRC Mean corpuscular volume (30040) EFO_0004526 1.35e-39 1.35 -39 -1.136 -1.334 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 76.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TMPRSS6 Mean corpuscular volume (30040) EFO_0004526 4.31e-47 4.31 -47 -0.294 -0.34 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1412.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TERT Mean corpuscular volume (30040) EFO_0004526 3.94e-21 3.94 -21 0.634 0.525 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 250.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RNF20 Mean corpuscular volume (30040) EFO_0004526 8.3e-13 8.3 -13 -0.299 -0.411 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 235.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TFRC Mean corpuscular volume (30040) EFO_0004526 5.84e-14 5.84 -14 -0.538 -0.728 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 83.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON TTN ICD10 I50.0: Congestive heart failure (I50.0) EFO_0000373 8.83e-17 8.83 -17 2.553 3.183 EUR HANCESTRO_0005 UK Biobank 450k GCST90080020 387930 3182 110.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 I50.0: Congestive heart failure (I50.0) EFO_0000373 9.48e-17 9.48 -17 5.693 8.579 EUR HANCESTRO_0005 UK Biobank 450k GCST90080020 387930 3182 39.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON MYOC Non cancer illness code self reported - glaucoma/ICD10 H40 EFO_0000516 4.51e-17 4.51 -17 4.037 5.591 EUR HANCESTRO_0005 UK Biobank 450k GCST90077755 329052 4377 57.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 D12.8: Benign neoplasm of rectum EFO_0002422 1.01e-12 1.01 -12 16.669 36.126 EUR HANCESTRO_0005 UK Biobank 450k GCST90079661 387930 4111 14.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APC ICD10 D12.8: Benign neoplasm of rectum EFO_0002422 1.01e-12 1.01 -12 16.669 36.126 EUR HANCESTRO_0005 UK Biobank 450k GCST90079661 387930 4111 14.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TBX5 Pulse rate (4194) EFO_0004326 4.4e-16 4.4 -16 0.22 0.177 EUR HANCESTRO_0005 UK Biobank 450k GCST90079160 173103 173103 1989.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Pulse rate (4194) EFO_0004326 6.910000000000001e-21 6.91 -21 0.266 0.22 EUR HANCESTRO_0005 UK Biobank 450k GCST90079160 173103 173103 1734.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR LipidLowering Med (RGC) EFO_0007010 2.67e-58 2.67 -58 6.852 8.661 EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 211.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TNFRSF13B Interpolated Age of participant when operation took place (20011) EFO_0002571 2.36e-19 2.36 -19 -0.085 -0.109 EUR HANCESTRO_0005 UK Biobank 450k GCST90078244 346023 346023 6087.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APOB Apolipoprotein B (30640) EFO_0004615 1.9e-141 1.9 -141 -1.438 -1.559 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 223.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON POLE Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.24e-12 2.24 -12 0.135 0.105 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3802.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PCSK9 Apolipoprotein B (30640) EFO_0004615 5.16e-162 5.16 -162 -0.919 -0.99 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 635.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TFRC Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.0199999999999995e-25 6.02 -25 1.215 1.021 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 87.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TMPRSS6 Red blood cell erythrocyte distribution width (30070) EFO_0009188 8.03e-41 8.03 -41 0.746 0.651 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 361.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PDE3B Apolipoprotein B (30640) EFO_0004615 2.02e-14 2.02 -14 -0.117 -0.157 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 1993.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.75e-114 1.75 -114 2.307 2.124 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 98.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON KLF1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.19e-21 1.19 -21 1.229 1.02 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 75.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SF3B1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.23e-19 6.23 -19 0.505 0.413 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 394.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SCARB1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.89e-14 6.89 -14 0.182 0.144 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 2314.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FLT3 Monocyte count (30130) EFO_0005091 1.55e-19 1.55 -19 0.287 0.236 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 1180.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ALB Apolipoprotein B (30640) EFO_0004615 4.1e-25 4.1 -25 0.929 0.781 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 146.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CD36 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.47e-29 1.47 -29 0.206 0.175 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3612.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ORMDL3 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.33e-12 1.33 -12 0.385 0.302 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 471.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CCR2 Monocyte count (30130) EFO_0005091 5.34e-15 5.34 -15 -0.16 -0.213 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 1084.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZNF229 Apolipoprotein B (30640) EFO_0004615 3.3899999999999998e-53 3.39 -53 -0.178 -0.203 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 5150.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 Apolipoprotein B (30640) EFO_0004615 5.3400000000000005e-185 5.34 -185 -0.728 -0.78 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 1171.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.0399999999999998e-23 1.04 -23 0.228 0.191 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 2364.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOC3 Apolipoprotein B (30640) EFO_0004615 8.029999999999999e-23 8.03 -23 -0.155 -0.194 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 2159.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SUPT5H Red blood cell erythrocyte distribution width (30070) EFO_0009188 7.18e-15 7.18 -15 1.671 1.335 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 29.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ASXL1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.37e-34 2.37 -34 0.572 0.493 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 523.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON RRBP1 Apolipoprotein B (30640) EFO_0004615 5.67e-12 5.67 -12 -0.189 -0.263 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 570.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.11e-11 1.11 -11 2.39 1.855 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB Apolipoprotein B (30640) EFO_0004615 2.02e-64 2.02 -64 -1.591 -1.799 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 75.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON BRCA2 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 7.760000000000001e-35 7.76 -35 8.631 12.163 EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 62.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Haemoglobin concentration (30020) EFO_0004509 1.27e-133 1.27 -133 -1.712 -1.86 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 98.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Haemoglobin concentration (30020) EFO_0004509 7.89e-12 7.89 -12 -0.945 -1.325 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APEH Haemoglobin concentration (30020) EFO_0004509 7.11e-17 7.11 -17 -0.174 -0.227 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 754.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TMPRSS6 Haemoglobin concentration (30020) EFO_0004509 5.4e-23 5.4 -23 -0.312 -0.389 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 361.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON AMPD3 Haemoglobin concentration (30020) EFO_0004509 1.38e-16 1.38 -16 -0.043 -0.057 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 11976.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON S1PR4 Eosinophil count (30150) EFO_0004842 1.65e-11 1.65 -11 -0.175 -0.247 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 636.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON APEH Haemoglobin concentration (30020) EFO_0004509 6.19e-15 6.19 -15 -0.14 -0.187 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 975.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SRSF2 Eosinophil count (30150) EFO_0004842 6.59e-13 6.59 -13 -0.357 -0.491 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 182.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PIEZO1 Haemoglobin concentration (30020) EFO_0004509 8.22e-13 8.22 -13 -0.131 -0.181 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 879.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 Haemoglobin concentration (30020) EFO_0004509 9.44e-12 9.44 -12 -0.122 -0.171 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 889.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON EGLN2 Haemoglobin concentration (30020) EFO_0004509 7.89e-18 7.89 -18 0.241 0.196 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1072.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EGLN1 Haemoglobin concentration (30020) EFO_0004509 2.52e-15 2.52 -15 0.802 0.643 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 85.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TMPRSS6 Haemoglobin concentration (30020) EFO_0004509 3.55e-14 3.55 -14 -0.353 -0.476 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 142.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TMPRSS6 Haemoglobin concentration (30020) EFO_0004509 7.43e-14 7.43 -14 -0.207 -0.28 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 400.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON HBB Haemoglobin concentration (30020) EFO_0004509 1.92e-13 1.92 -13 -1.022 -1.394 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 21.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 Haemoglobin concentration (30020) EFO_0004509 2.09e-13 2.09 -13 -0.104 -0.141 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1517.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PFKM Haemoglobin concentration (30020) EFO_0004509 1.44e-16 1.44 -16 0.18 0.146 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1808.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Haemoglobin concentration (30020) EFO_0004509 5.62e-65 5.62 -65 -1.298 -1.467 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON RUNX1 Platelet crit (30090) EFO_0007985 2.92e-13 2.92 -13 -0.912 -1.247 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 26.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CHEK2 Platelet crit (30090) EFO_0007985 1.43e-17 1.43 -17 0.214 0.174 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 1835.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NBEAL2 Platelet crit (30090) EFO_0007985 5.99e-13 5.99 -13 -0.145 -0.199 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 1004.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON RTEL1 Platelet crit (30090) EFO_0007985 1.67e-12 1.67 -12 -0.115 -0.159 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 1518.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MPL Platelet crit (30090) EFO_0007985 7.690000000000001e-27 7.69 -27 0.485 0.41 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 527.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CALR Platelet crit (30090) EFO_0007985 4.72e-75 4.72 -75 2.105 1.902 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 71.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TUBB1 Platelet crit (30090) EFO_0007985 1.3399999999999999e-45 1.34 -45 -0.545 -0.633 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 382.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MPL Platelet crit (30090) EFO_0007985 2.89e-25 2.89 -25 0.472 0.397 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 527.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON JAK2 Platelet crit (30090) EFO_0007985 3.54e-12 3.54 -12 1.066 0.832 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 54.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON SRSF2 Platelet crit (30090) EFO_0007985 3.69e-13 3.69 -13 -0.344 -0.471 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 182.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 ICD10 I12.0: Hypertensive chronic kidney disease with stage 5 chronic kidney disease or end stage renal disease MONDO_0024633 2.72e-24 2.72 -24 26.26 49.3 EUR HANCESTRO_0005 UK Biobank 450k GCST90079963 387930 1504 23.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 ICD10 I12.0: Hypertensive chronic kidney disease with stage 5 chronic kidney disease or end stage renal disease MONDO_0024633 2.72e-24 2.72 -24 26.26 49.3 EUR HANCESTRO_0005 UK Biobank 450k GCST90079963 387930 1504 23.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON WNT1 Speed of sound through heel left (4103) EFO_0005654 9.76e-13 9.76 -13 -0.361 -0.498 EUR HANCESTRO_0005 UK Biobank 450k GCST90079150 166283 166283 164.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR ICD10 I25: Chronic ischemic heart disease EFO_0003777 1.47e-23 1.47 -23 2.338 2.761 EUR HANCESTRO_0005 UK Biobank 450k GCST90079982 387110 32706 221.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HNF1A Non cancer illness code self reported - diabetes EFO_0000400 5.58e-13 5.58 -13 7.814 13.664 EUR HANCESTRO_0005 UK Biobank 450k GCST90077722 331754 17927 25.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PROS1 VTE Composite CC (RGC) EFO_0003907 5.94e-14 5.94 -14 11.511 21.78 EUR HANCESTRO_0005 UK Biobank 450k GCST90081534 225913 5702 23.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GCK Non cancer illness code self reported - diabetes EFO_0000400 3.52e-17 3.52 -17 4.922 7.131 EUR HANCESTRO_0005 UK Biobank 450k GCST90077722 331754 17927 51.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GCK ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 3.91e-14 3.91 -14 9.805 17.715 EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 26.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON GCK ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 4.52e-24 4.52 -24 23.55 43.422 EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 32.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACAN Comparative height size at age 10 - Shorter (1697) EFO_0004339 1.05e-16 1.05 -16 9.674 16.533 EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 42.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACAN Comparative height size at age 10 - Shorter (1697) EFO_0004339 4.05e-15 4.05 -15 13.459 25.75 EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 32.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ADAMTS17 Comparative height size at age 10 - Shorter (1697) EFO_0004339 1.37e-17 1.37 -17 2.619 3.266 EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 156.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Comparative height size at age 10 - Shorter (1697) EFO_0004339 4.48e-14 4.48 -14 4.568 6.777 EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 59.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON RHAG Reticulocyte count (30250) EFO_0007986 1.7e-25 1.7 -25 0.316 0.266 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1331.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RHAG Reticulocyte count (30250) EFO_0007986 2.56e-15 2.56 -15 0.544 0.436 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 285.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON RIOK3 Reticulocyte count (30250) EFO_0007986 6.92e-13 6.92 -13 0.111 0.087 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 5836.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EPB41 Reticulocyte count (30250) EFO_0007986 1.5e-18 1.5 -18 0.928 0.759 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 117.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SRSF2 Reticulocyte count (30250) EFO_0007986 1.95e-31 1.95 -31 0.958 0.82 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 175.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TRIM10 Reticulocyte count (30250) EFO_0007986 3.64e-12 3.64 -12 -0.147 -0.205 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 994.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Reticulocyte count (30250) EFO_0007986 7.53e-13 7.53 -13 0.872 0.685 SAS HANCESTRO_0006 UK Biobank 450k 9692 9692 99.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANK1 Reticulocyte count (30250) EFO_0007986 3.24e-15 3.24 -15 0.098 0.079 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 8817.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Reticulocyte count (30250) EFO_0007986 5.870000000000001e-26 5.87 -26 1.186 1.0 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 96.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SPHK1 Reticulocyte count (30250) EFO_0007986 4.36e-25 4.36 -25 -0.101 -0.125 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 5990.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MFSD2B Reticulocyte count (30250) EFO_0007986 4.24e-18 4.24 -18 -0.087 -0.113 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 5757.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Reticulocyte count (30250) EFO_0007986 1.91e-18 1.91 -18 0.237 0.194 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1767.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GMPR Reticulocyte count (30250) EFO_0007986 3.1199999999999997e-60 3.12 -60 0.281 0.251 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 3714.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BTN2A2 Reticulocyte count (30250) EFO_0007986 5.13e-12 5.13 -12 -0.051 -0.071 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 8177.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Body mass index BMI (21001) EFO_0004340 3.51e-16 3.51 -16 0.659 0.532 EUR HANCESTRO_0005 UK Biobank 450k GCST90078684 429633 429633 202.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PALB2 ICD10 C77.3: Secondary and unspecified malignant neoplasm of axilla and upper limb lymph nodes MONDO_0024339 1.15e-12 1.15 -12 6.013 9.859 EUR HANCESTRO_0005 UK Biobank 450k GCST90079618 387930 2725 27.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 C77.3: Secondary and unspecified malignant neoplasm of axilla and upper limb lymph nodes MONDO_0024339 1.14e-19 1.14 -19 5.752 8.393 EUR HANCESTRO_0005 UK Biobank 450k GCST90079618 387930 2725 46.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON NOTCH1 Neutrophil percentage (30200) EFO_0007990 2.48e-20 2.48 -20 -1.004 -1.274 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 47.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CXCL2 Neutrophil percentage (30200) EFO_0007990 2.43e-14 2.43 -14 -0.531 -0.715 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 102.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CHEK2 Neutrophil count (30140) EFO_0004833 4.05e-18 4.05 -18 0.19 0.155 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 2752.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CXCL2 Neutrophil count (30140) EFO_0004833 1.13e-18 1.13 -18 -0.639 -0.822 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 102.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON NF1 Neutrophil count (30140) EFO_0004833 2.64e-14 2.64 -14 0.617 0.491 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 214.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON CXCR4 Neutrophil count (30140) EFO_0004833 6.29e-19 6.29 -19 0.55 0.45 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 345.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CHEK2 Neutrophil count (30140) EFO_0004833 3.6999999999999996e-25 3.7 -25 0.146 0.123 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 6980.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MEPE Heel quantitative ultrasound index QUI direct entry left (4104) EFO_0004514 4.6899999999999996e-24 4.69 -24 -0.283 -0.351 EUR HANCESTRO_0005 UK Biobank 450k GCST90079151 166283 166283 651.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MEPE Heel quantitative ultrasound index QUI direct entry left (4104) EFO_0004514 5.79e-22 5.79 -22 -0.248 -0.312 EUR HANCESTRO_0005 UK Biobank 450k GCST90079151 166283 166283 747.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Treatment or Medication Code - digoxin EFO_0007010 2.05e-12 2.05 -12 3.676 5.285 EUR HANCESTRO_0005 UK Biobank 450k GCST90078240 320758 1185 44.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANGPTL7 6mm weak meridian right (5098) EFO_0004731 4.22e-18 4.22 -18 0.236 0.192 EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 1648.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PRSS56 6mm weak meridian right (5098) EFO_0004731 6.11e-12 6.11 -12 0.624 0.485 EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 162.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MEN1 ICD10 E21.0: Primary hyperparathyroidism EFO_0008519 1.1e-14 1.1 -14 434.988 2031.21 EUR HANCESTRO_0005 UK Biobank 450k GCST90079751 387930 643 6.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GIGYF1 T2D (RGC) MONDO_0005148 4.58e-13 4.58 -13 4.769 7.28 EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 42.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PAM T2D (RGC) MONDO_0005148 8e-12 8.0 -12 1.276 1.369 EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 989.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GCK Non cancer illness code self reported - type 2 diabetes MONDO_0005148 6.57e-14 6.57 -14 7.953 13.676 EUR HANCESTRO_0005 UK Biobank 450k GCST90077724 331754 3497 24.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IFT140 ICD10 N28: Other disorders of kidney and ureter, not elsewhere classified EFO_0009690 1.09e-16 1.09 -16 5.464 8.161 EUR HANCESTRO_0005 UK Biobank 450k GCST90080595 387002 3413 40.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 ICD10 N28: Other disorders of kidney and ureter, not elsewhere classified EFO_0009690 1.48e-12 1.48 -12 8.7 15.839 EUR HANCESTRO_0005 UK Biobank 450k GCST90080595 387002 3413 20.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Comparative height size at age 10 - Taller (1697) EFO_0004339 2.51e-16 2.51 -16 2.132 2.555 EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 238.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PDE3B Comparative height size at age 10 - Taller (1697) EFO_0004339 5.57e-15 5.57 -15 1.478 1.631 EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 702.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON FLG Non cancer illness code self reported - eczema dermatitis EFO_0005319 8.47e-18 8.47 -18 1.703 1.923 EUR HANCESTRO_0005 UK Biobank 450k GCST90077853 331754 12790 331.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CHTF18 Mean sphered cell volume (30270) EFO_0004526 2.63e-16 2.63 -16 0.299 0.241 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 949.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 2.01e-16 2.01 -16 -1.891 -2.482 AFR HANCESTRO_0010 UK Biobank 450k 8409 8409 13.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MFSD2B Mean sphered cell volume (30270) EFO_0004526 4.88e-16 4.88 -16 -0.078 -0.103 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 5756.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 2.01e-16 2.01 -16 -1.891 -2.482 AFR HANCESTRO_0010 UK Biobank 450k 8409 8409 13.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON EPB42 Mean sphered cell volume (30270) EFO_0004526 2.3e-13 2.3 -13 -0.166 -0.226 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 863.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EPB41 Mean sphered cell volume (30270) EFO_0004526 2.87e-22 2.87 -22 -0.658 -0.825 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 116.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 3.15e-127 3.15 -127 -2.044 -2.226 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 96.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON OCA2 Hair colour natural before greying - Black (1747) EFO_0007822 1.95e-13 1.95 -13 0.473 0.577 EUR HANCESTRO_0005 UK Biobank 450k GCST90077610 429979 20623 84.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 3.15e-127 3.15 -127 -2.044 -2.226 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 96.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ATR Mean sphered cell volume (30270) EFO_0004526 1.27e-19 1.27 -19 -0.106 -0.136 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 3704.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BORA Mean sphered cell volume (30270) EFO_0004526 2.74e-17 2.74 -17 -0.088 -0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 4492.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 1.2e-19 1.2 -19 -1.521 -1.941 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 18.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON E2F8 Mean sphered cell volume (30270) EFO_0004526 1.34e-11 1.34 -11 0.48 0.372 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 272.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANK1 Mean sphered cell volume (30270) EFO_0004526 3.1e-32 3.1 -32 -1.387 -1.663 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 42.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON POLE Mean sphered cell volume (30270) EFO_0004526 8.66e-15 8.66 -15 0.338 0.27 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 682.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC1R Hair colour natural before greying - Red (1747) EFO_0007822 2.2300000000000002e-307 2.23 -307 8.338 9.316 EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 1557.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC45A2 Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 1.81e-16 1.81 -16 0.522 0.609 EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 204.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC1R Hair colour natural before greying - Red (1747) EFO_0007822 4.93e-56 4.93 -56 8.702 11.387 EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 108.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC1R Hair colour natural before greying - Red (1747) EFO_0007822 2.2300000000000002e-307 2.23 -307 8.338 9.316 EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 1557.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SRSF2 ICD10 Z51.3: Blood transfusion without reported diagnosis (Z51.3) 1.56e-12 1.56 -12 17.671 39.182 EUR HANCESTRO_0005 UK Biobank 450k GCST90081281 387930 1195 13.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN ICD10 I48: Atrial fibrillation and flutter EFO_0000275 2.8000000000000003e-23 2.8 -23 3.172 3.984 EUR HANCESTRO_0005 UK Biobank 450k GCST90080015 386856 20107 121.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON TTN ICD10 I48: Atrial fibrillation and flutter EFO_0000275 6.42e-32 6.42 -32 2.05 2.311 EUR HANCESTRO_0005 UK Biobank 450k GCST90080015 386856 20107 386.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NF1 Lymphocyte percentage (30180) EFO_0007993 5.01e-14 5.01 -14 -0.293 -0.396 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 314.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON NF1 Lymphocyte percentage (30180) EFO_0007993 1.95e-11 1.95 -11 -0.205 -0.29 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 465.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON CHD2 Lymphocyte percentage (30180) EFO_0007993 6.05e-12 6.05 -12 0.929 0.723 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 78.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GNB1 Lymphocyte percentage (30180) EFO_0007993 9.77e-14 9.77 -14 -0.293 -0.398 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 304.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON JAK2 Lymphocyte percentage (30180) EFO_0007993 7.42e-16 7.42 -16 -0.122 -0.161 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 2163.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANKRD12 Lymphocyte percentage (30180) EFO_0007993 3.81e-16 3.81 -16 -0.325 -0.428 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 312.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GMPR Mean corpuscular haemoglobin concentration (30060) EFO_0004528 8.32e-26 8.32 -26 0.195 0.165 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 3789.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 5.88e-12 5.88 -12 -1.281 -1.791 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APC ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 3.62e-14 3.62 -14 7.643 12.936 EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 28.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 4.97e-15 4.97 -15 2.928 3.831 EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 81.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.11e-81 3.11 -81 -1.797 -2.003 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON RHAG Mean corpuscular haemoglobin concentration (30060) EFO_0004528 1.5e-14 1.5 -14 0.641 0.511 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 209.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APC ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 3.62e-14 3.62 -14 7.643 12.936 EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 28.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TMPRSS6 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.77e-12 2.77 -12 -0.129 -0.179 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 1412.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.11e-81 3.11 -81 -1.797 -2.003 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 1.08e-13 1.08 -13 2.228 2.752 EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 121.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Body fat percentage (23099) EFO_0007800 9.17e-15 9.17 -15 0.199 0.159 EUR HANCESTRO_0005 UK Biobank 450k GCST90078903 423464 423464 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS17 Impedance of arm left (23110) HP_0000924 1.65e-11 1.65 -11 -0.158 -0.223 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 394.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON FGD1 Impedance of arm left (23110) HP_0000924 4.98e-12 4.98 -12 -0.315 -0.44 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 61.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON TTN Impedance of arm left (23110) HP_0000924 1.2800000000000001e-21 1.28 -21 0.1 0.083 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 5849.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Impedance of arm left (23110) HP_0000924 1.26e-32 1.26 -32 0.178 0.153 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 2646.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Impedance of arm left (23110) HP_0000924 1.2800000000000001e-21 1.28 -21 0.1 0.083 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 5849.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HMCN1 FEV1 FVC ratio Z score (20258) EFO_0004713 9.49e-22 9.49 -22 0.206 0.171 EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 2848.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MEGF6 FEV1 FVC ratio Z score (20258) EFO_0004713 2.34e-13 2.34 -13 0.139 0.11 EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 4077.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CHEK2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 1.06e-16 1.06 -16 1.849 2.138 EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 252.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON AGER FEV1 FVC ratio Z score (20258) EFO_0004713 2.37e-13 2.37 -13 -0.137 -0.187 EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 1395.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 2.76e-15 2.76 -15 1.673 1.9 EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 300.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PALB2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 1.01e-20 1.01 -20 4.663 6.443 EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 63.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 6.95e-21 6.95 -21 2.042 2.37 EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 235.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON AGER FEV1 FVC ratio Z score (20258) EFO_0004713 2.37e-13 2.37 -13 -0.137 -0.187 EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 1395.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 1.0600000000000001e-21 1.06 -21 3.878 5.118 EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 82.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CASR Phosphate (30810) EFO_0010968 1.87e-11 1.87 -11 -0.239 -0.338 EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 347.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ALPL Phosphate (30810) EFO_0010968 5.7e-149 5.7 -149 0.626 0.582 EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 1750.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ENPP1 Phosphate (30810) EFO_0010968 4.09e-27 4.09 -27 -0.301 -0.367 EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 759.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Impedance of arm right (23109) HP_0000924 6.4500000000000004e-27 6.45 -27 0.11 0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 5848.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON COL8A2 Impedance of arm right (23109) HP_0000924 3.61e-16 3.61 -16 0.37 0.299 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 322.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ADAMTS3 Impedance of arm right (23109) HP_0000924 3.98e-15 3.98 -15 -0.156 -0.208 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 614.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC4R Whole body fat mass (23100) EFO_0005409 2.08e-22 2.08 -22 0.307 0.256 EUR HANCESTRO_0005 UK Biobank 450k GCST90078904 423023 423023 1199.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IL33 Asthma (RGC) MONDO_0004979 2.05e-13 2.05 -13 0.725 0.79 EUR HANCESTRO_0005 UK Biobank 450k GCST90081461 375465 61807 572.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HNF1A Non cancer illness code self reported - diabetes/ICD10 E14 EFO_0000400 1.06e-11 1.06 -11 7.369 13.106 EUR HANCESTRO_0005 UK Biobank 450k GCST90077723 329052 16961 23.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN ICD10 I47: Paroxysmal tachycardia EFO_0009493 1.19e-13 1.19 -13 2.351 2.946 EUR HANCESTRO_0005 UK Biobank 450k GCST90080013 387060 4268 101.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLCO1B1 Total bilirubin (30840) EFO_0004570 5.52e-40 5.52 -40 0.408 0.355 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 886.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A3 Total bilirubin (30840) EFO_0004570 5.13e-16 5.13 -16 0.542 0.437 SAS HANCESTRO_0006 UK Biobank 450k 9811 9811 334.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Total bilirubin (30840) EFO_0004570 1.69e-13 1.69 -13 0.718 0.567 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 105.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON DGAT2 Total bilirubin (30840) EFO_0004570 2.47e-13 2.47 -13 0.13 0.103 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 3166.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A5 Total bilirubin (30840) EFO_0004570 6.67e-27 6.67 -27 0.289 0.244 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1661.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A1 Total bilirubin (30840) EFO_0004570 4.49e-17 4.49 -17 0.678 0.55 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 200.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SPTA1 Total bilirubin (30840) EFO_0004570 2.2e-26 2.2 -26 0.519 0.438 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 365.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON DGKD Total bilirubin (30840) EFO_0004570 1.55e-16 1.55 -16 -0.096 -0.126 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 3718.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A10 Total bilirubin (30840) EFO_0004570 5.9599999999999995e-53 5.96 -53 0.522 0.463 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 932.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC4A1 Total bilirubin (30840) EFO_0004570 2.2e-14 2.2 -14 0.834 0.664 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 82.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A6 Total bilirubin (30840) EFO_0004570 8.680000000000001e-56 8.68 -56 0.46 0.409 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1272.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A4 Total bilirubin (30840) EFO_0004570 4.0400000000000004e-35 4.04 -35 0.344 0.297 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1488.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A1 Total bilirubin (30840) EFO_0004570 4.5900000000000003e-66 4.59 -66 0.512 0.46 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1198.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MROH2A Total bilirubin (30840) EFO_0004570 9.33e-13 9.33 -13 -0.084 -0.116 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 3279.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RP11-545J16.1 Total bilirubin (30840) EFO_0004570 2.14e-20 2.14 -20 0.206 0.17 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1895.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ATP11C Total bilirubin (30840) EFO_0004570 1.86e-13 1.86 -13 0.368 0.291 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 291.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON UGT1A4 Total bilirubin (30840) EFO_0004570 1.67e-58 1.67 -58 0.566 0.505 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 875.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC4A1 Total bilirubin (30840) EFO_0004570 1.58e-18 1.58 -18 0.452 0.37 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 350.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON UGT1A10 Total bilirubin (30840) EFO_0004570 4.83e-17 4.83 -17 0.543 0.44 SAS HANCESTRO_0006 UK Biobank 450k 9811 9811 354.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTSL4 Forced expiratory volume in 1 second FEV1 Best measure (20150) EFO_0004314 1.67e-12 1.67 -12 -0.085 -0.117 EUR HANCESTRO_0005 UK Biobank 450k GCST90078316 322002 322002 1744.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Forced expiratory volume in 1 second FEV1 Best measure (20150) EFO_0004314 5.32e-12 5.32 -12 -0.06 -0.083 EUR HANCESTRO_0005 UK Biobank 450k GCST90078316 322002 322002 3321.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SRSF2 Eosinophil percentage (30210) EFO_0007991 3.68e-12 3.68 -12 -0.345 -0.481 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 182.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASXL1 Eosinophil percentage (30210) EFO_0007991 9.58e-13 9.58 -13 -0.142 -0.195 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 1165.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 5.33e-20 5.33 -20 2.859 3.58 EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 108.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Eosinophil percentage (30210) EFO_0007991 1.92e-50 1.92 -50 -0.287 -0.33 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 1791.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IL33 Eosinophil percentage (30210) EFO_0007991 9.22e-83 9.22 -83 -0.23 -0.256 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 4992.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Eosinophil percentage (30210) EFO_0007991 1.92e-50 1.92 -50 -0.287 -0.33 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 1791.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ORAI3 Basophil percentage (30220) EFO_0007992 1.08e-11 1.08 -11 -0.094 -0.132 EUR HANCESTRO_0005 UK Biobank 450k GCST90078999 418454 418454 2571.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Basal metabolic rate (23105) EFO_0007777 3.22e-29 3.22 -29 0.226 0.192 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Basal metabolic rate (23105) EFO_0007777 1.5e-13 1.5 -13 -0.043 -0.058 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 5845.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PAPPA2 Basal metabolic rate (23105) EFO_0007777 1.59e-12 1.59 -12 -0.076 -0.105 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 1621.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PDE3B Basal metabolic rate (23105) EFO_0007777 1.82e-12 1.82 -12 0.118 0.092 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 2067.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGF1R Basal metabolic rate (23105) EFO_0007777 1.93e-13 1.93 -13 -0.083 -0.113 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 1485.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Basal metabolic rate (23105) EFO_0007777 2.22e-14 2.22 -14 0.455 0.362 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 157.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Basal metabolic rate (23105) EFO_0007777 2.22e-14 2.22 -14 0.455 0.362 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 157.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Basal metabolic rate (23105) EFO_0007777 1.5e-13 1.5 -13 -0.043 -0.058 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 5845.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 I34: Nonrheumatic mitral valve disorders EFO_0009557 1.03e-12 1.03 -12 2.464 3.158 EUR HANCESTRO_0005 UK Biobank 450k GCST90079993 386860 3369 85.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GCK ICD10 E13.62: Other specified diabetes mellitus with skin complications EFO_0000400 1.12e-11 1.12 -11 5.184 8.336 EUR HANCESTRO_0005 UK Biobank 450k GCST90079744 386731 8622 29.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 1.7300000000000001e-29 1.73 -29 4.808 6.317 EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 88.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MLH1 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 6.4e-16 6.4 -16 15.747 30.728 EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 20.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 1.29e-21 1.29 -21 2.849 3.532 EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 122.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TYR Skin colour - Light olive (1717) EFO_0003784 1.5e-25 1.5 -25 0.435 0.508 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 166.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC45A2 Skin colour - Light olive (1717) EFO_0003784 1.37e-90 1.37 -90 0.287 0.324 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 223.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LIPG Apolipoprotein A (30630) EFO_0004732 8.29e-33 8.29 -33 0.359 0.309 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1074.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LIPG Apolipoprotein A (30630) EFO_0004732 6.559999999999999e-23 6.56 -23 0.899 0.75 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 124.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANGPTL7 3mm strong meridian right (5132) EFO_0004731 1.76e-12 1.76 -12 0.19 0.148 EUR HANCESTRO_0005 UK Biobank 450k GCST90079298 103540 103540 1842.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PLIN1 Apolipoprotein A (30630) EFO_0004732 5.06e-13 5.06 -13 0.283 0.223 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 766.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCA1 Apolipoprotein A (30630) EFO_0004732 6.64e-287 6.64 -287 -0.366 -0.387 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 6367.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SCARB1 Apolipoprotein A (30630) EFO_0004732 3.37e-16 3.37 -16 0.344 0.278 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 618.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LIPG Apolipoprotein A (30630) EFO_0004732 8.29e-33 8.29 -33 0.359 0.309 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1074.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 Illnesses of mother - None of the above group 2 (20110) EFO_0000493 2.21e-14 2.21 -14 0.651 0.726 EUR HANCESTRO_0005 UK Biobank 450k GCST90078283 423686 308506 920.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 3mm strong meridian right (5132) EFO_0004731 1.46e-15 1.46 -15 0.445 0.357 EUR HANCESTRO_0005 UK Biobank 450k GCST90079298 103540 103540 404.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LPL Apolipoprotein A (30630) EFO_0004732 6.16e-12 6.16 -12 -0.365 -0.511 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 130.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PDE3B Apolipoprotein A (30630) EFO_0004732 1.34e-18 1.34 -18 0.281 0.23 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1058.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LIPC Apolipoprotein A (30630) EFO_0004732 2.88e-66 2.88 -66 0.378 0.34 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1867.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CD36 Apolipoprotein A (30630) EFO_0004732 2.72e-28 2.72 -28 0.289 0.245 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1459.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ABCA1 Apolipoprotein A (30630) EFO_0004732 5.33e-69 5.33 -69 -0.793 -0.892 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 278.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON NFKBIE ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 3.9e-14 3.9 -14 34.001 84.781 EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 11.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CETP Apolipoprotein A (30630) EFO_0004732 9.46e-51 9.46 -51 0.764 0.676 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 361.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANGPTL8 Apolipoprotein A (30630) EFO_0004732 5.58e-13 5.58 -13 0.337 0.265 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 530.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADH1B Apolipoprotein A (30630) EFO_0004732 8.89e-12 8.89 -12 0.134 0.104 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 3055.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCA1 Apolipoprotein A (30630) EFO_0004732 2.2300000000000002e-307 2.23 -307 -0.701 -0.737 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 2137.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CETP Apolipoprotein A (30630) EFO_0004732 1.6199999999999998e-48 1.62 -48 0.523 0.462 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 739.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Treatment or Medication Code - rosuvastatin EFO_0007010 1.8299999999999999e-38 1.83 -38 6.732 8.981 EUR HANCESTRO_0005 UK Biobank 450k GCST90078225 320758 2905 83.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGFALS IGF 1 (30770) EFO_0004627 2.2299999999999997e-140 2.23 -140 -0.476 -0.516 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1916.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SMAD6 Ankle spacing width left (4100) EFO_0004324 1.96e-12 1.96 -12 0.381 0.298 EUR HANCESTRO_0005 UK Biobank 450k GCST90079148 166283 166283 360.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON IGFBP3 IGF 1 (30770) EFO_0004627 1.64e-13 1.64 -13 -0.308 -0.419 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 249.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R IGF 1 (30770) EFO_0004627 1.41e-21 1.41 -21 0.332 0.276 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 954.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON JAK2 IGF 1 (30770) EFO_0004627 2.09e-20 2.09 -20 -0.141 -0.179 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 2109.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TSHR ICD10 E03.9: Hypothyroidism, unspecified EFO_0004705 1.74e-13 1.74 -13 2.259 2.805 EUR HANCESTRO_0005 UK Biobank 450k GCST90079721 385358 19694 118.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZNF12 IGF 1 (30770) EFO_0004627 1.12e-18 1.12 -18 0.74 0.605 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 171.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 Ankle spacing width left (4100) EFO_0004324 4.6e-14 4.6 -14 0.621 0.493 EUR HANCESTRO_0005 UK Biobank 450k GCST90079148 166283 166283 151.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GHSR IGF 1 (30770) EFO_0004627 1.49e-12 1.49 -12 -0.108 -0.15 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1853.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 6mm strong meridian right (5133) EFO_0004731 4.81e-18 4.81 -18 0.504 0.411 EUR HANCESTRO_0005 UK Biobank 450k GCST90079299 90887 90887 354.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGFALS IGF 1 (30770) EFO_0004627 3.73e-136 3.73 -136 -0.343 -0.373 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 3579.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 Ankle spacing width left (4100) EFO_0004324 4.6e-14 4.6 -14 0.621 0.493 EUR HANCESTRO_0005 UK Biobank 450k GCST90079148 166283 166283 151.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PAPPA2 IGF 1 (30770) EFO_0004627 1.48e-16 1.48 -16 0.563 0.455 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 265.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TSHR ICD10 E03.9: Hypothyroidism, unspecified EFO_0004705 6.08e-13 6.08 -13 2.868 3.82 EUR HANCESTRO_0005 UK Biobank 450k GCST90079721 385358 19694 73.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PDE10A IGF 1 (30770) EFO_0004627 1.82e-13 1.82 -13 0.501 0.396 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 277.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Ankle spacing width left (4100) EFO_0004324 5.54e-12 5.54 -12 0.863 0.672 EUR HANCESTRO_0005 UK Biobank 450k GCST90079148 166283 166283 68.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Ankle spacing width left (4100) EFO_0004324 1.18e-13 1.18 -13 0.144 0.114 EUR HANCESTRO_0005 UK Biobank 450k GCST90079148 166283 166283 2758.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON KDM5B IGF 1 (30770) EFO_0004627 8.81e-12 8.81 -12 -0.284 -0.398 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 236.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TSHR ICD10 E03.9: Hypothyroidism, unspecified EFO_0004705 6.08e-13 6.08 -13 2.868 3.82 EUR HANCESTRO_0005 UK Biobank 450k GCST90079721 385358 19694 73.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 Ankle spacing width left (4100) EFO_0004324 1.21e-12 1.21 -12 0.295 0.232 EUR HANCESTRO_0005 UK Biobank 450k GCST90079148 166283 166283 610.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZNF12 IGF 1 (30770) EFO_0004627 1.12e-18 1.12 -18 0.74 0.605 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 171.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MIP Non cancer illness code self reported - cataract/ICD10 H26 MONDO_0005129 4.33e-14 4.33 -14 6.725 11.028 EUR HANCESTRO_0005 UK Biobank 450k GCST90077757 329052 7792 29.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TG Non cancer illness code self reported - hypothyroidism myxoedema EFO_1001055 2.08e-12 2.08 -12 1.914 2.294 EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 165.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 I50.9: Heart failure, unspecified EFO_0003144 3.35e-14 3.35 -14 3.64 5.083 EUR HANCESTRO_0005 UK Biobank 450k GCST90080022 387930 2407 52.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON COL4A3 Microalbumin in urine (30500) EFO_0010967 1.77e-16 1.77 -16 0.273 0.221 EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 1353.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 I50.9: Heart failure, unspecified EFO_0003144 1.41e-14 1.41 -14 2.985 3.943 EUR HANCESTRO_0005 UK Biobank 450k GCST90080022 387930 2407 71.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN ICD10 I50.9: Heart failure, unspecified EFO_0003144 1.25e-11 1.25 -11 2.445 3.168 EUR HANCESTRO_0005 UK Biobank 450k GCST90080022 387930 2407 78.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON COL4A4 Microalbumin in urine (30500) EFO_0010967 6.91e-12 6.91 -12 0.747 0.581 EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 134.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CUBN Microalbumin in urine (30500) EFO_0010967 3.98e-15 3.98 -15 0.293 0.234 EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 1083.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SMAD6 Ankle spacing width (3143) EFO_0004324 5.89e-19 5.89 -19 0.648 0.531 EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 178.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC4R Ankle spacing width (3143) EFO_0004324 7.56e-14 7.56 -14 0.289 0.229 EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 677.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 Z83.7: Family history of diseases of the digestive system EFO_0000493 4.45e-12 4.45 -12 15.69 34.21 EUR HANCESTRO_0005 UK Biobank 450k GCST90081342 387433 947 13.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ANKRD12 Education score England (26414) EFO_0011015 2.01e-13 2.01 -13 0.547 0.432 EUR HANCESTRO_0005 UK Biobank 450k GCST90078953 369491 369491 273.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Whole body fat free mass (23101) EFO_0004995 8.52e-23 8.52 -23 -0.087 -0.109 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 2643.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SCUBE3 Whole body fat free mass (23101) EFO_0004995 4.48e-14 4.48 -14 -0.07 -0.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 2062.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Whole body fat free mass (23101) EFO_0004995 2.95e-30 2.95 -30 0.321 0.274 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 554.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC4R Whole body fat free mass (23101) EFO_0004995 2.09e-14 2.09 -14 0.386 0.307 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 197.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GHRH Whole body fat free mass (23101) EFO_0004995 1.12e-13 1.12 -13 -0.257 -0.35 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 143.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PAPPA2 Whole body fat free mass (23101) EFO_0004995 1.99e-15 1.99 -15 -0.084 -0.112 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 1621.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Whole body fat free mass (23101) EFO_0004995 1.31e-22 1.31 -22 -0.14 -0.175 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 995.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON COL6A1 Corneal resistance factor left (5265) EFO_0010067 2.4000000000000002e-30 2.4 -30 -1.05 -1.266 EUR HANCESTRO_0005 UK Biobank 450k GCST90079340 105697 105697 73.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 C78: Secondary malignant neoplasm of respiratory and digestive organs EFO_0009812 2.64e-12 2.64 -12 4.171 6.224 EUR HANCESTRO_0005 UK Biobank 450k GCST90079625 387835 6526 38.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Leg fat free mass right (23113) EFO_0004995 2.68e-14 2.68 -14 0.349 0.278 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 257.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGF1R Leg fat free mass right (23113) EFO_0004995 2.9300000000000004e-21 2.93 -21 -0.184 -0.232 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 568.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Leg fat free mass right (23113) EFO_0004995 2.68e-14 2.68 -14 0.349 0.278 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 257.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 2.03e-17 2.03 -17 26.273 55.866 EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 16.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON IGFALS Leg fat free mass right (23113) EFO_0004995 7.61e-14 7.61 -14 -0.073 -0.099 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 1957.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 ICD10 Z99.2: Dependence on renal dialysis EFO_0010690 5.69e-29 5.69 -29 7.712 11.037 EUR HANCESTRO_0005 UK Biobank 450k GCST90081442 385553 1868 54.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ZFAT Leg fat free mass right (23113) EFO_0004995 1.53e-23 1.53 -23 0.297 0.248 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 554.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Leg fat free mass right (23113) EFO_0004995 6.74e-14 6.74 -14 0.471 0.373 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 138.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PKD1 ICD10 Z99.2: Dependence on renal dialysis EFO_0010690 2.88e-37 2.88 -37 31.226 52.985 EUR HANCESTRO_0005 UK Biobank 450k GCST90081442 385553 1868 34.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Leg fat free mass right (23113) EFO_0004995 1.68e-15 1.68 -15 0.413 0.331 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 197.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R Leg fat free mass right (23113) EFO_0004995 5.79e-22 5.79 -22 -0.142 -0.179 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 995.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON EGFL8 Non cancer illness code self reported - psoriasis EFO_0000676 3.45e-18 3.45 -18 2.355 2.857 EUR HANCESTRO_0005 UK Biobank 450k GCST90077855 331754 5389 139.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MLH1 ICD10 Z08.0: Follow-up examination after surgery for malignant neoplasm (Z08.0) EFO_0004542 3.93e-17 3.93 -17 20.185 40.644 EUR HANCESTRO_0005 UK Biobank 450k GCST90081197 387930 4711 18.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON FLG Asthma Strict CC (RGC) MONDO_0004979 6.53e-13 6.53 -13 1.231 1.303 EUR HANCESTRO_0005 UK Biobank 450k GCST90081460 376289 39436 1513.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CAD Mean reticulocyte volume (30260) EFO_0010701 1.76e-11 1.76 -11 0.076 0.059 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 11189.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON POLE Mean reticulocyte volume (30260) EFO_0010701 1.14e-25 1.14 -25 0.435 0.367 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 683.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON POLE Mean reticulocyte volume (30260) EFO_0010701 8.98e-17 8.98 -17 0.267 0.216 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1240.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SPTA1 Mean reticulocyte volume (30260) EFO_0010701 1.92e-35 1.92 -35 -0.558 -0.663 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 299.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SF3B1 Mean reticulocyte volume (30260) EFO_0010701 1.67e-14 1.67 -14 0.447 0.356 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 390.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RTEL1 Mean reticulocyte volume (30260) EFO_0010701 2.49e-17 2.49 -17 0.23 0.187 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1727.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RHAG Mean reticulocyte volume (30260) EFO_0010701 4.24e-30 4.24 -30 -0.61 -0.737 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 204.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CLSPN Mean reticulocyte volume (30260) EFO_0010701 8.45e-12 8.45 -12 0.47 0.365 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 295.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON E2F4 Mean reticulocyte volume (30260) EFO_0010701 3.57e-17 3.57 -17 1.938 1.573 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 24.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ATM ICD10 C77: Secondary and unspecified malignant neoplasm of lymph nodes MONDO_0024339 1e-13 10.0 -14 3.072 4.128 EUR HANCESTRO_0005 UK Biobank 450k GCST90079620 387882 7019 64.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean reticulocyte volume (30260) EFO_0010701 4.76e-47 4.76 -47 -1.163 -1.346 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 96.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SF3B1 Mean reticulocyte volume (30260) EFO_0010701 1.67e-14 1.67 -14 0.447 0.356 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 390.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANK1 Mean reticulocyte volume (30260) EFO_0010701 4.49e-29 4.49 -29 -1.306 -1.583 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 42.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON CAD Mean reticulocyte volume (30260) EFO_0010701 3.7200000000000003e-66 3.72 -66 1.369 1.229 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 164.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON RHAG Mean reticulocyte volume (30260) EFO_0010701 4.24e-30 4.24 -30 -0.61 -0.737 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 204.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON RTTN Mean reticulocyte volume (30260) EFO_0010701 3.23e-12 3.23 -12 -0.062 -0.086 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 5584.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ATM ICD10 C77: Secondary and unspecified malignant neoplasm of lymph nodes MONDO_0024339 2.36e-12 2.36 -12 2.04 2.489 EUR HANCESTRO_0005 UK Biobank 450k GCST90079620 387882 7019 126.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON E2F4 Mean reticulocyte volume (30260) EFO_0010701 3.57e-17 3.57 -17 1.938 1.573 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 24.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean reticulocyte volume (30260) EFO_0010701 9.289999999999999e-42 9.29 -42 -1.194 -1.396 SAS HANCESTRO_0006 UK Biobank 450k 9692 9692 99.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean reticulocyte volume (30260) EFO_0010701 4.76e-47 4.76 -47 -1.163 -1.346 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 96.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ATR Mean reticulocyte volume (30260) EFO_0010701 5.94e-13 5.94 -13 -0.178 -0.245 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 724.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON RHAG Mean reticulocyte volume (30260) EFO_0010701 2.29e-16 2.29 -16 -0.441 -0.579 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 171.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SPTA1 Mean reticulocyte volume (30260) EFO_0010701 1.09e-43 1.09 -43 -0.575 -0.669 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 365.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC4A1 Mean reticulocyte volume (30260) EFO_0010701 7.68e-21 7.68 -21 -0.357 -0.452 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 359.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ADCK3 Mean reticulocyte volume (30260) EFO_0010701 1.75e-15 1.75 -15 -0.124 -0.164 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 2002.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TRIM10 Mean reticulocyte volume (30260) EFO_0010701 1.27e-12 1.27 -12 0.404 0.316 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 429.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BTG2 Mean reticulocyte volume (30260) EFO_0010701 1.54e-11 1.54 -11 0.41 0.318 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 383.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SPTB Mean reticulocyte volume (30260) EFO_0010701 1.47e-23 1.47 -23 -1.083 -1.346 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 46.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON PLIN1 HDL cholesterol (30760) EFO_0004612 2.07e-15 2.07 -15 0.242 0.194 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1139.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PDE3B HDL cholesterol (30760) EFO_0004612 1.97e-39 1.97 -39 0.381 0.331 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1066.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LIPC HDL cholesterol (30760) EFO_0004612 7.74e-95 7.74 -95 0.32 0.292 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 3403.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APOB HDL cholesterol (30760) EFO_0004612 5.87e-22 5.87 -22 0.376 0.312 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 640.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LPL HDL cholesterol (30760) EFO_0004612 5.4e-20 5.4 -20 -0.52 -0.662 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 130.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ABCA1 HDL cholesterol (30760) EFO_0004612 4.6499999999999993e-104 4.65 -104 -0.637 -0.701 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 644.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCA1 HDL cholesterol (30760) EFO_0004612 1.53e-41 1.53 -41 -1.165 -1.363 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 66.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON LCAT HDL cholesterol (30760) EFO_0004612 1.1500000000000001e-29 1.15 -29 -1.039 -1.256 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 57.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANGPTL4 HDL cholesterol (30760) EFO_0004612 2.51e-14 2.51 -14 0.258 0.205 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 929.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANGPTL4 HDL cholesterol (30760) EFO_0004612 1.27e-21 1.27 -21 0.28 0.232 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1143.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL8 HDL cholesterol (30760) EFO_0004612 2.4600000000000003e-21 2.46 -21 0.408 0.338 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 528.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APOA5 HDL cholesterol (30760) EFO_0004612 8.160000000000001e-29 8.16 -29 -0.386 -0.469 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 382.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SH2B3 HDL cholesterol (30760) EFO_0004612 7.52e-13 7.52 -13 -0.099 -0.137 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1857.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CD36 HDL cholesterol (30760) EFO_0004612 1.52e-21 1.52 -21 0.166 0.138 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 3282.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LPL HDL cholesterol (30760) EFO_0004612 5.4e-20 5.4 -20 -0.52 -0.662 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 130.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR Treatment or Medication Code - atorvastatin EFO_0007010 1.02e-16 1.02 -16 4.793 6.939 EUR HANCESTRO_0005 UK Biobank 450k GCST90078178 320758 16654 51.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 I42.9: Cardiomyopathy, unspecified EFO_0000318 1.71e-13 1.71 -13 11.143 21.158 EUR HANCESTRO_0005 UK Biobank 450k GCST90079999 387930 681 18.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON TTN ICD10 I42.0: Dilated cardiomyopathy EFO_0000407 2.6400000000000003e-56 2.64 -56 14.177 19.695 EUR HANCESTRO_0005 UK Biobank 450k GCST90079998 387930 858 74.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN ICD10 I42.9: Cardiomyopathy, unspecified EFO_0000318 5.47e-17 5.47 -17 4.854 7.024 EUR HANCESTRO_0005 UK Biobank 450k GCST90079999 387930 681 45.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Leg predicted mass right (23114) EFO_0004302 9.74e-14 9.74 -14 0.436 0.345 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 157.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SPSB3 Leg predicted mass right (23114) EFO_0004302 2.89e-19 2.89 -19 -0.051 -0.065 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 6512.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN ICD10 I42.0: Dilated cardiomyopathy EFO_0000407 4.3900000000000005e-50 4.39 -50 8.086 10.649 EUR HANCESTRO_0005 UK Biobank 450k GCST90079998 387930 858 93.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PAPPA2 Leg predicted mass right (23114) EFO_0004302 5.98e-14 5.98 -14 -0.08 -0.109 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 1621.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Leg predicted mass right (23114) EFO_0004302 1.08e-28 1.08 -28 0.219 0.186 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Leg predicted mass right (23114) EFO_0004302 3e-15 3.0 -15 0.407 0.326 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 197.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Leg predicted mass right (23114) EFO_0004302 9.74e-14 9.74 -14 0.436 0.345 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 157.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MYO6 Hearing aid user - Yes (3393) EFO_0009720 1e-27 10.0 -28 4.043 5.197 EUR HANCESTRO_0005 UK Biobank 450k GCST90079053 281979 15741 106.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MYO6 Hearing aid user - Yes (3393) EFO_0009720 1.63e-20 1.63 -20 6.19 9.095 EUR HANCESTRO_0005 UK Biobank 450k GCST90079053 281979 15741 52.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR Treatment or Medication Code - simvastatin EFO_0007010 2.89e-13 2.89 -13 1.642 1.876 EUR HANCESTRO_0005 UK Biobank 450k GCST90078009 320758 51781 340.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MEPE Heel Broadband ultrasound attenuation direct entry (3144) EFO_0004514 1.11e-13 1.11 -13 -0.226 -0.307 EUR HANCESTRO_0005 UK Biobank 450k GCST90079049 246304 246304 453.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON G6PC Triglycerides (30870) EFO_0004530 1.38e-19 1.38 -19 0.26 0.213 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 1452.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LPL Triglycerides (30870) EFO_0004530 1.09e-14 1.09 -14 0.567 0.452 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 239.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON APOB Triglycerides (30870) EFO_0004530 2.11e-22 2.11 -22 -0.418 -0.523 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 281.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON APOC3 Triglycerides (30870) EFO_0004530 2.75e-16 2.75 -16 -0.695 -0.914 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 66.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOB Triglycerides (30870) EFO_0004530 2.07e-106 2.07 -106 -0.363 -0.399 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 2467.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOB Triglycerides (30870) EFO_0004530 2.4199999999999998e-234 2.42 -234 -1.049 -1.116 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 697.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANGPTL3 Triglycerides (30870) EFO_0004530 4.15e-137 4.15 -137 -0.509 -0.552 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 1648.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCKR Triglycerides (30870) EFO_0004530 1.49e-12 1.49 -12 0.122 0.096 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 4464.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PDE3B Triglycerides (30870) EFO_0004530 5e-20 5.0 -20 -0.214 -0.272 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 938.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOC3 Triglycerides (30870) EFO_0004530 1.13e-13 1.13 -13 -0.645 -0.877 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 59.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON G6PC Triglycerides (30870) EFO_0004530 5.65e-13 5.65 -13 0.306 0.241 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 721.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON POR Triglycerides (30870) EFO_0004530 2.84e-12 2.84 -12 -0.048 -0.066 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 9131.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL3 Triglycerides (30870) EFO_0004530 4.4e-31 4.4 -31 -0.095 -0.114 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 8406.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APOB Triglycerides (30870) EFO_0004530 2.4199999999999998e-234 2.42 -234 -1.049 -1.116 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 697.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CHEK2 Degree bothered by menstrual cramps or other problems with period in the last three months - Not bothered at all (21050) EFO_0009724 1.99e-13 1.99 -13 0.191 0.297 EUR HANCESTRO_0005 UK Biobank 450k GCST90078791 27107 22936 131.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON KDM5B Mean time to correctly identify matches (20023) EFO_0008354 1.29e-14 1.29 -14 0.279 0.222 EUR HANCESTRO_0005 UK Biobank 450k GCST90078252 427920 427920 1015.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON WNT1 Heel bone mineral density BMD T score automated left (4106) EFO_0009270 4.6e-13 4.6 -13 -0.361 -0.495 EUR HANCESTRO_0005 UK Biobank 450k GCST90079153 166283 166283 167.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APOC3 Cholesterol lowering medication (6177) EFO_0007010 1.11e-12 1.11 -12 0.433 0.546 EUR HANCESTRO_0005 UK Biobank 450k GCST90079486 69473 49091 171.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Non cancer illness code self reported - high cholesterol HP_0003124 4.27e-23 4.27 -23 8.631 13.226 EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 60.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LDLR Non cancer illness code self reported - high cholesterol HP_0003124 2.33e-99 2.33 -99 3.504 3.936 EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 601.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB Non cancer illness code self reported - high cholesterol HP_0003124 1.02e-22 1.02 -22 0.194 0.269 EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 23.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 Z83: Family history of other specific disorders EFO_0000493 4.36e-15 4.36 -15 18.592 38.592 EUR HANCESTRO_0005 UK Biobank 450k GCST90081343 376753 4125 16.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON NF1 Cystatin C (30720) EFO_0004617 6.53e-14 6.53 -14 0.232 0.184 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 1118.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON APC Non cancer illness code self reported - rectal or colon adenoma polyps EFO_1000633 1.17e-15 1.17 -15 39.389 96.798 EUR HANCESTRO_0005 UK Biobank 450k GCST90077867 331754 1530 12.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC7A9 Cystatin C (30720) EFO_0004617 6.22e-12 6.22 -12 -0.07 -0.098 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 3312.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CGNL1 Cystatin C (30720) EFO_0004617 2.6e-20 2.6 -20 0.641 0.529 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 206.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC7A9 Cystatin C (30720) EFO_0004617 6.22e-12 6.22 -12 -0.07 -0.098 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 3312.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GIGYF1 Cystatin C (30720) EFO_0004617 3.68e-12 3.68 -12 0.591 0.461 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 154.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CST3 Cystatin C (30720) EFO_0004617 6.58e-29 6.58 -29 -2.767 -3.356 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 8.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON CST3 Cystatin C (30720) EFO_0004617 2.0099999999999997e-30 2.01 -30 -2.438 -2.941 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 11.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON SLC34A3 Cystatin C (30720) EFO_0004617 1.4800000000000002e-43 1.48 -43 0.219 0.192 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 3539.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SRSF2 ICD10 A41.9: Sepsis, unspecified organism HP_0100806 1.99e-19 1.99 -19 11.6 19.766 EUR HANCESTRO_0005 UK Biobank 450k GCST90079545 387517 4673 28.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CST9L Cystatin C (30720) EFO_0004617 1.55e-11 1.55 -11 -0.265 -0.373 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 237.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CST3 Cystatin C (30720) EFO_0004617 2.2300000000000002e-307 2.23 -307 -2.817 -2.916 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 282.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SH2B3 Cystatin C (30720) EFO_0004617 2.0600000000000002e-26 2.06 -26 0.232 0.196 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 2002.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CST3 Cystatin C (30720) EFO_0004617 2.2300000000000002e-307 2.23 -307 -2.604 -2.726 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 189.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LRP2 Cystatin C (30720) EFO_0004617 2.24e-17 2.24 -17 -0.327 -0.426 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 269.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON CLDN10 Cystatin C (30720) EFO_0004617 6.5e-25 6.5 -25 1.001 0.841 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 101.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CST9L Cystatin C (30720) EFO_0004617 1.55e-11 1.55 -11 -0.265 -0.373 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 237.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 Illnesses of siblings - Breast cancer (20111) EFO_0009640 1.22e-16 1.22 -16 1.647 1.853 EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 349.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 I50.1: Left ventricular failure, unspecified EFO_0003144 5.46e-12 5.46 -12 3.968 5.871 EUR HANCESTRO_0005 UK Biobank 450k GCST90080021 387725 4762 39.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON TTN ICD10 I50.1: Left ventricular failure, unspecified EFO_0003144 2.49e-17 2.49 -17 3.017 3.896 EUR HANCESTRO_0005 UK Biobank 450k GCST90080021 387725 4762 86.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 Illnesses of siblings - Breast cancer (20111) EFO_0009640 9.7e-23 9.7 -23 3.939 5.179 EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 84.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IDH2 ICD10 C92: Myeloid leukemia EFO_0002427 9.48e-17 9.48 -17 19.113 38.327 EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 17.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON DNMT3A ICD10 C92: Myeloid leukemia EFO_0002427 9.68e-12 9.68 -12 4.156 6.262 EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 35.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 ICD10 C92: Myeloid leukemia EFO_0002427 3.2900000000000002e-21 3.29 -21 9.96 16.04 EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 32.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SRSF2 ICD10 C92: Myeloid leukemia EFO_0002427 1.96e-43 1.96 -43 82.08 153.368 EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 29.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IDH2 ICD10 C92: Myeloid leukemia EFO_0002427 4.34e-15 4.34 -15 13.482 25.824 EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 18.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON FLG AtopicDermatitis (RGC) EFO_0000274 8.8e-50 8.8 -50 1.825 1.976 EUR HANCESTRO_0005 UK Biobank 450k GCST90081462 276670 15131 822.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 1.2400000000000001e-29 1.24 -29 2.531 2.973 EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 209.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Arm fat mass left (23124) EFO_0005409 2.69e-15 2.69 -15 0.642 0.514 EUR HANCESTRO_0005 UK Biobank 450k GCST90078927 423512 423512 197.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 1.33e-19 1.33 -19 4.264 5.836 EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 64.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 1.98e-15 1.98 -15 5.696 8.75 EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 41.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PALB2 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 1.01e-12 1.01 -12 3.011 4.077 EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 62.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Red blood cell erythrocyte count (30010) EFO_0004305 2.36e-12 2.36 -12 -0.094 -0.13 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 1779.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 5.6e-106 5.6 -106 2.217 2.035 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACO1 Red blood cell erythrocyte count (30010) EFO_0004305 1.08e-14 1.08 -14 0.106 0.084 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 5181.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TFRC Red blood cell erythrocyte count (30010) EFO_0004305 2.76e-24 2.76 -24 1.018 0.853 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 87.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.8000000000000002e-158 1.8 -158 2.277 2.122 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 98.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.59e-14 1.59 -14 2.235 1.781 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CAD Red blood cell erythrocyte count (30010) EFO_0004305 1.27e-12 1.27 -12 -0.278 -0.384 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 210.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANKRD12 Red blood cell erythrocyte count (30010) EFO_0004305 1.18e-12 1.18 -12 0.401 0.314 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 312.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PALB2 Illnesses of mother - Breast cancer (20110) EFO_0009640 9.87e-21 9.87 -21 2.595 3.17 EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 146.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 Illnesses of mother - Breast cancer (20110) EFO_0009640 2.37e-20 2.37 -20 2.223 2.633 EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 194.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON KLF1 Red blood cell erythrocyte count (30010) EFO_0004305 4.87e-14 4.87 -14 0.47 0.373 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 250.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.59e-14 1.59 -14 2.235 1.781 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GMPR Red blood cell erythrocyte count (30010) EFO_0004305 1.2e-18 1.2 -18 -0.088 -0.114 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 3789.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 Illnesses of mother - Breast cancer (20110) EFO_0009640 1.25e-11 1.25 -11 3.043 4.198 EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 59.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PKD1 ICD10 N18.9: Chronic kidney disease, unspecified EFO_0003884 1.6899999999999999e-28 1.69 -28 11.592 17.887 EUR HANCESTRO_0005 UK Biobank 450k GCST90080583 387930 3916 42.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON PKHD1 Gamma glutamyltransferase (30730) EFO_0004532 1.02e-17 1.02 -17 0.211 0.172 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1843.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TNFRSF10B Gamma glutamyltransferase (30730) EFO_0004532 4.44e-12 4.44 -12 0.224 0.174 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1165.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON A1CF Gamma glutamyltransferase (30730) EFO_0004532 2.27e-12 2.27 -12 0.63 0.493 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 150.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LRRC75B Gamma glutamyltransferase (30730) EFO_0004532 4.16e-34 4.16 -34 0.165 0.142 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 5589.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EXOC3L4 Gamma glutamyltransferase (30730) EFO_0004532 8.91e-14 8.91 -14 -0.183 -0.249 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 668.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GGT1 Gamma glutamyltransferase (30730) EFO_0004532 7.2e-52 7.2 -52 -1.186 -1.362 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 94.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Body mass index BMI (23104) EFO_0004340 2.57e-16 2.57 -16 0.67 0.541 EUR HANCESTRO_0005 UK Biobank 450k GCST90078907 423694 423694 197.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Body mass index BMI (23104) EFO_0004340 2.57e-16 2.57 -16 0.67 0.541 EUR HANCESTRO_0005 UK Biobank 450k GCST90078907 423694 423694 197.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SPHK1 High light scatter reticulocyte count (30300) EFO_0007986 5.01e-38 5.01 -38 -0.128 -0.15 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 6363.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MFSD2B High light scatter reticulocyte count (30300) EFO_0007986 2.86e-24 2.86 -24 -0.107 -0.132 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 5756.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RHAG High light scatter reticulocyte count (30300) EFO_0007986 2.12e-26 2.12 -26 0.821 0.693 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 203.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC4A1 High light scatter reticulocyte count (30300) EFO_0007986 2.94e-29 2.94 -29 1.983 1.688 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 38.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC4A1 High light scatter reticulocyte count (30300) EFO_0007986 7.21e-13 7.21 -13 0.447 0.351 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 359.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SPTA1 High light scatter reticulocyte count (30300) EFO_0007986 5.36e-31 5.36 -31 0.66 0.564 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 365.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB High light scatter reticulocyte count (30300) EFO_0007986 1.4700000000000002e-31 1.47 -31 1.291 1.106 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 96.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GMPR High light scatter reticulocyte count (30300) EFO_0007986 4.82e-62 4.82 -62 0.284 0.254 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 3713.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SRSF2 High light scatter reticulocyte count (30300) EFO_0007986 6.25e-12 6.25 -12 0.868 0.675 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 89.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB High light scatter reticulocyte count (30300) EFO_0007986 2.49e-15 2.49 -15 0.954 0.765 SAS HANCESTRO_0006 UK Biobank 450k 9690 9690 99.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 Z40: Encounter for prophylactic surgery EFO_0009580 6.91e-14 6.91 -14 1.786 2.079 EUR HANCESTRO_0005 UK Biobank 450k GCST90081254 347298 40136 238.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON NF1 Non cancer illness code self reported - other neurological problem EFO_0000618 5.4199999999999996e-30 5.42 -30 10.042 14.943 EUR HANCESTRO_0005 UK Biobank 450k GCST90077842 331754 1794 47.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON NF1 Non cancer illness code self reported - other neurological problem EFO_0000618 2.7599999999999995e-23 2.76 -23 6.056 8.638 EUR HANCESTRO_0005 UK Biobank 450k GCST90077842 331754 1794 52.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SIX6 Spherical power right (5084) EFO_0004731 6.2e-21 6.2 -21 -0.179 -0.227 EUR HANCESTRO_0005 UK Biobank 450k GCST90079267 107475 107475 1505.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CHEK2 DD Cancer - Yes (2453) EFO_0000311 6.82e-20 6.82 -20 1.458 1.581 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 804.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 DD Cancer - Yes (2453) EFO_0000311 7.86e-35 7.86 -35 2.518 2.917 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 274.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ATM DD Cancer - Yes (2453) EFO_0000311 8.52e-13 8.52 -13 1.464 1.626 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 455.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TP53 DD Cancer - Yes (2453) EFO_0000311 5.47e-12 5.47 -12 2.383 3.05 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 96.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MLH1 DD Cancer - Yes (2453) EFO_0000311 1.18e-15 1.18 -15 10.377 18.4 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 28.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 ICD10 M50: Cervical disc disorders EFO_0009537 2.48e-12 2.48 -12 9.558 17.975 EUR HANCESTRO_0005 UK Biobank 450k GCST90080494 386602 2103 18.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TYRP1 Ease of skin tanning - Get very tanned (1727) EFO_0007009 3.79e-13 3.79 -13 0.297 0.412 EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 29.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC1R Ease of skin tanning - Get very tanned (1727) EFO_0007009 9.55e-115 9.55 -115 0.404 0.437 EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 594.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NOTCH1 White blood cell leukocyte count (30000) EFO_0004308 1.2500000000000001e-22 1.25 -22 1.61 1.341 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 47.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SH2B3 White blood cell leukocyte count (30000) EFO_0004308 4.53e-43 4.53 -43 0.244 0.213 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 3695.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CXCR4 White blood cell leukocyte count (30000) EFO_0004308 9.080000000000001e-21 9.08 -21 0.573 0.474 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 345.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Leg fat mass left (23116) EFO_0005409 2.34e-13 2.34 -13 0.487 0.385 EUR HANCESTRO_0005 UK Biobank 450k GCST90078919 423640 423640 197.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON OCA2 Ease of skin tanning - Get very tanned (1727) EFO_0007009 4.49e-62 4.49 -62 0.424 0.469 EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 373.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SHBG SHBG (30830) EFO_0004696 2.55e-35 2.55 -35 -1.165 -1.383 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 58.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON NF1 SHBG (30830) EFO_0004696 1.37e-15 1.37 -15 0.266 0.214 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 1009.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON IRS1 Seated height (51) EFO_0011011 2.48e-12 2.48 -12 -0.301 -0.417 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 145.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HNF4A SHBG (30830) EFO_0004696 3.1199999999999998e-30 3.12 -30 -0.323 -0.39 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 582.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Seated height (51) EFO_0011011 1.53e-11 1.53 -11 -0.051 -0.073 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 4492.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZNF770 SHBG (30830) EFO_0004696 1.47e-13 1.47 -13 0.561 0.443 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 189.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZNF770 SHBG (30830) EFO_0004696 1.8e-18 1.8 -18 0.976 0.798 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 82.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Seated height (51) EFO_0011011 1.21e-26 1.21 -26 0.38 0.321 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 568.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SHBG SHBG (30830) EFO_0004696 2.2300000000000002e-307 2.23 -307 -1.272 -1.332 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 769.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SHBG SHBG (30830) EFO_0004696 2.2300000000000002e-307 2.23 -307 -1.284 -1.305 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 6132.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SCUBE3 Seated height (51) EFO_0011011 5.71e-16 5.71 -16 -0.097 -0.127 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 2094.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Hand grip strength right (47) EFO_0006941 9.69e-13 9.69 -13 -0.045 -0.062 EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 5940.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON EP400 Hand grip strength right (47) EFO_0006941 2.05e-13 2.05 -13 -0.368 -0.502 EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 96.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON KDM5B Hand grip strength right (47) EFO_0006941 2.45e-15 2.45 -15 -0.25 -0.332 EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 256.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON KDM5B Hand grip strength right (47) EFO_0006941 1.15e-14 1.15 -14 -0.247 -0.331 EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 245.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON COL4A4 ICD10 R31: Hematuria HP_0000790 4.19e-18 4.19 -18 5.809 8.646 EUR HANCESTRO_0005 UK Biobank 450k GCST90080842 383009 19710 45.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON COL4A4 ICD10 R31: Hematuria HP_0000790 1.59e-13 1.59 -13 5.15 7.96 EUR HANCESTRO_0005 UK Biobank 450k GCST90080842 383009 19710 36.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Impedance of whole body (23106) HP_0000924 3.99e-18 3.99 -18 0.099 0.081 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 5847.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PIEZO1 Trunk predicted mass (23130) EFO_0004324 1.54e-12 1.54 -12 -0.042 -0.058 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 4680.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PAPPA2 Trunk predicted mass (23130) EFO_0004324 2.5e-13 2.5 -13 -0.179 -0.245 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 285.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Impedance of whole body (23106) HP_0000924 1.05e-25 1.05 -25 -0.196 -0.241 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Trunk predicted mass (23130) EFO_0004324 6.69e-15 6.69 -15 0.421 0.336 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 170.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADAMTS17 Impedance of whole body (23106) HP_0000924 1.16e-17 1.16 -17 -0.073 -0.095 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 4065.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Trunk predicted mass (23130) EFO_0004324 3.39e-21 3.39 -21 0.185 0.153 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 1200.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CRP C reactive protein (30710) EFO_0004458 9.23e-13 9.23 -13 -0.475 -0.655 SAS HANCESTRO_0006 UK Biobank 450k 9815 9815 101.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Leg fat mass right (23112) EFO_0005409 3.83e-25 3.83 -25 0.265 0.223 EUR HANCESTRO_0005 UK Biobank 450k GCST90078915 423659 423659 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGF1R Trunk predicted mass (23130) EFO_0004324 2.55e-14 2.55 -14 -0.083 -0.111 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 1485.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADAMTS3 Impedance of whole body (23106) HP_0000924 2.25e-20 2.25 -20 -0.11 -0.14 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 2184.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGF1R Trunk predicted mass (23130) EFO_0004324 2.02e-13 2.02 -13 -0.359 -0.49 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 71.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC4R Impedance of whole body (23106) HP_0000924 4.31e-13 4.31 -13 -0.265 -0.363 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 197.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Impedance of whole body (23106) HP_0000924 4.31e-13 4.31 -13 -0.265 -0.363 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 197.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IRS1 Trunk predicted mass (23130) EFO_0004324 4.43e-25 4.43 -25 -0.4 -0.494 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 140.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SCUBE3 Trunk predicted mass (23130) EFO_0004324 6.28e-15 6.28 -15 -0.073 -0.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 2062.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON THBS4 Impedance of whole body (23106) HP_0000924 2.09e-14 2.09 -14 -0.05 -0.068 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 6442.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Impedance of whole body (23106) HP_0000924 3.99e-18 3.99 -18 0.099 0.081 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 5847.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IRS1 Trunk predicted mass (23130) EFO_0004324 4.43e-25 4.43 -25 -0.4 -0.494 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 140.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ALB Calcium (30680) EFO_0004838 1.5499999999999998e-40 1.55 -40 -0.936 -1.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 134.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON OCA2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 9.239999999999999e-111 9.24 -111 2.527 2.741 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 1094.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CASR Calcium (30680) EFO_0004838 1.65e-48 1.65 -48 0.608 0.537 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 685.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ALB Calcium (30680) EFO_0004838 1.5499999999999998e-40 1.55 -40 -0.936 -1.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 134.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CASR Calcium (30680) EFO_0004838 1.65e-48 1.65 -48 0.608 0.537 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 685.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ALB Calcium (30680) EFO_0004838 1.96e-12 1.96 -12 -0.574 -0.796 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 71.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON KDM5B Duration to first press of snap button in each round (404) EFO_0008354 4.35e-14 4.35 -14 0.546 0.434 EUR HANCESTRO_0005 UK Biobank 450k GCST90079143 428085 428085 253.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCM2 Calcium (30680) EFO_0004838 1.11e-17 1.11 -17 0.27 0.22 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 1383.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ALB Calcium (30680) EFO_0004838 1.51e-34 1.51 -34 -0.293 -0.348 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 1128.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FCGRT Calcium (30680) EFO_0004838 5.59e-12 5.59 -12 -0.546 -0.764 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 74.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC1R Ease of skin tanning - Never tan only burn (1727) EFO_0007009 2.02e-249 2.02 -249 2.772 2.941 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 2060.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ALPL Alkaline phosphatase (30610) EFO_0004533 3.21e-22 3.21 -22 -1.493 -1.872 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 21.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON ASGR1 Alkaline phosphatase (30610) EFO_0004533 4.94e-65 4.94 -65 1.082 0.971 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 240.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ALPL Alkaline phosphatase (30610) EFO_0004533 8.28e-12 8.28 -12 -1.509 -2.115 AFR HANCESTRO_0010 UK Biobank 450k 8544 8544 10.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GPLD1 Alkaline phosphatase (30610) EFO_0004533 2.2300000000000002e-307 2.23 -307 -0.755 -0.779 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 5096.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ALPL Alkaline phosphatase (30610) EFO_0004533 1.01e-11 1.01 -11 -1.211 -1.7 EAS HANCESTRO_0009 UK Biobank 450k 2109 2109 12.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCB11 Alkaline phosphatase (30610) EFO_0004533 1.06e-23 1.06 -23 0.706 0.591 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 224.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GPLD1 Alkaline phosphatase (30610) EFO_0004533 6.5e-152 6.5 -152 -0.721 -0.779 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 893.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASGR1 Alkaline phosphatase (30610) EFO_0004533 4.25e-23 4.25 -23 1.225 1.023 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 73.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GPLD1 Alkaline phosphatase (30610) EFO_0004533 1.02e-18 1.02 -18 -0.634 -0.815 AFR HANCESTRO_0010 UK Biobank 450k 8544 8544 116.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ALPL Alkaline phosphatase (30610) EFO_0004533 1.13e-12 1.13 -12 -1.349 -1.862 AFR HANCESTRO_0010 UK Biobank 450k 8544 8544 14.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB Alkaline phosphatase (30610) EFO_0004533 3.57e-15 3.57 -15 -0.197 -0.262 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 700.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 D12: Benign neoplasm of colon, rectum, anus and anal canal EFO_0002422 1.01e-18 1.01 -18 14.526 26.302 EUR HANCESTRO_0005 UK Biobank 450k GCST90079662 387680 16948 26.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON ABCB11 Alkaline phosphatase (30610) EFO_0004533 1.42e-33 1.42 -33 0.285 0.245 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 1887.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NR1H4 Alkaline phosphatase (30610) EFO_0004533 1.43e-14 1.43 -14 -0.065 -0.087 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 6055.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ALPL Alkaline phosphatase (30610) EFO_0004533 2.2300000000000002e-307 2.23 -307 -2.083 -2.173 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 369.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON B4GALNT3 Alkaline phosphatase (30610) EFO_0004533 1.16e-11 1.16 -11 0.299 0.232 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 665.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ALPL Alkaline phosphatase (30610) EFO_0004533 2.2300000000000002e-307 2.23 -307 -2.243 -2.297 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 1050.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ABCB11 Alkaline phosphatase (30610) EFO_0004533 9.47e-43 9.47 -43 0.297 0.26 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 2172.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCB11 Alkaline phosphatase (30610) EFO_0004533 1.06e-23 1.06 -23 0.706 0.591 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 224.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GPLD1 Alkaline phosphatase (30610) EFO_0004533 7.049999999999999e-45 7.05 -45 -0.513 -0.596 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 436.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ENG ICD10 I78: Diseases of capillaries EFO_0004264 9.640000000000001e-27 9.64 -27 212.772 567.713 EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 14.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ENG ICD10 I78: Diseases of capillaries EFO_0004264 5.78e-17 5.78 -17 26.986 58.381 EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 15.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ENG ICD10 I78: Diseases of capillaries EFO_0004264 9.640000000000001e-27 9.64 -27 212.772 567.713 EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 14.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 ICD10 D63.165.8: Anemia in chronic kidney disease EFO_0004272 1.6e-12 1.6 -12 20.426 47.166 EUR HANCESTRO_0005 UK Biobank 450k GCST90079710 387885 936 12.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANK1 Reticulocyte percentage (30240) EFO_0010700 7.61e-20 7.61 -20 1.61 1.325 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 42.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON SRSF2 Reticulocyte percentage (30240) EFO_0010700 3.18e-38 3.18 -38 1.061 0.921 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 175.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 3mm strong meridian left (5135) EFO_0004731 3.2e-15 3.2 -15 0.44 0.352 EUR HANCESTRO_0005 UK Biobank 450k GCST90079301 103531 103531 404.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 3.2e-26 3.2 -26 8.874 13.291 EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 44.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GMPR Reticulocyte percentage (30240) EFO_0010700 6.42e-12 6.42 -12 0.301 0.234 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 765.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SPTB Reticulocyte percentage (30240) EFO_0010700 4.02e-16 4.02 -16 1.399 1.128 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 46.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON SMAD6 3mm strong meridian left (5135) EFO_0004731 3.2e-15 3.2 -15 0.44 0.352 EUR HANCESTRO_0005 UK Biobank 450k GCST90079301 103531 103531 404.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Reticulocyte percentage (30240) EFO_0010700 2.4e-25 2.4 -25 0.277 0.233 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1767.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 9.06e-28 9.06 -28 9.076 13.484 EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 46.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC4A1 Reticulocyte percentage (30240) EFO_0010700 8.5e-27 8.5 -27 2.389 2.02 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 25.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON WNT1 Heel bone mineral density BMD T score automated right (4125) EFO_0009270 1.64e-12 1.64 -12 -0.347 -0.48 EUR HANCESTRO_0005 UK Biobank 450k GCST90079159 166358 166358 167.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS17 Impedance of leg right (23107) HP_0000924 1.29e-13 1.29 -13 -0.092 -0.125 EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 2462.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON INSC Heel bone mineral density BMD T score automated right (4125) EFO_0009270 6.65e-14 6.65 -14 0.118 0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90079159 166358 166358 5126.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R Impedance of leg right (23107) HP_0000924 8.7e-12 8.7 -12 0.234 0.181 EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 996.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON WNT1 Heel bone mineral density BMD T score automated right (4125) EFO_0009270 1.64e-12 1.64 -12 -0.347 -0.48 EUR HANCESTRO_0005 UK Biobank 450k GCST90079159 166358 166358 167.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON EGLN1 Haematocrit percentage (30030) EFO_0004348 1.76e-11 1.76 -11 1.267 0.981 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 28.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON CALR Haematocrit percentage (30030) EFO_0004348 1.88e-13 1.88 -13 -0.494 -0.673 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 71.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON AMPD3 Haematocrit percentage (30030) EFO_0004348 1.22e-11 1.22 -11 -0.034 -0.048 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 11976.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FLCN ICD10 J93: Pneumothorax and air leak MONDO_0002076 3.42e-17 3.42 -17 18.78 37.136 EUR HANCESTRO_0005 UK Biobank 450k GCST90080153 387375 1190 18.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ACO1 Haematocrit percentage (30030) EFO_0004348 8.2e-20 8.2 -20 0.119 0.098 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 5181.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FLCN ICD10 J93: Pneumothorax and air leak MONDO_0002076 2.51e-24 2.51 -24 51.292 109.49 EUR HANCESTRO_0005 UK Biobank 450k GCST90080153 387375 1190 18.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR Blood pressure medication (6177) EFO_0007010 6.09e-20 6.09 -20 0.39 0.478 EUR HANCESTRO_0005 UK Biobank 450k GCST90079487 69473 51432 224.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Haematocrit percentage (30030) EFO_0004348 4.95e-15 4.95 -15 -0.108 -0.143 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1779.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TMPRSS6 Haematocrit percentage (30030) EFO_0004348 6.33e-13 6.33 -13 -0.212 -0.292 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 361.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SF3B1 Haematocrit percentage (30030) EFO_0004348 7.16e-13 7.16 -13 -0.203 -0.28 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 394.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APC ICD10 Z93: Artificial opening status EFO_0002571 4.01e-22 4.01 -22 27.213 53.156 EUR HANCESTRO_0005 UK Biobank 450k GCST90081416 387863 3783 21.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SHBG Heel bone mineral density BMD T score automated (78) EFO_0009270 1.08e-11 1.08 -11 0.122 0.095 EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 4045.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 Z93: Artificial opening status EFO_0002571 4.01e-22 4.01 -22 27.213 53.156 EUR HANCESTRO_0005 UK Biobank 450k GCST90081416 387863 3783 21.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LRP5 Heel bone mineral density BMD T score automated (78) EFO_0009270 9.82e-14 9.82 -14 -0.443 -0.601 EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 120.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON FLG AdultAsthmaCases vs AdultAsthmaControls (RGC) MONDO_0004979 4.93e-12 4.93 -12 1.437 1.593 EUR HANCESTRO_0005 UK Biobank 450k GCST90081448 43138 16937 786.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 LDL direct (30780) EFO_0004611 2.88e-13 2.88 -13 -0.777 -1.063 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 41.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON RRBP1 LDL direct (30780) EFO_0004611 2.7e-16 2.7 -16 -0.417 -0.548 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 192.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON APOB LDL direct (30780) EFO_0004611 5.97e-193 5.97 -193 -0.52 -0.557 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 2472.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NPC1L1 LDL direct (30780) EFO_0004611 6.87e-15 6.87 -15 -0.117 -0.156 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 2155.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PCSK9 LDL direct (30780) EFO_0004611 2.06e-14 2.06 -14 -0.427 -0.573 AFR HANCESTRO_0010 UK Biobank 450k 8527 8527 159.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR Treatment or Medication Code - ezetimibe EFO_0007010 1.4399999999999997e-23 1.44 -23 15.813 27.157 EUR HANCESTRO_0005 UK Biobank 450k GCST90078226 320758 2675 29.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ALB LDL direct (30780) EFO_0004611 3.28e-14 3.28 -14 0.73 0.58 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 147.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH6 Type of Cancer: Malignant neoplasm of corpus uteri (40006) EFO_0007532 2.68e-23 2.68 -23 6.57 9.522 EUR HANCESTRO_0005 UK Biobank 450k GCST90079110 41005 1612 54.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CYP2R1 Vitamin D (30890) EFO_0004631 8.21e-20 8.21 -20 -0.22 -0.28 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 965.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 1.9599999999999997e-30 1.96 -30 14.15 22.257 EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 40.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 2.54e-30 2.54 -30 14.668 23.235 EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 39.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Treatment or Medication Code - warfarin EFO_0007010 6.96e-14 6.96 -14 2.802 3.67 EUR HANCESTRO_0005 UK Biobank 450k GCST90078123 320758 4740 76.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Treatment or Medication Code - warfarin EFO_0007010 6.96e-14 6.96 -14 2.802 3.67 EUR HANCESTRO_0005 UK Biobank 450k GCST90078123 320758 4740 76.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MYOC Intra ocular pressure Goldmann correlated right (5255) EFO_0004695 1.93e-12 1.93 -12 0.437 0.342 EUR HANCESTRO_0005 UK Biobank 450k GCST90079334 105888 105888 395.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC26A5 hearing loss (RGC) EFO_0004238 2.9e-17 2.9 -17 2.029 2.391 EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 307.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CYP21A2 ICD10 Z88.0: Allergy status to penicillin MONDO_0005271 2.26e-13 2.26 -13 1.438 1.585 EUR HANCESTRO_0005 UK Biobank 450k GCST90081381 386040 20233 500.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GJB2 hearing loss (RGC) EFO_0004238 7.67e-12 7.67 -12 1.225 1.298 EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 2014.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 6mm weak meridian left (5097) EFO_0004731 3.95e-15 3.95 -15 0.47 0.376 EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 349.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PRSS56 6mm weak meridian left (5097) EFO_0004731 1.02e-11 1.02 -11 0.623 0.484 EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 159.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 3.32e-34 3.32 -34 13.448 20.421 EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 47.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 1.6e-20 1.6 -20 8.832 13.987 EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 35.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON NF1 ICD10 D36: Benign neoplasm of other and unspecified sites EFO_0002422 5.21e-47 5.21 -47 61.223 107.185 EUR HANCESTRO_0005 UK Biobank 450k GCST90079695 387660 899 34.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON NF1 ICD10 D36: Benign neoplasm of other and unspecified sites EFO_0002422 2.95e-33 2.95 -33 93.431 195.849 EUR HANCESTRO_0005 UK Biobank 450k GCST90079695 387660 899 21.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON PKD1 Treatment or Medication Code - prednisolone EFO_0007010 1e-16 10.0 -17 14.658 27.624 EUR HANCESTRO_0005 UK Biobank 450k GCST90078076 320758 2671 20.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ALB Albumin (30600) EFO_0004535 5.07e-171 5.07 -171 -2.107 -2.266 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 134.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON FCGRT Albumin (30600) EFO_0004535 8.809999999999999e-38 8.81 -38 -1.194 -1.41 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 74.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON FCGRT Albumin (30600) EFO_0004535 8.809999999999999e-38 8.81 -38 -1.194 -1.41 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 74.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ALB Albumin (30600) EFO_0004535 2.16e-56 2.16 -56 -1.073 -1.224 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 148.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON IGF1R Leg fat free mass left (23117) EFO_0004995 4.01e-19 4.01 -19 -0.13 -0.167 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 995.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PAPPA2 Leg fat free mass left (23117) EFO_0004995 1.14e-12 1.14 -12 -0.076 -0.104 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 1621.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PIEZO1 ICD10 I83.9: Asymptomatic varicose veins of lower extremities HP_0002619 1.35e-12 1.35 -12 1.521 1.708 EUR HANCESTRO_0005 UK Biobank 450k GCST90080065 387815 11767 349.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IRS1 Leg fat free mass left (23117) EFO_0004995 7.07e-17 7.07 -17 -0.318 -0.416 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 140.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Leg fat free mass left (23117) EFO_0004995 1.22e-13 1.22 -13 0.344 0.272 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 257.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IRS1 Leg fat free mass left (23117) EFO_0004995 7.07e-17 7.07 -17 -0.318 -0.416 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 140.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 ICD10 A41: Other sepsis HP_0100806 2.12e-11 2.12 -11 9.786 19.077 EUR HANCESTRO_0005 UK Biobank 450k GCST90079546 387463 5918 17.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON MC4R Leg fat free mass left (23117) EFO_0004995 1.74e-31 1.74 -31 0.232 0.198 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPTA1 High light scatter reticulocyte percentage (30290) EFO_0010700 4.5e-29 4.5 -29 0.714 0.608 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 299.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SRSF2 High light scatter reticulocyte percentage (30290) EFO_0010700 2.59e-39 2.59 -39 1.067 0.928 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 175.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPHK1 High light scatter reticulocyte percentage (30290) EFO_0010700 8.64e-40 8.64 -40 -0.132 -0.156 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 6363.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC4A1 High light scatter reticulocyte percentage (30290) EFO_0010700 9.28e-22 9.28 -22 1.2 0.996 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 81.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GCK Glucose (30740) EFO_0004468 2.08e-22 2.08 -22 1.43 1.191 EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 62.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON JAK2 Immature reticulocyte fraction (30280) EFO_0010700 2.97e-13 2.97 -13 0.19 0.15 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 2136.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GMPR Immature reticulocyte fraction (30280) EFO_0010700 3.21e-19 3.21 -19 0.172 0.141 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 3713.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IQGAP2 High light scatter reticulocyte percentage (30290) EFO_0010700 1.12e-19 1.12 -19 0.107 0.088 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 9493.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GMPR High light scatter reticulocyte percentage (30290) EFO_0010700 1.42e-36 1.42 -36 0.344 0.298 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1583.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON R3HDM4 High light scatter reticulocyte percentage (30290) EFO_0010700 4.99e-12 4.99 -12 0.618 0.481 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 181.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IQGAP2 High light scatter reticulocyte percentage (30290) EFO_0010700 3.87e-12 3.87 -12 0.223 0.174 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1400.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Immature reticulocyte fraction (30280) EFO_0010700 3.87e-16 3.87 -16 0.982 0.792 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 96.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK Glucose (30740) EFO_0004468 2.18e-15 2.18 -15 1.389 1.114 EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 47.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPTB ICD10 D73: Diseases of spleen EFO_0009002 2.3e-14 2.3 -14 48.833 132.537 EUR HANCESTRO_0005 UK Biobank 450k GCST90079718 387896 692 10.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CALR Immature reticulocyte fraction (30280) EFO_0010700 5.29e-13 5.29 -13 1.055 0.83 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 69.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC47A1 Creatinine (30700) EFO_0004518 1.6e-20 1.6 -20 0.164 0.135 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 2692.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 Creatinine (30700) EFO_0004518 3.1500000000000004e-36 3.15 -36 0.622 0.538 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 311.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PROS1 TAG VTE CC (RGC) EFO_0004286 1.83e-14 1.83 -14 4.56 6.722 EUR HANCESTRO_0005 UK Biobank 450k GCST90081530 231542 10941 53.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN ICD10 Z92.1: Personal history of long-term (current) use of anticoagulants (Z92.1) EFO_0000352 2.02e-13 2.02 -13 1.692 1.946 EUR HANCESTRO_0005 UK Biobank 450k GCST90081404 387930 15024 253.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD2 Creatinine (30700) EFO_0004518 6.36e-12 6.36 -12 0.651 0.506 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 105.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC34A1 Creatinine (30700) EFO_0004518 3.2e-15 3.2 -15 0.101 0.081 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 5424.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CLDN10 Creatinine (30700) EFO_0004518 4.68e-13 4.68 -13 0.689 0.542 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 101.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LRP2 Creatinine (30700) EFO_0004518 4.7400000000000006e-21 4.74 -21 -0.344 -0.434 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 270.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 4.0600000000000004e-32 4.06 -32 3.738 4.654 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 141.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MLH1 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 2.41e-21 2.41 -21 16.623 29.712 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 31.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON NF1 ICD10 D36.1: Benign neoplasm of peripheral nerves and autonomic nervous system EFO_0002422 1.49e-48 1.49 -48 82.269 148.451 EUR HANCESTRO_0005 UK Biobank 450k GCST90079694 387929 616 32.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON WNT1 Heel broadband ultrasound attenuation right (4120) EFO_0004514 5.51e-12 5.51 -12 -0.332 -0.464 EUR HANCESTRO_0005 UK Biobank 450k GCST90079155 166349 166349 167.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PALB2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.44e-11 1.44 -11 1.498 1.684 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 363.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 2.36e-21 2.36 -21 4.625 6.346 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 72.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SH2B3 Lymphocyte count (30120) EFO_0004587 2.37e-14 2.37 -14 0.199 0.158 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 2045.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RASA3 Lymphocyte count (30120) EFO_0004587 2.58e-14 2.58 -14 -0.33 -0.444 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 257.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CHD2 Lymphocyte count (30120) EFO_0004587 3.37e-13 3.37 -13 0.978 0.77 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 78.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON NPR2 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 1.27e-11 1.27 -11 -0.307 -0.431 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 35.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 2.85e-24 2.85 -24 -0.472 -0.584 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 43.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SIGIRR Lymphocyte count (30120) EFO_0004587 2.29e-13 2.29 -13 -0.132 -0.181 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 1447.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RASAL3 Lymphocyte count (30120) EFO_0004587 1.34e-12 1.34 -12 -0.068 -0.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 5065.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HNF1A OralDiabetes Med (RGC) EFO_0007010 6.15e-12 6.15 -12 7.884 14.201 EUR HANCESTRO_0005 UK Biobank 450k GCST90081503 320758 13132 22.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANKRD12 Lymphocyte count (30120) EFO_0004587 1.22e-11 1.22 -11 -0.255 -0.359 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 312.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANKRD12 Townsend deprivation index at recruitment (189) EFO_0009711 3.55e-14 3.55 -14 0.518 0.412 EUR HANCESTRO_0005 UK Biobank 450k GCST90077617 430494 430494 318.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SH2B3 Lymphocyte count (30120) EFO_0004587 6.03e-20 6.03 -20 0.172 0.141 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 3691.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RASA3 Lymphocyte count (30120) EFO_0004587 2.58e-14 2.58 -14 -0.33 -0.444 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 257.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON RASGRP2 Lymphocyte count (30120) EFO_0004587 1.76e-15 1.76 -15 0.237 0.19 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 2228.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 5.47e-12 5.47 -12 2.783 3.723 EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 84.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 3.95e-21 3.95 -21 0.174 0.25 EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 17.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GCK DD DM - Yes (2443) EFO_0000400 9.46e-30 9.46 -30 5.13 6.807 EUR HANCESTRO_0005 UK Biobank 450k GCST90078949 429739 22058 89.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 5.47e-12 5.47 -12 2.783 3.723 EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 84.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HNF1A DD DM - Yes (2443) EFO_0000400 3.72e-13 3.72 -13 6.853 11.518 EUR HANCESTRO_0005 UK Biobank 450k GCST90078949 429739 22058 28.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PCSK9 Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 1.85e-11 1.85 -11 0.467 0.583 EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 72.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MFSD2B Glycated haemoglobin HbA1c (30750) EFO_0004541 1.67e-13 1.67 -13 0.115 0.091 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 5699.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HK1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.14e-14 1.14 -14 -0.507 -0.68 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 101.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PTPRH Glycated haemoglobin HbA1c (30750) EFO_0004541 5.95e-19 5.95 -19 0.157 0.129 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 3669.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APEH Glycated haemoglobin HbA1c (30750) EFO_0004541 2.96e-15 2.96 -15 0.281 0.225 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 945.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GCK Glycated haemoglobin HbA1c (30750) EFO_0004541 1.75e-82 1.75 -82 0.883 0.802 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 442.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TMC8 Glycated haemoglobin HbA1c (30750) EFO_0004541 5.72e-15 5.72 -15 0.175 0.14 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 2405.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EPB41 Glycated haemoglobin HbA1c (30750) EFO_0004541 2.53e-34 2.53 -34 -0.838 -0.998 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 115.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC4A1 Glycated haemoglobin HbA1c (30750) EFO_0004541 3.14e-25 3.14 -25 -1.371 -1.69 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 29.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TG ICD10 E03: Other hypothyroidism EFO_0004705 1.39e-13 1.39 -13 2.007 2.413 EUR HANCESTRO_0005 UK Biobank 450k GCST90079722 383065 21010 157.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PIEZO1 Glycated haemoglobin HbA1c (30750) EFO_0004541 7.0900000000000005e-31 7.09 -31 -0.093 -0.112 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 8217.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC4A1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.76e-19 1.76 -19 -1.422 -1.817 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 19.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON SPTA1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.72e-47 1.72 -47 -0.575 -0.665 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 364.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ATP11C Glycated haemoglobin HbA1c (30750) EFO_0004541 6.14e-13 6.14 -13 -0.081 -0.111 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 2059.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON G6PC2 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.5899999999999998e-94 1.59 -94 -0.152 -0.168 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 11862.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HK1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.36e-13 1.36 -13 -0.144 -0.196 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 1126.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASXL1 Ever smoked - Yes (20160) EFO_0006527 5.94e-14 5.94 -14 1.822 2.131 EUR HANCESTRO_0005 UK Biobank 450k GCST90078324 429301 263214 660.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD1 ICD10 Q61: Cystic kidney disease EFO_0008615 3.08e-128 3.08 -128 260.894 410.258 EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 68.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON APC ICD10 K31.7: Polyp of stomach and duodenum MONDO_0008277 1.7e-15 1.7 -15 16.091 31.887 EUR HANCESTRO_0005 UK Biobank 450k GCST90080210 387782 6198 18.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IFT140 ICD10 Q61: Cystic kidney disease EFO_0008615 5.13e-14 5.13 -14 12.996 25.339 EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 17.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 I50: Heart failure EFO_0003144 8.42e-30 8.42 -30 2.575 3.032 EUR HANCESTRO_0005 UK Biobank 450k GCST90080023 387076 8159 206.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN ICD10 I50: Heart failure EFO_0003144 8.42e-30 8.42 -30 2.575 3.032 EUR HANCESTRO_0005 UK Biobank 450k GCST90080023 387076 8159 206.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD1 ICD10 Z94: Transplanted organ and tissue status EFO_0002571 1.13e-22 1.13 -22 3.322 4.224 EUR HANCESTRO_0005 UK Biobank 450k GCST90081418 387906 1305 98.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 ICD10 Z94: Transplanted organ and tissue status EFO_0002571 1.85e-52 1.85 -52 14.0 19.657 EUR HANCESTRO_0005 UK Biobank 450k GCST90081418 387906 1305 69.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC9A3R2 Systolic blood pressure automated reading (4080) EFO_0006335 2.03e-19 2.03 -19 -0.08 -0.102 EUR HANCESTRO_0005 UK Biobank 450k GCST90079146 408211 408211 6337.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MFRP SphericalEquivalent r (RGC) EFO_0004731 2.06e-11 2.06 -11 0.328 0.254 EUR HANCESTRO_0005 UK Biobank 450k GCST90081512 107475 107475 608.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR DD vascular heart problems - Angina (6150) EFO_0003913 3.68e-15 3.68 -15 2.591 3.285 EUR HANCESTRO_0005 UK Biobank 450k GCST90079443 129643 14103 113.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON JAK2 ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 3.7500000000000003e-26 3.75 -26 5.148 6.973 EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 67.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SCUBE3 Weight (23098) EFO_0004338 1.83e-11 1.83 -11 -0.111 -0.157 EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 1216.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON EGFL8 ICD10 L40.9: Psoriasis, unspecified EFO_0000676 5.39e-12 5.39 -12 2.633 3.467 EUR HANCESTRO_0005 UK Biobank 450k GCST90080348 386981 2364 69.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON POR Testosterone (30850) EFO_0004908 2.27e-18 2.27 -18 -0.045 -0.059 EUR HANCESTRO_0005 UK Biobank 450k GCST90079042 373826 373826 8005.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Forced vital capacity FVC Best measure (20151) EFO_0004312 1.63e-13 1.63 -13 0.129 0.102 EUR HANCESTRO_0005 UK Biobank 450k GCST90078317 322002 322002 2310.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON FLG ChildhoodAsthmaCases vs AllergicDiseaseControls (RGC) MONDO_0005405 1.64e-12 1.64 -12 1.514 1.699 EUR HANCESTRO_0005 UK Biobank 450k GCST90081473 297425 16952 373.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Forced vital capacity FVC Best measure (20151) EFO_0004312 8.7e-15 8.7 -15 -0.086 -0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90078317 322002 322002 2001.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON OCA2 Use of sun uv protection - Sometimes (2267) EFO_0010729 6.42e-23 6.42 -23 0.812 0.846 EUR HANCESTRO_0005 UK Biobank 450k GCST90078880 430409 150448 3314.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Impedance of leg left (23108) HP_0000924 1.19e-11 1.19 -11 0.098 0.076 EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 5849.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Impedance of leg left (23108) HP_0000924 8.12e-15 8.12 -15 -0.349 -0.467 EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 197.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADAMTS17 Impedance of leg left (23108) HP_0000924 3.15e-13 3.15 -13 -0.071 -0.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 4065.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Non cancer illness code self reported - atrial fibrillation EFO_0000275 1.17e-19 1.17 -19 3.466 4.534 EUR HANCESTRO_0005 UK Biobank 450k GCST90077881 331754 3921 81.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LRP5 Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 9.79e-14 9.79 -14 -0.443 -0.601 EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 120.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SCUBE3 Arm fat free mass right (23121) EFO_0004995 1.7e-13 1.7 -13 -0.067 -0.091 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 2062.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Arm fat free mass right (23121) EFO_0004995 2.4e-13 2.4 -13 0.416 0.328 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 157.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGF1R Arm fat free mass right (23121) EFO_0004995 4.32e-16 4.32 -16 -0.254 -0.335 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 185.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON CPXM1 Corneal resistance factor right (5257) EFO_0010067 1.15e-11 1.15 -11 0.146 0.114 EUR HANCESTRO_0005 UK Biobank 450k GCST90079336 105888 105888 3232.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Arm fat free mass right (23121) EFO_0004995 4.02e-12 4.02 -12 0.355 0.277 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 197.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Arm fat free mass right (23121) EFO_0004995 2.4e-13 2.4 -13 0.416 0.328 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 157.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IHH Standing height (50) EFO_0004339 1.27e-13 1.27 -13 -0.917 -1.247 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 12.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON IGFALS Standing height (50) EFO_0004339 1.41e-12 1.41 -12 -0.048 -0.067 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 3747.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGF2BP2 Standing height (50) EFO_0004339 3.12e-15 3.12 -15 -0.209 -0.278 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 271.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ADAMTS17 Standing height (50) EFO_0004339 7.7e-41 7.7 -41 -0.332 -0.389 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 399.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GRAMD2 Standing height (50) EFO_0004339 5.61e-12 5.61 -12 0.103 0.08 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2489.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IHH Standing height (50) EFO_0004339 4.6e-31 4.6 -31 -0.218 -0.263 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 660.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Standing height (50) EFO_0004339 5.6200000000000006e-21 5.62 -21 0.5 0.414 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 172.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON NPR3 Standing height (50) EFO_0004339 1.13e-15 1.13 -15 0.239 0.192 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 587.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SCUBE3 Standing height (50) EFO_0004339 6.22e-30 6.22 -30 -0.12 -0.145 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2094.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON COL27A1 Standing height (50) EFO_0004339 1.28e-12 1.28 -12 -0.22 -0.305 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 182.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Standing height (50) EFO_0004339 1.0699999999999999e-81 1.07 -81 -1.245 -1.387 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 64.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SERPINH1 Standing height (50) EFO_0004339 7.94e-18 7.94 -18 -0.455 -0.589 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 71.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MIP Non cancer illness code self reported - cataract MONDO_0005129 7.01e-13 7.01 -13 5.992 9.769 EUR HANCESTRO_0005 UK Biobank 450k GCST90077756 331754 8629 29.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NPR2 Standing height (50) EFO_0004339 3.46e-33 3.46 -33 -0.57 -0.681 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 104.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MIP Non cancer illness code self reported - cataract MONDO_0005129 7.01e-13 7.01 -13 5.992 9.769 EUR HANCESTRO_0005 UK Biobank 450k GCST90077756 331754 8629 29.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PIEZO1 Standing height (50) EFO_0004339 4.1700000000000006e-21 4.17 -21 -0.108 -0.136 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1587.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SHOX Standing height (50) EFO_0004339 3.24e-23 3.24 -23 -0.878 -1.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 27.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IHH Standing height (50) EFO_0004339 1.27e-13 1.27 -13 -0.917 -1.247 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 12.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MIP Non cancer illness code self reported - cataract MONDO_0005129 1.84e-12 1.84 -12 13.901 28.906 EUR HANCESTRO_0005 UK Biobank 450k GCST90077756 331754 8629 16.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Standing height (50) EFO_0004339 3.57e-29 3.57 -29 0.47 0.4 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 263.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADAMTS10 Standing height (50) EFO_0004339 3.32e-14 3.32 -14 -0.328 -0.442 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 98.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SHOX Standing height (50) EFO_0004339 3.24e-23 3.24 -23 -0.878 -1.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 27.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON FLNB Standing height (50) EFO_0004339 4.4e-12 4.4 -12 -0.132 -0.184 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 476.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADAMTS17 Standing height (50) EFO_0004339 2.73e-25 2.73 -25 -0.182 -0.225 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 721.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON THBS3 Standing height (50) EFO_0004339 9.69e-17 9.69 -17 -0.078 -0.102 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2272.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HTRA1 Standing height (50) EFO_0004339 2.96e-13 2.96 -13 -0.144 -0.197 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 457.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CNNM3 Standing height (50) EFO_0004339 7.39e-12 7.39 -12 0.17 0.132 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 917.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NRK Standing height (50) EFO_0004339 6.07e-12 6.07 -12 0.337 0.262 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 148.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IRS1 Standing height (50) EFO_0004339 7.94e-25 7.94 -25 -0.403 -0.498 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 145.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PIEZO1 Standing height (50) EFO_0004339 4.13e-33 4.13 -33 -0.038 -0.045 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 24971.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON COL27A1 Standing height (50) EFO_0004339 8.21e-13 8.21 -13 -0.24 -0.331 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 157.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON CNPY2 Standing height (50) EFO_0004339 5.41e-14 5.41 -14 -0.251 -0.339 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 166.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON INSC Speed of sound through heel right (4122) EFO_0005654 2.57e-12 2.57 -12 0.113 0.088 EUR HANCESTRO_0005 UK Biobank 450k GCST90079156 166358 166358 5126.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GCK Metformin Med (RGC) EFO_0007010 1.71e-11 1.71 -11 13.939 30.025 EUR HANCESTRO_0005 UK Biobank 450k GCST90081499 320758 12065 15.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK Metformin Med (RGC) EFO_0007010 5.16e-13 5.16 -13 4.223 6.243 EUR HANCESTRO_0005 UK Biobank 450k GCST90081499 320758 12065 42.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON FLCN Non cancer illness code self reported - spontaneous pneumothorax recurrent pneumothorax HP_0002108 6.59e-13 6.59 -13 18.584 41.231 EUR HANCESTRO_0005 UK Biobank 450k GCST90077685 331754 1058 13.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON IL33 AsthmaCases vs AllergicDiseaseControls (RGC) MONDO_0004979 1.47e-15 1.47 -15 0.674 0.742 EUR HANCESTRO_0005 UK Biobank 450k GCST90081459 328314 47628 428.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 3mm weak meridian right (5099) EFO_0004731 3.51e-22 3.51 -22 0.678 0.564 EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 237.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN ICD10 I51: Complications and ill-defined descriptions of heart disease EFO_0003777 2.08e-11 2.08 -11 1.934 2.346 EUR HANCESTRO_0005 UK Biobank 450k GCST90080027 385880 6712 133.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC45A2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 4.42e-79 4.42 -79 0.444 0.483 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 747.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC1R Hair colour natural before greying - Dark brown (1747) EFO_0007822 7.54e-173 7.54 -173 0.412 0.438 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 1306.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC12A9 Hair colour natural before greying - Dark brown (1747) EFO_0007822 8.97e-20 8.97 -20 0.591 0.662 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 471.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC12A9 Hair colour natural before greying - Dark brown (1747) EFO_0007822 6.779999999999999e-23 6.78 -23 0.612 0.675 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 641.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Monocyte percentage (30190) EFO_0007989 9.81e-31 9.81 -31 0.287 0.246 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 1791.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Monocyte percentage (30190) EFO_0007989 8.010000000000001e-31 8.01 -31 0.289 0.247 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 1777.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CCR2 Monocyte percentage (30190) EFO_0007989 4.68e-19 4.68 -19 -0.191 -0.245 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 1084.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MPO Monocyte percentage (30190) EFO_0007989 8.78e-44 8.78 -44 -0.097 -0.112 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 12702.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Monocyte percentage (30190) EFO_0007989 9.81e-31 9.81 -31 0.287 0.246 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 1791.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Monocyte percentage (30190) EFO_0007989 9.81e-31 9.81 -31 0.287 0.246 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 1791.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SPTA1 Direct bilirubin (30660) EFO_0004570 4.1200000000000004e-27 4.12 -27 0.567 0.48 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 333.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON UGT1A6 Direct bilirubin (30660) EFO_0004570 9.88e-12 9.88 -12 0.511 0.397 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 245.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A5 Direct bilirubin (30660) EFO_0004570 5.99e-18 5.99 -18 0.251 0.205 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1488.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCC2 Direct bilirubin (30660) EFO_0004570 5.81e-16 5.81 -16 0.238 0.192 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1175.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A7 Direct bilirubin (30660) EFO_0004570 8.06e-27 8.06 -27 0.324 0.274 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1276.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RP11-545J16.1 Direct bilirubin (30660) EFO_0004570 2.83e-19 2.83 -19 0.219 0.18 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1683.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLCO1B1 Direct bilirubin (30660) EFO_0004570 9.19e-33 9.19 -33 0.398 0.341 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 823.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB Direct bilirubin (30660) EFO_0004570 2.8e-14 2.8 -14 0.188 0.149 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 2167.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON RP11-545J16.1 Direct bilirubin (30660) EFO_0004570 1.11e-75 1.11 -75 0.296 0.267 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 3212.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ABCC3 Direct bilirubin (30660) EFO_0004570 1.62e-12 1.62 -12 -0.039 -0.053 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 11964.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 Direct bilirubin (30660) EFO_0004570 2.23e-12 2.23 -12 0.226 0.176 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1047.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB Direct bilirubin (30660) EFO_0004570 2.07e-44 2.07 -44 0.571 0.501 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 649.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APOB Direct bilirubin (30660) EFO_0004570 9.74e-22 9.74 -22 0.613 0.509 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 295.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ATP11C Direct bilirubin (30660) EFO_0004570 7.99e-12 7.99 -12 0.261 0.203 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 479.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOB Direct bilirubin (30660) EFO_0004570 2.07e-44 2.07 -44 0.571 0.501 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 649.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A9 Direct bilirubin (30660) EFO_0004570 3.24e-16 3.24 -16 0.492 0.397 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 352.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC4A1 Direct bilirubin (30660) EFO_0004570 2.8e-27 2.8 -27 2.263 1.916 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 21.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON MC4R Waist circumference (48) EFO_0004342 3.3e-13 3.3 -13 0.545 0.429 EUR HANCESTRO_0005 UK Biobank 450k GCST90079228 430261 430261 202.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 Self Report - breast cancer (20001) EFO_0000305 4.91e-14 4.91 -14 3.691 5.184 EUR HANCESTRO_0005 UK Biobank 450k GCST90077626 39614 10070 110.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CALR ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 2.97e-28 2.97 -28 18.016 30.125 EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 32.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 Self Report - breast cancer (20001) EFO_0000305 5.05e-14 5.05 -14 4.909 7.427 EUR HANCESTRO_0005 UK Biobank 450k GCST90077626 39614 10070 81.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON JAK2 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 4.19e-149 4.19 -149 27.539 35.357 EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 144.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APC ICD10 D13: Benign neoplasm of other and ill-defined parts of digestive system EFO_0002422 1.33e-14 1.33 -14 14.392 28.366 EUR HANCESTRO_0005 UK Biobank 450k GCST90079664 387696 1532 17.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ACAN Arm predicted mass left (23126) EFO_0004302 8.89e-16 8.89 -16 -0.524 -0.693 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 44.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ZFAT Arm predicted mass left (23126) EFO_0004302 1.01e-34 1.01 -34 0.149 0.129 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 3011.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Arm predicted mass left (23126) EFO_0004302 2.77e-22 2.77 -22 0.193 0.16 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R Arm predicted mass left (23126) EFO_0004302 1.51e-11 1.51 -11 -0.071 -0.1 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 1485.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Arm predicted mass left (23126) EFO_0004302 1.54e-12 1.54 -12 0.368 0.288 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 197.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PTPN6 Platelet distribution width (30110) EFO_0007984 2.28e-14 2.28 -14 0.215 0.171 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1614.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CHEK2 Platelet distribution width (30110) EFO_0007984 1.08e-11 1.08 -11 0.149 0.116 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 2755.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLFN14 Platelet distribution width (30110) EFO_0007984 1.84e-14 1.84 -14 -0.254 -0.341 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 406.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GP1BA Platelet distribution width (30110) EFO_0007984 2.32e-44 2.32 -44 0.476 0.418 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 899.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GP1BB Platelet distribution width (30110) EFO_0007984 2.5300000000000003e-21 2.53 -21 1.42 1.177 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 52.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 Platelet distribution width (30110) EFO_0007984 1.6e-21 1.6 -21 0.168 0.14 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 3857.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GP1BB Platelet distribution width (30110) EFO_0007984 2.5300000000000003e-21 2.53 -21 1.42 1.177 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 52.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TADA1 Platelet distribution width (30110) EFO_0007984 5.14e-12 5.14 -12 0.435 0.339 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 339.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Platelet distribution width (30110) EFO_0007984 4.3700000000000004e-32 4.37 -32 0.291 0.249 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1794.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CRLF3 Platelet distribution width (30110) EFO_0007984 3.83e-12 3.83 -12 -0.146 -0.203 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 939.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CALR Platelet distribution width (30110) EFO_0007984 1.68e-11 1.68 -11 0.924 0.716 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 71.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TUBB1 Platelet distribution width (30110) EFO_0007984 2.2300000000000002e-307 2.23 -307 0.861 0.828 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 2825.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Platelet distribution width (30110) EFO_0007984 1.7499999999999998e-30 1.75 -30 0.309 0.264 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1517.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ASXL1 Platelet distribution width (30110) EFO_0007984 1.17e-13 1.17 -13 0.175 0.139 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 2362.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GP1BA Platelet distribution width (30110) EFO_0007984 7.36e-44 7.36 -44 0.473 0.415 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 901.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CHEK2 Mean corpuscular haemoglobin (30050) EFO_0004527 2.39e-21 2.39 -21 -0.084 -0.106 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 6989.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADCK3 Mean corpuscular haemoglobin (30050) EFO_0004527 9.07e-16 9.07 -16 -0.119 -0.158 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 2036.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PARN Mean corpuscular haemoglobin (30050) EFO_0004527 8.73e-14 8.73 -14 0.211 0.167 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1553.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TERT Mean corpuscular haemoglobin (30050) EFO_0004527 2.58e-17 2.58 -17 0.58 0.471 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 250.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON KLF1 Mean corpuscular haemoglobin (30050) EFO_0004527 6.54e-96 6.54 -96 -1.053 -1.162 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 250.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON RTEL1 Mean corpuscular haemoglobin (30050) EFO_0004527 4.31e-14 4.31 -14 0.454 0.361 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 339.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ABCB10 Mean corpuscular haemoglobin (30050) EFO_0004527 3.22e-14 3.22 -14 -0.167 -0.225 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 892.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TFRC Mean corpuscular haemoglobin (30050) EFO_0004527 3.17e-15 3.17 -15 -0.163 -0.216 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1038.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RTEL1 Mean corpuscular haemoglobin (30050) EFO_0004527 8.71e-18 8.71 -18 0.222 0.181 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1760.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON KLF1 Mean corpuscular haemoglobin (30050) EFO_0004527 2.62e-86 2.62 -86 -0.841 -0.934 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 348.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON E2F4 Mean corpuscular haemoglobin (30050) EFO_0004527 1.9e-21 1.9 -21 2.068 1.714 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 24.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON KLF1 Mean corpuscular haemoglobin (30050) EFO_0004527 6.55e-27 6.55 -27 -0.553 -0.677 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 197.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON AHSP Mean corpuscular haemoglobin (30050) EFO_0004527 1.08e-12 1.08 -12 -0.217 -0.299 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 442.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 2.94e-13 2.94 -13 -1.536 -2.1 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 14.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TMPRSS6 Mean corpuscular haemoglobin (30050) EFO_0004527 6.78e-67 6.78 -67 -0.319 -0.36 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1822.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON E2F4 Mean corpuscular haemoglobin (30050) EFO_0004527 4.04e-13 4.04 -13 0.79 0.622 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 106.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON CHEK2 Mean corpuscular haemoglobin (30050) EFO_0004527 1.71e-16 1.71 -16 -0.106 -0.139 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 2756.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON OR51V1 Mean corpuscular haemoglobin (30050) EFO_0004527 3.91e-18 3.91 -18 -0.791 -1.021 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 75.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBQ1 Mean corpuscular haemoglobin (30050) EFO_0004527 6.72e-25 6.72 -25 -0.602 -0.744 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 233.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PTPRJ Trunk fat free mass (23129) EFO_0004995 1.57e-11 1.57 -11 -0.152 -0.214 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 316.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R Trunk fat free mass (23129) EFO_0004995 2.97e-19 2.97 -19 -0.166 -0.212 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 568.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACAN Trunk fat free mass (23129) EFO_0004995 8.93e-23 8.93 -23 -0.558 -0.698 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 63.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LRP5 Speed of sound through heel (3146) EFO_0005654 1.68e-13 1.68 -13 -0.442 -0.602 EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 120.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PRPH2 Eye problems disorders - Macular degeneration (6148) EFO_0009606 3.64e-18 3.64 -18 18.46 35.631 EUR HANCESTRO_0005 UK Biobank 450k GCST90079434 37798 4185 27.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GHRH Trunk fat free mass (23129) EFO_0004995 1.9e-15 1.9 -15 -0.282 -0.375 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 143.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LRP5 Speed of sound through heel (3146) EFO_0005654 1.68e-13 1.68 -13 -0.442 -0.602 EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 120.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Trunk fat free mass (23129) EFO_0004995 1.56e-16 1.56 -16 0.36 0.291 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 257.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Non cancer illness code self reported - atrial fibrillation/ICD10 I48 EFO_0000275 1.13e-12 1.13 -12 4.527 6.862 EUR HANCESTRO_0005 UK Biobank 450k GCST90077882 329052 3763 36.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ZFAT Trunk fat free mass (23129) EFO_0004995 3.76e-13 3.76 -13 0.844 0.665 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 38.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON LCORL Arm predicted mass right (23122) EFO_0004302 4.23e-13 4.23 -13 0.411 0.323 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 157.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Arm predicted mass right (23122) EFO_0004302 3.75e-20 3.75 -20 -0.053 -0.068 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 5844.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADAMTSL4 Forced expiratory volume in 1 second FEV1 (3063) EFO_0004314 2.72e-12 2.72 -12 -0.076 -0.106 EUR HANCESTRO_0005 UK Biobank 450k GCST90079017 395451 395451 2134.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS17 Forced expiratory volume in 1 second FEV1 (3063) EFO_0004314 1.91e-11 1.91 -11 -0.054 -0.076 EUR HANCESTRO_0005 UK Biobank 450k GCST90079017 395451 395451 3829.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Arm predicted mass right (23122) EFO_0004302 9.72e-13 9.72 -13 0.362 0.284 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 197.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PAPPA2 Arm predicted mass right (23122) EFO_0004302 1.25e-13 1.25 -13 -0.068 -0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 2007.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 Mothers age at death (3526) EFO_0007796 3.18e-20 3.18 -20 -0.32 -0.406 EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 469.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Arm predicted mass right (23122) EFO_0004302 6.84e-19 6.84 -19 -0.36 -0.462 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 115.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 Mothers age at death (3526) EFO_0007796 6.03e-12 6.03 -12 -0.178 -0.249 EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 699.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 Mothers age at death (3526) EFO_0007796 2.76e-19 2.76 -19 -0.231 -0.295 EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 846.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADAMTS17 Forced expiratory volume in 1 second FEV1 (3063) EFO_0004314 1.91e-11 1.91 -11 -0.054 -0.076 EUR HANCESTRO_0005 UK Biobank 450k GCST90079017 395451 395451 3829.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGFALS Arm predicted mass right (23122) EFO_0004302 4.93e-13 4.93 -13 -0.067 -0.092 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 1957.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 Mothers age at death (3526) EFO_0007796 2.28e-18 2.28 -18 -0.208 -0.269 EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 970.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 D13.1: Benign neoplasm of stomach MONDO_0021449 4.6200000000000004e-27 4.62 -27 91.43 207.911 EUR HANCESTRO_0005 UK Biobank 450k GCST90079663 387930 1028 17.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB Cholesterol (30690) EFO_0004574 5.690000000000001e-163 5.69 -163 -1.296 -1.396 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 321.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ZNF229 Cholesterol (30690) EFO_0004574 9.47e-17 9.47 -17 -0.082 -0.107 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 5203.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ABCA1 Cholesterol (30690) EFO_0004574 8.79e-15 8.79 -15 -0.202 -0.27 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 695.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ALB Cholesterol (30690) EFO_0004574 1.39e-16 1.39 -16 0.772 0.624 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 147.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SCARB1 Cholesterol (30690) EFO_0004574 2.25e-22 2.25 -22 0.225 0.187 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 2271.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANGPTL3 Cholesterol (30690) EFO_0004574 1.02e-85 1.02 -85 -0.401 -0.445 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 1647.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PCSK9 Cholesterol (30690) EFO_0004574 4.91e-12 4.91 -12 -0.544 -0.76 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 70.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON RRBP1 Cholesterol (30690) EFO_0004574 5.64e-15 5.64 -15 -0.36 -0.481 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 221.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ABCG5 Cholesterol (30690) EFO_0004574 1.59e-11 1.59 -11 0.36 0.279 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 494.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APOB Cholesterol (30690) EFO_0004574 2.2300000000000002e-307 2.23 -307 -1.368 -1.436 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 700.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GIGYF1 Cholesterol (30690) EFO_0004574 1.55e-19 1.55 -19 -0.522 -0.667 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 154.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SH2B3 Cholesterol (30690) EFO_0004574 1.94e-14 1.94 -14 -0.087 -0.117 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 3611.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 Cholesterol (30690) EFO_0004574 2.64e-25 2.64 -25 -0.533 -0.657 AFR HANCESTRO_0010 UK Biobank 450k 8543 8543 226.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PCSK9 Cholesterol (30690) EFO_0004574 9.81e-128 9.81 -128 -0.798 -0.869 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 649.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCG5 Cholesterol (30690) EFO_0004574 6.62e-15 6.62 -15 0.139 0.111 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 4164.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 Cholesterol (30690) EFO_0004574 2.64e-25 2.64 -25 -0.533 -0.657 AFR HANCESTRO_0010 UK Biobank 450k 8543 8543 226.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SRSF2 Platelet count (30080) EFO_0004309 4.43e-18 4.43 -18 -0.434 -0.56 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 182.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 2.4099999999999997e-61 2.41 -61 -1.143 -1.297 SAS HANCESTRO_0006 UK Biobank 450k 9830 9830 139.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PTPRH Platelet count (30080) EFO_0004309 9.48e-18 9.48 -18 -0.145 -0.188 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1583.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 7.96e-24 7.96 -24 -1.078 -1.339 SAS HANCESTRO_0006 UK Biobank 450k 9830 9830 44.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 1.52e-19 1.52 -19 -1.204 -1.537 EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 28.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 5.529999999999999e-42 5.53 -42 -1.045 -1.221 SAS HANCESTRO_0006 UK Biobank 450k 9830 9830 104.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GP1BB Platelet count (30080) EFO_0004309 5.5e-23 5.5 -23 -1.376 -1.717 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 25.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ZFAT Platelet count (30080) EFO_0004309 1.45e-11 1.45 -11 -0.076 -0.108 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 2991.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GP1BA Platelet count (30080) EFO_0004309 2.75e-30 2.75 -30 -0.866 -1.045 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 91.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LY75-CD302 Platelet count (30080) EFO_0004309 2.72e-15 2.72 -15 0.146 0.117 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 3586.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SIX6 SphericalEquivalent l (RGC) EFO_0004731 6.39e-22 6.39 -22 -0.185 -0.233 EUR HANCESTRO_0005 UK Biobank 450k GCST90081510 107117 107117 1496.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 6.29e-14 6.29 -14 -1.466 -1.984 EAS HANCESTRO_0009 UK Biobank 450k 2108 2108 13.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CALR Platelet count (30080) EFO_0004309 2.46e-84 2.46 -84 2.217 2.014 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 71.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON RUNX1 Platelet count (30080) EFO_0004309 1.11e-13 1.11 -13 -0.931 -1.265 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 26.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON THPO Platelet count (30080) EFO_0004309 4.56e-12 4.56 -12 -0.22 -0.307 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 390.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON EXOC3L4 Platelet count (30080) EFO_0004309 1.15e-16 1.15 -16 0.211 0.171 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1788.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 5.9299999999999996e-89 5.93 -89 -1.451 -1.609 EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 125.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON DNMT3A Platelet count (30080) EFO_0004309 1.22e-11 1.22 -11 0.108 0.084 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 5082.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PTPRH Platelet count (30080) EFO_0004309 1.98e-16 1.98 -16 -0.142 -0.186 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1477.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CALR Platelet count (30080) EFO_0004309 2.46e-84 2.46 -84 2.217 2.014 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 71.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SH2B3 Platelet count (30080) EFO_0004309 6.2e-12 6.2 -12 0.387 0.301 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 400.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON RUNX1 Platelet count (30080) EFO_0004309 1.11e-13 1.11 -13 -0.931 -1.265 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 26.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TUBB1 Platelet count (30080) EFO_0004309 1.4800000000000001e-105 1.48 -105 -0.881 -0.968 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 382.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 2.4099999999999997e-61 2.41 -61 -1.143 -1.297 SAS HANCESTRO_0006 UK Biobank 450k 9830 9830 139.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 ICD10 D70: Neutropenia MONDO_0001475 7.72e-16 7.72 -16 3.46 4.679 EUR HANCESTRO_0005 UK Biobank 450k GCST90079716 387075 4407 63.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PKD1 ICD10 Z99: Dependence on enabling machines and devices, not elsewhere classified EFO_0002571 5.390000000000001e-29 5.39 -29 16.379 26.745 EUR HANCESTRO_0005 UK Biobank 450k GCST90081445 385473 3699 35.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GJB2 Hearing difficulty problems - Yes (2247) EFO_0007616 2.55e-13 2.55 -13 1.197 1.256 EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 2612.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 K91: Intraoperative and postprocedural complications and disorders of digestive system, not elsewhere classified EFO_0000405 1.1e-15 1.1 -15 31.771 74.012 EUR HANCESTRO_0005 UK Biobank 450k GCST90080318 387834 2050 13.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON KLHDC7B Hearing difficulty problems background noise - Yes (2257) EFO_0007616 2.97e-18 2.97 -18 1.658 1.857 EUR HANCESTRO_0005 UK Biobank 450k GCST90078878 422872 167296 644.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MYO6 Hearing difficulty problems - Yes (2247) EFO_0007616 2.07e-16 2.07 -16 1.891 2.202 EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 313.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Hand grip strength left (46) EFO_0006941 5.49e-17 5.49 -17 -0.065 -0.084 EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 4482.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR ICD10 E78: Disorders of lipoprotein metabolism and other lipidemias Orphanet_79062 1.12e-25 1.12 -25 11.093 17.402 EUR HANCESTRO_0005 UK Biobank 450k GCST90079768 372199 51365 55.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Hand grip strength left (46) EFO_0006941 5.49e-17 5.49 -17 -0.065 -0.084 EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 4482.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MLH1 ICD10 C18.9: Malignant neoplasm of colon, unspecified EFO_0004288 3.4e-12 3.4 -12 56.153 174.581 EUR HANCESTRO_0005 UK Biobank 450k GCST90079580 387789 1360 8.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LDLR ICD10 E78: Disorders of lipoprotein metabolism and other lipidemias Orphanet_79062 1.2500000000000001e-70 1.25 -70 3.023 3.416 EUR HANCESTRO_0005 UK Biobank 450k GCST90079768 372199 51365 490.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON KDM5B Hand grip strength left (46) EFO_0006941 2.21e-15 2.21 -15 -0.25 -0.332 EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 256.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON FCGRT Total protein (30860) EFO_0004536 1.1500000000000002e-27 1.15 -27 -1.373 -1.674 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 38.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ALB Total protein (30860) EFO_0004536 8.28e-38 8.28 -38 -0.889 -1.049 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 134.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TP53 ICD10 C91: Lymphoid leukemia EFO_0004289 4.42e-15 4.42 -15 23.343 51.298 EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 14.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MYBPC3 ICD10 I42: Cardiomyopathy EFO_0000318 4.31e-18 4.31 -18 41.169 95.4 EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 14.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON CHD2 ICD10 C91: Lymphoid leukemia EFO_0004289 1.08e-11 1.08 -11 10.317 20.224 EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 16.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 I42: Cardiomyopathy EFO_0000318 3.54e-56 3.54 -56 8.954 11.754 EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 98.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN ICD10 I42: Cardiomyopathy EFO_0000318 1.61e-48 1.61 -48 5.313 6.645 EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 128.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NOTCH1 ICD10 C91: Lymphoid leukemia EFO_0004289 1.4900000000000001e-33 1.49 -33 258.404 636.738 EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 18.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CHD2 ICD10 C91: Lymphoid leukemia EFO_0004289 1.08e-11 1.08 -11 10.317 20.224 EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 16.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MYBPC3 ICD10 I42: Cardiomyopathy EFO_0000318 3.56e-13 3.56 -13 78.655 255.106 EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 8.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON GCK ICD10 E13.6: Other specified diabetes mellitus with other specified complications EFO_0000400 1.16e-11 1.16 -11 5.178 8.326 EUR HANCESTRO_0005 UK Biobank 450k GCST90079745 386731 8624 29.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PRSS56 3mm weak meridian left (5096) EFO_0004731 7.74e-12 7.74 -12 0.578 0.449 EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 187.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 C79.5: Secondary malignant neoplasm of bone and bone marrow EFO_0009812 2.94e-16 2.94 -16 3.23 4.278 EUR HANCESTRO_0005 UK Biobank 450k GCST90079627 387930 3104 71.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD1 Treatment or Medication Code - doxazosin EFO_0007010 1.22e-12 1.22 -12 7.583 13.263 EUR HANCESTRO_0005 UK Biobank 450k GCST90078093 320758 5111 23.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 D12.6: Benign neoplasm of colon, unspecified EFO_0002422 3.66e-30 3.66 -30 47.964 93.242 EUR HANCESTRO_0005 UK Biobank 450k GCST90079659 387930 2672 24.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GFI1B Mean platelet thrombocyte volume (30100) EFO_0004584 4.08e-46 4.08 -46 0.564 0.495 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 586.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TYRP1 Hair colour natural before greying - Blonde (1747) EFO_0007822 8.36e-26 8.36 -26 4.641 6.18 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 100.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC12A9 Hair colour natural before greying - Blonde (1747) EFO_0007822 8.92e-41 8.92 -41 2.261 2.548 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 454.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Weight (21002) EFO_0004338 2.4800000000000002e-29 2.48 -29 0.307 0.262 EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 1223.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC45A2 Hair colour natural before greying - Blonde (1747) EFO_0007822 4.25e-18 4.25 -18 3.447 4.559 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 92.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TYRP1 Hair colour natural before greying - Blonde (1747) EFO_0007822 2.9099999999999998e-30 2.91 -30 4.333 5.572 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 126.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IRS1 Weight (21002) EFO_0004338 1.65e-11 1.65 -11 -0.324 -0.456 EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 145.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ITGA2B Mean platelet thrombocyte volume (30100) EFO_0004584 2.73e-13 2.73 -13 0.4 0.315 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 385.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TUBB1 Mean platelet thrombocyte volume (30100) EFO_0004584 1.4e-109 1.4 -109 0.385 0.354 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 2827.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GP1BB Mean platelet thrombocyte volume (30100) EFO_0004584 1.67e-58 1.67 -58 2.104 1.876 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 52.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ITGA2B Mean platelet thrombocyte volume (30100) EFO_0004584 1.29e-14 1.29 -14 0.472 0.376 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 300.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON KIAA1109 Mean platelet thrombocyte volume (30100) EFO_0004584 4.3600000000000006e-21 4.36 -21 -0.226 -0.285 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 773.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ITGA2B Mean platelet thrombocyte volume (30100) EFO_0004584 2.73e-13 2.73 -13 0.4 0.315 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 385.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON RAB32 Hair colour natural before greying - Blonde (1747) EFO_0007822 1.07e-17 1.07 -17 2.503 3.088 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 150.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SVEP1 Mean platelet thrombocyte volume (30100) EFO_0004584 7.21e-14 7.21 -14 -0.263 -0.356 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 312.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Weight (21002) EFO_0004338 2.17e-16 2.17 -16 0.582 0.47 EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 202.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GP1BB Mean platelet thrombocyte volume (30100) EFO_0004584 1.67e-58 1.67 -58 2.104 1.876 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 52.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MEN1 ICD10 E21.3: Hyperparathyroidism, unspecified EFO_0008506 4.85e-12 4.85 -12 298.59 1503.59 EUR HANCESTRO_0005 UK Biobank 450k GCST90079752 387820 512 5.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MLXIP Mean platelet thrombocyte volume (30100) EFO_0004584 3.58e-19 3.58 -19 0.125 0.102 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 5780.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GP1BA Mean platelet thrombocyte volume (30100) EFO_0004584 4.84e-73 4.84 -73 1.27 1.146 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 178.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ELOVL7 Mean platelet thrombocyte volume (30100) EFO_0004584 1.33e-13 1.33 -13 0.299 0.236 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 705.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PEAR1 Mean platelet thrombocyte volume (30100) EFO_0004584 8e-14 8.0 -14 -0.113 -0.153 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1748.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TMCC2 Mean platelet thrombocyte volume (30100) EFO_0004584 9.55e-13 9.55 -13 -0.134 -0.185 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1090.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ARHGAP10 Mean platelet thrombocyte volume (30100) EFO_0004584 3.5e-27 3.5 -27 0.2 0.169 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 2893.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MYO9B Mean platelet thrombocyte volume (30100) EFO_0004584 2.64e-12 2.64 -12 0.289 0.226 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 684.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC45A2 Hair colour natural before greying - Blonde (1747) EFO_0007822 1.23e-87 1.23 -87 3.68 4.186 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 456.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CKAP2L Mean platelet thrombocyte volume (30100) EFO_0004584 1.22e-11 1.22 -11 -0.363 -0.511 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 126.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON IQGAP2 Mean platelet thrombocyte volume (30100) EFO_0004584 7.56e-21 7.56 -21 0.312 0.258 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 945.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MYO9B Mean platelet thrombocyte volume (30100) EFO_0004584 1.68e-13 1.68 -13 0.106 0.084 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 5589.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EXOC3L4 Mean platelet thrombocyte volume (30100) EFO_0004584 2.48e-36 2.48 -36 -0.344 -0.408 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 676.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON OCA2 Hair colour natural before greying - Blonde (1747) EFO_0007822 4.69e-214 4.69 -214 3.95 4.306 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 1017.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON OR6F1 Mean platelet thrombocyte volume (30100) EFO_0004584 3.06e-16 3.06 -16 -0.086 -0.114 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 3791.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GP1BA Mean platelet thrombocyte volume (30100) EFO_0004584 4.63e-114 4.63 -114 0.694 0.639 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 902.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK T2D New Strict CC (RGC) MONDO_0005148 5.08e-20 5.08 -20 34.58 73.791 EUR HANCESTRO_0005 UK Biobank 450k GCST90081517 352271 11970 20.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APOB Aspartate aminotransferase (30650) EFO_0004736 3.05e-18 3.05 -18 0.368 0.3 EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 697.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GOT1 Aspartate aminotransferase (30650) EFO_0004736 1.05e-127 1.05 -127 -1.876 -2.042 EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 117.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON STC2 Whole body water mass (23102) EFO_0009805 6.7e-24 6.7 -24 0.137 0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 2489.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R Whole body water mass (23102) EFO_0009805 7.44e-15 7.44 -15 -0.085 -0.114 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 1485.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PAPPA2 Whole body water mass (23102) EFO_0009805 9.33e-12 9.33 -12 -0.163 -0.229 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 285.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ABCB4 ICD10 K80: Cholelithiasis EFO_0004799 1.11e-14 1.11 -14 1.342 1.446 EUR HANCESTRO_0005 UK Biobank 450k GCST90080297 385441 17665 872.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Whole body water mass (23102) EFO_0009805 1.07e-15 1.07 -15 0.45 0.362 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 157.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Whole body water mass (23102) EFO_0009805 3.36e-30 3.36 -30 0.321 0.274 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 554.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ABCG5 ICD10 K80: Cholelithiasis EFO_0004799 1.36e-20 1.36 -20 0.388 0.473 EUR HANCESTRO_0005 UK Biobank 450k GCST90080297 385441 17665 71.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Whole body water mass (23102) EFO_0009805 1.94e-19 1.94 -19 -0.371 -0.475 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 115.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HNF1A ICD10 E11.9: Type 2 diabetes mellitus without complications MONDO_0005148 1.04e-11 1.04 -11 5.844 9.72 EUR HANCESTRO_0005 UK Biobank 450k GCST90079741 385838 26590 29.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LRP2 Urate (30880) EFO_0004531 1.19e-18 1.19 -18 0.195 0.16 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 1875.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON CLDN10 Urea (30670) EFO_0009795 3.82e-12 3.82 -12 0.656 0.512 EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 156.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON G6PC Urate (30880) EFO_0004531 1.18e-12 1.18 -12 0.186 0.146 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 1451.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC2A9 Urate (30880) EFO_0004531 4.3500000000000003e-26 4.35 -26 -0.634 -0.778 SAS HANCESTRO_0006 UK Biobank 450k 9833 9833 135.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC22A12 Urate (30880) EFO_0004531 2.2300000000000002e-307 2.23 -307 -0.953 -0.985 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 2246.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GCK TAG ProbableT2D (RGC) MONDO_0005148 5.43e-24 5.43 -24 4.955 6.76 EUR HANCESTRO_0005 UK Biobank 450k GCST90081526 426342 17719 72.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC2A9 Urate (30880) EFO_0004531 1.03e-41 1.03 -41 -0.772 -0.902 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 148.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 Urate (30880) EFO_0004531 5.53e-12 5.53 -12 0.436 0.339 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 252.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC12A1 Urea (30670) EFO_0009795 2.95e-12 2.95 -12 0.089 0.07 EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 8670.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GCK ICD10 E11.9: Type 2 diabetes mellitus without complications MONDO_0005148 1.0500000000000001e-32 1.05 -32 6.181 8.341 EUR HANCESTRO_0005 UK Biobank 450k GCST90079741 385838 26590 87.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON COL4A4 Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 8.39e-85 8.39 -85 0.975 0.886 EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 447.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC22A12 Urate (30880) EFO_0004531 7.16e-26 7.16 -26 -0.699 -0.859 SAS HANCESTRO_0006 UK Biobank 450k 9833 9833 106.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGFALS Urate (30880) EFO_0004531 3.81e-12 3.81 -12 0.189 0.148 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 1355.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CLDN10 Urea (30670) EFO_0009795 1.82e-11 1.82 -11 0.795 0.616 EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 101.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON COL4A4 Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 8.39e-85 8.39 -85 0.975 0.886 EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 447.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TSHR Non cancer illness code self reported - hypothyroidism myxoedema/ICD10 E03 EFO_1001055 1.45e-20 1.45 -20 2.358 2.825 EUR HANCESTRO_0005 UK Biobank 450k GCST90077731 329052 18362 176.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TSHR Non cancer illness code self reported - hypothyroidism myxoedema/ICD10 E03 EFO_1001055 1.45e-20 1.45 -20 2.358 2.825 EUR HANCESTRO_0005 UK Biobank 450k GCST90077731 329052 18362 176.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TSHR Non cancer illness code self reported - hypothyroidism myxoedema/ICD10 E03 EFO_1001055 2.52e-13 2.52 -13 3.018 4.057 EUR HANCESTRO_0005 UK Biobank 450k GCST90077731 329052 18362 71.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON STC2 Leg predicted mass left (23118) EFO_0004302 1.39e-18 1.39 -18 0.127 0.103 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 2488.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SERPINC1 ICD10 D68: Other coagulation defects EFO_0009314 2.54e-13 2.54 -13 250.757 1101.37 EUR HANCESTRO_0005 UK Biobank 450k GCST90079713 387478 1286 6.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SMAD6 Sitting height (20015) EFO_0011011 1.66e-11 1.66 -11 0.287 0.222 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 403.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS17 Sitting height (20015) EFO_0011011 1.33e-16 1.33 -16 -0.065 -0.086 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 4115.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Sitting height (20015) EFO_0011011 7.39e-13 7.39 -13 0.461 0.362 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 172.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON COL1A1 Sitting height (20015) EFO_0011011 8.93e-12 8.93 -12 -0.38 -0.533 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 72.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Leg predicted mass left (23118) EFO_0004302 1.62e-13 1.62 -13 -0.062 -0.084 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 2642.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON WNT1 Sitting height (20015) EFO_0011011 3.87e-13 3.87 -13 -0.18 -0.247 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 382.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Sitting height (20015) EFO_0011011 2.51e-16 2.51 -16 0.415 0.335 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 263.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GRAMD2 Sitting height (20015) EFO_0011011 5.22e-16 5.22 -16 0.067 0.054 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 10066.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Leg predicted mass left (23118) EFO_0004302 2.44e-12 2.44 -12 0.418 0.327 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 157.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Sitting height (20015) EFO_0011011 5.25e-13 5.25 -13 -0.067 -0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 2702.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON NRK Sitting height (20015) EFO_0011011 5.17e-14 5.17 -14 0.251 0.199 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 462.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IRS1 Sitting height (20015) EFO_0011011 7.94e-16 7.94 -16 -0.337 -0.445 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 145.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PAPPA2 Leg predicted mass left (23118) EFO_0004302 1.72e-11 1.72 -11 -0.062 -0.088 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 2008.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GHRH Sitting height (20015) EFO_0011011 2.58e-14 2.58 -14 -0.31 -0.417 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 146.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Sitting height (20015) EFO_0011011 5.31e-18 5.31 -18 0.555 0.452 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 161.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACAN Leg predicted mass left (23118) EFO_0004302 1e-13 10.0 -14 -0.298 -0.405 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 115.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Sitting height (20015) EFO_0011011 7.39e-13 7.39 -13 0.461 0.362 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 172.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Leg predicted mass left (23118) EFO_0004302 5.02e-15 5.02 -15 -0.052 -0.069 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 4403.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Leg predicted mass left (23118) EFO_0004302 5.17e-20 5.17 -20 0.163 0.134 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 1594.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Leg predicted mass left (23118) EFO_0004302 2.82e-12 2.82 -12 0.358 0.28 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 213.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MLH1 ICD10 Z08: Encounter for follow-up examination after completed treatment for malignant neoplasm EFO_0004542 6.81e-16 6.81 -16 11.876 21.654 EUR HANCESTRO_0005 UK Biobank 450k GCST90081200 387917 6079 22.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MSH2 ICD10 Z08: Encounter for follow-up examination after completed treatment for malignant neoplasm EFO_0004542 7.14e-18 7.14 -18 15.2 28.235 EUR HANCESTRO_0005 UK Biobank 450k GCST90081200 387917 6079 22.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 7.840000000000001e-29 7.84 -29 4.201 5.408 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 101.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 6.92e-17 6.92 -17 1.723 1.958 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 301.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 2.8299999999999997e-60 2.83 -60 6.781 8.527 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 141.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Arm fat free mass left (23125) EFO_0004995 7.98e-18 7.98 -18 -0.356 -0.461 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 115.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TERT Mean corpuscular volume (30040) EFO_0004526 3.94e-21 3.94 -21 0.634 0.525 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 250.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TMPRSS6 Mean corpuscular volume (30040) EFO_0004526 6.12e-25 6.12 -25 -0.37 -0.457 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 400.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Arm fat free mass left (23125) EFO_0004995 1.77e-12 1.77 -12 0.441 0.345 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 138.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON KLF1 Mean corpuscular volume (30040) EFO_0004526 5.799999999999999e-75 5.8 -75 -0.775 -0.868 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 348.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Arm fat free mass left (23125) EFO_0004995 7.37e-20 7.37 -20 -0.518 -0.66 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 63.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TERT Mean corpuscular volume (30040) EFO_0004526 1.38e-21 1.38 -21 0.652 0.541 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 241.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON HBB Mean corpuscular volume (30040) EFO_0004526 8.8e-232 8.8 -232 -2.72 -2.894 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 98.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 Mother still alive - Yes (1835) EFO_0007796 6.18e-14 6.18 -14 0.617 0.7 EUR HANCESTRO_0005 UK Biobank 450k GCST90077615 423687 167942 491.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GNB1 Mean corpuscular volume (30040) EFO_0004526 4.42e-12 4.42 -12 -0.252 -0.351 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 304.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CAD Mean corpuscular volume (30040) EFO_0004526 4.67e-13 4.67 -13 0.15 0.118 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 2925.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 Mother still alive - Yes (1835) EFO_0007796 1.86e-13 1.86 -13 0.489 0.592 EUR HANCESTRO_0005 UK Biobank 450k GCST90077615 423687 167942 192.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Arm fat free mass left (23125) EFO_0004995 1.15e-12 1.15 -12 0.371 0.291 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 197.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PAPPA2 Arm fat free mass left (23125) EFO_0004995 8.22e-12 8.22 -12 -0.07 -0.098 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 1620.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON POLE Mean corpuscular volume (30040) EFO_0004526 6.000000000000001e-28 6.0 -28 0.159 0.135 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 5209.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CLSPN Mean corpuscular volume (30040) EFO_0004526 4.58e-13 4.58 -13 0.661 0.521 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 151.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON RGS11 Mean corpuscular volume (30040) EFO_0004526 2.01e-12 2.01 -12 -0.397 -0.551 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 224.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 Mother still alive - Yes (1835) EFO_0007796 2.64e-18 2.64 -18 0.553 0.631 EUR HANCESTRO_0005 UK Biobank 450k GCST90077615 423687 167942 409.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 Mother still alive - Yes (1835) EFO_0007796 1.86e-13 1.86 -13 0.489 0.592 EUR HANCESTRO_0005 UK Biobank 450k GCST90077615 423687 167942 192.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TFRC Mean corpuscular volume (30040) EFO_0004526 8.910000000000001e-21 8.91 -21 -0.362 -0.457 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 326.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON OR51V1 Mean corpuscular volume (30040) EFO_0004526 6.47e-19 6.47 -19 -0.778 -0.998 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 83.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Arm fat free mass left (23125) EFO_0004995 1.42e-22 1.42 -22 0.195 0.162 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TFRC Mean corpuscular volume (30040) EFO_0004526 9.31e-12 9.31 -12 -0.16 -0.225 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 717.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Arm fat free mass left (23125) EFO_0004995 1.23e-22 1.23 -22 -0.068 -0.086 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 4403.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN ICD10 I50.0: Congestive heart failure (I50.0) EFO_0000373 4.89e-22 4.89 -22 4.014 5.323 EUR HANCESTRO_0005 UK Biobank 450k GCST90080020 387930 3182 76.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN ICD10 I50.0: Congestive heart failure (I50.0) EFO_0000373 4.89e-22 4.89 -22 4.014 5.323 EUR HANCESTRO_0005 UK Biobank 450k GCST90080020 387930 3182 76.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN ICD10 I34.0: Nonrheumatic mitral (valve) insufficiency EFO_0009557 1.02e-11 1.02 -11 3.022 4.157 EUR HANCESTRO_0005 UK Biobank 450k GCST90079991 387332 2987 54.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN ICD10 I34.0: Nonrheumatic mitral (valve) insufficiency EFO_0009557 3.82e-13 3.82 -13 2.61 3.381 EUR HANCESTRO_0005 UK Biobank 450k GCST90079991 387332 2987 79.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MYOC Non cancer illness code self reported - glaucoma/ICD10 H40 EFO_0000516 8.72e-13 8.72 -13 2.948 3.965 EUR HANCESTRO_0005 UK Biobank 450k GCST90077755 329052 4377 63.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR LipidLowering Med (RGC) EFO_0007010 2.0300000000000002e-21 2.03 -21 3.832 5.056 EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 128.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR LipidLowering Med (RGC) EFO_0007010 2.98e-21 2.98 -21 8.292 12.85 EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 60.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON LDLR LipidLowering Med (RGC) EFO_0007010 3.51e-35 3.51 -35 19.062 30.401 EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 76.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON COL1A1 Non cancer illness code self reported - bone disorder EFO_0004260 8.28e-13 8.28 -13 35.735 95.157 EUR HANCESTRO_0005 UK Biobank 450k GCST90077769 331754 988 10.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON LDLR LipidLowering Med (RGC) EFO_0007010 3.93e-108 3.93 -108 3.677 4.127 EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 726.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SEC23B Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.3999999999999998e-43 2.4 -43 0.673 0.589 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 466.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HSPA9 Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.77e-16 5.77 -16 0.215 0.173 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1880.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON KLF1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.36e-90 2.36 -90 1.096 0.999 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 348.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 9.96e-14 9.96 -14 0.534 0.423 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 263.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON APOB Apolipoprotein B (30640) EFO_0004615 1.08e-89 1.08 -89 -0.544 -0.603 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 938.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GIGYF1 Apolipoprotein B (30640) EFO_0004615 2.94e-14 2.94 -14 -0.417 -0.562 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 152.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SUPT5H Red blood cell erythrocyte distribution width (30070) EFO_0009188 7.18e-15 7.18 -15 1.671 1.335 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 29.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 Apolipoprotein B (30640) EFO_0004615 5.16e-162 5.16 -162 -0.919 -0.99 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 635.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB Apolipoprotein B (30640) EFO_0004615 2.2300000000000002e-307 2.23 -307 -1.602 -1.685 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 474.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HSPA9 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.5e-68 2.5 -68 1.181 1.062 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 232.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASGR1 Apolipoprotein B (30640) EFO_0004615 6.53e-18 6.53 -18 -0.221 -0.286 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 759.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TMPRSS6 Red blood cell erythrocyte distribution width (30070) EFO_0009188 3.42e-38 3.42 -38 0.367 0.318 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1412.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ASGR1 Apolipoprotein B (30640) EFO_0004615 6.53e-18 6.53 -18 -0.221 -0.286 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 759.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.75e-114 1.75 -114 2.307 2.124 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 98.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC12A7 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.79e-24 6.79 -24 -0.126 -0.156 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3620.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LARP1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.31e-13 1.31 -13 1.51 1.194 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 33.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON TFR2 Red blood cell erythrocyte distribution width (30070) EFO_0009188 7.67e-18 7.67 -18 -0.106 -0.137 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3379.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCG5 Apolipoprotein B (30640) EFO_0004615 6.65e-14 6.65 -14 0.135 0.107 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 4140.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GMPR Red blood cell erythrocyte distribution width (30070) EFO_0009188 4.74e-20 4.74 -20 -0.166 -0.211 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1619.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SMPD2 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.11e-13 2.11 -13 0.157 0.124 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3001.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.1200000000000001e-22 1.12 -22 2.491 2.076 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 19.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.11e-11 1.11 -11 2.39 1.855 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CAD Red blood cell erythrocyte distribution width (30070) EFO_0009188 9.93e-13 9.93 -13 0.257 0.202 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1068.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON APEH Red blood cell erythrocyte distribution width (30070) EFO_0009188 8.41e-16 8.41 -16 -0.18 -0.238 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 975.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 9.24e-12 9.24 -12 2.563 1.99 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 10.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON CETP Apolipoprotein B (30640) EFO_0004615 4.82e-13 4.82 -13 -0.169 -0.231 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 816.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Apolipoprotein B (30640) EFO_0004615 1.16e-65 1.16 -65 0.435 0.39 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 1747.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON S1PR4 Monocyte count (30130) EFO_0005091 2.45e-12 2.45 -12 -0.179 -0.249 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 636.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ASXL1 Monocyte count (30130) EFO_0005091 1e-12 10.0 -13 0.131 0.103 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 3854.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 Apolipoprotein B (30640) EFO_0004615 2.77e-38 2.77 -38 -0.612 -0.721 AFR HANCESTRO_0010 UK Biobank 450k 8474 8474 308.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IL17RA Monocyte count (30130) EFO_0005091 2.2300000000000002e-307 2.23 -307 -0.448 -0.47 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 6105.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IL17RA Monocyte count (30130) EFO_0005091 1.76e-17 1.76 -17 -0.454 -0.589 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 166.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PCSK9 Apolipoprotein B (30640) EFO_0004615 5.91e-50 5.91 -50 -0.695 -0.801 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 291.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON CXCR4 Monocyte count (30130) EFO_0005091 4.2e-15 4.2 -15 0.474 0.379 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 345.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON EPB41 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.87e-19 1.87 -19 0.754 0.619 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 182.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.11e-11 1.11 -11 2.39 1.855 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 1.84e-14 1.84 -14 2.358 2.936 EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 106.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON FLG Age hay fever rhinitis or eczema diagnosed (3761) EFO_0003956 2.02e-12 2.02 -12 -0.163 -0.226 EUR HANCESTRO_0005 UK Biobank 450k GCST90079072 88602 88602 880.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON FLG Age hay fever rhinitis or eczema diagnosed (3761) EFO_0003956 1.7999999999999998e-35 1.8 -35 -0.179 -0.213 EUR HANCESTRO_0005 UK Biobank 450k GCST90079072 88602 88602 3170.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TMPRSS6 Haemoglobin concentration (30020) EFO_0004509 5.4e-23 5.4 -23 -0.312 -0.389 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 361.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TFR2 Haemoglobin concentration (30020) EFO_0004509 1.1e-18 1.1 -18 0.252 0.207 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1024.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PFKM Haemoglobin concentration (30020) EFO_0004509 6.99e-17 6.99 -17 0.197 0.159 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1539.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Haemoglobin concentration (30020) EFO_0004509 7.89e-12 7.89 -12 -0.945 -1.325 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TFR2 Haemoglobin concentration (30020) EFO_0004509 1.7e-20 1.7 -20 0.145 0.12 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 3379.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Haemoglobin concentration (30020) EFO_0004509 1.27e-133 1.27 -133 -1.712 -1.86 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 98.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Haemoglobin concentration (30020) EFO_0004509 6.04e-29 6.04 -29 -1.579 -1.915 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 19.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON HBB Haemoglobin concentration (30020) EFO_0004509 1.4e-13 1.4 -13 -1.285 -1.748 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 10.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON TFR2 Haemoglobin concentration (30020) EFO_0004509 1.7e-20 1.7 -20 0.145 0.12 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 3379.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PLA2G12A Lipoprotein A (30790) EFO_0006925 1.11e-11 1.11 -11 -0.047 -0.066 EUR HANCESTRO_0005 UK Biobank 450k GCST90079034 329317 329317 6408.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APOC3 Eosinophil count (30150) EFO_0004842 7.43e-13 7.43 -13 0.179 0.141 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 2210.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Haemoglobin concentration (30020) EFO_0004509 7.89e-12 7.89 -12 -0.945 -1.325 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Eosinophil count (30150) EFO_0004842 4.24e-57 4.24 -57 -0.305 -0.348 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 1791.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BAK1 Platelet crit (30090) EFO_0007985 1.02e-15 1.02 -15 0.402 0.323 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 475.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SH2B3 Platelet crit (30090) EFO_0007985 2.01e-16 2.01 -16 0.296 0.239 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 908.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MPL Platelet crit (30090) EFO_0007985 4.43e-34 4.43 -34 0.47 0.404 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 699.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PTPRH Platelet crit (30090) EFO_0007985 2.6899999999999997e-41 2.69 -41 -0.163 -0.19 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 3851.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CHEK2 Platelet crit (30090) EFO_0007985 2.64e-31 2.64 -31 0.179 0.153 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 5040.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IL33 Atopy CC (RGC) EFO_0002686 5.44e-13 5.44 -13 0.698 0.77 EUR HANCESTRO_0005 UK Biobank 450k GCST90081463 359926 46691 416.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SH2B3 Platelet crit (30090) EFO_0007985 3.13e-12 3.13 -12 0.534 0.416 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 215.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MYOC ICD10 H40: Glaucoma EFO_0000516 3.4000000000000004e-27 3.4 -27 3.969 5.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90079909 384560 8122 98.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR ICD10 I25: Chronic ischemic heart disease EFO_0003777 2.9e-19 2.9 -19 3.789 5.069 EUR HANCESTRO_0005 UK Biobank 450k GCST90079982 387110 32706 84.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MYOC ICD10 H40: Glaucoma EFO_0000516 2.16e-20 2.16 -20 2.905 3.641 EUR HANCESTRO_0005 UK Biobank 450k GCST90079909 384560 8122 110.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR ICD10 I25: Chronic ischemic heart disease EFO_0003777 9.14e-13 9.14 -13 3.379 4.719 EUR HANCESTRO_0005 UK Biobank 450k GCST90079982 387110 32706 61.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Trunk fat mass (23128) EFO_0005409 1.16e-11 1.16 -11 0.583 0.452 EUR HANCESTRO_0005 UK Biobank 450k GCST90078931 423433 423433 197.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PDE3B Trunk fat mass (23128) EFO_0005409 1.58e-11 1.58 -11 0.18 0.139 EUR HANCESTRO_0005 UK Biobank 450k GCST90078931 423433 423433 2066.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK Non cancer illness code self reported - diabetes EFO_0000400 4.71e-16 4.71 -16 17.612 35.203 EUR HANCESTRO_0005 UK Biobank 450k GCST90077722 331754 17927 21.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GCK Non cancer illness code self reported - diabetes EFO_0000400 4.71e-16 4.71 -16 17.612 35.203 EUR HANCESTRO_0005 UK Biobank 450k GCST90077722 331754 17927 21.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APC ICD10 K91.4: Colostomy and enterostomy malfunction (K91.4) EFO_0000405 2.5e-14 2.5 -14 63.128 183.296 EUR HANCESTRO_0005 UK Biobank 450k GCST90080316 387930 635 9.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PROS1 VTE Composite CC (RGC) EFO_0003907 2.67e-15 2.67 -15 6.429 10.197 EUR HANCESTRO_0005 UK Biobank 450k GCST90081534 225913 5702 39.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GIGYF1 ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 1.97e-11 1.97 -11 4.551 7.086 EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 37.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GIGYF1 ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 1.97e-11 1.97 -11 4.551 7.086 EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 37.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON NPR2 Comparative height size at age 10 - Shorter (1697) EFO_0004339 2.0200000000000003e-21 2.02 -21 1.846 2.095 EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 413.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NPR2 Comparative height size at age 10 - Shorter (1697) EFO_0004339 2.0200000000000003e-21 2.02 -21 1.846 2.095 EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 413.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SPTA1 Reticulocyte count (30250) EFO_0007986 6.16e-39 6.16 -39 0.811 0.705 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 299.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 Reticulocyte count (30250) EFO_0007986 1.91e-18 1.91 -18 0.237 0.194 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1767.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANK1 Reticulocyte count (30250) EFO_0007986 1.39e-11 1.39 -11 0.731 0.567 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 123.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC4A1 Reticulocyte count (30250) EFO_0007986 3.47e-13 3.47 -13 0.255 0.201 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1140.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC4A1 Reticulocyte count (30250) EFO_0007986 7.39e-17 7.39 -17 0.949 0.768 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 102.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON RHAG Reticulocyte count (30250) EFO_0007986 3.88e-45 3.88 -45 1.046 0.918 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 204.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON AMPD3 Reticulocyte count (30250) EFO_0007986 1.15e-17 1.15 -17 -0.057 -0.074 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 11795.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PDE3B Reticulocyte count (30250) EFO_0007986 9.63e-12 9.63 -12 -0.132 -0.186 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1165.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Reticulocyte count (30250) EFO_0007986 1.91e-18 1.91 -18 0.237 0.194 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1767.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SPTA1 Reticulocyte count (30250) EFO_0007986 6.46e-13 6.46 -13 0.927 0.729 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 85.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON MC4R Body mass index BMI (21001) EFO_0004340 1.78e-26 1.78 -26 0.335 0.283 EUR HANCESTRO_0005 UK Biobank 450k GCST90078684 429633 429633 1222.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 C77.3: Secondary and unspecified malignant neoplasm of axilla and upper limb lymph nodes MONDO_0024339 6.42e-23 6.42 -23 5.795 8.218 EUR HANCESTRO_0005 UK Biobank 450k GCST90079618 387930 2725 54.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GNB1 Neutrophil percentage (30200) EFO_0007990 2.37e-17 2.37 -17 0.567 0.461 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 304.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CXCR2 Neutrophil percentage (30200) EFO_0007990 2.3e-12 2.3 -12 -0.262 -0.363 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 335.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GNB1 Neutrophil percentage (30200) EFO_0007990 2.37e-17 2.37 -17 0.567 0.461 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 304.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANKRD12 Neutrophil percentage (30200) EFO_0007990 2.79e-16 2.79 -16 0.543 0.438 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 312.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CXCL6 Neutrophil percentage (30200) EFO_0007990 8.31e-17 8.31 -17 -0.077 -0.1 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 6207.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CXCL2 Neutrophil percentage (30200) EFO_0007990 2.43e-14 2.43 -14 -0.531 -0.715 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 102.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SH2B3 Neutrophil count (30140) EFO_0004833 7.18e-32 7.18 -32 0.213 0.182 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 3691.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Neutrophil count (30140) EFO_0004833 1.44e-18 1.44 -18 -0.152 -0.196 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 1791.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NF1 Neutrophil count (30140) EFO_0004833 1.16e-12 1.16 -12 0.483 0.378 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 314.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CXCR4 Neutrophil count (30140) EFO_0004833 6.29e-19 6.29 -19 0.55 0.45 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 345.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CXCR4 Neutrophil count (30140) EFO_0004833 6.29e-19 6.29 -19 0.55 0.45 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 345.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CXCL6 Neutrophil count (30140) EFO_0004833 1.8999999999999998e-24 1.9 -24 -0.099 -0.122 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 6166.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CSF3R Neutrophil count (30140) EFO_0004833 2.28e-17 2.28 -17 0.213 0.173 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 2141.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CXCR4 Neutrophil count (30140) EFO_0004833 1.23e-15 1.23 -15 0.639 0.514 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 215.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SIX6 MeanSphericalEquivalent (RGC) EFO_0004731 1.74e-23 1.74 -23 -0.194 -0.241 EUR HANCESTRO_0005 UK Biobank 450k GCST90081497 106495 106495 1489.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON JAK2 ICD10 D75: Other and unspecified diseases of blood and blood-forming organs EFO_0005803 3.29e-64 3.29 -64 15.201 20.835 EUR HANCESTRO_0005 UK Biobank 450k GCST90079719 387036 993 79.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NOTCH1 Type of Cancer: Lymphoid leukemia (40006) EFO_0004289 5.93e-25 5.93 -25 361.99 1108.67 EUR HANCESTRO_0005 UK Biobank 450k GCST90079125 74230 699 14.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SF3B1 Type of Cancer: Lymphoid leukemia (40006) EFO_0004289 7.84e-13 7.84 -13 15.308 32.292 EUR HANCESTRO_0005 UK Biobank 450k GCST90079125 74230 699 15.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SMAD6 6mm weak meridian right (5098) EFO_0004731 3.89e-21 3.89 -21 0.714 0.591 EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 204.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MEN1 ICD10 E21.0: Primary hyperparathyroidism EFO_0008519 1.1e-14 1.1 -14 434.988 2031.21 EUR HANCESTRO_0005 UK Biobank 450k GCST90079751 387930 643 6.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SIX6 SphericalEquivalent r started wearing glasses contacts before 40 (RGC) EFO_0004731 1.21e-16 1.21 -16 -0.219 -0.287 EUR HANCESTRO_0005 UK Biobank 450k GCST90081513 48976 48976 723.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HNF1A T2D (RGC) MONDO_0005148 2.63e-13 2.63 -13 6.102 9.909 EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 33.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD1 ICD10 N28: Other disorders of kidney and ureter, not elsewhere classified EFO_0009690 5.54e-13 5.54 -13 10.007 18.715 EUR HANCESTRO_0005 UK Biobank 450k GCST90080595 387002 3413 19.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GCK T2D (RGC) MONDO_0005148 1.02e-26 1.02 -26 26.578 48.468 EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 35.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON NPR3 Comparative height size at age 10 - Taller (1697) EFO_0004339 1.48e-12 1.48 -12 1.921 2.301 EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 226.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON STC2 Comparative height size at age 10 - Taller (1697) EFO_0004339 1.43e-12 1.43 -12 1.385 1.516 EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 791.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PROS1 ICD10 I26: Pulmonary embolism EFO_0003827 2.77e-17 2.77 -17 6.326 9.701 EUR HANCESTRO_0005 UK Biobank 450k GCST90079984 387206 5221 37.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PROS1 ICD10 I26: Pulmonary embolism EFO_0003827 8.19e-12 8.19 -12 2.771 3.712 EUR HANCESTRO_0005 UK Biobank 450k GCST90079984 387206 5221 63.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CACNA1F Age started wearing glasses or contact lenses (2217) EFO_0004847 7.67e-13 7.67 -13 -0.471 -0.648 EUR HANCESTRO_0005 UK Biobank 450k GCST90078869 374837 374837 64.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ANK1 Mean sphered cell volume (30270) EFO_0004526 1.01e-34 1.01 -34 -0.101 -0.121 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 8816.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON POLE Mean sphered cell volume (30270) EFO_0004526 8.66e-15 8.66 -15 0.338 0.27 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 682.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON E2F4 Mean sphered cell volume (30270) EFO_0004526 1.64e-15 1.64 -15 1.838 1.475 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 24.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON RTEL1 Mean sphered cell volume (30270) EFO_0004526 8.93e-15 8.93 -15 0.481 0.384 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 336.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 6.48e-86 6.48 -86 -1.865 -2.071 SAS HANCESTRO_0006 UK Biobank 450k 9690 9690 99.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON NPC1 Mean sphered cell volume (30270) EFO_0004526 6.38e-13 6.38 -13 -0.097 -0.133 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 2705.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CAD Mean sphered cell volume (30270) EFO_0004526 1.3299999999999998e-48 1.33 -48 1.179 1.04 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 164.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON RTEL1 Mean sphered cell volume (30270) EFO_0004526 9.54e-21 9.54 -21 0.247 0.204 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 1725.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GMPR Mean sphered cell volume (30270) EFO_0004526 1.61e-11 1.61 -11 0.131 0.102 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 3713.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 1.25e-11 1.25 -11 -1.231 -1.732 EAS HANCESTRO_0009 UK Biobank 450k 2106 2106 16.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BTG2 Mean sphered cell volume (30270) EFO_0004526 1.8e-11 1.8 -11 0.406 0.315 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 383.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CLSPN Mean sphered cell volume (30270) EFO_0004526 8.98e-12 8.98 -12 0.467 0.363 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 293.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON EPB41 Mean sphered cell volume (30270) EFO_0004526 2.2999999999999997e-24 2.3 -24 -0.565 -0.699 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 178.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ANK1 Mean sphered cell volume (30270) EFO_0004526 5.43e-12 5.43 -12 -0.086 -0.121 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 2732.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON E2F8 Mean sphered cell volume (30270) EFO_0004526 1.34e-11 1.34 -11 0.48 0.372 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 272.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON RHAG Mean sphered cell volume (30270) EFO_0004526 1.29e-43 1.29 -43 -0.765 -0.891 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 203.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON OCA2 Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 1.53e-15 1.53 -15 0.649 0.722 EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 485.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SPATA33 Hair colour natural before greying - Red (1747) EFO_0007822 3.66e-41 3.66 -41 0.217 0.272 EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 43.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TYR Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 3.17e-21 3.17 -21 0.678 0.735 EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 863.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC45A2 Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 1.9099999999999999e-34 1.91 -34 0.623 0.672 EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 941.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANKRD11 Hair colour natural before greying - Red (1747) EFO_0007822 8.66e-12 8.66 -12 0.574 0.673 EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 131.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC1R Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 4.6099999999999996e-95 4.61 -95 0.554 0.586 EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 1621.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN ICD10 I48: Atrial fibrillation and flutter EFO_0000275 3.95e-25 3.95 -25 1.771 1.974 EUR HANCESTRO_0005 UK Biobank 450k GCST90080015 386856 20107 452.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 I48: Atrial fibrillation and flutter EFO_0000275 1.12e-36 1.12 -36 2.558 2.959 EUR HANCESTRO_0005 UK Biobank 450k GCST90080015 386856 20107 280.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN ICD10 I48: Atrial fibrillation and flutter EFO_0000275 6.42e-32 6.42 -32 2.05 2.311 EUR HANCESTRO_0005 UK Biobank 450k GCST90080015 386856 20107 386.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON IL17RA Lymphocyte percentage (30180) EFO_0007993 7.71e-14 7.71 -14 0.113 0.089 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 6105.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RASA2 Lymphocyte percentage (30180) EFO_0007993 1.15e-16 1.15 -16 -0.189 -0.248 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 970.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NOTCH1 Lymphocyte percentage (30180) EFO_0007993 4.6800000000000005e-27 4.68 -27 1.725 1.46 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 47.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON RASA2 Lymphocyte percentage (30180) EFO_0007993 5.65e-16 5.65 -16 -0.224 -0.296 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 649.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON RASA2 Lymphocyte percentage (30180) EFO_0007993 5.51e-14 5.51 -14 -0.29 -0.392 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 318.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON RASA2 Lymphocyte percentage (30180) EFO_0007993 5.51e-14 5.51 -14 -0.29 -0.392 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 318.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON NF1 Lymphocyte percentage (30180) EFO_0007993 5.01e-14 5.01 -14 -0.293 -0.396 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 314.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON RHAG Mean corpuscular haemoglobin concentration (30060) EFO_0004528 1.4400000000000001e-21 1.44 -21 0.514 0.426 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 463.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.89e-13 3.89 -13 -1.456 -1.994 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 14.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 5.88e-12 5.88 -12 -1.281 -1.791 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 9.91e-15 9.91 -15 1.747 2.012 EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 250.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.43e-128 2.43 -128 -2.149 -2.339 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 98.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPTA1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.74e-16 2.74 -16 0.505 0.407 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 373.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.89e-13 3.89 -13 -1.456 -1.994 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 14.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TMPRSS6 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 1.58e-13 1.58 -13 -0.274 -0.373 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 361.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBQ1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 1.74e-18 1.74 -18 -0.466 -0.6 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 233.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS3 Impedance of arm left (23110) HP_0000924 6.76e-23 6.76 -23 -0.07 -0.088 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 5509.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CYR61 Impedance of arm left (23110) HP_0000924 2.05e-12 2.05 -12 0.068 0.053 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 7640.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Impedance of arm left (23110) HP_0000924 3.84e-30 3.84 -30 0.134 0.114 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 4408.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON COL8A2 Impedance of arm left (23110) HP_0000924 2.85e-15 2.85 -15 0.362 0.29 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 322.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON OBSCN Impedance of arm left (23110) HP_0000924 7.860000000000001e-21 7.86 -21 -0.046 -0.058 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 11787.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 Z87.1: Personal history of diseases of the digestive system EFO_0000405 5.57e-12 5.57 -12 8.586 15.828 EUR HANCESTRO_0005 UK Biobank 450k GCST90081368 386566 20497 21.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON ASXL1 Age stopped smoking (2897) EFO_0004319 3.35e-16 3.35 -16 0.451 0.364 EUR HANCESTRO_0005 UK Biobank 450k GCST90078969 108447 108447 458.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON OCA2 started wearing glasses contacts before 40 (RGC) EFO_0004731 8.639999999999999e-24 8.64 -24 -0.112 -0.139 EUR HANCESTRO_0005 UK Biobank 450k GCST90081542 192090 192090 5146.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TGFB2 FEV1 FVC ratio Z score (20258) EFO_0004713 1.78e-13 1.78 -13 0.102 0.08 EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 7690.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HMCN1 FEV1 FVC ratio Z score (20258) EFO_0004713 9.47e-47 9.47 -47 0.515 0.453 EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 909.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 4.95e-16 4.95 -16 7.795 12.801 EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 31.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC34A1 Phosphate (30810) EFO_0010968 2.79e-14 2.79 -14 -0.075 -0.102 EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 4943.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ENPP1 Phosphate (30810) EFO_0010968 1.4e-12 1.4 -12 -0.239 -0.331 EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 403.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC4R Whole body fat mass (23100) EFO_0005409 2.08e-22 2.08 -22 0.307 0.256 EUR HANCESTRO_0005 UK Biobank 450k GCST90078904 423023 423023 1199.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON THBS3 Impedance of arm right (23109) HP_0000924 8.53e-13 8.53 -13 -0.072 -0.1 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 2239.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADAMTS17 Impedance of arm right (23109) HP_0000924 7.11e-15 7.11 -15 -0.06 -0.08 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 4064.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EML4 Impedance of arm right (23109) HP_0000924 6.52e-13 6.52 -13 -0.093 -0.128 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 1376.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON FGD1 Impedance of arm right (23109) HP_0000924 7.05e-14 7.05 -14 -0.35 -0.475 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 61.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON COL8A2 Impedance of arm right (23109) HP_0000924 1.54e-14 1.54 -14 0.222 0.177 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 811.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Impedance of arm right (23109) HP_0000924 1.53e-41 1.53 -41 0.198 0.173 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 2646.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ADAMTS17 Impedance of arm right (23109) HP_0000924 7.11e-15 7.11 -15 -0.06 -0.08 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 4064.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Whole body fat mass (23100) EFO_0005409 5.14e-13 5.14 -13 0.594 0.467 EUR HANCESTRO_0005 UK Biobank 450k GCST90078904 423023 423023 197.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON OBSCN Impedance of arm right (23109) HP_0000924 8.23e-14 8.23 -14 -0.018 -0.025 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 44586.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Impedance of arm right (23109) HP_0000924 2.32e-12 2.32 -12 -0.108 -0.15 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Impedance of arm right (23109) HP_0000924 6.4500000000000004e-27 6.45 -27 0.11 0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 5848.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IL33 Asthma (RGC) MONDO_0004979 3.29e-13 3.29 -13 0.727 0.792 EUR HANCESTRO_0005 UK Biobank 450k GCST90081461 375465 61807 571.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON FLG Asthma (RGC) MONDO_0004979 2.43e-17 2.43 -17 1.227 1.287 EUR HANCESTRO_0005 UK Biobank 450k GCST90081461 375465 61807 2344.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GCK Non cancer illness code self reported - diabetes/ICD10 E14 EFO_0000400 2.83e-15 2.83 -15 17.083 34.55 EUR HANCESTRO_0005 UK Biobank 450k GCST90077723 329052 16961 20.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GCK Non cancer illness code self reported - diabetes/ICD10 E14 EFO_0000400 1.47e-13 1.47 -13 3.76 5.342 EUR HANCESTRO_0005 UK Biobank 450k GCST90077723 329052 16961 52.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 I47: Paroxysmal tachycardia EFO_0009493 1.19e-13 1.19 -13 2.351 2.946 EUR HANCESTRO_0005 UK Biobank 450k GCST90080013 387060 4268 101.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON INSC Heel quantitative ultrasound index QUI direct entry right (4123) EFO_0004514 6.65e-14 6.65 -14 0.118 0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90079157 166358 166358 5126.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLCO1B3 Total bilirubin (30840) EFO_0004570 1.9799999999999999e-140 1.98 -140 0.314 0.291 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 4822.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Total bilirubin (30840) EFO_0004570 1.69e-13 1.69 -13 0.718 0.567 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 105.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SAG Total bilirubin (30840) EFO_0004570 4.43e-14 4.43 -14 0.376 0.299 AFR HANCESTRO_0010 UK Biobank 450k 8490 8490 726.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A7 Total bilirubin (30840) EFO_0004570 3.15e-15 3.15 -15 0.529 0.424 SAS HANCESTRO_0006 UK Biobank 450k 9811 9811 336.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RP11-545J16.1 Total bilirubin (30840) EFO_0004570 6.85e-42 6.85 -42 0.194 0.17 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 4104.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IL33 Non cancer illness code self reported - asthma/ICD10 J45 MONDO_0004979 1.41e-11 1.41 -11 0.707 0.782 EUR HANCESTRO_0005 UK Biobank 450k GCST90077672 329051 45415 397.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A6 Total bilirubin (30840) EFO_0004570 2.12e-18 2.12 -18 0.604 0.494 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 269.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCC2 Total bilirubin (30840) EFO_0004570 2.07e-17 2.07 -17 0.103 0.083 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 6540.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A10 Total bilirubin (30840) EFO_0004570 3.06e-90 3.06 -90 0.465 0.424 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1935.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPTA1 Total bilirubin (30840) EFO_0004570 2.2e-26 2.2 -26 0.519 0.438 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 365.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLCO1B3 Total bilirubin (30840) EFO_0004570 2.7899999999999997e-91 2.79 -91 0.328 0.299 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 2926.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SH2B3 Total bilirubin (30840) EFO_0004570 1.65e-12 1.65 -12 0.12 0.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 3592.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 C78.6: Secondary malignant neoplasm of retroperitoneum and peritoneum EFO_0009812 3.82e-22 3.82 -22 7.099 10.559 EUR HANCESTRO_0005 UK Biobank 450k GCST90079623 387930 1833 43.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON FLG Non cancer illness code self reported - asthma/ICD10 J45 MONDO_0004979 5.95e-14 5.95 -14 1.23 1.298 EUR HANCESTRO_0005 UK Biobank 450k GCST90077672 329051 45415 1748.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A1 Total bilirubin (30840) EFO_0004570 1.79e-16 1.79 -16 0.548 0.443 SAS HANCESTRO_0006 UK Biobank 450k 9811 9811 335.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A7 Total bilirubin (30840) EFO_0004570 3.35e-36 3.35 -36 0.357 0.309 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1419.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Forced expiratory volume in 1 second FEV1 Best measure (20150) EFO_0004314 5.32e-12 5.32 -12 -0.06 -0.083 EUR HANCESTRO_0005 UK Biobank 450k GCST90078316 322002 322002 3321.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ORAI3 Basophil percentage (30220) EFO_0007992 2.89e-16 2.89 -16 -0.134 -0.176 EUR HANCESTRO_0005 UK Biobank 450k GCST90078999 418454 418454 2094.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 5.49e-12 5.49 -12 4.106 6.135 EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 37.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GNB1 Basophil percentage (30220) EFO_0007992 1.14e-12 1.14 -12 0.514 0.403 EUR HANCESTRO_0005 UK Biobank 450k GCST90078999 418454 418454 304.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ALOX15 Eosinophil percentage (30210) EFO_0007991 1.06e-14 1.06 -14 -0.052 -0.069 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 11222.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 4.67e-14 4.67 -14 4.855 7.32 EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 37.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Basal metabolic rate (23105) EFO_0007777 3.56e-17 3.56 -17 -0.578 -0.753 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 44.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON TTN Basal metabolic rate (23105) EFO_0007777 1.5e-13 1.5 -13 -0.043 -0.058 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 5845.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Basal metabolic rate (23105) EFO_0007777 6.26e-15 6.26 -15 0.361 0.289 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 257.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACAN Basal metabolic rate (23105) EFO_0007777 5.17e-17 5.17 -17 -0.355 -0.463 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 115.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Basal metabolic rate (23105) EFO_0007777 2.64e-18 2.64 -18 -0.061 -0.079 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 4404.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Basal metabolic rate (23105) EFO_0007777 1.96e-15 1.96 -15 0.418 0.336 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 197.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON IRS1 Basal metabolic rate (23105) EFO_0007777 1.41e-20 1.41 -20 -0.369 -0.468 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 140.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Basal metabolic rate (23105) EFO_0007777 3.96e-20 3.96 -20 -0.136 -0.173 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 995.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Basal metabolic rate (23105) EFO_0007777 1.38e-11 1.38 -11 0.397 0.308 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 170.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Basal metabolic rate (23105) EFO_0007777 8.39e-25 8.39 -25 0.182 0.153 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 1595.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Basal metabolic rate (23105) EFO_0007777 6.33e-20 6.33 -20 -0.536 -0.682 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 63.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PAPPA2 Basal metabolic rate (23105) EFO_0007777 1.14e-11 1.14 -11 -0.064 -0.09 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 2008.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MLH1 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 2.33e-15 2.33 -15 29.997 69.583 EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 15.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON MSH2 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 2.49e-13 2.49 -13 4.163 6.1 EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 43.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC1R Skin colour - Light olive (1717) EFO_0003784 1.38e-20 1.38 -20 0.25 0.335 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 43.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON OCA2 Skin colour - Light olive (1717) EFO_0003784 1.44e-15 1.44 -15 0.161 0.253 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 12.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON DCT Skin colour - Light olive (1717) EFO_0003784 5.19e-12 5.19 -12 0.679 0.758 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 386.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC45A2 Skin colour - Light olive (1717) EFO_0003784 1.09e-32 1.09 -32 0.191 0.251 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 35.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TYRP1 Skin colour - Light olive (1717) EFO_0003784 4.04e-19 4.04 -19 0.489 0.572 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 165.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ABCA1 Apolipoprotein A (30630) EFO_0004732 4.65e-127 4.65 -127 -0.739 -0.804 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 639.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CREB3L3 Apolipoprotein A (30630) EFO_0004732 6e-18 6.0 -18 -0.241 -0.312 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 551.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CHD2 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 2.73e-19 2.73 -19 111.857 313.216 EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 11.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PDE3B Apolipoprotein A (30630) EFO_0004732 1.8700000000000003e-27 1.87 -27 0.254 0.215 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1841.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APOA1 Apolipoprotein A (30630) EFO_0004732 2.4900000000000004e-32 2.49 -32 -1.611 -1.93 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 27.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON APOC3 Apolipoprotein A (30630) EFO_0004732 1.11e-36 1.11 -36 0.771 0.667 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 259.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOA1 Apolipoprotein A (30630) EFO_0004732 2.4900000000000004e-32 2.49 -32 -1.611 -1.93 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 27.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON KDM5B 3mm strong meridian right (5132) EFO_0004731 1.43e-11 1.43 -11 -0.567 -0.799 EUR HANCESTRO_0005 UK Biobank 450k GCST90079298 103540 103540 58.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SF3B1 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 1.68e-19 1.68 -19 22.526 44.28 EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 19.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOA5 Apolipoprotein A (30630) EFO_0004732 2.19e-12 2.19 -12 -0.22 -0.305 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 382.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CHD2 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 2.28e-22 2.28 -22 255.178 779.382 EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 11.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON LCAT Apolipoprotein A (30630) EFO_0004732 3.1499999999999995e-23 3.15 -23 -0.904 -1.126 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 57.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOA5 Apolipoprotein A (30630) EFO_0004732 3.49e-12 3.49 -12 -0.156 -0.218 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 734.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR Apolipoprotein A (30630) EFO_0004732 5.66e-13 5.66 -13 -0.11 -0.151 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1642.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB Apolipoprotein A (30630) EFO_0004732 4.55e-13 4.55 -13 0.31 0.244 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 632.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LPL Apolipoprotein A (30630) EFO_0004732 1.23e-12 1.23 -12 -0.297 -0.411 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 215.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON CETP Apolipoprotein A (30630) EFO_0004732 1.8199999999999998e-45 1.82 -45 0.674 0.592 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 419.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CREB3L3 Apolipoprotein A (30630) EFO_0004732 5.06e-14 5.06 -14 -0.255 -0.345 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 343.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 Illnesses of mother - None of the above group 2 (20110) EFO_0000493 1.11e-15 1.11 -15 0.519 0.609 EUR HANCESTRO_0005 UK Biobank 450k GCST90078283 423686 308506 376.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOA1 Apolipoprotein A (30630) EFO_0004732 7.72e-14 7.72 -14 -1.409 -1.91 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 11.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON SF3B1 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 1.68e-19 1.68 -19 22.526 44.28 EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 19.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LIPC Apolipoprotein A (30630) EFO_0004732 1.44e-35 1.44 -35 0.525 0.454 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 547.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MYD88 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 9.9e-12 9.9 -12 10.343 20.265 EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 16.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CD36 Apolipoprotein A (30630) EFO_0004732 1.54e-14 1.54 -14 0.3 0.239 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 742.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CREB3L3 Apolipoprotein A (30630) EFO_0004732 4.51e-16 4.51 -16 -0.214 -0.282 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 597.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON COL6A1 Corneal hysteresis right (5256) EFO_0010066 3.44e-25 3.44 -25 -0.92 -1.135 EUR HANCESTRO_0005 UK Biobank 450k GCST90079335 105888 105888 75.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Arm fat mass right (23120) EFO_0005409 4.41e-15 4.41 -15 0.637 0.51 EUR HANCESTRO_0005 UK Biobank 450k GCST90078923 423576 423576 197.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GHRH IGF 1 (30770) EFO_0004627 1.52e-20 1.52 -20 -0.551 -0.698 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 141.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GHSR IGF 1 (30770) EFO_0004627 1.49e-12 1.49 -12 -0.108 -0.15 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1853.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Ankle spacing width left (4100) EFO_0004324 8.06e-12 8.06 -12 0.921 0.716 EUR HANCESTRO_0005 UK Biobank 450k GCST90079148 166283 166283 59.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON STAB1 IGF 1 (30770) EFO_0004627 1.71e-11 1.71 -11 -0.053 -0.075 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 6671.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON C2CD4A IGF 1 (30770) EFO_0004627 4.390000000000001e-37 4.39 -37 -0.144 -0.171 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 4447.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R IGF 1 (30770) EFO_0004627 6.240000000000001e-21 6.24 -21 0.434 0.359 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 544.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON JAK2 IGF 1 (30770) EFO_0004627 1.19e-17 1.19 -17 -0.503 -0.652 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 137.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACY1 IGF 1 (30770) EFO_0004627 7.8e-18 7.8 -18 0.137 0.112 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 4753.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 6mm strong meridian right (5133) EFO_0004731 9.67e-20 9.67 -20 1.011 0.832 EUR HANCESTRO_0005 UK Biobank 450k GCST90079299 90887 90887 95.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON STAB1 IGF 1 (30770) EFO_0004627 5.44e-13 5.44 -13 -0.064 -0.087 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 5621.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADH1C IGF 1 (30770) EFO_0004627 2.05e-18 2.05 -18 0.11 0.09 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 7656.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MIP Non cancer illness code self reported - cataract/ICD10 H26 MONDO_0005129 1.92e-13 1.92 -13 16.147 33.887 EUR HANCESTRO_0005 UK Biobank 450k GCST90077757 329052 7792 16.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TSHR Non cancer illness code self reported - hypothyroidism myxoedema EFO_1001055 6.82e-12 6.82 -12 3.092 4.269 EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 61.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TSHR Non cancer illness code self reported - hypothyroidism myxoedema EFO_1001055 1.04e-18 1.04 -18 3.398 4.457 EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 90.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TSHR Non cancer illness code self reported - hypothyroidism myxoedema EFO_0004705 6.82e-12 6.82 -12 3.092 4.269 EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 61.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN ICD10 I50.9: Heart failure, unspecified EFO_0003144 4.03e-13 4.03 -13 5.753 9.23 EUR HANCESTRO_0005 UK Biobank 450k GCST90080022 387930 2407 29.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON COL4A3 Microalbumin in urine (30500) EFO_0010967 7.49e-13 7.49 -13 0.515 0.404 EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 303.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN ICD10 I50.9: Heart failure, unspecified EFO_0003144 1.25e-11 1.25 -11 2.445 3.168 EUR HANCESTRO_0005 UK Biobank 450k GCST90080022 387930 2407 78.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GIGYF1 Education score England (26414) EFO_0011015 1.97e-13 1.97 -13 0.787 0.621 EUR HANCESTRO_0005 UK Biobank 450k GCST90078953 369491 369491 132.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GIGYF1 Education score England (26414) EFO_0011015 1.97e-13 1.97 -13 0.787 0.621 EUR HANCESTRO_0005 UK Biobank 450k GCST90078953 369491 369491 132.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 Ankle spacing width (3143) EFO_0004324 1.11e-28 1.11 -28 0.475 0.404 EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 481.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON APC ICD10 Z83.7: Family history of diseases of the digestive system EFO_0000493 8.16e-20 8.16 -20 54.591 129.067 EUR HANCESTRO_0005 UK Biobank 450k GCST90081342 387433 947 14.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 Z83.7: Family history of diseases of the digestive system EFO_0000493 8.16e-20 8.16 -20 54.591 129.067 EUR HANCESTRO_0005 UK Biobank 450k GCST90081342 387433 947 14.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Whole body fat free mass (23101) EFO_0004995 2.09e-14 2.09 -14 0.386 0.307 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 197.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Whole body fat free mass (23101) EFO_0004995 2.4099999999999997e-23 2.41 -23 -0.069 -0.085 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 4404.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IRS1 Whole body fat free mass (23101) EFO_0004995 1.0499999999999999e-23 1.05 -23 -0.386 -0.48 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 140.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Whole body fat free mass (23101) EFO_0004995 2.4099999999999997e-23 2.41 -23 -0.069 -0.085 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 4404.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Whole body fat free mass (23101) EFO_0004995 4.09e-16 4.09 -16 0.485 0.391 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 138.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON COL6A1 Corneal resistance factor left (5265) EFO_0010067 2.4000000000000002e-30 2.4 -30 -1.05 -1.266 EUR HANCESTRO_0005 UK Biobank 450k GCST90079340 105697 105697 73.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MAMDC2 Corneal resistance factor left (5265) EFO_0010067 1.3e-13 1.3 -13 0.267 0.211 EUR HANCESTRO_0005 UK Biobank 450k GCST90079340 105697 105697 1117.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 5.57e-13 5.57 -13 3.313 4.589 EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 53.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Leg fat free mass right (23113) EFO_0004995 1e-13 10.0 -14 0.439 0.347 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 157.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 4.43e-25 4.43 -25 11.344 17.972 EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 36.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PDE3B Leg fat free mass right (23113) EFO_0004995 3.67e-12 3.67 -12 0.151 0.117 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 1200.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PAPPA2 Leg fat free mass right (23113) EFO_0004995 5.54e-14 5.54 -14 -0.081 -0.11 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 1621.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Leg fat free mass right (23113) EFO_0004995 3.81e-13 3.81 -13 0.37 0.291 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 213.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 7.64e-21 7.64 -21 16.639 29.971 EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 24.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Leg fat free mass right (23113) EFO_0004995 1.56e-12 1.56 -12 -0.039 -0.055 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 5845.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 ICD10 Z99.2: Dependence on renal dialysis EFO_0010690 2.4699999999999997e-40 2.47 -40 39.256 67.433 EUR HANCESTRO_0005 UK Biobank 450k GCST90081442 385553 1868 34.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACAN Leg fat free mass right (23113) EFO_0004995 1.89e-13 1.89 -13 -0.294 -0.401 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 115.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Leg fat free mass right (23113) EFO_0004995 5.76e-16 5.76 -16 -0.07 -0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 2643.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SPSB3 Leg fat free mass right (23113) EFO_0004995 3.36e-19 3.36 -19 -0.051 -0.065 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 6512.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Leg fat free mass right (23113) EFO_0004995 5.76e-16 5.76 -16 -0.07 -0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 2643.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON IGF1R Leg fat free mass right (23113) EFO_0004995 3.05e-14 3.05 -14 -0.086 -0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 1485.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Leg fat free mass right (23113) EFO_0004995 1.56e-12 1.56 -12 -0.039 -0.055 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 5845.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 ICD10 F17: Nicotine dependence EFO_0003768 1.09e-22 1.09 -22 2.328 2.757 EUR HANCESTRO_0005 UK Biobank 450k GCST90079798 370495 32828 205.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH2 ICD10 Z08.0: Follow-up examination after surgery for malignant neoplasm (Z08.0) EFO_0004542 2.92e-15 2.92 -15 17.535 35.706 EUR HANCESTRO_0005 UK Biobank 450k GCST90081197 387930 4711 17.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON KCNJ5 Pulse rate automated reading (102) EFO_0004326 2.26e-14 2.26 -14 0.33 0.263 EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 782.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON COL1A1 Non cancer illness code self reported - bone disorder/ICD10 M85 EFO_0004260 1.04e-13 1.04 -13 105.079 358.417 EUR HANCESTRO_0005 UK Biobank 450k GCST90077770 329052 841 9.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Pulse rate automated reading (102) EFO_0004326 1.5e-45 1.5 -45 0.239 0.21 EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 4262.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 ICD10 C77: Secondary and unspecified malignant neoplasm of lymph nodes MONDO_0024339 1.0100000000000001e-29 1.01 -29 4.571 5.947 EUR HANCESTRO_0005 UK Biobank 450k GCST90079620 387882 7019 91.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON POLE Mean reticulocyte volume (30260) EFO_0010701 1.14e-25 1.14 -25 0.435 0.367 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 683.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ATR Mean reticulocyte volume (30260) EFO_0010701 5.94e-13 5.94 -13 -0.178 -0.245 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 724.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 ICD10 I12: Hypertensive chronic kidney disease MONDO_0024633 1.38e-25 1.38 -25 24.864 45.412 EUR HANCESTRO_0005 UK Biobank 450k GCST90079964 387912 1660 25.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 Mean reticulocyte volume (30260) EFO_0010701 4.05e-12 4.05 -12 -0.135 -0.187 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1149.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 ICD10 I12: Hypertensive chronic kidney disease MONDO_0024633 1.38e-25 1.38 -25 24.864 45.412 EUR HANCESTRO_0005 UK Biobank 450k GCST90079964 387912 1660 25.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 ICD10 I12: Hypertensive chronic kidney disease MONDO_0024633 2.34e-26 2.34 -26 17.783 30.244 EUR HANCESTRO_0005 UK Biobank 450k GCST90079964 387912 1660 30.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON CAD Mean reticulocyte volume (30260) EFO_0010701 3.1600000000000003e-27 3.16 -27 0.188 0.159 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 3898.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BORA Mean reticulocyte volume (30260) EFO_0010701 4.82e-16 4.82 -16 -0.084 -0.111 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 4494.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC4A1 Mean reticulocyte volume (30260) EFO_0010701 2.63e-12 2.63 -12 -0.136 -0.19 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1140.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD1 ICD10 I12: Hypertensive chronic kidney disease MONDO_0024633 7.3e-29 7.3 -29 58.416 119.427 EUR HANCESTRO_0005 UK Biobank 450k GCST90079964 387912 1660 21.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON CHTF18 Mean reticulocyte volume (30260) EFO_0010701 3.99e-12 3.99 -12 0.314 0.245 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 673.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON RTEL1 Mean reticulocyte volume (30260) EFO_0010701 1.21e-13 1.21 -13 0.468 0.37 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 336.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON JAK2 Mean reticulocyte volume (30260) EFO_0010701 2.76e-20 2.76 -20 0.221 0.182 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 2137.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RHAG Mean reticulocyte volume (30260) EFO_0010701 1.26e-15 1.26 -15 -0.33 -0.437 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 285.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MIP ICD10 H26: Other cataract MONDO_0005129 4.6100000000000004e-33 4.61 -33 8.018 11.272 EUR HANCESTRO_0005 UK Biobank 450k GCST90079893 384442 20291 70.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MIP ICD10 H26: Other cataract MONDO_0005129 3.13e-13 3.13 -13 26.21 63.081 EUR HANCESTRO_0005 UK Biobank 450k GCST90079893 384442 20291 14.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCAT HDL cholesterol (30760) EFO_0004612 1.1500000000000001e-29 1.15 -29 -1.039 -1.256 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 57.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ABCA1 HDL cholesterol (30760) EFO_0004612 8.43e-232 8.43 -232 -0.316 -0.336 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 6386.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SCARB1 HDL cholesterol (30760) EFO_0004612 3.35e-117 3.35 -117 0.45 0.415 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 2078.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCA1 HDL cholesterol (30760) EFO_0004612 1.52e-120 1.52 -120 -1.17 -1.277 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 225.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LIPC HDL cholesterol (30760) EFO_0004612 1.1900000000000001e-27 1.19 -27 0.336 0.284 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 998.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CD36 HDL cholesterol (30760) EFO_0004612 5.06e-12 5.06 -12 0.174 0.136 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1758.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LIPC HDL cholesterol (30760) EFO_0004612 9.010000000000001e-32 9.01 -32 0.477 0.409 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 559.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ABCA1 HDL cholesterol (30760) EFO_0004612 9.949999999999999e-292 9.95 -292 -0.614 -0.648 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 2144.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NR1H3 HDL cholesterol (30760) EFO_0004612 7.26e-14 7.26 -14 0.256 0.203 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 922.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PDE3B HDL cholesterol (30760) EFO_0004612 1.97e-39 1.97 -39 0.381 0.331 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1066.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LIPG HDL cholesterol (30760) EFO_0004612 6.9e-27 6.9 -27 0.316 0.267 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1087.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Treatment or Medication Code - atorvastatin EFO_0007010 1.9799999999999997e-48 1.98 -48 3.465 4.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90078178 320758 16654 229.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Leg predicted mass right (23114) EFO_0004302 2.9e-14 2.9 -14 0.347 0.276 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 257.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN ICD10 I42.0: Dilated cardiomyopathy EFO_0000407 4.3900000000000005e-50 4.39 -50 8.086 10.649 EUR HANCESTRO_0005 UK Biobank 450k GCST90079998 387930 858 93.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Leg predicted mass right (23114) EFO_0004302 2.02e-12 2.02 -12 -0.039 -0.054 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 5845.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Leg predicted mass right (23114) EFO_0004302 2.83e-28 2.83 -28 0.246 0.209 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Leg predicted mass right (23114) EFO_0004302 1.79e-21 1.79 -21 -0.322 -0.406 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 185.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON MC4R Leg predicted mass right (23114) EFO_0004302 3e-15 3.0 -15 0.407 0.326 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 197.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN ICD10 I42.0: Dilated cardiomyopathy EFO_0000407 1.49e-54 1.49 -54 9.989 13.35 EUR HANCESTRO_0005 UK Biobank 450k GCST90079998 387930 858 88.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Leg predicted mass right (23114) EFO_0004302 6.23e-15 6.23 -15 -0.511 -0.682 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 44.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON TTN Leg predicted mass right (23114) EFO_0004302 5.62e-16 5.62 -16 -0.07 -0.092 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 2643.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Leg predicted mass right (23114) EFO_0004302 2.9e-14 2.9 -14 0.347 0.276 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 257.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Leg predicted mass right (23114) EFO_0004302 2.96e-17 2.96 -17 -0.057 -0.075 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 4404.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Leg predicted mass right (23114) EFO_0004302 2.68e-12 2.68 -12 0.542 0.423 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 92.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PDE3B Leg predicted mass right (23114) EFO_0004302 2.9e-14 2.9 -14 0.122 0.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 2067.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 I42.0: Dilated cardiomyopathy EFO_0000407 4.3900000000000005e-50 4.39 -50 8.086 10.649 EUR HANCESTRO_0005 UK Biobank 450k GCST90079998 387930 858 93.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MYO6 Hearing aid user - Yes (3393) EFO_0009720 2.73e-23 2.73 -23 2.402 2.855 EUR HANCESTRO_0005 UK Biobank 450k GCST90079053 281979 15741 190.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ASXL1 Past tobacco smoking - Smoked on most or all days (1249) EFO_0005671 4.71e-15 4.71 -15 1.686 1.922 EUR HANCESTRO_0005 UK Biobank 450k GCST90077585 397089 109016 461.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Treatment or Medication Code - simvastatin EFO_0007010 2.89e-13 2.89 -13 1.642 1.876 EUR HANCESTRO_0005 UK Biobank 450k GCST90078009 320758 51781 340.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON WNT1 Heel Broadband ultrasound attenuation direct entry (3144) EFO_0004514 1.64e-14 1.64 -14 -0.333 -0.447 EUR HANCESTRO_0005 UK Biobank 450k GCST90079049 246304 246304 227.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MEPE Heel Broadband ultrasound attenuation direct entry (3144) EFO_0004514 4.04e-34 4.04 -34 -0.286 -0.34 EUR HANCESTRO_0005 UK Biobank 450k GCST90079049 246304 246304 985.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MSH6 Type of Cancer: Malignant neoplasm of endometrium (40006) MONDO_0011962 5.33e-24 5.33 -24 6.86 9.968 EUR HANCESTRO_0005 UK Biobank 450k GCST90079109 41005 1536 54.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MEPE Heel Broadband ultrasound attenuation direct entry (3144) EFO_0004514 2.15e-12 2.15 -12 -0.185 -0.257 EUR HANCESTRO_0005 UK Biobank 450k GCST90079049 246304 246304 576.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH6 Type of Cancer: Malignant neoplasm of endometrium (40006) MONDO_0011962 8.82e-16 8.82 -16 5.978 9.243 EUR HANCESTRO_0005 UK Biobank 450k GCST90079109 41005 1536 38.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LPL Triglycerides (30870) EFO_0004530 2.3800000000000002e-27 2.38 -27 0.469 0.397 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 610.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOC3 Triglycerides (30870) EFO_0004530 2.2300000000000002e-307 2.23 -307 -1.126 -1.164 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 2155.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PLIN1 Triglycerides (30870) EFO_0004530 8.08e-14 8.08 -14 -0.171 -0.232 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 834.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH6 ICD10 C54.1: Malignant neoplasm of endometrium MONDO_0011962 1.82e-27 1.82 -27 20.227 34.806 EUR HANCESTRO_0005 UK Biobank 450k GCST90079607 228786 1469 30.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PDE3B Triglycerides (30870) EFO_0004530 3.12e-43 3.12 -43 -0.316 -0.368 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 1159.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB Triglycerides (30870) EFO_0004530 4.4399999999999997e-94 4.44 -94 -0.941 -1.04 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 318.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ANGPTL3 Triglycerides (30870) EFO_0004530 3.79e-96 3.79 -96 -0.575 -0.634 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 867.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 ICD10 D69.6: Thrombocytopenia, unspecified HP_0001873 2.34e-12 2.34 -12 4.113 6.106 EUR HANCESTRO_0005 UK Biobank 450k GCST90079714 387579 1788 38.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON KDM5B Mean time to correctly identify matches (20023) EFO_0008354 1.15e-14 1.15 -14 0.571 0.455 EUR HANCESTRO_0005 UK Biobank 450k GCST90078252 427920 427920 242.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PCSK9 Non cancer illness code self reported - high cholesterol HP_0003124 2.25e-18 2.25 -18 0.228 0.318 EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 24.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON JAK2 ICD10 R16: Hepatomegaly and splenomegaly, not elsewhere classified HP_0001744 1.32e-17 1.32 -17 7.004 10.947 EUR HANCESTRO_0005 UK Biobank 450k GCST90080805 387634 864 31.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR Cholesterol lowering medication (6177) EFO_0007010 7.8e-20 7.8 -20 3.421 4.457 EUR HANCESTRO_0005 UK Biobank 450k GCST90079486 69473 49091 374.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 Z83: Family history of other specific disorders EFO_0000493 4.36e-15 4.36 -15 18.592 38.592 EUR HANCESTRO_0005 UK Biobank 450k GCST90081343 376753 4125 16.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APC ICD10 Z83: Family history of other specific disorders EFO_0000493 4.36e-15 4.36 -15 18.592 38.592 EUR HANCESTRO_0005 UK Biobank 450k GCST90081343 376753 4125 16.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CST3 Cystatin C (30720) EFO_0004617 2.2300000000000002e-307 2.23 -307 -2.524 -2.639 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 211.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD2 Cystatin C (30720) EFO_0004617 2.67e-17 2.67 -17 0.836 0.678 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 105.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD1 Cystatin C (30720) EFO_0004617 3.04e-18 3.04 -18 0.402 0.328 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 476.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON MLH1 ICD10 C18: Malignant neoplasm of colon EFO_1001950 1.99e-16 1.99 -16 106.237 323.049 EUR HANCESTRO_0005 UK Biobank 450k GCST90079581 387657 3899 10.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON CLDN10 Cystatin C (30720) EFO_0004617 6.5e-25 6.5 -25 1.001 0.841 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 101.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Cystatin C (30720) EFO_0004617 3.81e-17 3.81 -17 0.204 0.165 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 1763.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 I50.1: Left ventricular failure, unspecified EFO_0003144 1.85e-15 1.85 -15 2.382 2.95 EUR HANCESTRO_0005 UK Biobank 450k GCST90080021 387725 4762 115.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 Illnesses of siblings - Breast cancer (20111) EFO_0009640 6.9700000000000005e-37 6.97 -37 3.654 4.464 EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 154.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APC ICD10 Z86.0: Personal history of in-situ and benign neoplasms and neoplasms of uncertain behavior EFO_0000616 1.79e-18 1.79 -18 16.465 30.794 EUR HANCESTRO_0005 UK Biobank 450k GCST90081355 387929 6926 22.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 ICD10 C92: Myeloid leukemia EFO_0002427 4.540000000000001e-21 4.54 -21 9.853 15.86 EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 32.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TSHR Treatment or Medication Code - levothyroxine sodium EFO_0007010 3.45e-14 3.45 -14 3.037 4.048 EUR HANCESTRO_0005 UK Biobank 450k GCST90078224 320758 19017 75.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 ICD10 C92: Myeloid leukemia EFO_0002427 3.2900000000000002e-21 3.29 -21 9.96 16.04 EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 32.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 ICD10 C92: Myeloid leukemia EFO_0002427 3.2900000000000002e-21 3.29 -21 9.96 16.04 EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 32.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH6 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 8.86e-17 8.86 -17 3.939 5.44 EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 66.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 5.57e-23 5.57 -23 4.39 5.888 EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 74.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MSH6 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 8.99e-16 8.99 -16 5.282 7.925 EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 46.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON FLG AtopicDermatitis (RGC) EFO_0000274 8.8e-50 8.8 -50 1.825 1.976 EUR HANCESTRO_0005 UK Biobank 450k GCST90081462 276670 15131 822.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 7.31e-26 7.31 -26 4.743 6.34 EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 86.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MLH1 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 1.79e-11 1.79 -11 14.879 32.692 EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 16.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ATM ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 1.28e-15 1.28 -15 2.652 3.369 EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 96.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APEH Red blood cell erythrocyte count (30010) EFO_0004305 8.46e-16 8.46 -16 -0.174 -0.23 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 754.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SF3B1 Red blood cell erythrocyte count (30010) EFO_0004305 1.05e-31 1.05 -31 -0.386 -0.463 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 394.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 Illnesses of mother - Breast cancer (20110) EFO_0009640 5.86e-19 5.86 -19 2.067 2.426 EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 212.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 Illnesses of mother - Breast cancer (20110) EFO_0009640 7.26e-21 7.26 -21 2.343 2.8 EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 178.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 Red blood cell erythrocyte count (30010) EFO_0004305 3.64e-12 3.64 -12 -0.1 -0.139 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 1532.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.8000000000000002e-158 1.8 -158 2.277 2.122 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 98.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.59e-14 1.59 -14 2.235 1.781 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON EGLN1 Red blood cell erythrocyte count (30010) EFO_0004305 4.18e-14 4.18 -14 0.862 0.684 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 75.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PTPN14 ICD10 C44.3: Other and unspecified malignant neoplasm of skin of other and unspecified parts of face EFO_0004198 2.09e-12 2.09 -12 9.788 18.491 EUR HANCESTRO_0005 UK Biobank 450k GCST90079596 387930 7572 19.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.8000000000000002e-158 1.8 -158 2.277 2.122 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 98.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON RTEL1 Red blood cell erythrocyte count (30010) EFO_0004305 4.95e-14 4.95 -14 -0.236 -0.32 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 339.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.63e-13 1.63 -13 2.499 1.975 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 14.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC4A1 Red blood cell erythrocyte count (30010) EFO_0004305 2.12e-12 2.12 -12 -0.777 -1.077 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 26.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON ACO1 Red blood cell erythrocyte count (30010) EFO_0004305 1.54e-16 1.54 -16 0.178 0.144 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 2032.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CALR Red blood cell erythrocyte count (30010) EFO_0004305 8.28e-24 8.28 -24 -0.753 -0.935 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 71.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 5.6e-106 5.6 -106 2.217 2.035 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CHEK2 Age at menopause last menstrual period (3581) EFO_0004704 2.4099999999999998e-30 2.41 -30 0.451 0.385 EUR HANCESTRO_0005 UK Biobank 450k GCST90079064 140172 140172 796.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GGT1 Gamma glutamyltransferase (30730) EFO_0004532 9.19e-117 9.19 -117 -0.898 -0.982 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 416.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON UPB1 Gamma glutamyltransferase (30730) EFO_0004532 8.3e-16 8.3 -16 0.155 0.125 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 3183.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TNFRSF10B Gamma glutamyltransferase (30730) EFO_0004532 4.44e-12 4.44 -12 0.224 0.174 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1165.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SIGLEC1 Gamma glutamyltransferase (30730) EFO_0004532 1.2200000000000001e-21 1.22 -21 0.127 0.105 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 6125.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TNFRSF10B Gamma glutamyltransferase (30730) EFO_0004532 4.44e-12 4.44 -12 0.224 0.174 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1165.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 ICD10 N18.9: Chronic kidney disease, unspecified EFO_0003884 1.1e-22 1.1 -22 4.733 6.458 EUR HANCESTRO_0005 UK Biobank 450k GCST90080583 387930 3916 65.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON A1CF Gamma glutamyltransferase (30730) EFO_0004532 2.4699999999999997e-23 2.47 -23 0.103 0.086 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 9952.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Body mass index BMI (23104) EFO_0004340 2.57e-16 2.57 -16 0.67 0.541 EUR HANCESTRO_0005 UK Biobank 450k GCST90078907 423694 423694 197.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB High light scatter reticulocyte count (30300) EFO_0007986 2.49e-15 2.49 -15 0.954 0.765 SAS HANCESTRO_0006 UK Biobank 450k 9690 9690 99.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON EIF2AK1 High light scatter reticulocyte count (30300) EFO_0007986 3.82e-15 3.82 -15 0.286 0.229 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1015.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RNF10 High light scatter reticulocyte count (30300) EFO_0007986 2.79e-12 2.79 -12 0.899 0.702 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 85.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 High light scatter reticulocyte count (30300) EFO_0007986 4.02e-20 4.02 -20 0.246 0.203 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1767.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RNF10 High light scatter reticulocyte count (30300) EFO_0007986 1.06e-15 1.06 -15 1.193 0.959 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 60.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 High light scatter reticulocyte count (30300) EFO_0007986 2.37e-16 2.37 -16 0.243 0.196 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1508.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON AMPD3 High light scatter reticulocyte count (30300) EFO_0007986 3.94e-17 3.94 -17 -0.056 -0.072 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 11788.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PDE3B High light scatter reticulocyte count (30300) EFO_0007986 1.47e-15 1.47 -15 -0.125 -0.165 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 2011.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IQGAP2 High light scatter reticulocyte count (30300) EFO_0007986 2.56e-14 2.56 -14 0.238 0.189 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1400.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON JAK2 High light scatter reticulocyte count (30300) EFO_0007986 1.51e-15 1.51 -15 0.198 0.159 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 2136.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SH2B3 High light scatter reticulocyte count (30300) EFO_0007986 1.3e-11 1.3 -11 0.18 0.14 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 2024.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Forced vital capacity FVC (3062) EFO_0004312 1.02e-13 1.02 -13 -0.074 -0.1 EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 2481.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ATM DD Cancer - Yes (2453) EFO_0000311 4.94e-16 4.94 -16 1.961 2.308 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 206.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ATM DD Cancer - Yes (2453) EFO_0000311 3.96e-15 3.96 -15 1.97 2.333 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 191.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 DD Cancer - Yes (2453) EFO_0000311 6.97e-17 6.97 -17 3.726 5.074 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 70.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SMAD6 ICD10 M50: Cervical disc disorders EFO_0009537 2.48e-12 2.48 -12 9.558 17.975 EUR HANCESTRO_0005 UK Biobank 450k GCST90080494 386602 2103 18.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TYR Ease of skin tanning - Get very tanned (1727) EFO_0007009 3.2e-15 3.2 -15 0.427 0.528 EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 84.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Leg fat mass left (23116) EFO_0005409 1.3500000000000002e-26 1.35 -26 0.304 0.257 EUR HANCESTRO_0005 UK Biobank 450k GCST90078919 423640 423640 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Leg fat mass left (23116) EFO_0005409 2.51e-24 2.51 -24 0.258 0.217 EUR HANCESTRO_0005 UK Biobank 450k GCST90078919 423640 423640 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SCUBE3 Seated height (51) EFO_0011011 4.53e-19 4.53 -19 -0.218 -0.28 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 526.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PDE3B Seated height (51) EFO_0011011 1.05e-13 1.05 -13 0.193 0.153 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 1214.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GRAMD2 Seated height (51) EFO_0011011 2.17e-11 2.17 -11 0.062 0.048 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 10066.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PIEZO1 Seated height (51) EFO_0011011 1.04e-13 1.04 -13 -0.057 -0.077 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 4765.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ASXL1 Smoking status - Current (20116) EFO_0006527 2.5e-15 2.5 -15 1.467 1.614 EUR HANCESTRO_0005 UK Biobank 450k GCST90078302 429255 45239 566.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IRS1 Seated height (51) EFO_0011011 2.48e-12 2.48 -12 -0.301 -0.417 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 145.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON NPR2 Seated height (51) EFO_0011011 5.78e-15 5.78 -15 -0.13 -0.174 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 1036.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ATG4C SHBG (30830) EFO_0004696 1.26e-14 1.26 -14 0.099 0.079 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 6555.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Seated height (51) EFO_0011011 2.64e-25 2.64 -25 -0.561 -0.691 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 116.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PDE3B Seated height (51) EFO_0011011 1.05e-13 1.05 -13 0.193 0.153 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 1214.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Seated height (51) EFO_0011011 8.32e-13 8.32 -13 0.403 0.316 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 263.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MLH1 Type of Cancer: Malignant neoplasm of cecum (40006) EFO_0009255 1.61e-11 1.61 -11 15.727 35.056 EUR HANCESTRO_0005 UK Biobank 450k GCST90079080 74230 648 13.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Hand grip strength right (47) EFO_0006941 1.34e-15 1.34 -15 -0.078 -0.104 EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 2692.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ADAMTS3 Impedance of whole body (23106) HP_0000924 1.68e-18 1.68 -18 -0.126 -0.162 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 1455.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PAPPA2 Trunk predicted mass (23130) EFO_0004324 3.19e-14 3.19 -14 -0.071 -0.096 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 2007.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON THBS4 6mm strong meridian left (5134) EFO_0004731 3.71e-20 3.71 -20 -0.233 -0.296 EUR HANCESTRO_0005 UK Biobank 450k GCST90079300 89735 89735 772.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON UBR2 Leg fat mass right (23112) EFO_0005409 7.99e-12 7.99 -12 0.553 0.43 EUR HANCESTRO_0005 UK Biobank 450k GCST90078915 423659 423659 141.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANTXR1 Impedance of whole body (23106) HP_0000924 2.37e-12 2.37 -12 -0.094 -0.131 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 1439.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Trunk predicted mass (23130) EFO_0004324 3.77e-24 3.77 -24 -0.07 -0.087 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 4400.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Trunk predicted mass (23130) EFO_0004324 7.54e-17 7.54 -17 0.493 0.399 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 138.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACAN Trunk predicted mass (23130) EFO_0004324 2.18e-19 2.18 -19 -0.369 -0.472 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 115.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Trunk predicted mass (23130) EFO_0004324 3.08e-16 3.08 -16 0.455 0.367 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 157.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Trunk predicted mass (23130) EFO_0004324 9.49e-21 9.49 -21 0.208 0.172 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 936.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SCUBE3 Trunk predicted mass (23130) EFO_0004324 2.13e-11 2.13 -11 -0.117 -0.166 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 518.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Impedance of whole body (23106) HP_0000924 6.12e-29 6.12 -29 0.181 0.154 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 2644.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Impedance of whole body (23106) HP_0000924 6.12e-29 6.12 -29 0.181 0.154 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 2644.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Impedance of whole body (23106) HP_0000924 4.99e-26 4.99 -26 0.134 0.113 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 4406.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADAMTS3 Impedance of whole body (23106) HP_0000924 1.47e-16 1.47 -16 -0.179 -0.235 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 614.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLTM Impedance of whole body (23106) HP_0000924 5.13e-12 5.13 -12 -0.35 -0.488 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 99.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GFPT2 Trunk predicted mass (23130) EFO_0004324 1.59e-11 1.59 -11 -0.05 -0.07 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 2921.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GFPT2 Trunk predicted mass (23130) EFO_0004324 1.59e-11 1.59 -11 -0.05 -0.07 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 2921.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CRP C reactive protein (30710) EFO_0004458 9.23e-13 9.23 -13 -0.475 -0.655 SAS HANCESTRO_0006 UK Biobank 450k 9815 9815 101.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 6mm strong meridian left (5134) EFO_0004731 8.79e-19 8.79 -19 0.987 0.808 EUR HANCESTRO_0005 UK Biobank 450k GCST90079300 89735 89735 95.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCM2 Calcium (30680) EFO_0004838 1.11e-17 1.11 -17 0.27 0.22 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 1383.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FCGRT Calcium (30680) EFO_0004838 5.59e-12 5.59 -12 -0.546 -0.764 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 74.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON DGKD Calcium (30680) EFO_0004838 3.4e-14 3.4 -14 -0.542 -0.731 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 98.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TYR Ease of skin tanning - Never tan only burn (1727) EFO_0007009 2.76e-62 2.76 -62 2.182 2.392 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 821.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON OCA2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 2.95e-23 2.95 -23 3.777 4.91 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 122.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TYR Ease of skin tanning - Never tan only burn (1727) EFO_0007009 2.91e-19 2.91 -19 2.607 3.215 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 162.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON OCA2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 2.95e-23 2.95 -23 3.777 4.91 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 122.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON FCGRT Calcium (30680) EFO_0004838 5.59e-12 5.59 -12 -0.546 -0.764 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 74.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 Z92.6: Personal history of chemotherapy for neoplastic disease EFO_0000352 6.75e-13 6.75 -13 4.935 7.629 EUR HANCESTRO_0005 UK Biobank 450k GCST90081409 387930 4641 33.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TYRP1 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 2.09e-11 2.09 -11 2.242 2.84 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 127.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TYR Ease of skin tanning - Never tan only burn (1727) EFO_0007009 1.75e-22 1.75 -22 2.338 2.773 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 238.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC1R Ease of skin tanning - Never tan only burn (1727) EFO_0007009 2.02e-249 2.02 -249 2.772 2.941 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 2060.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ANKRD12 Calcium (30680) EFO_0004838 6.93e-13 6.93 -13 -0.297 -0.408 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 281.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ABCB11 Alkaline phosphatase (30610) EFO_0004533 1.06e-23 1.06 -23 0.706 0.591 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 224.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 C50: Malignant neoplasm of breast EFO_0003869 1.14e-20 1.14 -20 3.327 4.283 EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 97.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CHEK2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 3.84e-23 3.84 -23 1.879 2.128 EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 350.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ALDH5A1 Alkaline phosphatase (30610) EFO_0004533 1.51e-24 1.51 -24 -0.091 -0.113 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 6485.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ALPL Alkaline phosphatase (30610) EFO_0004533 1.01e-11 1.01 -11 -1.211 -1.7 EAS HANCESTRO_0009 UK Biobank 450k 2109 2109 12.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 C50: Malignant neoplasm of breast EFO_0003869 8.33e-19 8.33 -19 2.968 3.777 EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 103.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GPLD1 Alkaline phosphatase (30610) EFO_0004533 2.2300000000000002e-307 2.23 -307 -0.77 -0.796 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 4217.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ALPL Alkaline phosphatase (30610) EFO_0004533 2.2300000000000002e-307 2.23 -307 -2.154 -2.262 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 255.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ATM ICD10 C50: Malignant neoplasm of breast EFO_0003869 1.28e-11 1.28 -11 1.764 2.079 EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 188.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GPLD1 Alkaline phosphatase (30610) EFO_0004533 8.34e-265 8.34 -265 -0.691 -0.733 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 1773.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GBGT1 Alkaline phosphatase (30610) EFO_0004533 4.57e-17 4.57 -17 -0.062 -0.081 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 8930.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ENG ICD10 I78: Diseases of capillaries EFO_0004264 9.640000000000001e-27 9.64 -27 212.772 567.713 EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 14.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACVRL1 ICD10 I78: Diseases of capillaries EFO_0004264 2.62e-19 2.62 -19 168.599 516.038 EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 10.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ACVRL1 ICD10 I78: Diseases of capillaries EFO_0004264 7.09e-22 7.09 -22 75.3 181.749 EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 14.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ENG ICD10 I78: Diseases of capillaries EFO_0004264 2.57e-18 2.57 -18 407.834 1572.64 EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 8.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON ENG ICD10 I78: Diseases of capillaries EFO_0004264 5.78e-17 5.78 -17 26.986 58.381 EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 15.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ENG ICD10 I78: Diseases of capillaries EFO_0004264 1.32e-20 1.32 -20 60.077 142.331 EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 14.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PDE3B Hip circumference (49) EFO_0005093 4.1e-16 4.1 -16 0.273 0.22 EUR HANCESTRO_0005 UK Biobank 450k GCST90079253 430214 430214 1213.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 ICD10 D63.165.8: Anemia in chronic kidney disease EFO_0004272 4.84e-13 4.84 -13 36.773 97.712 EUR HANCESTRO_0005 UK Biobank 450k GCST90079710 387885 936 10.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON TET2 Reticulocyte percentage (30240) EFO_0010700 7.12e-22 7.12 -22 0.282 0.234 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1495.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON RHAG Reticulocyte percentage (30240) EFO_0010700 5e-13 5.0 -13 0.662 0.521 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 171.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SPHK1 Reticulocyte percentage (30240) EFO_0010700 1.7600000000000002e-26 1.76 -26 -0.106 -0.13 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 5990.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON EPB41 Reticulocyte percentage (30240) EFO_0010700 3.53e-22 3.53 -22 0.824 0.685 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 179.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Reticulocyte percentage (30240) EFO_0010700 1.49e-12 1.49 -12 0.321 0.252 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 701.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON RIOK3 Reticulocyte percentage (30240) EFO_0010700 6.48e-14 6.48 -14 0.117 0.092 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 5836.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EPB41 Reticulocyte percentage (30240) EFO_0010700 3.53e-22 3.53 -22 0.824 0.685 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 179.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPTA1 Reticulocyte percentage (30240) EFO_0010700 2.9700000000000002e-58 2.97 -58 0.894 0.797 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 365.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RNF10 Reticulocyte percentage (30240) EFO_0010700 1.12e-12 1.12 -12 1.102 0.864 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 60.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 Reticulocyte percentage (30240) EFO_0010700 1.18e-21 1.18 -21 0.28 0.232 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1508.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON IQGAP2 Reticulocyte percentage (30240) EFO_0010700 2.06e-17 2.06 -17 0.102 0.083 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 9500.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SPTA1 Reticulocyte percentage (30240) EFO_0010700 2.15e-14 2.15 -14 0.985 0.784 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 85.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON SPHK1 Reticulocyte percentage (30240) EFO_0010700 1.2100000000000001e-29 1.21 -29 -0.111 -0.134 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 6367.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL7 3mm strong meridian left (5135) EFO_0004731 1.26e-12 1.26 -12 0.19 0.149 EUR HANCESTRO_0005 UK Biobank 450k GCST90079301 103531 103531 1843.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 ICD10 D63.165.8: Anemia in chronic kidney disease EFO_0004272 1.93e-13 1.93 -13 24.746 58.201 EUR HANCESTRO_0005 UK Biobank 450k GCST90079710 387885 936 12.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 9.71e-13 9.71 -13 33.813 88.951 EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 10.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON MLH1 Type of Cancer: Malignant neoplasm of colon (40006) EFO_1001950 8.33e-19 8.33 -19 9.795 16.232 EUR HANCESTRO_0005 UK Biobank 450k GCST90079082 74230 3309 33.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Impedance of leg right (23107) HP_0000924 2.46e-17 2.46 -17 0.133 0.108 EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 4408.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Impedance of leg right (23107) HP_0000924 2.46e-17 2.46 -17 0.133 0.108 EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 4408.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Impedance of leg right (23107) HP_0000924 3.3899999999999996e-24 3.39 -24 -0.198 -0.245 EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EGLN1 Haematocrit percentage (30030) EFO_0004348 1.72e-16 1.72 -16 0.909 0.735 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 75.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON FLCN ICD10 J93: Pneumothorax and air leak MONDO_0002076 3.42e-17 3.42 -17 18.78 37.136 EUR HANCESTRO_0005 UK Biobank 450k GCST90080153 387375 1190 18.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Haematocrit percentage (30030) EFO_0004348 3.28e-15 3.28 -15 -0.117 -0.156 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1532.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PFKM Haematocrit percentage (30030) EFO_0004348 4.83e-21 4.83 -21 0.207 0.171 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1808.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Haematocrit percentage (30030) EFO_0004348 1.64e-27 1.64 -27 -0.764 -0.932 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Haematocrit percentage (30030) EFO_0004348 1.64e-27 1.64 -27 -0.764 -0.932 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APC ICD10 Z93: Artificial opening status EFO_0002571 3.73e-19 3.73 -19 31.753 67.742 EUR HANCESTRO_0005 UK Biobank 450k GCST90081416 387863 3783 17.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON INSC Heel bone mineral density BMD T score automated (78) EFO_0009270 7.44e-15 7.44 -15 0.1 0.08 EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 7653.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LRP5 Heel bone mineral density BMD T score automated (78) EFO_0009270 9.82e-14 9.82 -14 -0.443 -0.601 EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 120.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LRP5 Heel bone mineral density BMD T score automated (78) EFO_0009270 9.82e-14 9.82 -14 -0.443 -0.601 EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 120.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON WNT1 Heel bone mineral density BMD T score automated (78) EFO_0009270 4.26e-15 4.26 -15 -0.338 -0.451 EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 236.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 Z93: Artificial opening status EFO_0002571 4.01e-22 4.01 -22 27.213 53.156 EUR HANCESTRO_0005 UK Biobank 450k GCST90081416 387863 3783 21.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MEPE Heel bone mineral density BMD T score automated (78) EFO_0009270 3.4599999999999998e-34 3.46 -34 -0.271 -0.323 EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 1108.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APOB LDL direct (30780) EFO_0004611 2.2300000000000002e-307 2.23 -307 -1.64 -1.709 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 699.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR LDL direct (30780) EFO_0004611 8.28e-76 8.28 -76 0.46 0.415 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 1784.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APOB LDL direct (30780) EFO_0004611 2.2300000000000002e-307 2.23 -307 -1.64 -1.709 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 699.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PCSK9 LDL direct (30780) EFO_0004611 1.76e-184 1.76 -184 -0.733 -0.786 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 1184.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ALB LDL direct (30780) EFO_0004611 3.28e-14 3.28 -14 0.73 0.58 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 147.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PCSK9 LDL direct (30780) EFO_0004611 2.34e-39 2.34 -39 -0.715 -0.84 AFR HANCESTRO_0010 UK Biobank 450k 8527 8527 225.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APOB LDL direct (30780) EFO_0004611 1.34e-215 1.34 -215 -1.53 -1.632 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 320.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LDLR Treatment or Medication Code - ezetimibe EFO_0007010 1.4399999999999997e-23 1.44 -23 15.813 27.157 EUR HANCESTRO_0005 UK Biobank 450k GCST90078226 320758 2675 29.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ZNF229 LDL direct (30780) EFO_0004611 2.9e-28 2.9 -28 -0.12 -0.145 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 5193.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON RRBP1 LDL direct (30780) EFO_0004611 5.51e-12 5.51 -12 -0.477 -0.666 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 92.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON BRCA1 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 8.77e-28 8.77 -28 8.802 13.004 EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 48.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MSH6 Type of Cancer: Malignant neoplasm of corpus uteri (40006) EFO_0007532 4.9199999999999996e-30 4.92 -30 21.419 36.298 EUR HANCESTRO_0005 UK Biobank 450k GCST90079110 41005 1612 37.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON FLG Vitamin D (30890) EFO_0004631 4.92e-15 4.92 -15 0.158 0.126 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 3485.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON NF1 Non cancer illness code self reported - other neurological problem/ICD10 G98 EFO_0000618 1.5899999999999999e-24 1.59 -24 6.465 9.247 EUR HANCESTRO_0005 UK Biobank 450k GCST90077843 329052 1701 52.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR ICD10 I20: Angina pectoris EFO_0003913 4.51e-16 4.51 -16 2.069 2.466 EUR HANCESTRO_0005 UK Biobank 450k GCST90079968 386565 22332 178.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH6 Type of Cancer: Malignant neoplasm of corpus uteri (40006) EFO_0007532 2.02e-15 2.02 -15 7.99 13.344 EUR HANCESTRO_0005 UK Biobank 450k GCST90079110 41005 1612 30.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 5.96e-63 5.96 -63 13.388 18.137 EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 88.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB Vitamin D (30890) EFO_0004631 1.4899999999999998e-30 1.49 -30 0.72 0.615 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 314.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON CYP2R1 Vitamin D (30890) EFO_0004631 2.24e-16 2.24 -16 -0.205 -0.269 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 849.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R TAG Severe Obesity (RGC) EFO_0001073 6.12e-18 6.12 -18 4.087 5.627 EUR HANCESTRO_0005 UK Biobank 450k GCST90081528 150526 7973 66.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TECTA hearing loss (RGC) EFO_0004238 1.07e-16 1.07 -16 1.352 1.452 EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 1400.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TECTA hearing loss (RGC) EFO_0004238 9.33e-14 9.33 -14 1.947 2.319 EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 271.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MYO6 hearing loss (RGC) EFO_0004238 6.39e-20 6.39 -20 5.805 8.465 EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 93.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SMAD6 6mm weak meridian left (5097) EFO_0004731 1.27e-17 1.27 -17 0.516 0.42 EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 331.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CYP1A2 Tea intake (1488) EFO_0010091 6.59e-38 6.59 -38 -0.158 -0.186 EUR HANCESTRO_0005 UK Biobank 450k GCST90077587 417958 417958 4347.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 1.9000000000000002e-36 1.9 -36 7.115 9.652 EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 76.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TBC1D2B Albumin (30600) EFO_0004535 1.35e-14 1.35 -14 -0.483 -0.648 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 125.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON IQGAP2 Albumin (30600) EFO_0004535 6.73e-17 6.73 -17 -0.168 -0.219 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 1292.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LRP5 Heel bone mineral density BMD (3148) EFO_0009270 6.71e-14 6.71 -14 -0.447 -0.605 EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 120.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCA6 Albumin (30600) EFO_0004535 8.24e-13 8.24 -13 -0.105 -0.144 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 2206.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON STAB1 Albumin (30600) EFO_0004535 1.23e-13 1.23 -13 0.209 0.166 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 1780.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MEPE Heel bone mineral density BMD (3148) EFO_0009270 1.42e-34 1.42 -34 -0.273 -0.325 EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 1108.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LRP5 Heel bone mineral density BMD (3148) EFO_0009270 6.71e-14 6.71 -14 -0.447 -0.605 EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 120.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON FCGRT Albumin (30600) EFO_0004535 2.67e-35 2.67 -35 -1.598 -1.898 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 38.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Leg fat free mass left (23117) EFO_0004995 8.44e-27 8.44 -27 0.136 0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 3011.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Leg fat free mass left (23117) EFO_0004995 1.74e-31 1.74 -31 0.232 0.198 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Leg fat free mass left (23117) EFO_0004995 2.63e-13 2.63 -13 -0.062 -0.084 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 2642.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Leg fat free mass left (23117) EFO_0004995 1.22e-13 1.22 -13 0.344 0.272 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 257.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Leg fat free mass left (23117) EFO_0004995 2.92e-13 2.92 -13 0.568 0.447 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 92.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PDE3B Leg fat free mass left (23117) EFO_0004995 1.62e-11 1.62 -11 0.148 0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 1200.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SRSF2 ICD10 A41: Other sepsis HP_0100806 6.56e-16 6.56 -16 8.388 14.053 EUR HANCESTRO_0005 UK Biobank 450k GCST90079546 387463 5918 28.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MFSD2B High light scatter reticulocyte percentage (30290) EFO_0010700 1.64e-28 1.64 -28 -0.119 -0.145 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 5756.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GCK Glucose (30740) EFO_0004468 2.18e-15 2.18 -15 1.389 1.114 EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 47.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PIEZO1 High light scatter reticulocyte percentage (30290) EFO_0010700 4.27e-17 4.27 -17 0.064 0.052 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 23926.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SPTB ICD10 D73: Diseases of spleen EFO_0009002 1.15e-17 1.15 -17 176.493 577.118 EUR HANCESTRO_0005 UK Biobank 450k GCST90079718 387896 692 9.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON PDE3B High light scatter reticulocyte percentage (30290) EFO_0010700 1.59e-13 1.59 -13 -0.113 -0.154 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 2011.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EPB41 High light scatter reticulocyte percentage (30290) EFO_0010700 2.1e-12 2.1 -12 0.784 0.613 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 116.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON RHAG High light scatter reticulocyte percentage (30290) EFO_0010700 1.13e-16 1.13 -16 0.264 0.213 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1330.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EPB41 High light scatter reticulocyte percentage (30290) EFO_0010700 2.44e-14 2.44 -14 0.675 0.537 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 178.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CYB561D2 High light scatter reticulocyte percentage (30290) EFO_0010700 2.15e-11 2.15 -11 0.136 0.105 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 3537.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC4A1 High light scatter reticulocyte percentage (30290) EFO_0010700 1.86e-14 1.86 -14 0.475 0.378 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 359.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SPTA1 High light scatter reticulocyte percentage (30290) EFO_0010700 1.0600000000000001e-35 1.06 -35 0.71 0.613 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 365.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GIGYF1 Glucose (30740) EFO_0004468 1.39e-14 1.39 -14 0.775 0.618 EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 144.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB High light scatter reticulocyte percentage (30290) EFO_0010700 5.38e-13 5.38 -13 0.876 0.689 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 96.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 High light scatter reticulocyte percentage (30290) EFO_0010700 2.0900000000000002e-21 2.09 -21 0.278 0.23 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1495.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON FERMT3 High light scatter reticulocyte percentage (30290) EFO_0010700 6.35e-13 6.35 -13 -0.051 -0.07 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 9731.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON G6PC2 Glucose (30740) EFO_0004468 9.559999999999999e-172 9.56 -172 -0.243 -0.261 EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 10938.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANK1 ICD10 D73: Diseases of spleen EFO_0009002 1.08e-11 1.08 -11 110.796 430.723 EUR HANCESTRO_0005 UK Biobank 450k GCST90079718 387896 692 6.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON SLC22A7 Creatinine (30700) EFO_0004518 4.18e-35 4.18 -35 0.275 0.237 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 1556.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC34A3 Creatinine (30700) EFO_0004518 1.1699999999999999e-34 1.17 -34 0.222 0.191 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 2361.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC7A9 Creatinine (30700) EFO_0004518 1.84e-18 1.84 -18 -0.09 -0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 3310.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC6A19 Creatinine (30700) EFO_0004518 1.01e-14 1.01 -14 -0.074 -0.098 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 3558.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 3.73e-29 3.73 -29 1.954 2.197 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 397.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON INSC Heel broadband ultrasound attenuation right (4120) EFO_0004514 4.62e-14 4.62 -14 0.117 0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90079155 166349 166349 5126.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 9.36e-44 9.36 -44 3.148 3.702 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 242.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON RASGRP2 Lymphocyte count (30120) EFO_0004587 6.08e-18 6.08 -18 0.3 0.244 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 1097.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON DTL Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 9.98e-12 9.98 -12 -0.252 -0.353 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 53.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACAN Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 4.52e-35 4.52 -35 -0.8 -0.951 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 24.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ADAMTS17 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 2.17e-12 2.17 -12 -0.067 -0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 818.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADAMTS10 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 2.15e-11 2.15 -11 -0.094 -0.133 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 357.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RASA2 Lymphocyte count (30120) EFO_0004587 6.25e-12 6.25 -12 -0.258 -0.361 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 318.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK OralDiabetes Med (RGC) EFO_0007010 1.98e-14 1.98 -14 4.366 6.369 EUR HANCESTRO_0005 UK Biobank 450k GCST90081503 320758 13132 46.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GIGYF1 Townsend deprivation index at recruitment (189) EFO_0009711 5.13e-13 5.13 -13 0.708 0.557 EUR HANCESTRO_0005 UK Biobank 450k GCST90077617 430494 430494 158.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADAMTS17 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 2.46e-15 2.46 -15 -0.201 -0.267 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 125.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MYD88 Lymphocyte count (30120) EFO_0004587 6.09e-20 6.09 -20 0.551 0.454 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 356.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON RASA2 Lymphocyte count (30120) EFO_0004587 5.35e-15 5.35 -15 -0.176 -0.235 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 970.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 1.7e-15 1.7 -15 0.45 0.361 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 69.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ANKRD12 Lymphocyte count (30120) EFO_0004587 1.22e-11 1.22 -11 -0.255 -0.359 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 312.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GIGYF1 Townsend deprivation index at recruitment (189) EFO_0009711 5.13e-13 5.13 -13 0.708 0.557 EUR HANCESTRO_0005 UK Biobank 450k GCST90077617 430494 430494 158.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HNF1A OralDiabetes Med (RGC) EFO_0007010 6.15e-12 6.15 -12 7.884 14.201 EUR HANCESTRO_0005 UK Biobank 450k GCST90081503 320758 13132 22.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 Z09.0: Follow-up examination after surgery for other conditions (Z09.0) EFO_0004542 1.39e-11 1.39 -11 12.039 24.77 EUR HANCESTRO_0005 UK Biobank 450k GCST90081201 387930 5895 15.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GCK DD DM - Yes (2443) EFO_0000400 3.83e-33 3.83 -33 6.547 8.9 EUR HANCESTRO_0005 UK Biobank 450k GCST90078949 429739 22058 81.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GCK DD DM - Yes (2443) EFO_0000400 1.2299999999999998e-23 1.23 -23 22.735 41.882 EUR HANCESTRO_0005 UK Biobank 450k GCST90078949 429739 22058 29.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK DD DM - Yes (2443) EFO_0000400 3.51e-17 3.51 -17 18.773 37.128 EUR HANCESTRO_0005 UK Biobank 450k GCST90078949 429739 22058 22.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PFKM Glycated haemoglobin HbA1c (30750) EFO_0004541 9.66e-21 9.66 -21 -0.363 -0.459 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 317.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON RHAG Glycated haemoglobin HbA1c (30750) EFO_0004541 3.44e-30 3.44 -30 -0.487 -0.588 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 289.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GCK Glycated haemoglobin HbA1c (30750) EFO_0004541 2.76e-68 2.76 -68 1.282 1.153 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 176.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GCK Glycated haemoglobin HbA1c (30750) EFO_0004541 1.43e-28 1.43 -28 1.541 1.309 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 55.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GCK Glycated haemoglobin HbA1c (30750) EFO_0004541 1.75e-82 1.75 -82 0.883 0.802 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 442.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GIGYF1 Glycated haemoglobin HbA1c (30750) EFO_0004541 2.82e-25 2.82 -25 0.866 0.728 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 156.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON G6PD Glycated haemoglobin HbA1c (30750) EFO_0004541 2.23e-31 2.23 -31 -0.764 -0.919 EAS HANCESTRO_0009 UK Biobank 450k 2117 2117 82.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HK1 Glycated haemoglobin HbA1c (30750) EFO_0004541 4.65e-13 4.65 -13 -0.838 -1.15 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 31.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON SLC30A8 Glycated haemoglobin HbA1c (30750) EFO_0004541 4.97e-20 4.97 -20 -0.178 -0.227 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 1256.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON AMPD3 Glycated haemoglobin HbA1c (30750) EFO_0004541 3.94e-41 3.94 -41 0.125 0.109 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 11792.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MAP3K15 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.26e-13 1.26 -13 -0.062 -0.084 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 3428.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANK1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.24e-12 1.24 -12 -0.149 -0.205 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 917.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TSHR ICD10 E03: Other hypothyroidism EFO_0004705 1.82e-14 1.82 -14 2.978 3.937 EUR HANCESTRO_0005 UK Biobank 450k GCST90079722 383065 21010 79.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ATP11C Glycated haemoglobin HbA1c (30750) EFO_0004541 1.83e-14 1.83 -14 -0.247 -0.332 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 294.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON APC ICD10 Z93.2: Ileostomy status EFO_0002571 1.1e-21 1.1 -21 50.818 113.64 EUR HANCESTRO_0005 UK Biobank 450k GCST90081413 387887 1429 16.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL7 Intra ocular pressure Goldmann correlated left (5263) EFO_0004695 3.23e-19 3.23 -19 -0.157 -0.201 EUR HANCESTRO_0005 UK Biobank 450k GCST90079338 105697 105697 1861.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PKD2 ICD10 Q61: Cystic kidney disease EFO_0008615 1.4799999999999999e-40 1.48 -40 29.727 48.945 EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 37.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD2 ICD10 Q61: Cystic kidney disease EFO_0008615 2.62e-26 2.62 -26 9.677 14.717 EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 41.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 K31.7: Polyp of stomach and duodenum MONDO_0008277 1.7e-15 1.7 -15 16.091 31.887 EUR HANCESTRO_0005 UK Biobank 450k GCST90080210 387782 6198 18.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON UBR2 Leg fat percentage right (23111) EFO_0007800 4.12e-12 4.12 -12 0.438 0.341 EUR HANCESTRO_0005 UK Biobank 450k GCST90078914 423666 423666 141.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON UBR2 Leg fat percentage right (23111) EFO_0007800 4.12e-12 4.12 -12 0.438 0.341 EUR HANCESTRO_0005 UK Biobank 450k GCST90078914 423666 423666 141.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TTN ICD10 I50: Heart failure EFO_0003144 1.92e-21 1.92 -21 2.085 2.426 EUR HANCESTRO_0005 UK Biobank 450k GCST90080023 387076 8159 226.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 ICD10 Z94: Transplanted organ and tissue status EFO_0002571 1.06e-61 1.06 -61 57.077 92.078 EUR HANCESTRO_0005 UK Biobank 450k GCST90081418 387906 1305 47.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 ICD10 Z94: Transplanted organ and tissue status EFO_0002571 6.42e-34 6.42 -34 5.662 7.491 EUR HANCESTRO_0005 UK Biobank 450k GCST90081418 387906 1305 82.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ASXL1 Current tobacco smoking - Yes on most or all days (1239) EFO_0005671 1.3399999999999998e-34 1.34 -34 2.872 3.399 EUR HANCESTRO_0005 UK Biobank 450k GCST90077584 430498 33523 214.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MFRP SphericalEquivalent l started wearing glasses contacts before 40 (RGC) EFO_0004731 1.01e-13 1.01 -13 0.536 0.424 EUR HANCESTRO_0005 UK Biobank 450k GCST90081511 48821 48821 273.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASXL1 Current tobacco smoking - Yes on most or all days (1239) EFO_0005671 8.65e-15 8.65 -15 1.523 1.693 EUR HANCESTRO_0005 UK Biobank 450k GCST90077584 430498 33523 442.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 Current tobacco smoking - Yes on most or all days (1239) EFO_0005671 6.07e-20 6.07 -20 2.598 3.189 EUR HANCESTRO_0005 UK Biobank 450k GCST90077584 430498 33523 140.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Weight (23098) EFO_0004338 8.74e-14 8.74 -14 0.326 0.258 EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 554.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SHBG Testosterone (30850) EFO_0004908 1.13e-48 1.13 -48 -0.277 -0.32 EUR HANCESTRO_0005 UK Biobank 450k GCST90079042 373826 373826 745.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON EGFL8 ICD10 L40.9: Psoriasis, unspecified EFO_0000676 5.39e-12 5.39 -12 2.633 3.467 EUR HANCESTRO_0005 UK Biobank 450k GCST90080348 386981 2364 69.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ANKRD12 Touchscreen duration (630) EFO_0000689 1.1e-15 1.1 -15 0.494 0.397 EUR HANCESTRO_0005 UK Biobank 450k GCST90079491 430751 430751 318.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Impedance of leg left (23108) HP_0000924 1.19e-11 1.19 -11 0.098 0.076 EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 5849.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GATA5 Forced vital capacity FVC Z score (20257) EFO_0004312 5.45e-16 5.45 -16 0.127 0.102 EUR HANCESTRO_0005 UK Biobank 450k GCST90078389 343302 343302 5762.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Non cancer illness code self reported - atrial fibrillation EFO_0000275 2e-15 2.0 -15 2.33 2.871 EUR HANCESTRO_0005 UK Biobank 450k GCST90077881 331754 3921 120.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Non cancer illness code self reported - atrial fibrillation EFO_0000275 4.16e-19 4.16 -19 2.799 3.508 EUR HANCESTRO_0005 UK Biobank 450k GCST90077881 331754 3921 108.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Non cancer illness code self reported - atrial fibrillation EFO_0000275 2e-15 2.0 -15 2.33 2.871 EUR HANCESTRO_0005 UK Biobank 450k GCST90077881 331754 3921 120.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON WNT1 Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 4.26e-15 4.26 -15 -0.338 -0.451 EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 236.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON WNT1 Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 4.26e-15 4.26 -15 -0.338 -0.451 EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 236.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LRP5 Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 9.79e-14 9.79 -14 -0.443 -0.601 EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 120.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LRP5 Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 9.79e-14 9.79 -14 -0.443 -0.601 EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 120.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Arm fat free mass right (23121) EFO_0004995 4.2900000000000005e-27 4.29 -27 -0.097 -0.118 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 2642.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC4R Arm fat free mass right (23121) EFO_0004995 3.36e-19 3.36 -19 0.177 0.145 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Arm fat free mass right (23121) EFO_0004995 5.14e-20 5.14 -20 -0.053 -0.068 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 5844.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Arm fat free mass right (23121) EFO_0004995 1.67e-13 1.67 -13 0.327 0.258 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 257.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Arm fat free mass right (23121) EFO_0004995 1.39e-19 1.39 -19 -0.501 -0.639 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 63.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ZFAT Arm fat free mass right (23121) EFO_0004995 6.84e-28 6.84 -28 0.308 0.261 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 554.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON STC2 Arm fat free mass right (23121) EFO_0004995 2.8e-18 2.8 -18 0.121 0.098 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 2488.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Arm fat free mass right (23121) EFO_0004995 2.26e-12 2.26 -12 0.345 0.27 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 213.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SCUBE3 Arm fat free mass right (23121) EFO_0004995 1.7e-13 1.7 -13 -0.067 -0.091 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 2062.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SCUBE3 Standing height (50) EFO_0004339 1.49e-29 1.49 -29 -0.237 -0.287 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 526.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON NF1 Standing height (50) EFO_0004339 2.87e-19 2.87 -19 -0.225 -0.288 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 325.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGF2BP2 Standing height (50) EFO_0004339 2.57e-12 2.57 -12 -0.446 -0.619 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 43.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Standing height (50) EFO_0004339 3.57e-29 3.57 -29 0.47 0.4 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 263.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SERPINH1 Standing height (50) EFO_0004339 2.72e-15 2.72 -15 -0.145 -0.193 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 558.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON DTL Standing height (50) EFO_0004339 5.23e-25 5.23 -25 -0.404 -0.498 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 146.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGF2BP2 Standing height (50) EFO_0004339 9.24e-18 9.24 -18 -0.19 -0.247 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 408.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PAPPA Standing height (50) EFO_0004339 2.97e-12 2.97 -12 -0.106 -0.147 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 759.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON DDR2 Standing height (50) EFO_0004339 3.19e-18 3.19 -18 -0.091 -0.118 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1860.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NRK Standing height (50) EFO_0004339 4.83e-15 4.83 -15 0.225 0.18 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 462.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON COL27A1 Standing height (50) EFO_0004339 8.21e-13 8.21 -13 -0.24 -0.331 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 157.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ESR1 Standing height (50) EFO_0004339 1.76e-11 1.76 -11 0.051 0.04 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 9952.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON COL27A1 Standing height (50) EFO_0004339 1.28e-12 1.28 -12 -0.22 -0.305 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 182.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PDE3B Standing height (50) EFO_0004339 1.02e-13 1.02 -13 0.156 0.123 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1214.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CRISPLD1 Standing height (50) EFO_0004339 3.0999999999999997e-24 3.1 -24 -0.144 -0.178 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1084.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGFALS Standing height (50) EFO_0004339 2.71e-12 2.71 -12 -0.065 -0.09 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1996.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK Metformin Med (RGC) EFO_0007010 1.04e-13 1.04 -13 5.031 7.702 EUR HANCESTRO_0005 UK Biobank 450k GCST90081499 320758 12065 37.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GCK Metformin Med (RGC) EFO_0007010 1.71e-11 1.71 -11 13.939 30.025 EUR HANCESTRO_0005 UK Biobank 450k GCST90081499 320758 12065 15.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON WNT1 Speed of sound through heel right (4122) EFO_0005654 7.57e-12 7.57 -12 -0.339 -0.475 EUR HANCESTRO_0005 UK Biobank 450k GCST90079156 166358 166358 164.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON FLCN Non cancer illness code self reported - spontaneous pneumothorax recurrent pneumothorax HP_0002108 3.9800000000000006e-21 3.98 -21 24.88 48.514 EUR HANCESTRO_0005 UK Biobank 450k GCST90077685 331754 1058 20.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC45A2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 4.42e-79 4.42 -79 0.444 0.483 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 747.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON OCA2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 6.63e-114 6.63 -114 0.396 0.429 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 741.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 Z92.3: Personal history of irradiation EFO_0000352 4.13e-16 4.13 -16 3.949 5.499 EUR HANCESTRO_0005 UK Biobank 450k GCST90081407 387929 4774 54.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 Monocyte percentage (30190) EFO_0007989 8.010000000000001e-31 8.01 -31 0.289 0.247 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 1777.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON NPC1 Monocyte percentage (30190) EFO_0007989 2.06e-12 2.06 -12 -0.092 -0.128 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 2741.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON COL6A1 Corneal hysteresis left (5264) EFO_0010066 1.09e-25 1.09 -25 -0.948 -1.166 EUR HANCESTRO_0005 UK Biobank 450k GCST90079339 105697 105697 73.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A3 Direct bilirubin (30660) EFO_0004570 1.43e-40 1.43 -40 0.476 0.415 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 860.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ATP11C Direct bilirubin (30660) EFO_0004570 5.09e-20 5.09 -20 0.951 0.783 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 60.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC1R Hair colour natural before greying - Light brown (1747) EFO_0007822 3.47e-25 3.47 -25 0.748 0.79 EUR HANCESTRO_0005 UK Biobank 450k GCST90077608 429979 175455 2016.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON RP11-545J16.1 Direct bilirubin (30660) EFO_0004570 1.69e-42 1.69 -42 0.122 0.107 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 11312.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A9 Direct bilirubin (30660) EFO_0004570 3.24e-16 3.24 -16 0.492 0.397 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 352.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLCO1B1 Direct bilirubin (30660) EFO_0004570 5.629999999999999e-45 5.63 -45 0.306 0.269 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1859.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A3 Direct bilirubin (30660) EFO_0004570 1.99e-11 1.99 -11 0.185 0.143 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1843.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLCO1B1 Direct bilirubin (30660) EFO_0004570 5.79e-12 5.79 -12 0.251 0.195 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 839.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLCO1B3 Direct bilirubin (30660) EFO_0004570 9.56e-19 9.56 -19 0.373 0.305 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 566.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLCO1B3 Direct bilirubin (30660) EFO_0004570 3.44e-139 3.44 -139 0.335 0.311 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 4428.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Direct bilirubin (30660) EFO_0004570 2.05e-12 2.05 -12 0.808 0.632 SAS HANCESTRO_0006 UK Biobank 450k 8157 8157 95.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON UGT1A8 Direct bilirubin (30660) EFO_0004570 3.08e-33 3.08 -33 0.379 0.326 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1136.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Waist circumference (48) EFO_0004342 3.9599999999999997e-23 3.96 -23 0.284 0.237 EUR HANCESTRO_0005 UK Biobank 450k GCST90079228 430261 430261 1225.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Waist circumference (48) EFO_0004342 1.53e-25 1.53 -25 0.337 0.283 EUR HANCESTRO_0005 UK Biobank 450k GCST90079228 430261 430261 955.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 Self Report - breast cancer (20001) EFO_0000305 8.150000000000001e-27 8.15 -27 6.063 8.429 EUR HANCESTRO_0005 UK Biobank 450k GCST90077626 39614 10070 141.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 Self Report - breast cancer (20001) EFO_0000305 7.61e-15 7.61 -15 4.104 5.859 EUR HANCESTRO_0005 UK Biobank 450k GCST90077626 39614 10070 104.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 7.85e-23 7.85 -23 7.624 11.428 EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 42.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APC ICD10 D13: Benign neoplasm of other and ill-defined parts of digestive system EFO_0002422 7.820000000000001e-26 7.82 -26 95.868 224.517 EUR HANCESTRO_0005 UK Biobank 450k GCST90079664 387696 1532 16.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON TTN Arm predicted mass left (23126) EFO_0004302 2.8100000000000003e-21 2.81 -21 -0.065 -0.082 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 4403.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Arm predicted mass left (23126) EFO_0004302 6.87e-17 6.87 -17 -0.116 -0.152 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 995.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SCUBE3 Arm predicted mass left (23126) EFO_0004302 7.9e-13 7.9 -13 -0.066 -0.091 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 2062.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PIEZO1 Arm predicted mass left (23126) EFO_0004302 4.81e-13 4.81 -13 -0.02 -0.027 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 24583.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Arm predicted mass left (23126) EFO_0004302 7.3e-16 7.3 -16 -0.046 -0.061 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 5843.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON STC2 Arm predicted mass left (23126) EFO_0004302 1.53e-19 1.53 -19 0.127 0.104 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 2488.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Arm predicted mass left (23126) EFO_0004302 7.3e-16 7.3 -16 -0.046 -0.061 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 5843.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Arm predicted mass left (23126) EFO_0004302 1.54e-12 1.54 -12 0.368 0.288 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 197.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Arm predicted mass left (23126) EFO_0004302 4.65e-17 4.65 -17 -0.343 -0.448 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 115.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CD36 Platelet distribution width (30110) EFO_0007984 1.06e-15 1.06 -15 0.205 0.165 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1929.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IQGAP2 Platelet distribution width (30110) EFO_0007984 1.72e-15 1.72 -15 0.091 0.073 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 9653.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MSH6 ICD10 C54: Malignant neoplasm of corpus uteri EFO_0007532 3.62e-24 3.62 -24 13.298 21.927 EUR HANCESTRO_0005 UK Biobank 450k GCST90079608 211679 1515 32.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TUBB1 Platelet distribution width (30110) EFO_0007984 2.52e-94 2.52 -94 1.082 0.988 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 358.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON JAK2 Platelet distribution width (30110) EFO_0007984 1.13e-15 1.13 -15 0.191 0.154 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 2164.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Platelet distribution width (30110) EFO_0007984 3.0100000000000004e-32 3.01 -32 0.293 0.251 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1779.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASXL1 Platelet distribution width (30110) EFO_0007984 4.9100000000000005e-64 4.91 -64 0.502 0.45 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1167.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TUBB1 Platelet distribution width (30110) EFO_0007984 1.0600000000000001e-85 1.06 -85 2.074 1.886 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 89.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON APOC3 Platelet distribution width (30110) EFO_0007984 3.49e-20 3.49 -20 -0.138 -0.176 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 2204.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC4A1 Mean corpuscular haemoglobin (30050) EFO_0004527 1.49e-11 1.49 -11 0.841 0.652 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 83.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ANKRD12 Mean corpuscular haemoglobin (30050) EFO_0004527 3.17e-14 3.17 -14 -0.28 -0.378 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 312.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC4A1 Mean corpuscular haemoglobin (30050) EFO_0004527 9.17e-12 9.17 -12 1.237 0.961 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 39.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TFRC Mean corpuscular haemoglobin (30050) EFO_0004527 1.82e-44 1.82 -44 -1.219 -1.418 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 76.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TERT Mean corpuscular haemoglobin (30050) EFO_0004527 2.58e-17 2.58 -17 0.58 0.471 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 250.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 1.04e-103 1.04 -103 -1.922 -2.114 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GMPR Mean corpuscular haemoglobin (30050) EFO_0004527 1.44e-16 1.44 -16 0.293 0.237 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 982.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NPC1 Mean corpuscular haemoglobin (30050) EFO_0004527 3.97e-12 3.97 -12 -0.089 -0.124 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 2745.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBA2 Mean corpuscular haemoglobin (30050) EFO_0004527 2.2e-17 2.2 -17 -0.223 -0.29 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1039.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCB10 Mean corpuscular haemoglobin (30050) EFO_0004527 9.09e-12 9.09 -12 -0.137 -0.192 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 986.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TMPRSS6 Mean corpuscular haemoglobin (30050) EFO_0004527 5.649999999999999e-45 5.65 -45 -0.565 -0.656 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 361.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 2.94e-13 2.94 -13 -1.536 -2.1 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 14.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CAD Mean corpuscular haemoglobin (30050) EFO_0004527 7.53e-13 7.53 -13 0.247 0.194 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1068.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON CHTF18 Mean corpuscular haemoglobin (30050) EFO_0004527 2.79e-18 2.79 -18 0.305 0.249 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 959.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON RRM2 Mean corpuscular haemoglobin (30050) EFO_0004527 2.37e-14 2.37 -14 0.609 0.484 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 193.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CAD Mean corpuscular haemoglobin (30050) EFO_0004527 4.13e-15 4.13 -15 0.597 0.478 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 210.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON E2F4 Mean corpuscular haemoglobin (30050) EFO_0004527 1.9e-21 1.9 -21 2.068 1.714 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 24.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON RNF20 Mean corpuscular haemoglobin (30050) EFO_0004527 5.63e-13 5.63 -13 -0.302 -0.414 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 235.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 ICD10 C79: Secondary malignant neoplasm of other and unspecified sites EFO_0009812 1.77e-12 1.77 -12 3.586 5.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90079629 387728 5376 46.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 ICD10 C79: Secondary malignant neoplasm of other and unspecified sites EFO_0009812 7.1e-14 7.1 -14 5.25 8.105 EUR HANCESTRO_0005 UK Biobank 450k GCST90079629 387728 5376 34.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 ICD10 C79: Secondary malignant neoplasm of other and unspecified sites EFO_0009812 4.3400000000000003e-26 4.34 -26 4.54 6.011 EUR HANCESTRO_0005 UK Biobank 450k GCST90079629 387728 5376 79.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GFPT2 Trunk fat free mass (23129) EFO_0004995 9.59e-12 9.59 -12 -0.051 -0.071 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 2921.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SCUBE3 Trunk fat free mass (23129) EFO_0004995 3.96e-15 3.96 -15 -0.074 -0.098 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 2062.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGFALS Trunk fat free mass (23129) EFO_0004995 9.56e-15 9.56 -15 -0.074 -0.099 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 1957.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SMAD6 Speed of sound through heel (3146) EFO_0005654 1.79e-12 1.79 -12 -0.309 -0.428 EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 215.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LRP5 Speed of sound through heel (3146) EFO_0005654 1.68e-13 1.68 -13 -0.442 -0.602 EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 120.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Trunk fat free mass (23129) EFO_0004995 6.3299999999999995e-25 6.33 -25 -0.072 -0.088 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 4402.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Trunk fat free mass (23129) EFO_0004995 9.38e-20 9.38 -20 -0.296 -0.377 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 185.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ZFAT Trunk fat free mass (23129) EFO_0004995 5.7e-15 5.7 -15 0.423 0.338 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 170.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Trunk fat free mass (23129) EFO_0004995 6.3299999999999995e-25 6.33 -25 -0.072 -0.088 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 4402.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Trunk fat free mass (23129) EFO_0004995 1.56e-16 1.56 -16 0.36 0.291 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 257.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SHBG Speed of sound through heel (3146) EFO_0005654 4.73e-12 4.73 -12 0.125 0.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 4045.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Non cancer illness code self reported - atrial fibrillation/ICD10 I48 EFO_0000275 3.12e-15 3.12 -15 2.351 2.908 EUR HANCESTRO_0005 UK Biobank 450k GCST90077882 329052 3763 116.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Trunk fat free mass (23129) EFO_0004995 5.6e-42 5.6 -42 0.16 0.14 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 3011.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Trunk fat free mass (23129) EFO_0004995 5.7e-15 5.7 -15 0.423 0.338 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 170.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MEPE Speed of sound through heel (3146) EFO_0005654 1.5999999999999999e-31 1.6 -31 -0.26 -0.313 EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 1108.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Forced expiratory volume in 1 second FEV1 (3063) EFO_0004314 4.96e-12 4.96 -12 -0.054 -0.075 EUR HANCESTRO_0005 UK Biobank 450k GCST90079017 395451 395451 4124.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SCUBE3 Arm predicted mass right (23122) EFO_0004302 1.54e-14 1.54 -14 -0.092 -0.123 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 1216.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 Mothers age at death (3526) EFO_0007796 1.69e-13 1.69 -13 -0.085 -0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 3771.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Arm predicted mass right (23122) EFO_0004302 4.23e-13 4.23 -13 0.411 0.323 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 157.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Arm predicted mass right (23122) EFO_0004302 4.23e-13 4.23 -13 0.411 0.323 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 157.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCB4 Non cancer illness code self reported - cholelithiasis gall stones EFO_0004210 1.69e-12 1.69 -12 2.41 3.078 EUR HANCESTRO_0005 UK Biobank 450k GCST90077704 331754 7669 109.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Arm predicted mass right (23122) EFO_0004302 2.9e-20 2.9 -20 0.204 0.168 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Arm predicted mass right (23122) EFO_0004302 9.72e-13 9.72 -13 0.362 0.284 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 197.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Forced expiratory volume in 1 second FEV1 (3063) EFO_0004314 4.71e-12 4.71 -12 0.116 0.091 EUR HANCESTRO_0005 UK Biobank 450k GCST90079017 395451 395451 2825.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APC ICD10 D13.1: Benign neoplasm of stomach MONDO_0021449 2.17e-25 2.17 -25 137.279 346.704 EUR HANCESTRO_0005 UK Biobank 450k GCST90079663 387930 1028 14.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON APC ICD10 D13.1: Benign neoplasm of stomach MONDO_0021449 4.6200000000000004e-27 4.62 -27 91.43 207.911 EUR HANCESTRO_0005 UK Biobank 450k GCST90079663 387930 1028 17.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 Cholesterol (30690) EFO_0004574 4.27e-146 4.27 -146 -0.636 -0.688 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 1188.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZNF229 Cholesterol (30690) EFO_0004574 9.47e-17 9.47 -17 -0.082 -0.107 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 5203.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL3 Cholesterol (30690) EFO_0004574 1.9899999999999998e-62 1.99 -62 -0.459 -0.521 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 867.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB Cholesterol (30690) EFO_0004574 2.2300000000000002e-307 2.23 -307 -1.368 -1.436 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 700.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON RRBP1 Cholesterol (30690) EFO_0004574 4.29e-12 4.29 -12 -0.314 -0.438 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 210.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PCSK9 Cholesterol (30690) EFO_0004574 4.0600000000000005e-58 4.06 -58 -0.783 -0.892 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 275.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ABCA1 Cholesterol (30690) EFO_0004574 2.13e-59 2.13 -59 -0.271 -0.309 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 2341.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ABCA1 Cholesterol (30690) EFO_0004574 5.82e-14 5.82 -14 -0.29 -0.393 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 307.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON LDLR Cholesterol (30690) EFO_0004574 1.3099999999999998e-55 1.31 -55 0.39 0.347 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 1787.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 Cholesterol (30690) EFO_0004574 5.91e-39 5.91 -39 -0.598 -0.704 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 291.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BAK1 Platelet count (30080) EFO_0004309 2.37e-19 2.37 -19 0.326 0.268 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 863.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TPM4 Platelet count (30080) EFO_0004309 8.69e-14 8.69 -14 -0.891 -1.208 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 29.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 3.12e-28 3.12 -28 -1.315 -1.599 EAS HANCESTRO_0009 UK Biobank 450k 2108 2108 45.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CD36 Platelet count (30080) EFO_0004309 4.87e-12 4.87 -12 -0.073 -0.101 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 3612.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SH2B3 Platelet count (30080) EFO_0004309 2.35e-12 2.35 -12 0.536 0.419 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 215.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON JAK2 Platelet count (30080) EFO_0004309 4.26e-166 4.26 -166 0.553 0.516 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 2164.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MPL Platelet count (30080) EFO_0004309 1.4300000000000002e-35 1.43 -35 0.479 0.414 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 699.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 7.88e-49 7.88 -49 -1.22 -1.408 EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 88.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 6.29e-14 6.29 -14 -1.466 -1.984 EAS HANCESTRO_0009 UK Biobank 450k 2108 2108 13.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 2.26e-15 2.26 -15 -0.868 -1.153 AFR HANCESTRO_0010 UK Biobank 450k 8544 8544 41.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GP1BA Platelet count (30080) EFO_0004309 2.4699999999999998e-46 2.47 -46 -0.358 -0.415 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 900.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BAK1 Platelet count (30080) EFO_0004309 1.23e-15 1.23 -15 0.499 0.401 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 304.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SRSF2 Platelet count (30080) EFO_0004309 4.43e-18 4.43 -18 -0.434 -0.56 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 182.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GP1BB Platelet count (30080) EFO_0004309 5.5e-23 5.5 -23 -1.376 -1.717 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 25.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON CHEK2 Platelet count (30080) EFO_0004309 7.05e-13 7.05 -13 0.151 0.119 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 2756.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ABCB4 Alanine aminotransferase (30620) EFO_0004735 1.07e-18 1.07 -18 0.247 0.202 EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 1541.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 Platelet count (30080) EFO_0004309 1.64e-17 1.64 -17 -0.136 -0.176 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1779.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 1.17e-160 1.17 -160 -1.096 -1.181 EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 423.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CALR Platelet count (30080) EFO_0004309 4.04e-20 4.04 -20 0.512 0.422 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 361.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ABCB4 Alanine aminotransferase (30620) EFO_0004735 9.36e-16 9.36 -16 0.756 0.608 EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 141.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TECTA Hearing difficulty problems background noise - Yes (2257) EFO_0007616 3.71e-12 3.71 -12 1.226 1.299 EUR HANCESTRO_0005 UK Biobank 450k GCST90078878 422872 167296 2214.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MYO6 Hearing difficulty problems - Yes (2247) EFO_0007616 1.55e-17 1.55 -17 3.939 5.399 EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 99.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON KDM5B Hand grip strength left (46) EFO_0006941 2.21e-15 2.21 -15 -0.25 -0.332 EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 256.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GIGYF1 Hand grip strength left (46) EFO_0006941 3.14e-13 3.14 -13 -0.284 -0.388 EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 158.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Hand grip strength left (46) EFO_0006941 1.93e-11 1.93 -11 -0.042 -0.059 EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 5940.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR CAD Loose CC (RGC) EFO_0001645 5.01e-12 5.01 -12 3.226 4.498 EUR HANCESTRO_0005 UK Biobank 450k GCST90081465 387011 33971 61.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR CAD Loose CC (RGC) EFO_0001645 9.35e-26 9.35 -26 2.222 2.579 EUR HANCESTRO_0005 UK Biobank 450k GCST90081465 387011 33971 273.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TNRC6B Hand grip strength left (46) EFO_0006941 4.6e-16 4.6 -16 -0.452 -0.596 EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 83.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LDLR CAD Loose CC (RGC) EFO_0001645 1.77e-19 1.77 -19 3.768 5.027 EUR HANCESTRO_0005 UK Biobank 450k GCST90081465 387011 33971 86.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TNFSF13 Total protein (30860) EFO_0004536 1.42e-13 1.42 -13 -0.473 -0.644 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 118.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON FCGRT Total protein (30860) EFO_0004536 1.6e-32 1.6 -32 -1.091 -1.307 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 74.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TNFRSF13B Total protein (30860) EFO_0004536 2.42e-15 2.42 -15 -0.163 -0.217 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 1197.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ALB Total protein (30860) EFO_0004536 7.27e-14 7.27 -14 -0.619 -0.839 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 71.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON FCGRT Total protein (30860) EFO_0004536 1.6e-32 1.6 -32 -1.091 -1.307 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 74.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TNFRSF17 Total protein (30860) EFO_0004536 5.8e-12 5.8 -12 -0.219 -0.306 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 454.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TNFSF13 Total protein (30860) EFO_0004536 8.66e-15 8.66 -15 -0.399 -0.534 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 189.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IQGAP2 Total protein (30860) EFO_0004536 3.37e-12 3.37 -12 -0.132 -0.183 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 1290.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON STAB1 Total protein (30860) EFO_0004536 8.84e-13 8.84 -13 0.205 0.161 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 1775.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON FCGRT Total protein (30860) EFO_0004536 1.1500000000000002e-27 1.15 -27 -1.373 -1.674 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 38.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ANKRD12 Total protein (30860) EFO_0004536 1.81e-20 1.81 -20 -0.411 -0.521 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 282.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TTN ICD10 I42: Cardiomyopathy EFO_0000318 3.54e-56 3.54 -56 8.954 11.754 EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 98.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MYBPC3 ICD10 I42: Cardiomyopathy EFO_0000318 4.51e-25 4.51 -25 31.625 60.852 EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 22.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NOTCH1 ICD10 C91: Lymphoid leukemia EFO_0004289 1.4900000000000001e-33 1.49 -33 258.404 636.738 EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 18.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MYBPC3 ICD10 I42: Cardiomyopathy EFO_0000318 4.51e-25 4.51 -25 31.625 60.852 EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 22.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CHD2 ICD10 C91: Lymphoid leukemia EFO_0004289 6.34e-15 6.34 -15 44.191 114.533 EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 11.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SF3B1 ICD10 C91: Lymphoid leukemia EFO_0004289 2.22e-18 2.22 -18 17.97 34.333 EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 20.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN ICD10 I42: Cardiomyopathy EFO_0000318 1.61e-48 1.61 -48 5.313 6.645 EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 128.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CHD2 ICD10 C91: Lymphoid leukemia EFO_0004289 1.26e-20 1.26 -20 176.717 525.149 EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 11.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON PROS1 VTE PE CC (RGC) EFO_0003827 2.48e-17 2.48 -17 6.359 9.757 EUR HANCESTRO_0005 UK Biobank 450k GCST90081536 376456 5226 37.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PROS1 VTE PE CC (RGC) EFO_0004286 4.08e-12 4.08 -12 2.826 3.791 EUR HANCESTRO_0005 UK Biobank 450k GCST90081536 376456 5226 63.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PROS1 VTE PE CC (RGC) EFO_0003827 4.08e-12 4.08 -12 2.826 3.791 EUR HANCESTRO_0005 UK Biobank 450k GCST90081536 376456 5226 63.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH2 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 4.63e-13 4.63 -13 6.389 10.558 EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 27.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MLH1 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 2.47e-25 2.47 -25 8.119 12.049 EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 47.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TYRP1 Skin colour - Very fair (1717) EFO_0003784 1.23e-18 1.23 -18 1.818 2.077 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 311.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TYR Skin colour - Very fair (1717) EFO_0003784 1.3e-19 1.3 -19 2.68 3.316 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 134.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC45A2 Skin colour - Very fair (1717) EFO_0003784 3.58e-14 3.58 -14 3.107 4.166 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 77.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC1R Skin colour - Very fair (1717) EFO_0003784 5.290000000000001e-231 5.29 -231 3.28 3.524 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 1257.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR ICD10 E78.0: Pure hypercholesterolemia HP_0003124 6.28e-46 6.28 -46 2.768 3.185 EUR HANCESTRO_0005 UK Biobank 450k GCST90079766 378271 45730 344.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR ICD10 E78.0: Pure hypercholesterolemia HP_0003124 5.23e-16 5.23 -16 6.655 10.524 EUR HANCESTRO_0005 UK Biobank 450k GCST90079766 378271 45730 43.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LDLR ICD10 E78.0: Pure hypercholesterolemia HP_0003124 4.85e-12 4.85 -12 2.869 3.868 EUR HANCESTRO_0005 UK Biobank 450k GCST90079766 378271 45730 77.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 Treatment or Medication Code - doxazosin EFO_0007010 1.22e-12 1.22 -12 7.583 13.263 EUR HANCESTRO_0005 UK Biobank 450k GCST90078093 320758 5111 23.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB ICD10 E78.0: Pure hypercholesterolemia HP_0003124 4.86e-13 4.86 -13 0.303 0.419 EUR HANCESTRO_0005 UK Biobank 450k GCST90079766 378271 45730 27.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APC ICD10 D12.6: Benign neoplasm of colon, unspecified EFO_0002422 4.26e-26 4.26 -26 62.539 134.686 EUR HANCESTRO_0005 UK Biobank 450k GCST90079659 387930 2672 19.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON ZFAT Weight (21002) EFO_0004338 8.54e-19 8.54 -19 0.16 0.131 EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 3056.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ARHGAP10 Mean platelet thrombocyte volume (30100) EFO_0004584 2.63e-14 2.63 -14 0.34 0.27 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 562.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 Mean platelet thrombocyte volume (30100) EFO_0004584 3.62e-16 3.62 -16 0.202 0.163 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1779.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CHEK2 Mean platelet thrombocyte volume (30100) EFO_0004584 6.77e-22 6.77 -22 0.122 0.102 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 6989.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SDPR Mean platelet thrombocyte volume (30100) EFO_0004584 2.27e-19 2.27 -19 -0.468 -0.599 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 162.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IQGAP2 Mean platelet thrombocyte volume (30100) EFO_0004584 2.12e-61 2.12 -61 0.302 0.27 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 2705.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON RHOF Mean platelet thrombocyte volume (30100) EFO_0004584 7.23e-26 7.23 -26 0.57 0.481 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 361.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PTPRJ Mean platelet thrombocyte volume (30100) EFO_0004584 1.68e-26 1.68 -26 -0.459 -0.563 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 255.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TPM4 Mean platelet thrombocyte volume (30100) EFO_0004584 1.75e-18 1.75 -18 1.68 1.373 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 29.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GP1BA Mean platelet thrombocyte volume (30100) EFO_0004584 4.63e-114 4.63 -114 0.694 0.639 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 902.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TYRP1 Hair colour natural before greying - Blonde (1747) EFO_0007822 2.9099999999999998e-30 2.91 -30 4.333 5.572 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 126.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SVEP1 Mean platelet thrombocyte volume (30100) EFO_0004584 2.68e-13 2.68 -13 -0.302 -0.413 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 222.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GP1BA Mean platelet thrombocyte volume (30100) EFO_0004584 4.9400000000000005e-70 4.94 -70 1.253 1.128 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 176.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON RHOF Mean platelet thrombocyte volume (30100) EFO_0004584 3.05e-34 3.05 -34 0.489 0.422 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 632.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PDE3B Weight (21002) EFO_0004338 6.07e-14 6.07 -14 0.169 0.134 EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 2093.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TPM4 Mean platelet thrombocyte volume (30100) EFO_0004584 1.59e-14 1.59 -14 1.915 1.526 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 18.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON SDPR Mean platelet thrombocyte volume (30100) EFO_0004584 2.27e-19 2.27 -19 -0.468 -0.599 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 162.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IRS1 Weight (21002) EFO_0004338 1.65e-11 1.65 -11 -0.324 -0.456 EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 145.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Mean platelet thrombocyte volume (30100) EFO_0004584 1.08e-15 1.08 -15 0.199 0.16 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1794.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TUBB1 Mean platelet thrombocyte volume (30100) EFO_0004584 1.8199999999999997e-95 1.82 -95 0.976 0.892 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 382.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CKAP2L Mean platelet thrombocyte volume (30100) EFO_0004584 3.92e-25 3.92 -25 -0.403 -0.497 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 311.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON FBN1 ICD10 I71: Aortic aneurysm and dissection EFO_0001666 1.05e-18 1.05 -18 21.695 42.953 EUR HANCESTRO_0005 UK Biobank 450k GCST90080048 387517 2104 19.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON GOT1 Aspartate aminotransferase (30650) EFO_0004736 1.6999999999999999e-233 1.7 -233 -1.111 -1.182 EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 644.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANO5 Aspartate aminotransferase (30650) EFO_0004736 8.39e-27 8.39 -27 0.17 0.144 EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 4629.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APOB Aspartate aminotransferase (30650) EFO_0004736 3.05e-18 3.05 -18 0.368 0.3 EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 697.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Whole body water mass (23102) EFO_0009805 3.23e-16 3.23 -16 0.597 0.481 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 92.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACAN Whole body water mass (23102) EFO_0009805 6.82e-18 6.82 -18 -0.567 -0.733 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 44.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON TTN Whole body water mass (23102) EFO_0009805 5.8e-17 5.8 -17 -0.048 -0.063 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 5845.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Whole body water mass (23102) EFO_0009805 5.8e-17 5.8 -17 -0.048 -0.063 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 5845.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCB4 ICD10 K80: Cholelithiasis EFO_0004799 6.51e-15 6.51 -15 2.223 2.718 EUR HANCESTRO_0005 UK Biobank 450k GCST90080297 385441 17665 133.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Whole body water mass (23102) EFO_0009805 5.8e-17 5.8 -17 -0.048 -0.063 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 5845.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Whole body water mass (23102) EFO_0009805 9.86e-22 9.86 -22 -0.542 -0.681 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 63.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON IRS1 Whole body water mass (23102) EFO_0009805 2.74e-23 2.74 -23 -0.383 -0.477 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 140.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Whole body water mass (23102) EFO_0009805 3.06e-14 3.06 -14 0.384 0.306 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 197.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC22A12 Urate (30880) EFO_0004531 8.949999999999999e-48 8.95 -48 -0.642 -0.742 AFR HANCESTRO_0010 UK Biobank 450k 8534 8534 283.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC22A12 Urate (30880) EFO_0004531 1.36e-12 1.36 -12 -0.726 -1.003 SAS HANCESTRO_0006 UK Biobank 450k 9833 9833 35.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LRP2 Urate (30880) EFO_0004531 8.71e-17 8.71 -17 0.43 0.348 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 351.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CUBN Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 1.98e-37 1.98 -37 0.28 0.243 EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 2593.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK TAG ProbableT2D (RGC) MONDO_0005148 5.43e-24 5.43 -24 4.955 6.76 EUR HANCESTRO_0005 UK Biobank 450k GCST90081526 426342 17719 72.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC5A2 Urate (30880) EFO_0004531 3.93e-15 3.93 -15 -0.1 -0.133 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 2154.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK ICD10 E11.9: Type 2 diabetes mellitus without complications MONDO_0005148 1.96e-24 1.96 -24 24.365 45.001 EUR HANCESTRO_0005 UK Biobank 450k GCST90079741 385838 26590 32.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC22A12 Urate (30880) EFO_0004531 1.57e-16 1.57 -16 -0.789 -1.034 EAS HANCESTRO_0009 UK Biobank 450k 2106 2106 38.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PYGM Urate (30880) EFO_0004531 1.54e-16 1.54 -16 0.13 0.105 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 3788.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GCK ICD10 E11.9: Type 2 diabetes mellitus without complications MONDO_0005148 9.29e-31 9.29 -31 9.804 14.453 EUR HANCESTRO_0005 UK Biobank 450k GCST90079741 385838 26590 60.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON COL4A3 Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 2.62e-22 2.62 -22 0.312 0.26 EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 1296.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC22A11 Urate (30880) EFO_0004531 3.12e-20 3.12 -20 0.133 0.11 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 4371.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PDZK1 Urate (30880) EFO_0004531 9.809999999999999e-48 9.81 -48 -0.471 -0.545 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 437.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A4 ICD10 E80: Disorders of porphyrin and bilirubin metabolism Orphanet_309824 6.55e-12 6.55 -12 11.605 23.363 EUR HANCESTRO_0005 UK Biobank 450k GCST90079769 387166 614 15.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TSHR Non cancer illness code self reported - hypothyroidism myxoedema/ICD10 E03 EFO_0004705 1.45e-20 1.45 -20 2.358 2.825 EUR HANCESTRO_0005 UK Biobank 450k GCST90077731 329052 18362 176.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TSHR Non cancer illness code self reported - hypothyroidism myxoedema/ICD10 E03 EFO_0004705 1.54e-11 1.54 -11 2.161 2.703 EUR HANCESTRO_0005 UK Biobank 450k GCST90077731 329052 18362 111.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 Ankle spacing width right (4119) EFO_0004324 1.26e-13 1.26 -13 0.623 0.493 EUR HANCESTRO_0005 UK Biobank 450k GCST90079154 166358 166358 151.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON NPR2 Sitting height (20015) EFO_0011011 4.52e-20 4.52 -20 -0.149 -0.189 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1036.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Sitting height (20015) EFO_0011011 5.31e-18 5.31 -18 0.555 0.452 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 161.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Sitting height (20015) EFO_0011011 2.8e-12 2.8 -12 0.961 0.751 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 38.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON PAPPA2 Leg predicted mass left (23118) EFO_0004302 8.92e-13 8.92 -13 -0.076 -0.104 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 1621.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGFALS Leg predicted mass left (23118) EFO_0004302 2.08e-13 2.08 -13 -0.071 -0.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 1957.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PDE3B Sitting height (20015) EFO_0011011 1.71e-16 1.71 -16 0.194 0.157 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1214.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Leg predicted mass left (23118) EFO_0004302 4.4300000000000005e-21 4.43 -21 0.283 0.234 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 554.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC13A1 Sitting height (20015) EFO_0011011 2.31e-16 2.31 -16 -0.059 -0.078 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 4951.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NPR2 Sitting height (20015) EFO_0011011 1.21e-15 1.21 -15 -0.202 -0.267 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 394.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ZFAT Leg predicted mass left (23118) EFO_0004302 7.850000000000001e-27 7.85 -27 0.135 0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 3011.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PDE3B Leg predicted mass left (23118) EFO_0004302 7.59e-14 7.59 -14 0.122 0.096 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 2067.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PAPPA Sitting height (20015) EFO_0011011 5.04e-12 5.04 -12 -0.085 -0.118 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1504.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Sitting height (20015) EFO_0011011 3.84e-18 3.84 -18 -0.058 -0.075 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 5952.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON NPR2 Sitting height (20015) EFO_0011011 8.200000000000001e-22 8.2 -22 -0.139 -0.174 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1332.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SMAD6 Sitting height (20015) EFO_0011011 6.11e-16 6.11 -16 0.173 0.139 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1487.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PIEZO1 Sitting height (20015) EFO_0011011 1.12e-18 1.12 -18 -0.03 -0.038 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 24970.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PAPPA2 Sitting height (20015) EFO_0011011 1.51e-13 1.51 -13 -0.08 -0.109 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 2053.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON WNT1 Sitting height (20015) EFO_0011011 1.12e-12 1.12 -12 -0.173 -0.238 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 394.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Leg predicted mass left (23118) EFO_0004302 1.01e-16 1.01 -16 0.427 0.345 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 197.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PDE3B Leg predicted mass left (23118) EFO_0004302 7.59e-14 7.59 -14 0.122 0.096 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 2067.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MLH1 ICD10 Z08: Encounter for follow-up examination after completed treatment for malignant neoplasm EFO_0004542 2.08e-22 2.08 -22 7.764 11.729 EUR HANCESTRO_0005 UK Biobank 450k GCST90081200 387917 6079 42.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 6.48e-13 6.48 -13 9.703 18.026 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 21.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON CHEK2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 1.64e-19 1.64 -19 2.558 3.136 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 131.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 1.44e-31 1.44 -31 2.36 2.726 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 262.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SF3B1 Mean corpuscular volume (30040) EFO_0004526 1.39e-20 1.39 -20 0.501 0.413 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 394.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Arm fat free mass left (23125) EFO_0004995 1.07e-16 1.07 -16 -0.048 -0.063 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 5843.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Arm fat free mass left (23125) EFO_0004995 9.28e-12 9.28 -12 0.346 0.269 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 213.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON CAD Mean corpuscular volume (30040) EFO_0004526 8.9e-19 8.9 -19 0.534 0.437 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 319.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON MED17 Mean corpuscular volume (30040) EFO_0004526 8.03e-15 8.03 -15 -0.328 -0.439 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 243.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean corpuscular volume (30040) EFO_0004526 4.71e-17 4.71 -17 -1.715 -2.237 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON POLE Mean corpuscular volume (30040) EFO_0004526 2.13e-32 2.13 -32 0.198 0.17 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 3802.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBA2 Mean corpuscular volume (30040) EFO_0004526 1.13e-20 1.13 -20 -1.04 -1.317 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 39.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 Mean corpuscular volume (30040) EFO_0004526 1.4e-13 1.4 -13 -0.14 -0.191 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1167.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TFR2 Mean corpuscular volume (30040) EFO_0004526 1.09e-27 1.09 -27 0.195 0.166 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 3379.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RTEL1 Mean corpuscular volume (30040) EFO_0004526 9.61e-12 9.61 -12 0.626 0.486 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 152.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON CHEK2 Mean corpuscular volume (30040) EFO_0004526 2.71e-19 2.71 -19 -0.078 -0.1 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 6989.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON E2F4 Mean corpuscular volume (30040) EFO_0004526 5.95e-13 5.95 -13 0.785 0.617 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 106.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TFRC Mean corpuscular volume (30040) EFO_0004526 5.11e-50 5.11 -50 -1.223 -1.408 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 87.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R Arm fat free mass left (23125) EFO_0004995 7.48e-12 7.48 -12 -0.073 -0.102 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 1485.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON POLE Mean corpuscular volume (30040) EFO_0004526 1.11e-12 1.11 -12 0.226 0.177 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1257.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC4R Arm fat free mass left (23125) EFO_0004995 1.15e-12 1.15 -12 0.371 0.291 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 197.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON E2F8 Mean corpuscular volume (30040) EFO_0004526 2.49e-16 2.49 -16 0.541 0.437 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 273.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Arm fat free mass left (23125) EFO_0004995 1.07e-16 1.07 -16 -0.048 -0.063 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 5843.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RTTN Mean corpuscular volume (30040) EFO_0004526 1.79e-12 1.79 -12 -0.044 -0.061 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 10444.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular volume (30040) EFO_0004526 4.71e-17 4.71 -17 -1.715 -2.237 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CCNF Mean corpuscular volume (30040) EFO_0004526 2.81e-12 2.81 -12 0.255 0.199 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 963.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACAN Arm fat free mass left (23125) EFO_0004995 6.83e-17 6.83 -17 -0.553 -0.723 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 44.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON KLF1 Mean corpuscular volume (30040) EFO_0004526 8.68e-20 8.68 -20 -0.729 -0.929 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 75.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON HBB Mean corpuscular volume (30040) EFO_0004526 1.92e-18 1.92 -18 -1.893 -2.439 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 10.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ATR Mean corpuscular volume (30040) EFO_0004526 3.06e-14 3.06 -14 -0.184 -0.247 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 737.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SCUBE3 Arm fat free mass left (23125) EFO_0004995 7.48e-13 7.48 -13 -0.066 -0.091 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 2062.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON E2F4 Mean corpuscular volume (30040) EFO_0004526 4.66e-24 4.66 -24 2.174 1.821 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 24.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Arm fat free mass left (23125) EFO_0004995 1.73e-13 1.73 -13 0.335 0.264 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 257.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CAD Mean corpuscular volume (30040) EFO_0004526 2.86e-27 2.86 -27 0.345 0.292 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1068.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ATR Mean corpuscular volume (30040) EFO_0004526 8.91e-16 8.91 -16 -0.088 -0.116 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 3756.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN ICD10 I50.0: Congestive heart failure (I50.0) EFO_0000373 8.83e-17 8.83 -17 2.553 3.183 EUR HANCESTRO_0005 UK Biobank 450k GCST90080020 387930 3182 110.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TTN ICD10 I34.0: Nonrheumatic mitral (valve) insufficiency EFO_0009557 8.28e-12 8.28 -12 4.722 7.37 EUR HANCESTRO_0005 UK Biobank 450k GCST90079991 387332 2987 31.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON APC ICD10 D12.8: Benign neoplasm of rectum EFO_0002422 1.01e-12 1.01 -12 16.669 36.126 EUR HANCESTRO_0005 UK Biobank 450k GCST90079661 387930 4111 14.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APOB LipidLowering Med (RGC) EFO_0007010 3.97e-12 3.97 -12 0.651 0.735 EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 341.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOB LipidLowering Med (RGC) EFO_0007010 1.41e-21 1.41 -21 0.267 0.35 EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 45.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON RRBP1 Apolipoprotein B (30640) EFO_0004615 3e-18 3.0 -18 -0.642 -0.829 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 92.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.11e-11 1.11 -11 2.39 1.855 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SEC23B Red blood cell erythrocyte distribution width (30070) EFO_0009188 7.87e-19 7.87 -19 0.7 0.573 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 203.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PIEZO1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.06e-18 5.06 -18 0.108 0.088 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 8354.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TFRC Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.0199999999999995e-25 6.02 -25 1.215 1.021 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 87.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON KLF1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.89e-22 5.89 -22 0.763 0.634 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 197.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACVR1C Birth weight (20022) EFO_0004344 2.2800000000000002e-29 2.28 -29 0.348 0.296 EUR HANCESTRO_0005 UK Biobank 450k GCST90078251 247016 247016 1353.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Apolipoprotein B (30640) EFO_0004615 1.96e-53 1.96 -53 0.438 0.388 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 1421.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CAD Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.56e-22 5.56 -22 0.739 0.614 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 210.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TMPRSS6 Red blood cell erythrocyte distribution width (30070) EFO_0009188 8.03e-41 8.03 -41 0.746 0.651 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 361.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASXL1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 4.65e-23 4.65 -23 0.357 0.298 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 937.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON RRBP1 Apolipoprotein B (30640) EFO_0004615 1.0099999999999999e-24 1.01 -24 -0.491 -0.607 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 238.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.75e-114 1.75 -114 2.307 2.124 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 98.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ALB Apolipoprotein B (30640) EFO_0004615 4.1e-25 4.1 -25 0.929 0.781 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 146.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 Apolipoprotein B (30640) EFO_0004615 9.65e-103 9.65 -103 -0.679 -0.747 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 703.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PLD1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.58e-51 2.58 -51 0.25 0.221 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 4004.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TFRC Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.8e-11 1.8 -11 1.515 1.173 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 28.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON HSPA9 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.7e-19 1.7 -19 1.225 1.007 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 69.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON CD36 Red blood cell erythrocyte distribution width (30070) EFO_0009188 8.18e-16 8.18 -16 0.323 0.26 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 826.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON JAK2 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.88e-39 6.88 -39 0.297 0.258 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 2165.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FLG Age hay fever rhinitis or eczema diagnosed (3761) EFO_0003956 1.7999999999999998e-35 1.8 -35 -0.179 -0.213 EUR HANCESTRO_0005 UK Biobank 450k GCST90079072 88602 88602 3170.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON FLG Age hay fever rhinitis or eczema diagnosed (3761) EFO_0003956 2.02e-12 2.02 -12 -0.163 -0.226 EUR HANCESTRO_0005 UK Biobank 450k GCST90079072 88602 88602 880.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON FLG Age hay fever rhinitis or eczema diagnosed (3761) EFO_0004847 6.22e-20 6.22 -20 -0.176 -0.224 EUR HANCESTRO_0005 UK Biobank 450k GCST90079072 88602 88602 1529.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON FLG Age hay fever rhinitis or eczema diagnosed (3761) EFO_0004847 2.02e-12 2.02 -12 -0.163 -0.226 EUR HANCESTRO_0005 UK Biobank 450k GCST90079072 88602 88602 880.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 8.03e-20 8.03 -20 10.366 17.141 EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 30.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON FLG Age hay fever rhinitis or eczema diagnosed (3761) EFO_0004847 6.22e-20 6.22 -20 -0.176 -0.224 EUR HANCESTRO_0005 UK Biobank 450k GCST90079072 88602 88602 1529.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CSF2RB Eosinophil count (30150) EFO_0004842 8.56e-38 8.56 -38 -0.406 -0.479 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 616.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SF3B1 Haemoglobin concentration (30020) EFO_0004509 1.64e-11 1.64 -11 -0.18 -0.254 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 394.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Haemoglobin concentration (30020) EFO_0004509 5.62e-65 5.62 -65 -1.298 -1.467 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SH2B3 Eosinophil count (30150) EFO_0004842 1.23e-20 1.23 -20 0.171 0.142 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 3691.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TMPRSS6 Haemoglobin concentration (30020) EFO_0004509 8.22e-24 8.22 -24 -0.162 -0.201 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1412.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 Eosinophil count (30150) EFO_0004842 7.239999999999999e-52 7.24 -52 -0.313 -0.36 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 1515.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LPA Lipoprotein A (30790) EFO_0006925 4.06e-16 4.06 -16 -0.281 -0.37 EUR HANCESTRO_0005 UK Biobank 450k GCST90079034 329317 329317 483.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 Eosinophil count (30150) EFO_0004842 4.24e-57 4.24 -57 -0.305 -0.348 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 1791.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Haemoglobin concentration (30020) EFO_0004509 1.27e-133 1.27 -133 -1.712 -1.86 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 98.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON DNMT3A Platelet crit (30090) EFO_0007985 2.71e-13 2.71 -13 0.115 0.09 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 5081.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON THPO Platelet crit (30090) EFO_0007985 2e-32 2.0 -32 -1.119 -1.34 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 60.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PTPRH Platelet crit (30090) EFO_0007985 1.07e-20 1.07 -20 -0.162 -0.205 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 1583.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SH2B3 Platelet crit (30090) EFO_0007985 4.46e-248 4.46 -248 0.514 0.486 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 3695.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RUNX1 Platelet crit (30090) EFO_0007985 2.92e-13 2.92 -13 -0.912 -1.247 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 26.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Platelet crit (30090) EFO_0007985 1.56e-11 1.56 -11 -0.177 -0.249 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 557.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BAK1 Platelet crit (30090) EFO_0007985 1.02e-15 1.02 -15 0.402 0.323 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 475.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON THPO Platelet crit (30090) EFO_0007985 6.37e-17 6.37 -17 -0.284 -0.371 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 390.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GP1BA Platelet crit (30090) EFO_0007985 3.23e-12 3.23 -12 -0.328 -0.456 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 178.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BAK1 Platelet crit (30090) EFO_0007985 2.98e-19 2.98 -19 0.326 0.268 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 863.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON JAK2 Platelet crit (30090) EFO_0007985 1.4700000000000002e-27 1.47 -27 0.895 0.758 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 159.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PTPRH Platelet crit (30090) EFO_0007985 7.9e-19 7.9 -19 -0.157 -0.201 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 1477.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TUBB1 Platelet crit (30090) EFO_0007985 1.3399999999999999e-45 1.34 -45 -0.545 -0.633 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 382.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LRP5 Speed of sound through heel left (4103) EFO_0005654 1.82e-11 1.82 -11 -0.731 -1.032 EUR HANCESTRO_0005 UK Biobank 450k GCST90079150 166283 166283 34.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MEPE Speed of sound through heel left (4103) EFO_0005654 1.19e-23 1.19 -23 -0.283 -0.352 EUR HANCESTRO_0005 UK Biobank 450k GCST90079150 166283 166283 651.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Trunk fat mass (23128) EFO_0005409 4.51e-20 4.51 -20 0.341 0.281 EUR HANCESTRO_0005 UK Biobank 450k GCST90078931 423433 423433 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Trunk fat mass (23128) EFO_0005409 1.16e-11 1.16 -11 0.583 0.452 EUR HANCESTRO_0005 UK Biobank 450k GCST90078931 423433 423433 197.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK Non cancer illness code self reported - diabetes EFO_0000400 4.71e-16 4.71 -16 17.612 35.203 EUR HANCESTRO_0005 UK Biobank 450k GCST90077722 331754 17927 21.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 4.52e-24 4.52 -24 23.55 43.422 EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 32.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HNF1A ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 1.58e-11 1.58 -11 5.739 9.539 EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 29.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS17 Comparative height size at age 10 - Shorter (1697) EFO_0004339 1.37e-17 1.37 -17 2.619 3.266 EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 156.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADAMTS17 Comparative height size at age 10 - Shorter (1697) EFO_0004339 5.83e-20 5.83 -20 1.415 1.525 EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 1083.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PLIN1 Reticulocyte count (30250) EFO_0007986 1.69e-11 1.69 -11 -0.153 -0.216 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 840.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Reticulocyte count (30250) EFO_0007986 1.25e-18 1.25 -18 0.239 0.196 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1754.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON IFRD2 Reticulocyte count (30250) EFO_0007986 4.15e-74 4.15 -74 0.377 0.341 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 2475.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SH2B3 Reticulocyte count (30250) EFO_0007986 1.7e-12 1.7 -12 0.187 0.146 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 2024.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Reticulocyte count (30250) EFO_0007986 5.870000000000001e-26 5.87 -26 1.186 1.0 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 96.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RNF10 Reticulocyte count (30250) EFO_0007986 5.73e-12 5.73 -12 1.06 0.825 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 60.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON RHAG Reticulocyte count (30250) EFO_0007986 3.88e-45 3.88 -45 1.046 0.918 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 204.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Reticulocyte count (30250) EFO_0007986 2.11e-15 2.11 -15 0.237 0.19 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1508.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 Reticulocyte count (30250) EFO_0007986 1.4e-15 1.4 -15 0.239 0.192 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1495.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SRSF2 Reticulocyte count (30250) EFO_0007986 1.95e-31 1.95 -31 0.958 0.82 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 175.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPTB Reticulocyte count (30250) EFO_0007986 5.09e-16 5.09 -16 1.377 1.109 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 46.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON SPTA1 Reticulocyte count (30250) EFO_0007986 6.16e-39 6.16 -39 0.811 0.705 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 299.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC4A1 Reticulocyte count (30250) EFO_0007986 5.81e-25 5.81 -25 1.269 1.066 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 81.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON EPB41 Reticulocyte count (30250) EFO_0007986 4.3e-20 4.3 -20 0.778 0.641 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 179.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 C80: Malignant neoplasm without specification of site EFO_0000616 1.74e-13 1.74 -13 3.326 4.579 EUR HANCESTRO_0005 UK Biobank 450k GCST90079632 387252 2342 55.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 ICD10 C80: Malignant neoplasm without specification of site EFO_0000616 6.33e-18 6.33 -18 5.925 8.877 EUR HANCESTRO_0005 UK Biobank 450k GCST90079632 387252 2342 40.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MYOC Non cancer illness code self reported - glaucoma EFO_0000516 2.47e-15 2.47 -15 3.02 3.971 EUR HANCESTRO_0005 UK Biobank 450k GCST90077754 331754 5059 75.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Arm fat percentage right (23119) EFO_0007800 7.4e-12 7.4 -12 0.446 0.347 EUR HANCESTRO_0005 UK Biobank 450k GCST90078922 423608 423608 197.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Arm fat percentage right (23119) EFO_0007800 1.1e-21 1.1 -21 0.237 0.196 EUR HANCESTRO_0005 UK Biobank 450k GCST90078922 423608 423608 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Arm fat percentage right (23119) EFO_0007800 7.4e-12 7.4 -12 0.446 0.347 EUR HANCESTRO_0005 UK Biobank 450k GCST90078922 423608 423608 197.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR ICD10 I25.9: Chronic ischemic heart disease, unspecified EFO_0003777 1.14e-13 1.14 -13 2.106 2.563 EUR HANCESTRO_0005 UK Biobank 450k GCST90079981 386241 17106 141.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TNFRSF13B Neutrophil percentage (30200) EFO_0007990 2.91e-17 2.91 -17 0.117 0.095 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 7135.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MIP ICD10 H26.9: Unspecified cataract MONDO_0005129 5.410000000000001e-27 5.41 -27 7.182 10.285 EUR HANCESTRO_0005 UK Biobank 450k GCST90079892 387427 17761 60.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GRK6 Neutrophil percentage (30200) EFO_0007990 5.03e-12 5.03 -12 0.222 0.173 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 1434.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CSF3R Neutrophil percentage (30200) EFO_0007990 2.54e-14 2.54 -14 0.197 0.156 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 2141.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CXCL2 Neutrophil percentage (30200) EFO_0007990 2.43e-14 2.43 -14 -0.531 -0.715 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 102.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MYD88 Neutrophil percentage (30200) EFO_0007990 6.630000000000001e-26 6.63 -26 -0.692 -0.851 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 137.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CXCL2 Neutrophil percentage (30200) EFO_0007990 2.42e-12 2.42 -12 -0.426 -0.591 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 126.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CXCR2 Neutrophil percentage (30200) EFO_0007990 2.3e-12 2.3 -12 -0.262 -0.363 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 335.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MIP ICD10 H26.9: Unspecified cataract MONDO_0005129 5.410000000000001e-27 5.41 -27 7.182 10.285 EUR HANCESTRO_0005 UK Biobank 450k GCST90079892 387427 17761 60.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CXCR2 Neutrophil count (30140) EFO_0004833 2.03e-22 2.03 -22 -0.4 -0.501 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 335.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CXCL6 Neutrophil count (30140) EFO_0004833 1.24e-24 1.24 -24 -0.099 -0.123 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 6207.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 ICD10 N18: Chronic kidney disease (CKD) EFO_0003884 9.920000000000001e-43 9.92 -43 13.222 19.129 EUR HANCESTRO_0005 UK Biobank 450k GCST90080584 382843 10144 63.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 ICD10 N18: Chronic kidney disease (CKD) EFO_0003884 4.32e-25 4.32 -25 3.279 4.106 EUR HANCESTRO_0005 UK Biobank 450k GCST90080584 382843 10144 116.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 Neutrophil count (30140) EFO_0004833 9.78e-17 9.78 -17 -0.153 -0.2 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 1529.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON CXCR2 Neutrophil count (30140) EFO_0004833 2.03e-22 2.03 -22 -0.4 -0.501 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 335.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD1 ICD10 N18: Chronic kidney disease (CKD) EFO_0003884 3.63e-31 3.63 -31 7.346 10.286 EUR HANCESTRO_0005 UK Biobank 450k GCST90080584 382843 10144 65.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON WNT1 Heel quantitative ultrasound index QUI direct entry left (4104) EFO_0004514 3.12e-13 3.12 -13 -0.368 -0.503 EUR HANCESTRO_0005 UK Biobank 450k GCST90079151 166283 166283 164.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON WNT1 Heel quantitative ultrasound index QUI direct entry left (4104) EFO_0004514 4.6e-13 4.6 -13 -0.361 -0.495 EUR HANCESTRO_0005 UK Biobank 450k GCST90079151 166283 166283 167.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NOTCH1 Type of Cancer: Lymphoid leukemia (40006) EFO_0004289 5.93e-25 5.93 -25 361.99 1108.67 EUR HANCESTRO_0005 UK Biobank 450k GCST90079125 74230 699 14.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON NOTCH1 Type of Cancer: Lymphoid leukemia (40006) EFO_0004289 5.93e-25 5.93 -25 361.99 1108.67 EUR HANCESTRO_0005 UK Biobank 450k GCST90079125 74230 699 14.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Treatment or Medication Code - digoxin EFO_0007010 8.93e-16 8.93 -16 5.387 8.122 EUR HANCESTRO_0005 UK Biobank 450k GCST90078240 320758 1185 38.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON FLG AllergicDiseaseCases vs AllergicDiseaseControls (RGC) MONDO_0005271 8.5e-23 8.5 -23 1.256 1.314 EUR HANCESTRO_0005 UK Biobank 450k GCST90081451 354024 73382 2766.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GCK T2D (RGC) MONDO_0005148 6.810000000000001e-47 6.81 -47 14.076 20.184 EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 79.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GCK Non cancer illness code self reported - type 2 diabetes MONDO_0005148 2.64e-15 2.64 -15 9.982 17.656 EUR HANCESTRO_0005 UK Biobank 450k GCST90077724 331754 3497 23.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GCK T2D (RGC) MONDO_0005148 2.38e-19 2.38 -19 20.963 40.683 EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 27.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ADAMTS17 Comparative height size at age 10 - Taller (1697) EFO_0004339 1.46e-19 1.46 -19 0.624 0.691 EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 442.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Comparative height size at age 10 - Taller (1697) EFO_0004339 7.56e-16 7.56 -16 1.577 1.761 EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 558.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Comparative height size at age 10 - Taller (1697) EFO_0004339 3.84e-19 3.84 -19 1.448 1.571 EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 1008.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PROS1 ICD10 I26: Pulmonary embolism EFO_0003827 8.19e-12 8.19 -12 2.771 3.712 EUR HANCESTRO_0005 UK Biobank 450k GCST90079984 387206 5221 63.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PROS1 ICD10 I26: Pulmonary embolism EFO_0003827 1.63e-14 1.63 -14 10.699 19.595 EUR HANCESTRO_0005 UK Biobank 450k GCST90079984 387206 5221 21.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON FLG ICD10 J45.9: Other and unspecified asthma MONDO_0004979 3.84e-12 3.84 -12 1.225 1.298 EUR HANCESTRO_0005 UK Biobank 450k GCST90080140 385754 38114 1461.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CACNA1F Age started wearing glasses or contact lenses (2217) EFO_0004731 7.67e-13 7.67 -13 -0.471 -0.648 EUR HANCESTRO_0005 UK Biobank 450k GCST90078869 374837 374837 64.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON CAD Mean sphered cell volume (30270) EFO_0004526 1.23e-20 1.23 -20 0.165 0.136 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 3894.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TYMP Mean sphered cell volume (30270) EFO_0004526 3.92e-12 3.92 -12 -0.111 -0.155 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 1658.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 1.2e-19 1.2 -19 -1.521 -1.941 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 18.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON NPC1 Mean sphered cell volume (30270) EFO_0004526 6.38e-13 6.38 -13 -0.097 -0.133 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 2705.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SF3B1 Mean sphered cell volume (30270) EFO_0004526 1.44e-12 1.44 -12 0.416 0.326 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 390.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TFRC Mean sphered cell volume (30270) EFO_0004526 1.11e-15 1.11 -15 -0.6 -0.794 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 84.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOC3 Mean sphered cell volume (30270) EFO_0004526 8.09e-16 8.09 -16 0.195 0.157 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 2176.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON OR6K2 Mean sphered cell volume (30270) EFO_0004526 2.3e-12 2.3 -12 0.124 0.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 4410.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC1R Hair colour natural before greying - Black (1747) EFO_0007822 1.1800000000000001e-36 1.18 -36 0.337 0.399 EUR HANCESTRO_0005 UK Biobank 450k GCST90077610 429979 20623 102.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PTPRH Mean sphered cell volume (30270) EFO_0004526 2.62e-12 2.62 -12 0.133 0.104 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 3786.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TYMP Mean sphered cell volume (30270) EFO_0004526 3.92e-12 3.92 -12 -0.111 -0.155 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 1658.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANK1 Mean sphered cell volume (30270) EFO_0004526 8.51e-15 8.51 -15 -0.477 -0.638 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 123.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SPTA1 Mean sphered cell volume (30270) EFO_0004526 7.41e-34 7.41 -34 -0.488 -0.581 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 365.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SRSF2 ICD10 Z51.3: Blood transfusion without reported diagnosis (Z51.3) 1.56e-12 1.56 -12 17.671 39.182 EUR HANCESTRO_0005 UK Biobank 450k GCST90081281 387930 1195 13.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MYD88 Type of Cancer: Chronic lymphocytic leukemia of B-cell type (40006) EFO_0000095 7.22e-14 7.22 -14 25.5 59.552 EUR HANCESTRO_0005 UK Biobank 450k GCST90079124 74230 571 13.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NOTCH1 Type of Cancer: Chronic lymphocytic leukemia of B-cell type (40006) EFO_0000095 6.270000000000001e-27 6.27 -27 480.545 1482.21 EUR HANCESTRO_0005 UK Biobank 450k GCST90079124 74230 571 14.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SF3B1 Type of Cancer: Chronic lymphocytic leukemia of B-cell type (40006) EFO_0000095 7.96e-14 7.96 -14 18.087 38.657 EUR HANCESTRO_0005 UK Biobank 450k GCST90079124 74230 571 15.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN ICD10 I48: Atrial fibrillation and flutter EFO_0000275 3.95e-25 3.95 -25 1.771 1.974 EUR HANCESTRO_0005 UK Biobank 450k GCST90080015 386856 20107 452.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON RPL3L ICD10 I48: Atrial fibrillation and flutter EFO_0000275 5.16e-12 5.16 -12 1.667 1.928 EUR HANCESTRO_0005 UK Biobank 450k GCST90080015 386856 20107 246.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON OCA2 Ease of skin tanning - Get mildly or occasionally tanned (1727) EFO_0007009 3.4000000000000004e-74 3.4 -74 1.509 1.578 EUR HANCESTRO_0005 UK Biobank 450k GCST90077604 422570 93163 3129.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CHD2 Lymphocyte percentage (30180) EFO_0007993 1.21e-13 1.21 -13 1.36 1.076 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 41.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON RASA2 Lymphocyte percentage (30180) EFO_0007993 1.15e-16 1.15 -16 -0.189 -0.248 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 970.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NF1 Lymphocyte percentage (30180) EFO_0007993 9.4e-17 9.4 -17 -0.404 -0.529 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 214.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON RASA2 Lymphocyte percentage (30180) EFO_0007993 1.37e-12 1.37 -12 -0.289 -0.399 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 273.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC45A2 Ease of skin tanning - Get mildly or occasionally tanned (1727) EFO_0007009 9.23e-12 9.23 -12 1.725 2.018 EUR HANCESTRO_0005 UK Biobank 450k GCST90077604 422570 93163 263.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TYR Ease of skin tanning - Get mildly or occasionally tanned (1727) EFO_0007009 6.59e-12 6.59 -12 1.364 1.491 EUR HANCESTRO_0005 UK Biobank 450k GCST90077604 422570 93163 742.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TYRP1 Ease of skin tanning - Get mildly or occasionally tanned (1727) EFO_0007009 4.25e-12 4.25 -12 1.399 1.539 EUR HANCESTRO_0005 UK Biobank 450k GCST90077604 422570 93163 652.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CXCL2 Lymphocyte percentage (30180) EFO_0007993 6.76e-13 6.76 -13 0.843 0.662 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 102.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 5.88e-12 5.88 -12 -1.281 -1.791 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.11e-81 3.11 -81 -1.797 -2.003 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TMPRSS6 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.07e-13 2.07 -13 -0.121 -0.166 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 1822.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC4A1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.1e-15 2.1 -15 1.52 1.219 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 39.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 1.59e-19 1.59 -19 2.499 3.047 EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 142.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TMPRSS6 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.07e-13 2.07 -13 -0.121 -0.166 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 1822.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.11e-81 3.11 -81 -1.797 -2.003 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.89e-13 3.89 -13 -1.456 -1.994 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 14.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.43e-128 2.43 -128 -2.149 -2.339 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 98.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 1.79e-14 1.79 -14 -1.731 -2.326 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 10.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON THBS3 Impedance of arm left (23110) HP_0000924 1.71e-13 1.71 -13 -0.054 -0.074 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 4410.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Impedance of arm left (23110) HP_0000924 4.82e-16 4.82 -16 0.212 0.171 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 987.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ANTXR1 Impedance of arm left (23110) HP_0000924 2.85e-13 2.85 -13 -0.145 -0.199 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 588.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON THBS4 Impedance of arm left (23110) HP_0000924 5.59e-17 5.59 -17 -0.053 -0.069 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 6441.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Impedance of arm left (23110) HP_0000924 1.26e-32 1.26 -32 0.178 0.153 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 2646.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Impedance of arm left (23110) HP_0000924 3.84e-30 3.84 -30 0.134 0.114 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 4408.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON FBN2 Impedance of arm left (23110) HP_0000924 2.02e-11 2.02 -11 0.28 0.217 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 415.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ADAMTS17 Impedance of arm left (23110) HP_0000924 1.65e-11 1.65 -11 -0.158 -0.223 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 394.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS17 Impedance of arm left (23110) HP_0000924 9.36e-18 9.36 -18 -0.088 -0.114 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 2462.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON FBN2 Impedance of arm left (23110) HP_0000924 8.15e-12 8.15 -12 0.469 0.365 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 152.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ASXL1 Age stopped smoking (2897) EFO_0004319 3.35e-16 3.35 -16 0.451 0.364 EUR HANCESTRO_0005 UK Biobank 450k GCST90078969 108447 108447 458.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ABCA3 FEV1 FVC ratio Z score (20258) EFO_0004713 1.63e-18 1.63 -18 0.104 0.085 EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 9750.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HMCN1 FEV1 FVC ratio Z score (20258) EFO_0004713 8.58e-28 8.58 -28 0.094 0.079 EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 17949.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ATM ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 9.6e-15 9.6 -15 2.962 3.899 EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 77.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HMCN1 FEV1 FVC ratio Z score (20258) EFO_0004713 1.07e-11 1.07 -11 0.586 0.455 EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 202.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON PKD1 ICD10 I10: Essential (primary) hypertension MONDO_0001134 5.07e-13 5.07 -13 2.187 2.704 EUR HANCESTRO_0005 UK Biobank 450k GCST90079962 374207 105117 183.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ACVRL1 ICD10 R04.0: Epistaxis EFO_0003895 1.12e-11 1.12 -11 36.284 102.305 EUR HANCESTRO_0005 UK Biobank 450k GCST90080761 385081 3559 9.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CYR61 Impedance of arm right (23109) HP_0000924 4e-16 4.0 -16 0.076 0.061 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 7639.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Impedance of arm right (23109) HP_0000924 1.53e-41 1.53 -41 0.198 0.173 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 2646.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ZFAT Whole body fat mass (23100) EFO_0005409 9.54e-13 9.54 -13 0.101 0.08 EUR HANCESTRO_0005 UK Biobank 450k GCST90078904 423023 423023 6702.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GCK Non cancer illness code self reported - diabetes/ICD10 E14 EFO_0000400 1.7e-15 1.7 -15 4.718 6.912 EUR HANCESTRO_0005 UK Biobank 450k GCST90077723 329052 16961 47.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON FLG Non cancer illness code self reported - eczema dermatitis/ICD10 L30 EFO_0005319 3.7800000000000003e-29 3.78 -29 1.717 1.888 EUR HANCESTRO_0005 UK Biobank 450k GCST90077854 329052 10233 550.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z51: Encounter for other aftercare and medical care EFO_0004542 8.25e-20 8.25 -20 2.147 2.531 EUR HANCESTRO_0005 UK Biobank 450k GCST90081286 383746 34913 208.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Treatment or Medication Code - spironolactone EFO_0007010 4.36e-13 4.36 -13 5.639 9.004 EUR HANCESTRO_0005 UK Biobank 450k GCST90078038 320758 859 29.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC4R Leg fat percentage left (23115) EFO_0007800 1.54e-17 1.54 -17 0.197 0.161 EUR HANCESTRO_0005 UK Biobank 450k GCST90078918 423643 423643 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 ICD10 Z51: Encounter for other aftercare and medical care EFO_0004542 1.49e-24 1.49 -24 2.209 2.571 EUR HANCESTRO_0005 UK Biobank 450k GCST90081286 383746 34913 246.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MEPE Heel quantitative ultrasound index QUI direct entry right (4123) EFO_0004514 7.59e-24 7.59 -24 -0.279 -0.346 EUR HANCESTRO_0005 UK Biobank 450k GCST90079157 166358 166358 653.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TTN ICD10 I47: Paroxysmal tachycardia EFO_0009493 5.12e-14 5.12 -14 2.848 3.74 EUR HANCESTRO_0005 UK Biobank 450k GCST90080013 387060 4268 73.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON UGT1A8 Total bilirubin (30840) EFO_0004570 1e-15 10.0 -16 0.532 0.428 SAS HANCESTRO_0006 UK Biobank 450k 9811 9811 342.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Total bilirubin (30840) EFO_0004570 1.69e-13 1.69 -13 0.718 0.567 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 105.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RHAG Total bilirubin (30840) EFO_0004570 5.03e-14 5.03 -14 0.347 0.275 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 464.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A6 Total bilirubin (30840) EFO_0004570 4.79e-12 4.79 -12 0.581 0.452 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 200.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON UGT1A6 Total bilirubin (30840) EFO_0004570 1.8999999999999998e-62 1.9 -62 0.564 0.504 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 938.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON UGT1A7 Total bilirubin (30840) EFO_0004570 3.15e-15 3.15 -15 0.529 0.424 SAS HANCESTRO_0006 UK Biobank 450k 9811 9811 336.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A5 Total bilirubin (30840) EFO_0004570 2.74e-13 2.74 -13 0.538 0.424 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 254.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON UGT1A3 Total bilirubin (30840) EFO_0004570 2.91e-14 2.91 -14 0.193 0.154 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 2103.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A7 Total bilirubin (30840) EFO_0004570 2.9799999999999998e-53 2.98 -53 0.515 0.457 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 969.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON UGT1A4 Total bilirubin (30840) EFO_0004570 1.98e-14 1.98 -14 0.62 0.493 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 206.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON UGT1A9 Total bilirubin (30840) EFO_0004570 9.240000000000001e-32 9.24 -32 0.651 0.558 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 379.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Total bilirubin (30840) EFO_0004570 1.69e-13 1.69 -13 0.718 0.567 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 105.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A1 Total bilirubin (30840) EFO_0004570 1.2300000000000001e-36 1.23 -36 0.968 0.838 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 195.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 ICD10 C78.6: Secondary malignant neoplasm of retroperitoneum and peritoneum EFO_0009812 9.37e-17 9.37 -17 4.126 5.763 EUR HANCESTRO_0005 UK Biobank 450k GCST90079623 387930 1833 53.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLCO1B3 Total bilirubin (30840) EFO_0004570 6.36e-15 6.36 -15 0.383 0.306 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 414.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON UGT1A9 Total bilirubin (30840) EFO_0004570 9.240000000000001e-32 9.24 -32 0.651 0.558 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 379.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON UGT1A3 Total bilirubin (30840) EFO_0004570 5.21e-17 5.21 -17 0.587 0.476 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 266.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC4A1 Total bilirubin (30840) EFO_0004570 1.81e-12 1.81 -12 0.211 0.165 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1129.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 C78.6: Secondary malignant neoplasm of retroperitoneum and peritoneum EFO_0009812 3.04e-12 3.04 -12 8.118 14.62 EUR HANCESTRO_0005 UK Biobank 450k GCST90079623 387930 1833 20.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC4A1 Total bilirubin (30840) EFO_0004570 2.2e-14 2.2 -14 0.834 0.664 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 82.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS17 Forced expiratory volume in 1 second FEV1 Best measure (20150) EFO_0004314 4.6e-12 4.6 -12 -0.061 -0.086 EUR HANCESTRO_0005 UK Biobank 450k GCST90078316 322002 322002 3138.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Forced expiratory volume in 1 second FEV1 Best measure (20150) EFO_0004314 1.96e-12 1.96 -12 -0.079 -0.109 EUR HANCESTRO_0005 UK Biobank 450k GCST90078316 322002 322002 2001.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON OCA2 Skin colour - Dark olive (1717) EFO_0003784 2.0099999999999997e-23 2.01 -23 0.357 0.437 EUR HANCESTRO_0005 UK Biobank 450k GCST90077600 425361 7210 64.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 5.49e-12 5.49 -12 4.106 6.135 EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 37.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Eosinophil percentage (30210) EFO_0007991 3.3300000000000004e-47 3.33 -47 -0.298 -0.345 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 1529.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON DNMT3A Eosinophil percentage (30210) EFO_0007991 1.47e-16 1.47 -16 -0.083 -0.109 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 5068.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CCR3 Eosinophil percentage (30210) EFO_0007991 6.19e-12 6.19 -12 0.224 0.174 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 1350.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON DNMT3A Eosinophil percentage (30210) EFO_0007991 7.13e-14 7.13 -14 -0.075 -0.102 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 4765.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CSF2RB Eosinophil percentage (30210) EFO_0007991 9.62e-39 9.62 -39 -0.417 -0.491 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 616.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SRSF2 Eosinophil percentage (30210) EFO_0007991 3.68e-12 3.68 -12 -0.345 -0.481 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 182.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 1.91e-31 1.91 -31 6.818 9.412 EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 66.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGF1R Basal metabolic rate (23105) EFO_0007777 3.38e-19 3.38 -19 -0.305 -0.39 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 185.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ZFAT Basal metabolic rate (23105) EFO_0007777 2.44e-62 2.44 -62 0.136 0.121 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 6712.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PAPPA2 Basal metabolic rate (23105) EFO_0007777 1.14e-11 1.14 -11 -0.064 -0.09 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 2008.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Basal metabolic rate (23105) EFO_0007777 1.38e-11 1.38 -11 0.397 0.308 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 170.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Basal metabolic rate (23105) EFO_0007777 6.33e-20 6.33 -20 -0.536 -0.682 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 63.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 1.09e-40 1.09 -40 3.707 4.493 EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 165.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 7.65e-16 7.65 -16 1.525 1.69 EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 441.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 8.2e-25 8.2 -25 3.233 4.042 EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 117.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 5.7e-39 5.7 -39 3.887 4.765 EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 149.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR ICD10 E78.00: Pure hypercholesterolemia, unspecified HP_0003124 1.06e-15 1.06 -15 3.456 4.679 EUR HANCESTRO_0005 UK Biobank 450k GCST90079765 375399 5498 63.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MLH1 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 2e-15 2.0 -15 14.571 28.224 EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 20.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 1.59e-22 1.59 -22 4.295 5.755 EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 74.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MSH2 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 2.49e-13 2.49 -13 4.163 6.1 EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 43.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GAS8 Skin colour - Light olive (1717) EFO_0003784 3.21e-16 3.21 -16 0.769 0.819 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 1224.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TYR Skin colour - Light olive (1717) EFO_0003784 2.01e-26 2.01 -26 0.692 0.741 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 1037.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR CAD (RGC) EFO_0001645 6.66e-21 6.66 -21 2.156 2.531 EUR HANCESTRO_0005 UK Biobank 450k GCST90081466 283203 28605 238.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TCF25 Skin colour - Light olive (1717) EFO_0003784 2.02e-14 2.02 -14 1.341 1.445 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 1044.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LPL Apolipoprotein A (30630) EFO_0004732 6.16e-12 6.16 -12 -0.365 -0.511 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 130.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON XPO1 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 2.16e-11 2.16 -11 41.567 123.78 EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 8.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 Illnesses of mother - None of the above group 2 (20110) EFO_0000493 2.89e-14 2.89 -14 0.631 0.71 EUR HANCESTRO_0005 UK Biobank 450k GCST90078283 423686 308506 777.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LIPG Apolipoprotein A (30630) EFO_0004732 6.559999999999999e-23 6.56 -23 0.899 0.75 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 124.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ABCA1 Apolipoprotein A (30630) EFO_0004732 7.21e-12 7.21 -12 -0.461 -0.646 SAS HANCESTRO_0006 UK Biobank 450k 8973 8973 86.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CD36 Apolipoprotein A (30630) EFO_0004732 4.08e-41 4.08 -41 0.23 0.201 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 3255.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SCARB1 Apolipoprotein A (30630) EFO_0004732 2.07e-66 2.07 -66 0.359 0.322 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 2051.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 3mm strong meridian right (5132) EFO_0004731 5.36e-19 5.36 -19 0.939 0.77 EUR HANCESTRO_0005 UK Biobank 450k GCST90079298 103540 103540 108.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MYD88 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 5.29e-20 5.29 -20 35.87 77.175 EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 16.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PPARG Apolipoprotein A (30630) EFO_0004732 1.12e-12 1.12 -12 -0.385 -0.531 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 128.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 Illnesses of mother - None of the above group 2 (20110) EFO_0000493 1.11e-15 1.11 -15 0.519 0.609 EUR HANCESTRO_0005 UK Biobank 450k GCST90078283 423686 308506 376.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TP53 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 1.67e-14 1.67 -14 16.566 33.933 EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 16.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 3mm strong meridian right (5132) EFO_0004731 7.68e-18 7.68 -18 0.486 0.395 EUR HANCESTRO_0005 UK Biobank 450k GCST90079298 103540 103540 383.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CD36 Apolipoprotein A (30630) EFO_0004732 2.72e-28 2.72 -28 0.289 0.245 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1459.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR MI (RGC) EFO_0000612 7.01e-12 7.01 -12 2.158 2.688 EUR HANCESTRO_0005 UK Biobank 450k GCST90081495 422491 17896 114.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR Treatment or Medication Code - rosuvastatin EFO_0007010 5.8e-14 5.8 -14 10.505 19.404 EUR HANCESTRO_0005 UK Biobank 450k GCST90078225 320758 2905 20.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Arm fat mass right (23120) EFO_0005409 4.41e-15 4.41 -15 0.637 0.51 EUR HANCESTRO_0005 UK Biobank 450k GCST90078923 423576 423576 197.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR Treatment or Medication Code - rosuvastatin EFO_0007010 1.56e-16 1.56 -16 24.354 51.991 EUR HANCESTRO_0005 UK Biobank 450k GCST90078225 320758 2905 16.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PAPPA2 IGF 1 (30770) EFO_0004627 2.25e-31 2.25 -31 0.277 0.237 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1937.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON STAB1 IGF 1 (30770) EFO_0004627 4.84e-12 4.84 -12 -0.101 -0.141 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1928.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GHRH IGF 1 (30770) EFO_0004627 6.51e-14 6.51 -14 -0.484 -0.656 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 104.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GHRH IGF 1 (30770) EFO_0004627 6.51e-14 6.51 -14 -0.484 -0.656 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 104.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SMAD6 6mm strong meridian right (5133) EFO_0004731 9.67e-20 9.67 -20 1.011 0.832 EUR HANCESTRO_0005 UK Biobank 450k GCST90079299 90887 90887 95.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON THBS4 6mm strong meridian right (5133) EFO_0004731 5.44e-17 5.44 -17 -0.21 -0.274 EUR HANCESTRO_0005 UK Biobank 450k GCST90079299 90887 90887 755.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR Treatment or Medication Code - ezetrol 10mg tablet EFO_0007010 8.66e-17 8.66 -17 7.941 12.937 EUR HANCESTRO_0005 UK Biobank 450k GCST90078227 320758 843 29.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGFBP3 IGF 1 (30770) EFO_0004627 2.43e-33 2.43 -33 -0.362 -0.432 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 624.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SMAD6 6mm strong meridian right (5133) EFO_0004731 4.6e-21 4.6 -21 0.553 0.458 EUR HANCESTRO_0005 UK Biobank 450k GCST90079299 90887 90887 338.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON KDM5B IGF 1 (30770) EFO_0004627 1.92e-12 1.92 -12 -0.145 -0.202 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 982.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LDLR Treatment or Medication Code - ezetrol 10mg tablet EFO_0007010 8.66e-17 8.66 -17 7.941 12.937 EUR HANCESTRO_0005 UK Biobank 450k GCST90078227 320758 843 29.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MIP Non cancer illness code self reported - cataract/ICD10 H26 MONDO_0005129 2.84e-13 2.84 -13 11.066 21.096 EUR HANCESTRO_0005 UK Biobank 450k GCST90077757 329052 7792 19.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MIP Non cancer illness code self reported - cataract/ICD10 H26 MONDO_0005129 1.92e-13 1.92 -13 16.147 33.887 EUR HANCESTRO_0005 UK Biobank 450k GCST90077757 329052 7792 16.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TSHR Non cancer illness code self reported - hypothyroidism myxoedema EFO_0004705 1.04e-18 1.04 -18 3.398 4.457 EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 90.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON COL4A4 Microalbumin in urine (30500) EFO_0010967 7.46e-57 7.46 -57 0.815 0.726 EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 463.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CUBN Microalbumin in urine (30500) EFO_0010967 3.0500000000000003e-27 3.05 -27 0.243 0.205 EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 2716.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON WNT1 Heel broadband ultrasound attenuation left (4101) EFO_0004514 1.16e-11 1.16 -11 -0.327 -0.46 EUR HANCESTRO_0005 UK Biobank 450k GCST90079149 166276 166276 167.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON COL4A4 Microalbumin in urine (30500) EFO_0010967 7.46e-57 7.46 -57 0.815 0.726 EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 463.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APC ICD10 Z83.7: Family history of diseases of the digestive system EFO_0000493 8.16e-20 8.16 -20 54.591 129.067 EUR HANCESTRO_0005 UK Biobank 450k GCST90081342 387433 947 14.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SMAD6 Ankle spacing width (3143) EFO_0004324 1.0899999999999999e-23 1.09 -23 0.326 0.273 EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 862.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Whole body fat free mass (23101) EFO_0004995 1.9199999999999999e-38 1.92 -38 0.154 0.134 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 3013.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Whole body fat free mass (23101) EFO_0004995 4.2900000000000005e-27 4.29 -27 0.18 0.152 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 1595.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Whole body fat free mass (23101) EFO_0004995 1.36e-14 1.36 -14 -0.384 -0.515 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 71.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Whole body fat free mass (23101) EFO_0004995 1e-15 10.0 -16 0.45 0.361 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 157.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Whole body fat free mass (23101) EFO_0004995 2.49e-25 2.49 -25 0.228 0.192 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 935.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Whole body fat free mass (23101) EFO_0004995 6.52e-17 6.52 -17 -0.048 -0.062 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 5845.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PAPPA2 Whole body fat free mass (23101) EFO_0004995 8.5e-12 8.5 -12 -0.163 -0.229 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 285.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SCUBE3 Whole body fat free mass (23101) EFO_0004995 6.27e-16 6.27 -16 -0.099 -0.131 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 1216.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Whole body fat free mass (23101) EFO_0004995 2.92e-16 2.92 -16 0.596 0.481 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 92.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON EGFL8 Non cancer illness code self reported - psoriasis/ICD10 L40 EFO_0000676 2.01e-16 2.01 -16 2.43 3.002 EUR HANCESTRO_0005 UK Biobank 450k GCST90077856 329052 4381 116.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 C78: Secondary malignant neoplasm of respiratory and digestive organs EFO_0009812 2.86e-21 2.86 -21 2.755 3.399 EUR HANCESTRO_0005 UK Biobank 450k GCST90079625 387835 6526 124.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 1.26e-16 1.26 -16 14.654 27.673 EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 20.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACAN Leg fat free mass right (23113) EFO_0004995 3.18e-16 3.18 -16 -0.457 -0.601 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 63.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PKD1 ICD10 Z99.2: Dependence on renal dialysis EFO_0010690 2.88e-37 2.88 -37 31.226 52.985 EUR HANCESTRO_0005 UK Biobank 450k GCST90081442 385553 1868 34.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IRS1 Leg fat free mass right (23113) EFO_0004995 4.75e-18 4.75 -18 -0.332 -0.429 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 140.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 9.81e-18 9.81 -18 8.09 13.046 EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 31.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CHEK2 Ever used hormone replacement therapy HRT - Yes (2814) EFO_0003961 1.16e-11 1.16 -11 0.771 0.831 EUR HANCESTRO_0005 UK Biobank 450k GCST90078962 233003 92655 1377.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CAD Mean reticulocyte volume (30260) EFO_0010701 1.24e-50 1.24 -50 0.48 0.424 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1046.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SPTB Mean reticulocyte volume (30260) EFO_0010701 6.01e-19 6.01 -19 -0.557 -0.715 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 129.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CAD Mean reticulocyte volume (30260) EFO_0010701 8.36e-62 8.36 -62 1.178 1.054 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 208.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CAD Mean reticulocyte volume (30260) EFO_0010701 8.36e-62 8.36 -62 1.178 1.054 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 208.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TERT Mean reticulocyte volume (30260) EFO_0010701 1.81e-14 1.81 -14 0.568 0.453 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 239.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 ICD10 C77: Secondary and unspecified malignant neoplasm of lymph nodes MONDO_0024339 1.95e-13 1.95 -13 4.366 6.468 EUR HANCESTRO_0005 UK Biobank 450k GCST90079620 387882 7019 40.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ANK1 Mean reticulocyte volume (30260) EFO_0010701 2.82e-17 2.82 -17 -0.67 -0.872 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 79.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON JAK2 Mean reticulocyte volume (30260) EFO_0010701 2.76e-20 2.76 -20 0.221 0.182 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 2137.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPTA1 Mean reticulocyte volume (30260) EFO_0010701 1.09e-43 1.09 -43 -0.575 -0.669 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 365.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPTB Mean reticulocyte volume (30260) EFO_0010701 1.05e-12 1.05 -12 -0.137 -0.189 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1186.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC4A1 Mean reticulocyte volume (30260) EFO_0010701 1.11e-15 1.11 -15 -1.106 -1.464 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 25.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON CLSPN Mean reticulocyte volume (30260) EFO_0010701 8.45e-12 8.45 -12 0.47 0.365 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 295.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANK1 Mean reticulocyte volume (30260) EFO_0010701 4.02e-16 4.02 -16 -0.074 -0.098 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 5887.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ATR Mean reticulocyte volume (30260) EFO_0010701 1.19e-18 1.19 -18 -0.103 -0.133 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 3706.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RPS6KB2 Mean reticulocyte volume (30260) EFO_0010701 6.64e-12 6.64 -12 -0.059 -0.083 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 5728.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON E2F4 Mean reticulocyte volume (30260) EFO_0010701 3.57e-17 3.57 -17 1.938 1.573 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 24.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON FES Non cancer illness code self reported - hypertension EFO_0000537 7.53e-13 7.53 -13 1.547 1.743 EUR HANCESTRO_0005 UK Biobank 450k GCST90077645 331754 115454 543.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Comparative body size at age 10 - Thinner (1687) EFO_0009819 2.45e-17 2.45 -17 0.522 0.607 EUR HANCESTRO_0005 UK Biobank 450k GCST90077588 423612 141504 201.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Comparative body size at age 10 - Thinner (1687) EFO_0009819 2.3e-20 2.3 -20 0.535 0.611 EUR HANCESTRO_0005 UK Biobank 450k GCST90077588 423612 141504 260.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ABCA1 HDL cholesterol (30760) EFO_0004612 5.13e-146 5.13 -146 -1.064 -1.152 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 336.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANGPTL3 HDL cholesterol (30760) EFO_0004612 9.96e-22 9.96 -22 -0.221 -0.278 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 801.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PPARG HDL cholesterol (30760) EFO_0004612 5.48e-12 5.48 -12 -0.517 -0.722 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 61.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON CD36 HDL cholesterol (30760) EFO_0004612 7.15e-18 7.15 -18 0.227 0.185 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1472.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SH2B3 HDL cholesterol (30760) EFO_0004612 1.51e-34 1.51 -34 -0.147 -0.174 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 3340.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL8 HDL cholesterol (30760) EFO_0004612 2.4600000000000003e-21 2.46 -21 0.408 0.338 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 528.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOC3 HDL cholesterol (30760) EFO_0004612 2.2300000000000002e-307 2.23 -307 0.835 0.799 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1981.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LPL HDL cholesterol (30760) EFO_0004612 5.45e-38 5.45 -38 -0.351 -0.414 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 658.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CREB3L3 HDL cholesterol (30760) EFO_0004612 1.02e-12 1.02 -12 -0.18 -0.249 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 554.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOC3 HDL cholesterol (30760) EFO_0004612 5.97e-13 5.97 -13 0.965 0.758 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 61.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LIPG HDL cholesterol (30760) EFO_0004612 1.38e-18 1.38 -18 0.779 0.637 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 128.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LIPG HDL cholesterol (30760) EFO_0004612 6.9e-27 6.9 -27 0.316 0.267 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1087.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR Treatment or Medication Code - atorvastatin EFO_0007010 6.05e-46 6.05 -46 3.764 4.518 EUR HANCESTRO_0005 UK Biobank 450k GCST90078178 320758 16654 194.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR Treatment or Medication Code - atorvastatin EFO_0007010 1.02e-16 1.02 -16 4.793 6.939 EUR HANCESTRO_0005 UK Biobank 450k GCST90078178 320758 16654 51.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SRSF2 ICD10 D64.9: Anemia, unspecified EFO_0004272 9.7e-12 9.7 -12 4.552 7.041 EUR HANCESTRO_0005 UK Biobank 450k GCST90079711 387075 14923 35.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Leg predicted mass right (23114) EFO_0004302 1.08e-28 1.08 -28 0.219 0.186 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Leg predicted mass right (23114) EFO_0004302 2.7499999999999995e-23 2.75 -23 0.294 0.245 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 554.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN ICD10 I42.0: Dilated cardiomyopathy EFO_0000407 2.6400000000000003e-56 2.64 -56 14.177 19.695 EUR HANCESTRO_0005 UK Biobank 450k GCST90079998 387930 858 74.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Leg predicted mass right (23114) EFO_0004302 2.9e-14 2.9 -14 0.347 0.276 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 257.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PAPPA2 Leg predicted mass right (23114) EFO_0004302 2.25e-12 2.25 -12 -0.066 -0.091 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 2008.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R Leg predicted mass right (23114) EFO_0004302 4.4900000000000005e-21 4.49 -21 -0.182 -0.229 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 568.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACAN Leg predicted mass right (23114) EFO_0004302 6.23e-15 6.23 -15 -0.511 -0.682 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 44.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON TTN Leg predicted mass right (23114) EFO_0004302 2.02e-12 2.02 -12 -0.039 -0.054 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 5845.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACAN Leg predicted mass right (23114) EFO_0004302 1.4e-16 1.4 -16 -0.461 -0.604 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 63.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MYO6 Hearing aid user - Yes (3393) EFO_0009720 5.23e-20 5.23 -20 2.129 2.502 EUR HANCESTRO_0005 UK Biobank 450k GCST90079053 281979 15741 209.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH6 Type of Cancer: Malignant neoplasm of endometrium (40006) MONDO_0011962 3.21e-18 3.21 -18 19.567 38.227 EUR HANCESTRO_0005 UK Biobank 450k GCST90079109 41005 1536 23.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ANGPTL8 Triglycerides (30870) EFO_0004530 1.8500000000000002e-29 1.85 -29 -0.344 -0.417 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 587.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APOA5 Triglycerides (30870) EFO_0004530 2.53e-36 2.53 -36 0.465 0.402 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 805.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CREB3L3 Triglycerides (30870) EFO_0004530 7.19e-17 7.19 -17 0.365 0.296 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 645.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 Z85.4: Personal history of malignant neoplasm of genital organs EFO_0000616 2.91e-12 2.91 -12 3.274 4.567 EUR HANCESTRO_0005 UK Biobank 450k GCST90081350 387908 5672 52.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOA5 Triglycerides (30870) EFO_0004530 2.53e-36 2.53 -36 0.465 0.402 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 805.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z85.4: Personal history of malignant neoplasm of genital organs EFO_0000616 4.51e-14 4.51 -14 3.302 4.504 EUR HANCESTRO_0005 UK Biobank 450k GCST90081350 387908 5672 60.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH6 ICD10 C54.1: Malignant neoplasm of endometrium MONDO_0011962 1.13e-18 1.13 -18 9.677 16.024 EUR HANCESTRO_0005 UK Biobank 450k GCST90079607 228786 1469 29.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ANGPTL4 Triglycerides (30870) EFO_0004530 1.78e-19 1.78 -19 -0.29 -0.371 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 480.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOC3 Triglycerides (30870) EFO_0004530 1.67e-99 1.67 -99 -1.062 -1.17 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 270.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PDE3B Triglycerides (30870) EFO_0004530 2.15e-60 2.15 -60 -0.293 -0.333 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 2002.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LPL Triglycerides (30870) EFO_0004530 8.44e-19 8.44 -19 0.845 0.692 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 134.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CREB3L3 Triglycerides (30870) EFO_0004530 4.9e-12 4.9 -12 0.416 0.324 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 369.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB Triglycerides (30870) EFO_0004530 3.66e-40 3.66 -40 -0.976 -1.145 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 109.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON GCKR Triglycerides (30870) EFO_0004530 4.2e-13 4.2 -13 0.112 0.088 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 5531.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APC Non cancer illness code self reported - rectal or colon adenoma polyps/ICD10 D12 EFO_1000633 1.14e-12 1.14 -12 43.91 124.513 EUR HANCESTRO_0005 UK Biobank 450k GCST90077868 329052 1492 9.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON MEPE Heel bone mineral density BMD T score automated left (4106) EFO_0009270 5.77e-22 5.77 -22 -0.248 -0.312 EUR HANCESTRO_0005 UK Biobank 450k GCST90079153 166283 166283 747.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Non cancer illness code self reported - high cholesterol HP_0003124 5.81e-15 5.81 -15 3.035 4.01 EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 99.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB Non cancer illness code self reported - high cholesterol HP_0003124 1.99e-11 1.99 -11 0.633 0.724 EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 237.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ASXL1 Smoking status - Never (20116) EFO_0006527 2.12e-30 2.12 -30 0.491 0.554 EUR HANCESTRO_0005 UK Biobank 450k GCST90078300 429255 232790 375.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SH2B3 Cystatin C (30720) EFO_0004617 2.26e-57 2.26 -57 0.245 0.219 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 3616.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CGNL1 Cystatin C (30720) EFO_0004617 6.51e-18 6.51 -18 0.543 0.443 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 256.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CST3 Cystatin C (30720) EFO_0004617 2.2300000000000002e-307 2.23 -307 -2.747 -2.842 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 304.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CLDN10 Cystatin C (30720) EFO_0004617 1.08e-32 1.08 -32 0.471 0.404 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 581.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PKD2 Cystatin C (30720) EFO_0004617 2.67e-17 2.67 -17 0.836 0.678 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 105.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MLH1 ICD10 C18: Malignant neoplasm of colon EFO_1001950 2.31e-13 2.31 -13 13.068 25.984 EUR HANCESTRO_0005 UK Biobank 450k GCST90079581 387657 3899 17.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Cystatin C (30720) EFO_0004617 5.21e-17 5.21 -17 0.202 0.164 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 1778.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SRSF2 ICD10 A41.9: Sepsis, unspecified organism HP_0100806 1.99e-19 1.99 -19 11.6 19.766 EUR HANCESTRO_0005 UK Biobank 450k GCST90079545 387517 4673 28.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Cystatin C (30720) EFO_0004617 5.21e-17 5.21 -17 0.202 0.164 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 1778.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 Illnesses of siblings - Breast cancer (20111) EFO_0009640 9.7e-23 9.7 -23 3.939 5.179 EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 84.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 Illnesses of siblings - Breast cancer (20111) EFO_0009640 1.44e-17 1.44 -17 2.646 3.309 EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 112.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TSHR Treatment or Medication Code - levothyroxine sodium EFO_0007010 3.45e-14 3.45 -14 3.037 4.048 EUR HANCESTRO_0005 UK Biobank 450k GCST90078224 320758 19017 75.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 ICD10 C92: Myeloid leukemia EFO_0002427 3.1500000000000004e-21 3.15 -21 11.048 18.175 EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 30.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ASXL1 ICD10 C92: Myeloid leukemia EFO_0002427 5.68e-20 5.68 -20 14.599 25.924 EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 24.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 ICD10 C92: Myeloid leukemia EFO_0002427 4.540000000000001e-21 4.54 -21 9.853 15.86 EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 32.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 ICD10 C92: Myeloid leukemia EFO_0002427 5.06e-36 5.06 -36 17.93 28.161 EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 41.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Arm fat percentage left (23123) EFO_0007800 1.21e-21 1.21 -21 0.235 0.195 EUR HANCESTRO_0005 UK Biobank 450k GCST90078926 423545 423545 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MYOC Intra ocular pressure corneal compensated right (5254) EFO_0004695 7.66e-15 7.66 -15 0.475 0.379 EUR HANCESTRO_0005 UK Biobank 450k GCST90079333 105888 105888 395.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 5.57e-23 5.57 -23 4.39 5.888 EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 74.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 7.12e-16 7.12 -16 2.344 2.883 EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 136.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 1.88e-15 1.88 -15 2.462 3.075 EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 120.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Arm fat mass left (23124) EFO_0005409 2.69e-15 2.69 -15 0.642 0.514 EUR HANCESTRO_0005 UK Biobank 450k GCST90078927 423512 423512 197.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 2.15e-17 2.15 -17 2.732 3.447 EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 103.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CHEK2 Illnesses of mother - Breast cancer (20110) EFO_0009640 4.9e-19 4.9 -19 1.459 1.585 EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 747.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PIEZO1 Red blood cell erythrocyte count (30010) EFO_0004305 6.57e-12 6.57 -12 -0.13 -0.181 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 879.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SF3B1 Red blood cell erythrocyte count (30010) EFO_0004305 1.05e-31 1.05 -31 -0.386 -0.463 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 394.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.8000000000000002e-158 1.8 -158 2.277 2.122 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 98.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 Illnesses of mother - Breast cancer (20110) EFO_0009640 6.96e-25 6.96 -25 3.072 3.803 EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 136.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.63e-13 1.63 -13 2.499 1.975 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 14.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GMPR Red blood cell erythrocyte count (30010) EFO_0004305 4.7e-13 4.7 -13 -0.104 -0.142 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 1619.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 Illnesses of mother - Breast cancer (20110) EFO_0009640 6.96e-25 6.96 -25 3.072 3.803 EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 136.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 5.24e-29 5.24 -29 2.357 2.006 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 19.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 Illnesses of mother - Breast cancer (20110) EFO_0009640 4.52e-28 4.52 -28 3.416 4.253 EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 133.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SH2B3 Red blood cell erythrocyte count (30010) EFO_0004305 1.38e-26 1.38 -26 0.163 0.138 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 3695.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON OR51V1 Red blood cell erythrocyte count (30010) EFO_0004305 4.74e-14 4.74 -14 0.989 0.785 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 83.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TFRC Red blood cell erythrocyte count (30010) EFO_0004305 8.4e-14 8.4 -14 1.394 1.104 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 28.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 5.6e-106 5.6 -106 2.217 2.035 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKHD1 Gamma glutamyltransferase (30730) EFO_0004532 1.1700000000000001e-21 1.17 -21 0.136 0.113 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 5327.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 ICD10 N18.9: Chronic kidney disease, unspecified EFO_0003884 9.25e-36 9.25 -36 19.717 31.488 EUR HANCESTRO_0005 UK Biobank 450k GCST90080583 387930 3916 41.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SYNJ2 Gamma glutamyltransferase (30730) EFO_0004532 8.18e-44 8.18 -44 -0.08 -0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 17107.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ABCB11 Gamma glutamyltransferase (30730) EFO_0004532 7.21e-13 7.21 -13 -0.104 -0.142 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1885.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ABCB11 Gamma glutamyltransferase (30730) EFO_0004532 1.57e-14 1.57 -14 -0.106 -0.142 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 2169.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RORC Gamma glutamyltransferase (30730) EFO_0004532 3.82e-40 3.82 -40 0.244 0.213 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 2890.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CGN Gamma glutamyltransferase (30730) EFO_0004532 1.06e-14 1.06 -14 0.214 0.171 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1538.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SPTA1 High light scatter reticulocyte count (30300) EFO_0007986 2.43e-25 2.43 -25 0.665 0.56 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 299.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON IFRD2 High light scatter reticulocyte count (30300) EFO_0007986 1.43e-84 1.43 -84 0.233 0.211 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 7383.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 High light scatter reticulocyte count (30300) EFO_0007986 4.02e-20 4.02 -20 0.246 0.203 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1767.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB High light scatter reticulocyte count (30300) EFO_0007986 2.49e-15 2.49 -15 0.954 0.765 SAS HANCESTRO_0006 UK Biobank 450k 9690 9690 99.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC4A1 High light scatter reticulocyte count (30300) EFO_0007986 4.21e-20 4.21 -20 1.148 0.946 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 81.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 High light scatter reticulocyte count (30300) EFO_0007986 2.37e-20 2.37 -20 0.248 0.205 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1754.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON JAK2 High light scatter reticulocyte count (30300) EFO_0007986 1.51e-15 1.51 -15 0.198 0.159 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 2136.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PDE3B High light scatter reticulocyte count (30300) EFO_0007986 1.47e-15 1.47 -15 -0.125 -0.165 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 2011.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IQGAP2 High light scatter reticulocyte count (30300) EFO_0007986 7.3e-15 7.3 -15 0.139 0.111 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 4242.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON EPB41 High light scatter reticulocyte count (30300) EFO_0007986 1.39e-13 1.39 -13 0.653 0.516 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 178.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON EPB41 High light scatter reticulocyte count (30300) EFO_0007986 7.76e-12 7.76 -12 0.761 0.591 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 116.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON NF1 Non cancer illness code self reported - other neurological problem EFO_0000618 1.06e-26 1.06 -26 45.492 91.566 EUR HANCESTRO_0005 UK Biobank 450k GCST90077842 331754 1794 21.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON BRCA2 ICD10 Z40: Encounter for prophylactic surgery EFO_0009580 5.93e-14 5.93 -14 1.861 2.188 EUR HANCESTRO_0005 UK Biobank 450k GCST90081254 347298 40136 212.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON NF1 Non cancer illness code self reported - other neurological problem EFO_0000618 1.16e-18 1.16 -18 4.457 6.212 EUR HANCESTRO_0005 UK Biobank 450k GCST90077842 331754 1794 55.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HOXB13 Type of Cancer: Malignant neoplasm of prostate (40006) EFO_0001663 6.82e-15 6.82 -15 2.854 3.717 EUR HANCESTRO_0005 UK Biobank 450k GCST90079112 33225 8498 128.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MEN1 ICD10 E21: Hyperparathyroidism and other disorders of parathyroid gland EFO_0008506 8.45e-18 8.45 -18 1086.11 5349.37 EUR HANCESTRO_0005 UK Biobank 450k GCST90079753 387625 1168 7.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON BRCA1 DD Cancer - Yes (2453) EFO_0000311 9.45e-18 9.45 -18 2.014 2.363 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 215.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MEN1 ICD10 E21: Hyperparathyroidism and other disorders of parathyroid gland EFO_0008506 8.13e-23 8.13 -23 737.503 2750.38 EUR HANCESTRO_0005 UK Biobank 450k GCST90079753 387625 1168 10.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MSH6 DD Cancer - Yes (2453) EFO_0000311 3.68e-12 3.68 -12 2.454 3.161 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 91.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 DD Cancer - Yes (2453) EFO_0000311 2.69e-15 2.69 -15 1.413 1.539 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 669.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 DD Cancer - Yes (2453) EFO_0000311 4.87e-25 4.87 -25 3.091 3.828 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 138.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TP53 DD Cancer - Yes (2453) EFO_0000311 5.47e-12 5.47 -12 2.383 3.05 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 96.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MEN1 ICD10 E21: Hyperparathyroidism and other disorders of parathyroid gland EFO_0008506 8.13e-23 8.13 -23 737.503 2750.38 EUR HANCESTRO_0005 UK Biobank 450k GCST90079753 387625 1168 10.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MEN1 ICD10 E21: Hyperparathyroidism and other disorders of parathyroid gland EFO_0008506 4.9e-12 4.9 -12 51.663 158.209 EUR HANCESTRO_0005 UK Biobank 450k GCST90079753 387625 1168 8.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON CXCR2 White blood cell leukocyte count (30000) EFO_0004308 1.99e-17 1.99 -17 -0.336 -0.437 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 335.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CHEK2 White blood cell leukocyte count (30000) EFO_0004308 6.72e-12 6.72 -12 0.194 0.151 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 1835.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CXCR4 White blood cell leukocyte count (30000) EFO_0004308 1.26e-19 1.26 -19 0.708 0.582 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 215.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON CHEK2 White blood cell leukocyte count (30000) EFO_0004308 7.1800000000000006e-37 7.18 -37 0.173 0.15 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 6989.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NOTCH1 White blood cell leukocyte count (30000) EFO_0004308 1.2500000000000001e-22 1.25 -22 1.61 1.341 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 47.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IL17RA White blood cell leukocyte count (30000) EFO_0004308 2.5e-29 2.5 -29 -0.112 -0.136 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 6119.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZNF770 SHBG (30830) EFO_0004696 1.8e-18 1.8 -18 0.976 0.798 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 82.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R Seated height (51) EFO_0011011 1.71e-12 1.71 -12 -0.115 -0.159 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 1007.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PDE3B Seated height (51) EFO_0011011 4.09e-15 4.09 -15 0.154 0.123 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 2097.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON STC2 Seated height (51) EFO_0011011 2.26e-21 2.26 -21 0.163 0.135 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 2532.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SHBG SHBG (30830) EFO_0004696 4.41e-75 4.41 -75 -1.206 -1.351 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 133.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CRISPLD1 Seated height (51) EFO_0011011 2.21e-12 2.21 -12 -0.11 -0.152 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 1085.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SHBG SHBG (30830) EFO_0004696 2.2300000000000002e-307 2.23 -307 -1.206 -1.26 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 961.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGF1R Seated height (51) EFO_0011011 3.3e-12 3.3 -12 -0.262 -0.365 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 187.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON COL4A4 ICD10 R31: Hematuria HP_0000790 5.83e-59 5.83 -59 6.075 7.558 EUR HANCESTRO_0005 UK Biobank 450k GCST90080842 383009 19710 153.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON COL4A4 ICD10 R31: Hematuria HP_0000790 4.19e-18 4.19 -18 5.809 8.646 EUR HANCESTRO_0005 UK Biobank 450k GCST90080842 383009 19710 45.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON FGD1 Impedance of whole body (23106) HP_0000924 6.54e-12 6.54 -12 -0.204 -0.286 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 158.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON CRP C reactive protein (30710) EFO_0004458 9.23e-13 9.23 -13 -0.475 -0.655 SAS HANCESTRO_0006 UK Biobank 450k 9815 9815 101.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CRP C reactive protein (30710) EFO_0004458 4.33e-51 4.33 -51 -0.553 -0.636 EUR HANCESTRO_0005 UK Biobank 450k GCST90079026 411229 411229 499.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLTM Impedance of whole body (23106) HP_0000924 5.13e-12 5.13 -12 -0.35 -0.488 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 99.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Trunk predicted mass (23130) EFO_0004324 3.39e-21 3.39 -21 0.185 0.153 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 1200.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CRP C reactive protein (30710) EFO_0004458 1.75e-23 1.75 -23 -0.665 -0.827 EUR HANCESTRO_0005 UK Biobank 450k GCST90079026 411229 411229 130.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Trunk predicted mass (23130) EFO_0004324 5.92e-18 5.92 -18 -0.05 -0.064 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 5839.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Trunk predicted mass (23130) EFO_0004324 6.229999999999999e-42 6.23 -42 0.16 0.14 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 3010.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Trunk predicted mass (23130) EFO_0004324 9.66e-25 9.66 -25 -0.092 -0.113 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 2640.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ZFAT Trunk predicted mass (23130) EFO_0004324 3.14e-18 3.14 -18 0.626 0.511 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 92.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Trunk predicted mass (23130) EFO_0004324 5.92e-18 5.92 -18 -0.05 -0.064 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 5839.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON STC2 Trunk predicted mass (23130) EFO_0004324 1.33e-25 1.33 -25 0.141 0.118 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 2488.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Non cancer illness code self reported - angina/ICD10 I20 EFO_0003913 1.28e-15 1.28 -15 2.327 2.862 EUR HANCESTRO_0005 UK Biobank 450k GCST90077656 329052 13585 129.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Trunk predicted mass (23130) EFO_0004324 9.66e-25 9.66 -25 -0.092 -0.113 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 2640.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SPSB3 Trunk predicted mass (23130) EFO_0004324 8.36e-15 8.36 -15 -0.041 -0.054 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 6510.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGFALS Impedance of whole body (23106) HP_0000924 3.05e-12 3.05 -12 0.142 0.111 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 1961.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON OCA2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 1.4e-48 1.4 -48 2.449 2.761 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 493.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON KDM5B Duration to first press of snap button in each round (404) EFO_0008354 4.35e-14 4.35 -14 0.546 0.434 EUR HANCESTRO_0005 UK Biobank 450k GCST90079143 428085 428085 253.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CASR Calcium (30680) EFO_0004838 2.02e-62 2.02 -62 0.959 0.858 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 347.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC45A2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 5.82e-51 5.82 -51 2.456 2.761 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 526.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON OCA2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 2.95e-23 2.95 -23 3.777 4.91 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 122.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC45A2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 1.8e-27 1.8 -27 2.488 2.932 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 271.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ALB Calcium (30680) EFO_0004838 2.54e-20 2.54 -20 -0.385 -0.488 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 325.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CASR Calcium (30680) EFO_0004838 1.45e-32 1.45 -32 2.048 1.758 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 42.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CASR Calcium (30680) EFO_0004838 1.65e-48 1.65 -48 0.608 0.537 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 685.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CASR Calcium (30680) EFO_0004838 1.45e-32 1.45 -32 2.048 1.758 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 42.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TYRP1 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 1.21e-12 1.21 -12 1.226 1.296 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 1797.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CASR Calcium (30680) EFO_0004838 2.16e-13 2.16 -13 1.901 1.5 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 22.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON APC ICD10 D12: Benign neoplasm of colon, rectum, anus and anal canal EFO_0002422 5.3700000000000004e-27 5.37 -27 15.03 24.623 EUR HANCESTRO_0005 UK Biobank 450k GCST90079662 387680 16948 38.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON FLG ICD10 L30: Other and unspecified dermatitis EFO_0000701 3.76e-13 3.76 -13 1.426 1.57 EUR HANCESTRO_0005 UK Biobank 450k GCST90080346 367319 11384 503.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ABCB11 Alkaline phosphatase (30610) EFO_0004533 9.47e-43 9.47 -43 0.297 0.26 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 2172.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 D12: Benign neoplasm of colon, rectum, anus and anal canal EFO_0002422 5.3700000000000004e-27 5.37 -27 15.03 24.623 EUR HANCESTRO_0005 UK Biobank 450k GCST90079662 387680 16948 38.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PALB2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 2.6600000000000002e-21 2.66 -21 4.095 5.481 EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 77.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ABCB11 Alkaline phosphatase (30610) EFO_0004533 1.45e-29 1.45 -29 0.427 0.364 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 750.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ALPL Alkaline phosphatase (30610) EFO_0004533 3.32e-106 3.32 -106 -0.663 -0.728 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 703.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GPLD1 Alkaline phosphatase (30610) EFO_0004533 2.49e-16 2.49 -16 -0.591 -0.777 SAS HANCESTRO_0006 UK Biobank 450k 9849 9849 95.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 4.5300000000000004e-26 4.53 -26 5.542 7.615 EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 71.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON B4GALNT3 Alkaline phosphatase (30610) EFO_0004533 3.26e-12 3.26 -12 0.223 0.174 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 1241.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ABCB11 Alkaline phosphatase (30610) EFO_0004533 2.18e-18 2.18 -18 0.699 0.571 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 182.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON APOB Alkaline phosphatase (30610) EFO_0004533 3.57e-15 3.57 -15 -0.197 -0.262 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 700.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GPLD1 Alkaline phosphatase (30610) EFO_0004533 8.420000000000001e-169 8.42 -169 -0.635 -0.684 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 1291.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GPLD1 Alkaline phosphatase (30610) EFO_0004533 3.45e-12 3.45 -12 -0.576 -0.802 SAS HANCESTRO_0006 UK Biobank 450k 9849 9849 64.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON APC ICD10 D12: Benign neoplasm of colon, rectum, anus and anal canal EFO_0002422 5.3700000000000004e-27 5.37 -27 15.03 24.623 EUR HANCESTRO_0005 UK Biobank 450k GCST90079662 387680 16948 38.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GPLD1 Alkaline phosphatase (30610) EFO_0004533 1.93e-18 1.93 -18 -0.607 -0.782 AFR HANCESTRO_0010 UK Biobank 450k 8544 8544 124.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FLG ICD10 L30: Other and unspecified dermatitis EFO_0000701 3.76e-13 3.76 -13 1.426 1.57 EUR HANCESTRO_0005 UK Biobank 450k GCST90080346 367319 11384 503.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Hip circumference (49) EFO_0005093 1.66e-20 1.66 -20 0.302 0.249 EUR HANCESTRO_0005 UK Biobank 450k GCST90079253 430214 430214 1224.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PDE3B Hip circumference (49) EFO_0005093 5.7600000000000004e-21 5.76 -21 0.234 0.193 EUR HANCESTRO_0005 UK Biobank 450k GCST90079253 430214 430214 2096.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Hip circumference (49) EFO_0005093 1.21e-16 1.21 -16 0.117 0.095 EUR HANCESTRO_0005 UK Biobank 450k GCST90079253 430214 430214 6819.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ENG ICD10 I78: Diseases of capillaries EFO_0004264 9.640000000000001e-27 9.64 -27 212.772 567.713 EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 14.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Hip circumference (49) EFO_0005093 7.93e-15 7.93 -15 0.643 0.513 EUR HANCESTRO_0005 UK Biobank 450k GCST90079253 430214 430214 202.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PKLR Reticulocyte percentage (30240) EFO_0010700 5.84e-22 5.84 -22 0.363 0.301 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 916.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SRSF2 Reticulocyte percentage (30240) EFO_0010700 3.18e-38 3.18 -38 1.061 0.921 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 175.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANK1 Reticulocyte percentage (30240) EFO_0010700 1.42e-12 1.42 -12 0.768 0.602 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 123.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON RHAG Reticulocyte percentage (30240) EFO_0010700 6.51e-28 6.51 -28 0.333 0.283 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1331.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANK1 Reticulocyte percentage (30240) EFO_0010700 1.42e-12 1.42 -12 0.768 0.602 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 123.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CYB561D2 Reticulocyte percentage (30240) EFO_0010700 4.82e-13 4.82 -13 0.145 0.114 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 3539.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 5.37e-29 5.37 -29 10.481 15.826 EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 44.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKLR Reticulocyte percentage (30240) EFO_0010700 6.12e-53 6.12 -53 0.219 0.195 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 5624.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANK1 Reticulocyte percentage (30240) EFO_0010700 3.12e-12 3.12 -12 0.55 0.429 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 234.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON THBS4 3mm strong meridian left (5135) EFO_0004731 1.24e-19 1.24 -19 -0.215 -0.274 EUR HANCESTRO_0005 UK Biobank 450k GCST90079301 103531 103531 889.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON AMPD3 Reticulocyte percentage (30240) EFO_0010700 3.01e-14 3.01 -14 -0.049 -0.066 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 11795.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 5.88e-36 5.88 -36 18.39 29.01 EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 41.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ANK1 Reticulocyte percentage (30240) EFO_0010700 1.61e-13 1.61 -13 0.291 0.23 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 915.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON RHAG Reticulocyte percentage (30240) EFO_0010700 4.08e-15 4.08 -15 0.548 0.438 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 285.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IFRD2 Reticulocyte percentage (30240) EFO_0010700 2.22e-76 2.22 -76 0.225 0.204 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 7385.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CALR Reticulocyte percentage (30240) EFO_0010700 7.25e-12 7.25 -12 0.999 0.777 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 69.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SPTA1 Reticulocyte percentage (30240) EFO_0010700 2.9700000000000002e-58 2.97 -58 0.894 0.797 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 365.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 3mm strong meridian left (5135) EFO_0004731 8.1800000000000005e-22 8.18 -22 0.675 0.561 EUR HANCESTRO_0005 UK Biobank 450k GCST90079301 103531 103531 236.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MLH1 Type of Cancer: Malignant neoplasm of colon (40006) EFO_1001950 1.62e-15 1.62 -15 25.997 57.94 EUR HANCESTRO_0005 UK Biobank 450k GCST90079082 74230 3309 17.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC4R Impedance of leg right (23107) HP_0000924 5.87e-24 5.87 -24 -0.223 -0.276 EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Impedance of leg right (23107) HP_0000924 6.69e-12 6.69 -12 0.098 0.076 EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 5849.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TMPRSS6 Haematocrit percentage (30030) EFO_0004348 8.26e-14 8.26 -14 -0.113 -0.153 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1412.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SH2B3 Haematocrit percentage (30030) EFO_0004348 8.46e-26 8.46 -26 0.158 0.134 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 3695.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Haematocrit percentage (30030) EFO_0004348 7.12e-15 7.12 -15 -0.106 -0.142 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1794.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACO1 Haematocrit percentage (30030) EFO_0004348 2.3400000000000003e-21 2.34 -21 0.196 0.163 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 2032.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON APC ICD10 Z93: Artificial opening status EFO_0002571 4.01e-22 4.01 -22 27.213 53.156 EUR HANCESTRO_0005 UK Biobank 450k GCST90081416 387863 3783 21.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON FLG AdultAsthmaCases vs AdultAsthmaControls (RGC) MONDO_0004979 4.93e-12 4.93 -12 1.437 1.593 EUR HANCESTRO_0005 UK Biobank 450k GCST90081448 43138 16937 786.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APOC3 LDL direct (30780) EFO_0004611 3.23e-18 3.23 -18 -0.135 -0.174 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 2157.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR LDL direct (30780) EFO_0004611 7.33e-17 7.33 -17 0.946 0.766 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 107.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON BRCA1 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 4.71e-17 4.71 -17 10.524 18.232 EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 25.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 2.53e-14 2.53 -14 1.963 2.335 EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 166.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 7.71e-26 7.71 -26 3.079 3.798 EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 126.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ABCB4 Non cancer illness code self reported - cholelithiasis gall stones/ICD10 K80 EFO_0004210 5.53e-12 5.53 -12 1.481 1.656 EUR HANCESTRO_0005 UK Biobank 450k GCST90077705 329052 7073 392.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MSH6 Type of Cancer: Malignant neoplasm of corpus uteri (40006) EFO_0007532 3.16e-18 3.16 -18 19.019 36.913 EUR HANCESTRO_0005 UK Biobank 450k GCST90079110 41005 1612 23.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON CYP2R1 Vitamin D (30890) EFO_0004631 8.21e-20 8.21 -20 -0.22 -0.28 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 965.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NF1 Non cancer illness code self reported - other neurological problem/ICD10 G98 EFO_0000618 5.05e-38 5.05 -38 31.477 53.18 EUR HANCESTRO_0005 UK Biobank 450k GCST90077843 329052 1701 35.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 4.73e-25 4.73 -25 7.517 11.019 EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 48.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Treatment or Medication Code - warfarin EFO_0007010 5.36e-12 5.36 -12 2.208 2.766 EUR HANCESTRO_0005 UK Biobank 450k GCST90078123 320758 4740 102.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANGPTL7 Intra ocular pressure Goldmann correlated right (5255) EFO_0004695 6.079999999999999e-23 6.08 -23 -0.176 -0.22 EUR HANCESTRO_0005 UK Biobank 450k GCST90079334 105888 105888 1877.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 2.5599999999999998e-23 2.56 -23 5.967 8.484 EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 54.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON THBS4 6mm weak meridian left (5097) EFO_0004731 1.18e-11 1.18 -11 -0.119 -0.167 EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 1327.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 6.65e-28 6.65 -28 4.121 5.309 EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 94.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 6mm weak meridian left (5097) EFO_0004731 2.85e-17 2.85 -17 0.954 0.774 EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 95.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON NF1 ICD10 D36: Benign neoplasm of other and unspecified sites EFO_0002422 2.91e-52 2.91 -52 92.299 165.343 EUR HANCESTRO_0005 UK Biobank 450k GCST90079695 387660 899 34.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON NF1 ICD10 D36: Benign neoplasm of other and unspecified sites EFO_0002422 2.88e-31 2.88 -31 30.241 53.716 EUR HANCESTRO_0005 UK Biobank 450k GCST90079695 387660 899 28.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON NF1 ICD10 D36: Benign neoplasm of other and unspecified sites EFO_0002422 2.7100000000000004e-26 2.71 -26 7.583 11.025 EUR HANCESTRO_0005 UK Biobank 450k GCST90079695 387660 899 49.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NF1 ICD10 D36: Benign neoplasm of other and unspecified sites EFO_0002422 1.53e-31 1.53 -31 10.688 15.902 EUR HANCESTRO_0005 UK Biobank 450k GCST90079695 387660 899 47.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MEPE Heel bone mineral density BMD (3148) EFO_0009270 2.51e-38 2.51 -38 -0.308 -0.363 EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 985.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ALB Albumin (30600) EFO_0004535 4.0399999999999996e-55 4.04 -55 -0.384 -0.439 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 1128.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ALB Albumin (30600) EFO_0004535 5.07e-171 5.07 -171 -2.107 -2.266 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 134.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCA6 Albumin (30600) EFO_0004535 8.24e-13 8.24 -13 -0.105 -0.144 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 2206.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON FCGRT Albumin (30600) EFO_0004535 1.14e-13 1.14 -13 -1.43 -1.943 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 13.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON PIEZO1 ICD10 I83.9: Asymptomatic varicose veins of lower extremities HP_0002619 6.64e-13 6.64 -13 1.72 1.995 EUR HANCESTRO_0005 UK Biobank 450k GCST90080065 387815 11767 221.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Leg fat free mass left (23117) EFO_0004995 6.83e-13 6.83 -13 -0.08 -0.11 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 1485.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SRSF2 ICD10 A41: Other sepsis HP_0100806 6.56e-16 6.56 -16 8.388 14.053 EUR HANCESTRO_0005 UK Biobank 450k GCST90079546 387463 5918 28.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Leg fat free mass left (23117) EFO_0004995 1.4e-12 1.4 -12 0.425 0.333 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 157.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGF1R Leg fat free mass left (23117) EFO_0004995 1.95e-19 1.95 -19 -0.305 -0.389 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 185.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ACAN Leg fat free mass left (23117) EFO_0004995 2.58e-14 2.58 -14 -0.501 -0.674 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 44.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON LCORL Leg fat free mass left (23117) EFO_0004995 9.52e-13 9.52 -13 0.456 0.357 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 138.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 High light scatter reticulocyte percentage (30290) EFO_0010700 9.29e-26 9.29 -26 0.279 0.235 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1754.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SPTA1 High light scatter reticulocyte percentage (30290) EFO_0010700 1.0600000000000001e-35 1.06 -35 0.71 0.613 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 365.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON EPB41 High light scatter reticulocyte percentage (30290) EFO_0010700 2.44e-14 2.44 -14 0.675 0.537 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 178.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK Glucose (30740) EFO_0004468 9.12e-75 9.12 -75 1.119 1.011 EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 304.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON EIF2AK1 Immature reticulocyte fraction (30280) EFO_0010700 1.47e-16 1.47 -16 0.306 0.247 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 1015.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IFRD2 Immature reticulocyte fraction (30280) EFO_0010700 9.390000000000001e-70 9.39 -70 0.376 0.339 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 2475.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 High light scatter reticulocyte percentage (30290) EFO_0010700 1.73e-25 1.73 -25 0.276 0.233 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1767.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Immature reticulocyte fraction (30280) EFO_0010700 3.87e-16 3.87 -16 0.982 0.792 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 96.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON JAK2 Immature reticulocyte fraction (30280) EFO_0010700 2.97e-13 2.97 -13 0.19 0.15 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 2136.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON EIF2AK1 High light scatter reticulocyte percentage (30290) EFO_0010700 1.1e-14 1.1 -14 0.284 0.227 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1015.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON R3HDM4 High light scatter reticulocyte percentage (30290) EFO_0010700 4.99e-12 4.99 -12 0.618 0.481 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 181.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON IFRD2 High light scatter reticulocyte percentage (30290) EFO_0010700 1.4e-11 1.4 -11 0.512 0.397 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 254.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IFRD2 Immature reticulocyte fraction (30280) EFO_0010700 6.59e-40 6.59 -40 0.169 0.147 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 7383.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SPTB ICD10 D73: Diseases of spleen EFO_0009002 2.3e-14 2.3 -14 48.833 132.537 EUR HANCESTRO_0005 UK Biobank 450k GCST90079718 387896 692 10.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 High light scatter reticulocyte percentage (30290) EFO_0010700 9.29e-26 9.29 -26 0.279 0.235 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1754.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IFRD2 High light scatter reticulocyte percentage (30290) EFO_0010700 5.04e-39 5.04 -39 0.411 0.358 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1171.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GCK Glucose (30740) EFO_0004468 1.1999999999999999e-46 1.2 -46 0.795 0.7 EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 390.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LRP2 Creatinine (30700) EFO_0004518 5.04e-50 5.04 -50 -0.14 -0.161 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 4937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN ICD10 Z92.1: Personal history of long-term (current) use of anticoagulants (Z92.1) EFO_0000352 4.19e-14 4.19 -14 1.95 2.319 EUR HANCESTRO_0005 UK Biobank 450k GCST90081404 387930 15024 173.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON RNF186 Creatinine (30700) EFO_0004518 8.49e-12 8.49 -12 0.157 0.122 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 1798.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LRP2 Creatinine (30700) EFO_0004518 1.07e-35 1.07 -35 -0.082 -0.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 9778.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Trunk fat percentage (23127) EFO_0004324 2.12e-11 2.12 -11 0.213 0.165 EUR HANCESTRO_0005 UK Biobank 450k GCST90078930 423451 423451 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOC3 Creatinine (30700) EFO_0004518 1.4e-11 1.4 -11 0.142 0.11 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 2156.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PKHD1 Creatinine (30700) EFO_0004518 6.17e-13 6.17 -13 -0.055 -0.075 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 5325.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PKD2 Creatinine (30700) EFO_0004518 6.36e-12 6.36 -12 0.651 0.506 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 105.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Trunk fat percentage (23127) EFO_0004324 1.65e-11 1.65 -11 0.243 0.188 EUR HANCESTRO_0005 UK Biobank 450k GCST90078930 423451 423451 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD1 Creatinine (30700) EFO_0004518 5.9e-14 5.9 -14 0.328 0.26 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 476.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ALDH1L1 Creatinine (30700) EFO_0004518 1.76e-13 1.76 -13 -0.037 -0.05 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 12538.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC34A3 Creatinine (30700) EFO_0004518 4.6899999999999994e-23 4.69 -23 0.292 0.244 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 940.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC34A1 Creatinine (30700) EFO_0004518 1.94e-13 1.94 -13 0.211 0.166 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 1119.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON RNF186 Creatinine (30700) EFO_0004518 8.379999999999999e-24 8.38 -24 0.301 0.252 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 908.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ATM ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 3.11e-13 3.11 -13 1.519 1.699 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 398.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SRSF2 ICD10 D64: Other anemias EFO_0004272 1.65e-11 1.65 -11 4.426 6.824 EUR HANCESTRO_0005 UK Biobank 450k GCST90079712 384878 15647 35.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MSH2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.08e-11 1.08 -11 4.951 7.855 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 34.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 Type of Cancer: Malignant neoplasm of ovary (40006) EFO_0003893 9.7e-12 9.7 -12 5.02 7.985 EUR HANCESTRO_0005 UK Biobank 450k GCST90079111 41005 1106 31.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 1.02e-15 1.02 -15 0.532 0.427 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 50.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACAN Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 4.01e-30 4.01 -30 -0.817 -0.986 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 19.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON NPR2 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 3.2200000000000003e-21 3.22 -21 -0.14 -0.176 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 410.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON DTL Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 9.98e-12 9.98 -12 -0.252 -0.353 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 53.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SBNO2 Lymphocyte count (30120) EFO_0004587 4.24e-17 4.24 -17 0.645 0.523 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 228.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON SPHK1 Lymphocyte count (30120) EFO_0004587 3.3e-22 3.3 -22 0.136 0.113 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 6457.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SPHK1 Lymphocyte count (30120) EFO_0004587 7.9e-20 7.9 -20 0.133 0.11 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 6077.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ANKRD12 Townsend deprivation index at recruitment (189) EFO_0009711 3.55e-14 3.55 -14 0.518 0.412 EUR HANCESTRO_0005 UK Biobank 450k GCST90077617 430494 430494 318.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CHD2 Lymphocyte count (30120) EFO_0004587 1.97e-15 1.97 -15 1.445 1.159 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 41.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON NPR2 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 3.2200000000000003e-21 3.22 -21 -0.14 -0.176 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 410.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GCK OralDiabetes Med (RGC) EFO_0007010 6.19e-16 6.19 -16 8.203 13.663 EUR HANCESTRO_0005 UK Biobank 450k GCST90081503 320758 13132 30.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON NOTCH1 Lymphocyte count (30120) EFO_0004587 9.239999999999999e-30 9.24 -30 1.813 1.546 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 47.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MYD88 Lymphocyte count (30120) EFO_0004587 5.73e-37 5.73 -37 1.174 1.017 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 137.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON RASA3 Lymphocyte count (30120) EFO_0004587 5.96e-22 5.96 -22 -0.21 -0.263 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 1171.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 4.52e-35 4.52 -35 -0.8 -0.951 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 24.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON HNF1A DD DM - Yes (2443) EFO_0000400 3.72e-13 3.72 -13 6.853 11.518 EUR HANCESTRO_0005 UK Biobank 450k GCST90078949 429739 22058 28.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 2.54e-78 2.54 -78 3.182 3.592 EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 510.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MFRP corneal power (RGC) EFO_0004731 2e-11 2.0 -11 0.318 0.246 EUR HANCESTRO_0005 UK Biobank 450k GCST90081537 103531 103531 594.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MIP Eye problems disorders - Cataract (6148) MONDO_0005129 5.5e-14 5.5 -14 8.273 14.35 EUR HANCESTRO_0005 UK Biobank 450k GCST90079433 37798 18309 63.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 corneal power (RGC) EFO_0004731 3.85e-19 3.85 -19 0.93 0.763 EUR HANCESTRO_0005 UK Biobank 450k GCST90081537 103531 103531 109.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON RHAG Glycated haemoglobin HbA1c (30750) EFO_0004541 6.25e-67 6.25 -67 -0.627 -0.708 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 457.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ATP11C Glycated haemoglobin HbA1c (30750) EFO_0004541 7.97e-15 7.97 -15 -0.499 -0.667 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 70.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC30A8 Glycated haemoglobin HbA1c (30750) EFO_0004541 4.97e-20 4.97 -20 -0.178 -0.227 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 1256.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON EPB42 Glycated haemoglobin HbA1c (30750) EFO_0004541 4.53e-12 4.53 -12 -0.175 -0.244 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 611.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TG ICD10 E03: Other hypothyroidism EFO_0004705 1.39e-13 1.39 -13 2.007 2.413 EUR HANCESTRO_0005 UK Biobank 450k GCST90079722 383065 21010 157.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SPTA1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.72e-47 1.72 -47 -0.575 -0.665 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 364.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PFKM Glycated haemoglobin HbA1c (30750) EFO_0004541 9.66e-21 9.66 -21 -0.363 -0.459 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 317.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PLA2G12A Glycated haemoglobin HbA1c (30750) EFO_0004541 2.93e-15 2.93 -15 -0.058 -0.077 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 8108.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MAP3K15 Glycated haemoglobin HbA1c (30750) EFO_0004541 7.77e-30 7.77 -30 -0.07 -0.085 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 7551.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PIEZO1 Glycated haemoglobin HbA1c (30750) EFO_0004541 3.18e-17 3.18 -17 -0.084 -0.11 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 4553.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANK1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.06e-11 1.06 -11 -0.056 -0.078 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 5897.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PFKM Glycated haemoglobin HbA1c (30750) EFO_0004541 2.1299999999999998e-39 2.13 -39 -0.232 -0.273 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 1782.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 Z93.2: Ileostomy status EFO_0002571 1.1e-21 1.1 -21 50.818 113.64 EUR HANCESTRO_0005 UK Biobank 450k GCST90081413 387887 1429 16.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASXL1 Ever smoked - Yes (20160) EFO_0006527 6.19e-20 6.19 -20 1.851 2.112 EUR HANCESTRO_0005 UK Biobank 450k GCST90078324 429301 263214 934.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 ICD10 Q61: Cystic kidney disease EFO_0008615 4.13e-75 4.13 -75 9.522 12.116 EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 126.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD2 ICD10 Q61: Cystic kidney disease EFO_0008615 8.32e-30 8.32 -30 162.033 390.398 EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 16.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON APC ICD10 K31.7: Polyp of stomach and duodenum MONDO_0008277 1.7e-15 1.7 -15 16.091 31.887 EUR HANCESTRO_0005 UK Biobank 450k GCST90080210 387782 6198 18.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD2 ICD10 Q61: Cystic kidney disease EFO_0008615 1.95e-69 1.95 -69 380.586 737.228 EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 34.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD2 ICD10 Q61: Cystic kidney disease EFO_0008615 1.95e-69 1.95 -69 380.586 737.228 EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 34.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD1 ICD10 Q61: Cystic kidney disease EFO_0008615 4.76e-123 4.76 -123 207.08 322.526 EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 68.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON UBR2 Leg fat percentage right (23111) EFO_0007800 4.12e-12 4.12 -12 0.438 0.341 EUR HANCESTRO_0005 UK Biobank 450k GCST90078914 423666 423666 141.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON FLG ICD10 J45: Asthma MONDO_0004979 5.2e-13 5.2 -13 1.232 1.303 EUR HANCESTRO_0005 UK Biobank 450k GCST90080141 383974 39436 1513.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 Current tobacco smoking - Yes on most or all days (1239) EFO_0005671 8.65e-15 8.65 -15 1.523 1.693 EUR HANCESTRO_0005 UK Biobank 450k GCST90077584 430498 33523 442.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 7.38e-18 7.38 -18 4.677 6.646 EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 50.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PDE3B Weight (23098) EFO_0004338 3.34e-13 3.34 -13 0.166 0.131 EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 2067.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON JAK2 ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 3.7500000000000003e-26 3.75 -26 5.148 6.973 EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 67.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CALR ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 4.54e-16 4.54 -16 36.256 86.224 EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 13.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SHBG Testosterone (30850) EFO_0004908 7.4e-217 7.4 -217 -0.228 -0.243 EUR HANCESTRO_0005 UK Biobank 450k GCST90079042 373826 373826 5943.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS17 Forced vital capacity FVC Best measure (20151) EFO_0004312 1.08e-14 1.08 -14 -0.068 -0.092 EUR HANCESTRO_0005 UK Biobank 450k GCST90078317 322002 322002 3138.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADAMTS17 Forced vital capacity FVC Best measure (20151) EFO_0004312 1.57e-16 1.57 -16 -0.095 -0.125 EUR HANCESTRO_0005 UK Biobank 450k GCST90078317 322002 322002 1921.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC1R Use of sun uv protection - Sometimes (2267) EFO_0010729 1.97e-13 1.97 -13 0.811 0.858 EUR HANCESTRO_0005 UK Biobank 450k GCST90078880 430409 150448 1795.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Impedance of leg left (23108) HP_0000924 1.19e-11 1.19 -11 0.098 0.076 EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 5849.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS3 Impedance of leg left (23108) HP_0000924 2.32e-17 2.32 -17 -0.145 -0.188 EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 1455.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Impedance of leg left (23108) HP_0000924 8.12e-15 8.12 -15 -0.349 -0.467 EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 197.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Impedance of leg left (23108) HP_0000924 3.11e-17 3.11 -17 0.133 0.108 EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 4408.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADAMTS3 Impedance of leg left (23108) HP_0000924 1.37e-39 1.37 -39 -0.128 -0.151 EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 5509.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Non cancer illness code self reported - atrial fibrillation EFO_0000275 2e-15 2.0 -15 2.33 2.871 EUR HANCESTRO_0005 UK Biobank 450k GCST90077881 331754 3921 120.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MEPE Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 5.43e-38 5.43 -38 -0.307 -0.362 EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 985.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON INSC Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 7.44e-15 7.44 -15 0.1 0.08 EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 7653.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN HF (RGC) EFO_0003144 8.55e-30 8.55 -30 2.575 3.032 EUR HANCESTRO_0005 UK Biobank 450k GCST90081485 387050 8159 206.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Arm fat free mass right (23121) EFO_0004995 3.36e-19 3.36 -19 0.177 0.145 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IRS1 Arm fat free mass right (23121) EFO_0004995 1.27e-22 1.27 -22 -0.372 -0.466 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 140.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN HF (RGC) EFO_0003144 3.62e-23 3.62 -23 4.453 5.983 EUR HANCESTRO_0005 UK Biobank 450k GCST90081485 387050 8159 73.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON PAPPA2 Arm fat free mass right (23121) EFO_0004995 8.69e-14 8.69 -14 -0.069 -0.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 2008.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Arm fat free mass right (23121) EFO_0004995 3.56e-18 3.56 -18 -0.352 -0.454 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 115.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN HF (RGC) EFO_0003144 1.95e-21 1.95 -21 2.085 2.425 EUR HANCESTRO_0005 UK Biobank 450k GCST90081485 387050 8159 226.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IRS1 Arm fat free mass right (23121) EFO_0004995 1.27e-22 1.27 -22 -0.372 -0.466 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 140.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACAN Arm fat free mass right (23121) EFO_0004995 3.56e-18 3.56 -18 -0.352 -0.454 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 115.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Arm fat free mass right (23121) EFO_0004995 1.44e-15 1.44 -15 -0.509 -0.674 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 44.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON PIEZO1 Arm fat free mass right (23121) EFO_0004995 1.03e-12 1.03 -12 -0.019 -0.026 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 24585.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R Arm fat free mass right (23121) EFO_0004995 6.8e-13 6.8 -13 -0.076 -0.105 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 1485.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Arm fat free mass right (23121) EFO_0004995 4.02e-12 4.02 -12 0.355 0.277 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 197.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PTPN11 Arm fat free mass right (23121) EFO_0004995 1.08e-11 1.08 -11 -0.149 -0.21 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 332.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PAPPA2 Arm fat free mass right (23121) EFO_0004995 6.27e-14 6.27 -14 -0.077 -0.105 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 1621.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Arm fat free mass right (23121) EFO_0004995 4.2900000000000005e-27 4.29 -27 -0.097 -0.118 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 2642.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN HF (RGC) EFO_0003144 3.12e-34 3.12 -34 3.368 4.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90081485 387050 8159 156.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON DTL Standing height (50) EFO_0004339 2.39e-21 2.39 -21 -0.191 -0.24 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 530.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SCUBE3 Standing height (50) EFO_0004339 3.01e-19 3.01 -19 -0.398 -0.509 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 105.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON NPR2 Standing height (50) EFO_0004339 5.76e-40 5.76 -40 -0.329 -0.386 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 394.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PIEZO1 Standing height (50) EFO_0004339 1.61e-16 1.61 -16 -0.093 -0.122 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1518.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PIEZO1 Standing height (50) EFO_0004339 2.18e-37 2.18 -37 -0.091 -0.107 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 4766.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NF1 Standing height (50) EFO_0004339 8.84e-13 8.84 -13 -0.137 -0.189 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 480.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ANGPTL2 Standing height (50) EFO_0004339 3.68e-12 3.68 -12 -0.103 -0.143 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 795.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IHH Standing height (50) EFO_0004339 1.27e-13 1.27 -13 -0.917 -1.247 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 12.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Standing height (50) EFO_0004339 1.57e-19 1.57 -19 -0.106 -0.135 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1508.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PIEZO1 Standing height (50) EFO_0004339 1.61e-16 1.61 -16 -0.093 -0.122 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1518.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS3 Standing height (50) EFO_0004339 3.09e-17 3.09 -17 -0.08 -0.104 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2216.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GYG1 Standing height (50) EFO_0004339 6.75e-15 6.75 -15 -0.052 -0.07 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 4239.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PDE3B Standing height (50) EFO_0004339 4.21e-19 4.21 -19 0.138 0.113 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2097.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON EXD1 Standing height (50) EFO_0004339 5.85e-12 5.85 -12 -0.032 -0.044 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 8218.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NPR3 Standing height (50) EFO_0004339 7.140000000000001e-32 7.14 -32 0.112 0.096 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 5067.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON STC2 Standing height (50) EFO_0004339 1.42e-37 1.42 -37 0.171 0.148 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2532.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Standing height (50) EFO_0004339 2.32e-19 2.32 -19 1.026 0.843 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 38.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON ADAMTS10 Standing height (50) EFO_0004339 3.32e-14 3.32 -14 -0.328 -0.442 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 98.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GHRH Standing height (50) EFO_0004339 2.19e-20 2.19 -20 -0.348 -0.441 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 146.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IHH Standing height (50) EFO_0004339 1.52e-12 1.52 -12 -0.993 -1.374 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 9.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON MIP Non cancer illness code self reported - cataract MONDO_0005129 1.19e-12 1.19 -12 10.297 19.589 EUR HANCESTRO_0005 UK Biobank 450k GCST90077756 331754 8629 19.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Standing height (50) EFO_0004339 1.53e-15 1.53 -15 0.62 0.498 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 86.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON FGFR3 Standing height (50) EFO_0004339 7.01e-20 7.01 -20 -0.099 -0.125 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1779.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HTRA1 Standing height (50) EFO_0004339 2.96e-13 2.96 -13 -0.144 -0.197 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 457.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS3 Standing height (50) EFO_0004339 4.01e-16 4.01 -16 -0.143 -0.189 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 623.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SPSB3 Standing height (50) EFO_0004339 1.98e-16 1.98 -16 -0.045 -0.058 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 6610.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PIEZO1 Standing height (50) EFO_0004339 9.39e-28 9.39 -28 -0.056 -0.069 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 8573.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGF1R Standing height (50) EFO_0004339 1.66e-29 1.66 -29 -0.225 -0.272 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 577.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MEPE Speed of sound through heel right (4122) EFO_0005654 1.2199999999999999e-23 1.22 -23 -0.281 -0.349 EUR HANCESTRO_0005 UK Biobank 450k GCST90079156 166358 166358 653.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON OCA2 Skin colour - Fair (1717) EFO_0003784 1.72e-14 1.72 -14 1.19 1.244 EUR HANCESTRO_0005 UK Biobank 450k GCST90077598 425361 304034 8043.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Non cancer illness code self reported - angina EFO_0003913 1.11e-15 1.11 -15 2.295 2.811 EUR HANCESTRO_0005 UK Biobank 450k GCST90077655 331754 14285 134.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR Non cancer illness code self reported - angina EFO_0003913 1.11e-15 1.11 -15 2.295 2.811 EUR HANCESTRO_0005 UK Biobank 450k GCST90077655 331754 14285 134.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 3mm weak meridian right (5099) EFO_0004731 3.69e-19 3.69 -19 0.94 0.771 EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 108.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 Ever had hysterectomy womb removed - Yes (3591) EFO_0003881 1.19e-12 1.19 -12 3.42 4.8 EUR HANCESTRO_0005 UK Biobank 450k GCST90079065 207093 18107 58.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TTN ICD10 I51: Complications and ill-defined descriptions of heart disease EFO_0003777 2.08e-11 2.08 -11 1.934 2.346 EUR HANCESTRO_0005 UK Biobank 450k GCST90080027 385880 6712 133.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN ICD10 I51: Complications and ill-defined descriptions of heart disease EFO_0003777 6.81e-13 6.81 -13 2.354 2.973 EUR HANCESTRO_0005 UK Biobank 450k GCST90080027 385880 6712 96.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON OCA2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 4.96e-36 4.96 -36 0.48 0.538 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 389.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON OCA2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 2.68e-298 2.68 -298 0.428 0.448 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 2420.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TYRP1 Hair colour natural before greying - Dark brown (1747) EFO_0007822 7.57e-13 7.57 -13 0.358 0.474 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 59.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TYR Hair colour natural before greying - Dark brown (1747) EFO_0007822 3.15e-16 3.15 -16 0.802 0.846 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 2441.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC1R Hair colour natural before greying - Dark brown (1747) EFO_0007822 7.71e-14 7.71 -14 0.432 0.539 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 121.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CEBPE Monocyte percentage (30190) EFO_0007989 8.21e-34 8.21 -34 0.152 0.131 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 6983.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MPO Monocyte percentage (30190) EFO_0007989 2.42e-50 2.42 -50 -0.139 -0.16 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 7086.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IL17RA Monocyte percentage (30190) EFO_0007989 1.16e-11 1.16 -11 -0.337 -0.473 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 166.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLCO1B1 Direct bilirubin (30660) EFO_0004570 5.629999999999999e-45 5.63 -45 0.306 0.269 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1859.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A6 Direct bilirubin (30660) EFO_0004570 2.78e-38 2.78 -38 0.399 0.347 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1161.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Direct bilirubin (30660) EFO_0004570 2.05e-12 2.05 -12 0.808 0.632 SAS HANCESTRO_0006 UK Biobank 450k 8157 8157 95.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPTA1 Direct bilirubin (30660) EFO_0004570 4.1200000000000004e-27 4.12 -27 0.567 0.48 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 333.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON UGT1A10 Direct bilirubin (30660) EFO_0004570 3.3499999999999997e-38 3.35 -38 0.469 0.407 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 839.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON UGT1A10 Direct bilirubin (30660) EFO_0004570 1.72e-59 1.72 -59 0.396 0.353 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1766.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A1 Direct bilirubin (30660) EFO_0004570 4.58e-43 4.58 -43 0.432 0.378 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1103.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MROH2A Direct bilirubin (30660) EFO_0004570 1.45e-13 1.45 -13 -0.094 -0.128 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 2799.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A1 Direct bilirubin (30660) EFO_0004570 2.96e-19 2.96 -19 0.729 0.598 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 187.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SH2B3 Direct bilirubin (30660) EFO_0004570 1.72e-11 1.72 -11 0.128 0.099 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 3135.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC4A1 Direct bilirubin (30660) EFO_0004570 4.2e-12 4.2 -12 0.23 0.179 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 990.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON UGT1A1 Direct bilirubin (30660) EFO_0004570 2.96e-19 2.96 -19 0.729 0.598 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 187.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A9 Direct bilirubin (30660) EFO_0004570 3.24e-16 3.24 -16 0.492 0.397 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 352.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLCO1B3 Direct bilirubin (30660) EFO_0004570 9.86e-69 9.86 -69 0.334 0.3 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 2304.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLCO1B3 Direct bilirubin (30660) EFO_0004570 1.77e-15 1.77 -15 0.415 0.333 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 384.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 Self Report - breast cancer (20001) EFO_0000305 4.91e-14 4.91 -14 3.691 5.184 EUR HANCESTRO_0005 UK Biobank 450k GCST90077626 39614 10070 110.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CALR ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 4.3799999999999995e-61 4.38 -61 387.89 787.79 EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 31.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 8.38e-20 8.38 -20 7.601 11.761 EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 36.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 Self Report - breast cancer (20001) EFO_0000305 2.43e-28 2.43 -28 5.573 7.561 EUR HANCESTRO_0005 UK Biobank 450k GCST90077626 39614 10070 160.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASXL1 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 5.81e-14 5.81 -14 8.741 15.388 EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 22.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CALR ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 3.9e-37 3.9 -37 38.783 68.106 EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 31.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON APC ICD10 D13: Benign neoplasm of other and ill-defined parts of digestive system EFO_0002422 6.31e-13 6.31 -13 6.01 9.797 EUR HANCESTRO_0005 UK Biobank 450k GCST90079664 387696 1532 27.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON APC ICD10 D13: Benign neoplasm of other and ill-defined parts of digestive system EFO_0002422 2.3300000000000002e-29 2.33 -29 71.302 149.957 EUR HANCESTRO_0005 UK Biobank 450k GCST90079664 387696 1532 20.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON IRS1 Arm predicted mass left (23126) EFO_0004302 6.8e-20 6.8 -20 -0.348 -0.443 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 140.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Arm predicted mass left (23126) EFO_0004302 3.37e-13 3.37 -13 0.422 0.333 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 157.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACAN Arm predicted mass left (23126) EFO_0004302 1.86e-18 1.86 -18 -0.49 -0.631 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 63.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PAPPA2 Arm predicted mass left (23126) EFO_0004302 1.31e-11 1.31 -11 -0.069 -0.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 1620.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Arm predicted mass left (23126) EFO_0004302 4.84e-14 4.84 -14 0.339 0.269 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 257.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Arm predicted mass left (23126) EFO_0004302 1.24e-20 1.24 -20 -0.082 -0.104 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 2642.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON IGF1R Arm predicted mass left (23126) EFO_0004302 1.14e-15 1.14 -15 -0.145 -0.192 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 568.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC4R Arm predicted mass left (23126) EFO_0004302 1.26e-22 1.26 -22 0.22 0.183 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Arm predicted mass left (23126) EFO_0004302 2.9e-12 2.9 -12 0.351 0.274 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 213.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ASXL1 Platelet distribution width (30110) EFO_0007984 4.9100000000000005e-64 4.91 -64 0.502 0.45 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1167.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Platelet distribution width (30110) EFO_0007984 3.0100000000000004e-32 3.01 -32 0.293 0.251 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1779.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GP1BA Platelet distribution width (30110) EFO_0007984 1.4e-32 1.4 -32 0.931 0.799 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 178.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON DOCK5 Platelet distribution width (30110) EFO_0007984 3.97e-12 3.97 -12 -0.214 -0.298 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 433.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON DOCK5 Platelet distribution width (30110) EFO_0007984 3.97e-12 3.97 -12 -0.214 -0.298 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 433.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLFN14 Platelet distribution width (30110) EFO_0007984 1.84e-14 1.84 -14 -0.254 -0.341 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 406.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PLEKHO2 Platelet distribution width (30110) EFO_0007984 1.36e-13 1.36 -13 0.197 0.156 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1806.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLFN14 Platelet distribution width (30110) EFO_0007984 1.84e-14 1.84 -14 -0.254 -0.341 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 406.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GP1BA Platelet distribution width (30110) EFO_0007984 2.09e-18 2.09 -18 1.018 0.832 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 89.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 4.45e-15 4.45 -15 -1.548 -2.064 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON KLF1 Mean corpuscular haemoglobin (30050) EFO_0004527 5.57e-16 5.57 -16 -0.892 -1.177 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 37.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TMPRSS6 Mean corpuscular haemoglobin (30050) EFO_0004527 7.420000000000001e-26 7.42 -26 -0.636 -0.782 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 142.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 6.53e-227 6.53 -227 -2.689 -2.863 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 98.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GMPR Mean corpuscular haemoglobin (30050) EFO_0004527 5.12e-74 5.12 -74 0.45 0.406 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1619.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON E2F4 Mean corpuscular haemoglobin (30050) EFO_0004527 1.9e-21 1.9 -21 2.068 1.714 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 24.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC4A1 Mean corpuscular haemoglobin (30050) EFO_0004527 1.49e-11 1.49 -11 0.841 0.652 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 83.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TMPRSS6 Mean corpuscular haemoglobin (30050) EFO_0004527 5.649999999999999e-45 5.65 -45 -0.565 -0.656 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 361.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CHTF18 Mean corpuscular haemoglobin (30050) EFO_0004527 2.79e-18 2.79 -18 0.305 0.249 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 959.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 2.3e-23 2.3 -23 -1.72 -2.141 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 21.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 4.45e-15 4.45 -15 -1.548 -2.064 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RTEL1 Mean corpuscular haemoglobin (30050) EFO_0004527 8.71e-18 8.71 -18 0.222 0.181 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1760.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBQ1 Mean corpuscular haemoglobin (30050) EFO_0004527 6.72e-25 6.72 -25 -0.602 -0.744 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 233.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 1.04e-103 1.04 -103 -1.922 -2.114 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Non cancer illness code self reported - atrial fibrillation/ICD10 I48 EFO_0000275 1.06e-18 1.06 -18 2.82 3.55 EUR HANCESTRO_0005 UK Biobank 450k GCST90077882 329052 3763 104.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON INSC Speed of sound through heel (3146) EFO_0005654 7.41e-12 7.41 -12 0.091 0.071 EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 7653.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Non cancer illness code self reported - atrial fibrillation/ICD10 I48 EFO_0000275 1.07e-19 1.07 -19 3.535 4.642 EUR HANCESTRO_0005 UK Biobank 450k GCST90077882 329052 3763 79.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON IGF1R Trunk fat free mass (23129) EFO_0004995 1.71e-14 1.71 -14 -0.084 -0.112 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 1485.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Non cancer illness code self reported - atrial fibrillation/ICD10 I48 EFO_0000275 1.07e-19 1.07 -19 3.535 4.642 EUR HANCESTRO_0005 UK Biobank 450k GCST90077882 329052 3763 79.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PAPPA2 Trunk fat free mass (23129) EFO_0004995 2.01e-14 2.01 -14 -0.072 -0.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 2007.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PRPH2 Eye problems disorders - Macular degeneration (6148) EFO_0009606 2.26e-16 2.26 -16 8.781 14.753 EUR HANCESTRO_0005 UK Biobank 450k GCST90079434 37798 4185 35.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PTPRJ Trunk fat free mass (23129) EFO_0004995 1.57e-11 1.57 -11 -0.152 -0.214 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 316.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IRS1 Trunk fat free mass (23129) EFO_0004995 1.9e-25 1.9 -25 -0.405 -0.499 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 140.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Trunk fat free mass (23129) EFO_0004995 4.04e-73 4.04 -73 0.139 0.125 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 6708.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SCUBE3 Trunk fat free mass (23129) EFO_0004995 3.96e-15 3.96 -15 -0.074 -0.098 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 2062.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACAN Arm predicted mass right (23122) EFO_0004302 8.410000000000001e-21 8.41 -21 -0.52 -0.657 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 63.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ABCB4 Non cancer illness code self reported - cholelithiasis gall stones EFO_0004210 4.31e-14 4.31 -14 1.511 1.682 EUR HANCESTRO_0005 UK Biobank 450k GCST90077704 331754 7669 432.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 Mothers age at death (3526) EFO_0007796 3.18e-20 3.18 -20 -0.32 -0.406 EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 469.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Arm predicted mass right (23122) EFO_0004302 8.410000000000001e-21 8.41 -21 -0.52 -0.657 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 63.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON APC ICD10 D13.1: Benign neoplasm of stomach MONDO_0021449 1.5e-13 1.5 -13 17.563 37.568 EUR HANCESTRO_0005 UK Biobank 450k GCST90079663 387930 1028 14.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON APC ICD10 D13.1: Benign neoplasm of stomach MONDO_0021449 4.6200000000000004e-27 4.62 -27 91.43 207.911 EUR HANCESTRO_0005 UK Biobank 450k GCST90079663 387930 1028 17.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ABCA1 Cholesterol (30690) EFO_0004574 1.48e-18 1.48 -18 -0.404 -0.52 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 240.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON APOB Cholesterol (30690) EFO_0004574 7.4e-64 7.4 -64 -0.212 -0.239 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 4350.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB Cholesterol (30690) EFO_0004574 1.08e-18 1.08 -18 -0.078 -0.1 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 6780.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 Cholesterol (30690) EFO_0004574 3.9200000000000003e-31 3.92 -31 -0.512 -0.616 AFR HANCESTRO_0010 UK Biobank 450k 8543 8543 320.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Cholesterol (30690) EFO_0004574 1.68e-29 1.68 -29 0.631 0.538 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 382.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PCSK9 Cholesterol (30690) EFO_0004574 7.52e-80 7.52 -80 -0.587 -0.654 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 709.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON FGB Cholesterol (30690) EFO_0004574 1.92e-12 1.92 -12 0.104 0.081 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 6419.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 Cholesterol (30690) EFO_0004574 3.9200000000000003e-31 3.92 -31 -0.512 -0.616 AFR HANCESTRO_0010 UK Biobank 450k 8543 8543 320.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB Cholesterol (30690) EFO_0004574 4.92e-92 4.92 -92 -0.525 -0.581 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 1040.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GIGYF1 Cholesterol (30690) EFO_0004574 1.09e-13 1.09 -13 -0.473 -0.643 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 112.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TUBB1 Platelet count (30080) EFO_0004309 1.88e-116 1.88 -116 -0.208 -0.227 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 7843.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 2.2300000000000002e-307 2.23 -307 -1.285 -1.351 EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 720.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 2.2300000000000002e-307 2.23 -307 -1.197 -1.241 EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 1618.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ABCB4 Alanine aminotransferase (30620) EFO_0004735 2.38e-12 2.38 -12 0.43 0.336 EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 352.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BAK1 Platelet count (30080) EFO_0004309 2.58e-16 2.58 -16 0.407 0.328 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 475.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON JAK2 Platelet count (30080) EFO_0004309 1.5100000000000001e-27 1.51 -27 0.891 0.755 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 159.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 8.18e-28 8.18 -28 -1.316 -1.604 EAS HANCESTRO_0009 UK Biobank 450k 2108 2108 44.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 Platelet count (30080) EFO_0004309 2.46e-18 2.46 -18 -0.152 -0.196 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1517.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON JAK2 Platelet count (30080) EFO_0004309 4.26e-166 4.26 -166 0.553 0.516 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 2164.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ABCB4 Alanine aminotransferase (30620) EFO_0004735 2.28e-16 2.28 -16 0.666 0.538 EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 188.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 1.0300000000000001e-21 1.03 -21 -0.88 -1.106 AFR HANCESTRO_0010 UK Biobank 450k 8544 8544 65.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GP1BA Platelet count (30080) EFO_0004309 3.03e-47 3.03 -47 -0.362 -0.419 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 902.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON JAK2 Platelet count (30080) EFO_0004309 1.85e-44 1.85 -44 0.375 0.329 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1387.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CHEK2 Platelet count (30080) EFO_0004309 3.5e-14 3.5 -14 0.125 0.1 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 5041.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TUBB1 Platelet count (30080) EFO_0004309 1.62e-23 1.62 -23 -0.741 -0.921 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 89.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON APOB Alanine aminotransferase (30620) EFO_0004735 6.23e-18 6.23 -18 0.36 0.293 EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 700.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ABCB4 Alanine aminotransferase (30620) EFO_0004735 2.38e-12 2.38 -12 0.43 0.336 EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 352.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 2.36e-12 2.36 -12 -0.902 -1.252 SAS HANCESTRO_0006 UK Biobank 450k 9830 9830 28.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ITGA2B Platelet count (30080) EFO_0004309 6.06e-18 6.06 -18 -0.297 -0.384 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 385.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TUBB1 Platelet count (30080) EFO_0004309 8.86e-13 8.86 -13 -0.521 -0.718 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 75.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON PKD1 ICD10 Z99: Dependence on enabling machines and devices, not elsewhere classified EFO_0002571 5.390000000000001e-29 5.39 -29 16.379 26.745 EUR HANCESTRO_0005 UK Biobank 450k GCST90081445 385473 3699 35.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 ICD10 D70: Neutropenia MONDO_0001475 6.8e-19 6.8 -19 3.517 4.643 EUR HANCESTRO_0005 UK Biobank 450k GCST90079716 387075 4407 75.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 ICD10 D70: Neutropenia MONDO_0001475 6.8e-19 6.8 -19 3.517 4.643 EUR HANCESTRO_0005 UK Biobank 450k GCST90079716 387075 4407 75.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON KLHDC7B Hearing difficulty problems - Yes (2247) EFO_0007616 4.21e-28 4.21 -28 1.962 2.212 EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 511.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON KLHDC7B Hearing difficulty problems - Yes (2247) EFO_0007616 4.21e-28 4.21 -28 1.962 2.212 EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 511.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TECTA Hearing difficulty problems background noise - Yes (2257) EFO_0007616 5.73e-12 5.73 -12 1.288 1.384 EUR HANCESTRO_0005 UK Biobank 450k GCST90078878 422872 167296 1441.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON KLHDC7B Hearing difficulty problems - Yes (2247) EFO_0007616 4.21e-28 4.21 -28 1.962 2.212 EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 511.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON KDM5B Hand grip strength left (46) EFO_0006941 2.21e-15 2.21 -15 -0.25 -0.332 EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 256.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Hand grip strength left (46) EFO_0006941 1.93e-11 1.93 -11 -0.042 -0.059 EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 5940.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR CAD Loose CC (RGC) EFO_0001645 1.2299999999999998e-23 1.23 -23 2.318 2.732 EUR HANCESTRO_0005 UK Biobank 450k GCST90081465 387011 33971 227.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR ICD10 E78: Disorders of lipoprotein metabolism and other lipidemias Orphanet_79062 2.05e-38 2.05 -38 5.123 6.558 EUR HANCESTRO_0005 UK Biobank 450k GCST90079768 372199 51365 141.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LDLR ICD10 E78: Disorders of lipoprotein metabolism and other lipidemias Orphanet_79062 1.8e-17 1.8 -17 3.435 4.564 EUR HANCESTRO_0005 UK Biobank 450k GCST90079768 372199 51365 94.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TNRC6B Hand grip strength left (46) EFO_0006941 3.54e-12 3.54 -12 -0.336 -0.467 EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 99.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ALB Total protein (30860) EFO_0004536 6.53e-16 6.53 -16 -0.321 -0.423 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 325.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR ICD10 Z82.4: Family history of ischemic heart disease and other diseases of the circulatory system EFO_0000493 2.09e-11 2.09 -11 1.598 1.833 EUR HANCESTRO_0005 UK Biobank 450k GCST90081337 340245 43852 284.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CHD2 ICD10 C91: Lymphoid leukemia EFO_0004289 8.7e-17 8.7 -17 70.944 193.584 EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 11.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MYBPC3 ICD10 I42: Cardiomyopathy EFO_0000318 4.51e-25 4.51 -25 31.625 60.852 EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 22.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TP53 ICD10 C91: Lymphoid leukemia EFO_0004289 2.99e-14 2.99 -14 13.885 27.368 EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 17.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 I42: Cardiomyopathy EFO_0000318 4.57e-36 4.57 -36 12.514 18.575 EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 50.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON NOTCH1 ICD10 C91: Lymphoid leukemia EFO_0004289 1.4900000000000001e-33 1.49 -33 258.404 636.738 EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 18.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PROS1 VTE PE CC (RGC) EFO_0003827 4.08e-12 4.08 -12 2.826 3.791 EUR HANCESTRO_0005 UK Biobank 450k GCST90081536 376456 5226 63.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PROS1 VTE PE CC (RGC) EFO_0004286 4.08e-12 4.08 -12 2.826 3.791 EUR HANCESTRO_0005 UK Biobank 450k GCST90081536 376456 5226 63.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PALB2 Type of Cancer: Malignant neoplasm of breast (40006) EFO_0003869 5.19e-12 5.19 -12 3.448 4.901 EUR HANCESTRO_0005 UK Biobank 450k GCST90079108 41005 12472 77.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MLH1 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 2.88e-14 2.88 -14 2.99 3.965 EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 70.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MLH1 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 4.27e-31 4.27 -31 57.945 115.075 EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 25.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TYR Skin colour - Very fair (1717) EFO_0003784 1.3e-19 1.3 -19 2.68 3.316 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 134.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MFRP 3mm weak meridian left (5096) EFO_0004731 1.81e-11 1.81 -11 0.32 0.248 EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 594.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TYR Skin colour - Very fair (1717) EFO_0003784 4.52e-22 4.52 -22 1.481 1.604 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 819.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON WNT1 Heel bone mineral density BMD right (4124) EFO_0009270 1.23e-12 1.23 -12 -0.349 -0.482 EUR HANCESTRO_0005 UK Biobank 450k GCST90079158 166266 166266 167.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SMAD6 3mm weak meridian left (5096) EFO_0004731 1.41e-14 1.41 -14 0.431 0.343 EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 404.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON OCA2 Skin colour - Very fair (1717) EFO_0003784 7.45e-28 7.45 -28 5.326 7.186 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 85.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 3mm weak meridian left (5096) EFO_0004731 4.96e-17 4.96 -17 0.473 0.384 EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 384.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IFT140 ICD10 N28.1: Cyst of kidney, acquired EFO_0009690 1.16e-18 1.16 -18 8.24 13.166 EUR HANCESTRO_0005 UK Biobank 450k GCST90080592 387926 1824 32.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SIX6 avMSE (20261) EFO_0008385 3.76e-18 3.76 -18 -0.172 -0.222 EUR HANCESTRO_0005 UK Biobank 450k GCST90078391 94332 94332 1333.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR ICD10 E78.0: Pure hypercholesterolemia HP_0003124 3.25e-54 3.25 -54 2.721 3.089 EUR HANCESTRO_0005 UK Biobank 450k GCST90079766 378271 45730 423.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CKAP2L Mean platelet thrombocyte volume (30100) EFO_0004584 4.32e-17 4.32 -17 -0.188 -0.245 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 841.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IQGAP2 Mean platelet thrombocyte volume (30100) EFO_0004584 4.71e-198 4.71 -198 0.717 0.673 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1430.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BIN2 Mean platelet thrombocyte volume (30100) EFO_0004584 2.3e-16 2.3 -16 -0.223 -0.293 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 590.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MOB3C Mean platelet thrombocyte volume (30100) EFO_0004584 1.43e-14 1.43 -14 -0.206 -0.276 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 567.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TMCC2 Mean platelet thrombocyte volume (30100) EFO_0004584 9.55e-13 9.55 -13 -0.134 -0.185 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1090.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SDPR Mean platelet thrombocyte volume (30100) EFO_0004584 1.48e-13 1.48 -13 -0.168 -0.229 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 751.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Weight (21002) EFO_0004338 4.63e-14 4.63 -14 0.193 0.153 EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 1618.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TPM4 Mean platelet thrombocyte volume (30100) EFO_0004584 1.75e-18 1.75 -18 1.68 1.373 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 29.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC45A2 Hair colour natural before greying - Blonde (1747) EFO_0007822 1.11e-22 1.11 -22 3.802 4.966 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 107.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 Mean platelet thrombocyte volume (30100) EFO_0004584 1.41e-17 1.41 -17 0.227 0.185 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1517.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SVEP1 Mean platelet thrombocyte volume (30100) EFO_0004584 7.21e-14 7.21 -14 -0.263 -0.356 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 312.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON EXOC3L4 Mean platelet thrombocyte volume (30100) EFO_0004584 7.51e-75 7.51 -75 -0.326 -0.365 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1788.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ITGB3 Mean platelet thrombocyte volume (30100) EFO_0004584 5.1e-16 5.1 -16 0.172 0.139 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 2455.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RAB32 Hair colour natural before greying - Blonde (1747) EFO_0007822 6.2e-12 6.2 -12 2.6 3.414 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 89.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC12A9 Hair colour natural before greying - Blonde (1747) EFO_0007822 4.82e-37 4.82 -37 2.415 2.766 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 360.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CKAP2L Mean platelet thrombocyte volume (30100) EFO_0004584 3.92e-25 3.92 -25 -0.403 -0.497 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 311.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TPM4 Mean platelet thrombocyte volume (30100) EFO_0004584 1.59e-14 1.59 -14 1.915 1.526 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 18.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON RAB32 Hair colour natural before greying - Blonde (1747) EFO_0007822 1.07e-17 1.07 -17 2.503 3.088 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 150.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TYRP1 Hair colour natural before greying - Blonde (1747) EFO_0007822 1.13e-71 1.13 -71 2.757 3.08 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 555.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GP1BA Mean platelet thrombocyte volume (30100) EFO_0004584 3.48e-112 3.48 -112 0.689 0.634 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 900.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PTPRJ Mean platelet thrombocyte volume (30100) EFO_0004584 7.23e-25 7.23 -25 -0.395 -0.488 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 317.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MOB3C Mean platelet thrombocyte volume (30100) EFO_0004584 8.67e-19 8.67 -19 -0.201 -0.258 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 862.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SVEP1 Mean platelet thrombocyte volume (30100) EFO_0004584 7.21e-14 7.21 -14 -0.263 -0.356 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 312.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CALR Mean platelet thrombocyte volume (30100) EFO_0004584 1.21e-14 1.21 -14 -0.576 -0.772 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 71.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON KALRN Mean platelet thrombocyte volume (30100) EFO_0004584 3.27e-20 3.27 -20 -0.051 -0.064 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 15509.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GOT1 Aspartate aminotransferase (30650) EFO_0004736 4.3e-22 4.3 -22 -1.033 -1.295 EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 47.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON GOT1 Aspartate aminotransferase (30650) EFO_0004736 9.1e-76 9.1 -76 -1.724 -1.929 EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 77.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GCK T2D New Strict CC (RGC) MONDO_0005148 3.95e-25 3.95 -25 6.493 9.251 EUR HANCESTRO_0005 UK Biobank 450k GCST90081517 352271 11970 58.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GOT1 Aspartate aminotransferase (30650) EFO_0004736 1.6999999999999999e-233 1.7 -233 -1.111 -1.182 EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 644.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK T2D New Strict CC (RGC) MONDO_0005148 1.91e-11 1.91 -11 14.254 30.965 EUR HANCESTRO_0005 UK Biobank 450k GCST90081517 352271 11970 15.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON LDLR ICD10 I25.1: Atherosclerotic heart disease of native coronary artery EFO_0001645 4.06e-12 4.06 -12 7.302 12.808 EUR HANCESTRO_0005 UK Biobank 450k GCST90079978 387911 23129 25.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PIEZO1 Whole body water mass (23102) EFO_0009805 3.37e-15 3.37 -15 -0.022 -0.029 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 24592.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PAPPA2 Whole body water mass (23102) EFO_0009805 2.18e-14 2.18 -14 -0.072 -0.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 2008.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGF1R Whole body water mass (23102) EFO_0009805 3.73e-22 3.73 -22 -0.138 -0.173 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 995.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Whole body water mass (23102) EFO_0009805 1.07e-15 1.07 -15 0.45 0.362 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 157.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ABCB4 ICD10 K80: Cholelithiasis EFO_0004799 1.05e-16 1.05 -16 2.1 2.502 EUR HANCESTRO_0005 UK Biobank 450k GCST90080297 385441 17665 207.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASXL1 ICD10 F17.1: Mental and behavioural disorders due to use of tobacco, harmful use (F17.1) EFO_0000677 2.23e-15 2.23 -15 2.505 3.144 EUR HANCESTRO_0005 UK Biobank 450k GCST90079794 387930 14902 106.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Whole body water mass (23102) EFO_0009805 2.66e-12 2.66 -12 0.38 0.297 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 177.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ASXL1 ICD10 F17.1: Mental and behavioural disorders due to use of tobacco, harmful use (F17.1) EFO_0000677 2.23e-15 2.23 -15 2.505 3.144 EUR HANCESTRO_0005 UK Biobank 450k GCST90079794 387930 14902 106.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPSB3 Whole body water mass (23102) EFO_0009805 1.27e-16 1.27 -16 -0.044 -0.058 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 6513.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GHRH Whole body water mass (23102) EFO_0009805 1.97e-13 1.97 -13 -0.254 -0.347 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 143.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Whole body water mass (23102) EFO_0009805 6.85e-23 6.85 -23 -0.087 -0.109 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 2643.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Whole body water mass (23102) EFO_0009805 6.32e-15 6.32 -15 0.378 0.302 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 213.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GHRH Whole body water mass (23102) EFO_0009805 1.97e-13 1.97 -13 -0.254 -0.347 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 143.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC2A9 Urate (30880) EFO_0004531 1.7999999999999998e-138 1.8 -138 -0.63 -0.683 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 887.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 Urate (30880) EFO_0004531 4.91e-12 4.91 -12 0.59 0.46 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 138.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON SLC22A12 Urate (30880) EFO_0004531 2.2300000000000002e-307 2.23 -307 -1.17 -1.224 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 834.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON COL4A4 Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 2.89e-20 2.89 -20 0.947 0.781 EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 128.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LRP2 Urate (30880) EFO_0004531 3.22e-13 3.22 -13 0.441 0.347 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 270.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GCK TAG ProbableT2D (RGC) MONDO_0005148 7.56e-25 7.56 -25 9.732 15.009 EUR HANCESTRO_0005 UK Biobank 450k GCST90081526 426342 17719 45.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC22A12 Urate (30880) EFO_0004531 7.5e-17 7.5 -17 -0.811 -1.06 EAS HANCESTRO_0009 UK Biobank 450k 2106 2106 37.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CUBN Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 7.650000000000001e-21 7.65 -21 0.299 0.247 EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 1334.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CLDN10 Urea (30670) EFO_0009795 1.69e-17 1.69 -17 0.399 0.324 EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 582.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TSHR Non cancer illness code self reported - hypothyroidism myxoedema/ICD10 E03 EFO_0004705 2.52e-13 2.52 -13 3.018 4.057 EUR HANCESTRO_0005 UK Biobank 450k GCST90077731 329052 18362 71.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Sitting height (20015) EFO_0011011 5.31e-18 5.31 -18 0.555 0.452 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 161.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON STC2 Sitting height (20015) EFO_0011011 3.24e-28 3.24 -28 0.171 0.145 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 2532.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Sitting height (20015) EFO_0011011 1.57e-16 1.57 -16 0.503 0.406 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 181.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ZFAT Sitting height (20015) EFO_0011011 7.39e-13 7.39 -13 0.461 0.362 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 172.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PDE3B Sitting height (20015) EFO_0011011 1.71e-16 1.71 -16 0.194 0.157 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1214.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SPSB3 Sitting height (20015) EFO_0011011 2.79e-30 2.79 -30 -0.077 -0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 6612.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PLCD1 Sitting height (20015) EFO_0011011 4.43e-13 4.43 -13 -0.045 -0.061 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 6847.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Leg predicted mass left (23118) EFO_0004302 2.44e-12 2.44 -12 0.418 0.327 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 157.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGF1R Sitting height (20015) EFO_0011011 3.42e-22 3.42 -22 -0.162 -0.203 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1007.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Leg predicted mass left (23118) EFO_0004302 3.8e-19 3.8 -19 -0.3 -0.384 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 185.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON DKK1 Sitting height (20015) EFO_0011011 9.68e-12 9.68 -12 -0.057 -0.08 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 3140.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Sitting height (20015) EFO_0011011 6.550000000000001e-21 6.55 -21 -0.074 -0.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 4492.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Sitting height (20015) EFO_0011011 8.8e-48 8.8 -48 -1.041 -1.203 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 64.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PIEZO1 Sitting height (20015) EFO_0011011 2.02e-11 2.02 -11 -0.081 -0.114 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1517.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Leg predicted mass left (23118) EFO_0004302 1.5e-12 1.5 -12 0.449 0.352 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 138.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON COL1A1 Sitting height (20015) EFO_0011011 3.21e-13 3.21 -13 -0.644 -0.881 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 30.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON LCORL Sitting height (20015) EFO_0011011 7.53e-19 7.53 -19 0.603 0.494 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 142.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON NRK Sitting height (20015) EFO_0011011 1.37e-11 1.37 -11 0.382 0.296 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 148.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Leg predicted mass left (23118) EFO_0004302 1.38e-31 1.38 -31 0.23 0.197 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH2 ICD10 Z08: Encounter for follow-up examination after completed treatment for malignant neoplasm EFO_0004542 9.44e-12 9.44 -12 6.264 10.617 EUR HANCESTRO_0005 UK Biobank 450k GCST90081200 387917 6079 24.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 2.0999999999999999e-41 2.1 -41 3.389 4.048 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 192.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PALB2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 8.91e-16 8.91 -16 2.174 2.627 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 147.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 1.11e-13 1.11 -13 17.214 36.478 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 16.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON BRCA1 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 4.19e-44 4.19 -44 9.387 12.864 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 81.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean corpuscular volume (30040) EFO_0004526 6.05e-108 6.05 -108 -2.018 -2.215 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Arm fat free mass left (23125) EFO_0004995 3.57e-24 3.57 -24 0.175 0.146 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 1594.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGFALS Arm fat free mass left (23125) EFO_0004995 1.82e-12 1.82 -12 -0.066 -0.092 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 1957.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Arm fat free mass left (23125) EFO_0004995 1.07e-16 1.07 -16 -0.048 -0.063 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 5843.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean corpuscular volume (30040) EFO_0004526 1.69e-37 1.69 -37 -2.189 -2.585 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 19.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON CCNF Mean corpuscular volume (30040) EFO_0004526 3.65e-13 3.65 -13 0.276 0.217 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 871.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON RTEL1 Mean corpuscular volume (30040) EFO_0004526 5e-18 5.0 -18 0.507 0.414 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 339.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON E2F4 Mean corpuscular volume (30040) EFO_0004526 4.66e-24 4.66 -24 2.174 1.821 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 24.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CHTF18 Mean corpuscular volume (30040) EFO_0004526 8.24e-16 8.24 -16 0.338 0.272 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 682.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON STC2 Arm fat free mass left (23125) EFO_0004995 3.42e-19 3.42 -19 0.126 0.104 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 2488.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RTEL1 Mean corpuscular volume (30040) EFO_0004526 1.2e-20 1.2 -20 0.237 0.196 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1760.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TMPRSS6 Mean corpuscular volume (30040) EFO_0004526 1.96e-38 1.96 -38 -0.513 -0.604 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 361.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CHTF18 Mean corpuscular volume (30040) EFO_0004526 4.33e-17 4.33 -17 0.295 0.24 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 959.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HSPA9 Mean corpuscular volume (30040) EFO_0004526 1.11e-20 1.11 -20 -0.425 -0.539 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 232.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON KLF1 Mean corpuscular volume (30040) EFO_0004526 4.19e-26 4.19 -26 -0.765 -0.939 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 99.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Arm fat free mass left (23125) EFO_0004995 2e-12 2.0 -12 0.413 0.323 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 157.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TFRC Mean corpuscular volume (30040) EFO_0004526 5.11e-50 5.11 -50 -1.223 -1.408 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 87.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON RTEL1 Mean corpuscular volume (30040) EFO_0004526 5e-18 5.0 -18 0.507 0.414 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 339.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON WNT1 Non cancer illness code self reported - osteoporosis EFO_0003882 8.19e-12 8.19 -12 5.247 8.44 EUR HANCESTRO_0005 UK Biobank 450k GCST90077779 331754 7730 30.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOB LipidLowering Med (RGC) EFO_0007010 1.41e-21 1.41 -21 0.267 0.35 EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 45.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON COL1A1 Non cancer illness code self reported - bone disorder EFO_0004260 8.53e-17 8.53 -17 75.426 208.746 EUR HANCESTRO_0005 UK Biobank 450k GCST90077769 331754 988 12.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Pulse rate (4194) EFO_0004326 8.489999999999999e-23 8.49 -23 0.354 0.295 EUR HANCESTRO_0005 UK Biobank 450k GCST90079160 173103 173103 1053.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON COL1A1 Non cancer illness code self reported - bone disorder EFO_0004260 8.53e-17 8.53 -17 75.426 208.746 EUR HANCESTRO_0005 UK Biobank 450k GCST90077769 331754 988 12.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 LipidLowering Med (RGC) EFO_0007010 2.14e-16 2.14 -16 0.317 0.417 EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 47.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASXL1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.24e-26 2.24 -26 0.187 0.158 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3860.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 3.2200000000000005e-64 3.22 -64 2.067 1.853 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IL17RA Monocyte count (30130) EFO_0005091 1.76e-17 1.76 -17 -0.454 -0.589 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 166.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON JAK2 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.88e-39 6.88 -39 0.297 0.258 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 2165.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CALR Red blood cell erythrocyte distribution width (30070) EFO_0009188 4.63e-18 4.63 -18 1.165 0.95 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 71.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CXCR4 Monocyte count (30130) EFO_0005091 4.2e-15 4.2 -15 0.474 0.379 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 345.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CAD Red blood cell erythrocyte distribution width (30070) EFO_0009188 3.98e-20 3.98 -20 0.799 0.658 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 166.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON CALR Red blood cell erythrocyte distribution width (30070) EFO_0009188 4.63e-18 4.63 -18 1.165 0.95 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 71.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ARHGAP25 Monocyte count (30130) EFO_0005091 2.43e-20 2.43 -20 0.123 0.102 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 6671.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 9.24e-12 9.24 -12 2.563 1.99 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 10.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON EPB41 Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.47e-15 5.47 -15 0.83 0.663 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 119.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON FLT3 Monocyte count (30130) EFO_0005091 2.63e-24 2.63 -24 0.381 0.319 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 814.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PDE3B Apolipoprotein B (30640) EFO_0004615 2.02e-14 2.02 -14 -0.117 -0.157 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 1993.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Apolipoprotein B (30640) EFO_0004615 1.3700000000000001e-32 1.37 -32 0.686 0.589 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 368.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GIGYF1 Apolipoprotein B (30640) EFO_0004615 2.94e-14 2.94 -14 -0.417 -0.562 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 152.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC4A1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.26e-18 6.26 -18 1.565 1.275 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 39.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON IL17RA Monocyte count (30130) EFO_0005091 1.11e-11 1.11 -11 -0.193 -0.272 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 498.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANKRD12 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.96e-13 6.96 -13 0.477 0.375 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 312.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB Apolipoprotein B (30640) EFO_0004615 1.9700000000000002e-33 1.97 -33 -0.593 -0.708 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 245.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON APEH Red blood cell erythrocyte distribution width (30070) EFO_0009188 4.2e-20 4.2 -20 -0.243 -0.309 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 754.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TFRC Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.75e-20 1.75 -20 1.19 0.983 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 76.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON APOC3 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.21e-53 1.21 -53 0.342 0.304 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 2205.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.11e-11 1.11 -11 2.39 1.855 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON A1CF Apolipoprotein B (30640) EFO_0004615 3.63e-13 3.63 -13 0.085 0.067 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 9907.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CAD Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.56e-22 5.56 -22 0.739 0.614 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 210.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 3.2200000000000005e-64 3.22 -64 2.067 1.853 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TMPRSS6 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.95e-45 2.95 -45 0.349 0.306 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1822.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PCSK9 Apolipoprotein B (30640) EFO_0004615 1.82e-19 1.82 -19 -0.776 -0.991 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 70.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON PCSK9 Apolipoprotein B (30640) EFO_0004615 2.22e-40 2.22 -40 -0.929 -1.089 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 126.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PCSK9 Apolipoprotein B (30640) EFO_0004615 4.45e-34 4.45 -34 -0.68 -0.811 AFR HANCESTRO_0010 UK Biobank 450k 8474 8474 216.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.75e-114 1.75 -114 2.307 2.124 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 98.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON FLG Age hay fever rhinitis or eczema diagnosed (3761) EFO_0003956 6.22e-20 6.22 -20 -0.176 -0.224 EUR HANCESTRO_0005 UK Biobank 450k GCST90079072 88602 88602 1529.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CALR Haemoglobin concentration (30020) EFO_0004509 2.6e-16 2.6 -16 -0.553 -0.727 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 71.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Haemoglobin concentration (30020) EFO_0004509 5.62e-65 5.62 -65 -1.298 -1.467 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CCR3 Eosinophil count (30150) EFO_0004842 9.32e-14 9.32 -14 0.236 0.187 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 1350.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Haemoglobin concentration (30020) EFO_0004509 1.27e-133 1.27 -133 -1.712 -1.86 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 98.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOC3 Eosinophil count (30150) EFO_0004842 4.39e-13 4.39 -13 0.181 0.143 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 2201.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ACO1 Haemoglobin concentration (30020) EFO_0004509 4.09e-24 4.09 -24 0.451 0.378 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 403.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Haemoglobin concentration (30020) EFO_0004509 5.62e-65 5.62 -65 -1.298 -1.467 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ALOX15 Eosinophil count (30150) EFO_0004842 9.25e-15 9.25 -15 -0.051 -0.068 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 11222.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Haemoglobin concentration (30020) EFO_0004509 1.92e-13 1.92 -13 -1.022 -1.394 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 21.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LPA Lipoprotein A (30790) EFO_0006925 9.93e-23 9.93 -23 -0.285 -0.357 EUR HANCESTRO_0005 UK Biobank 450k GCST90079034 329317 329317 748.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACO1 Haemoglobin concentration (30020) EFO_0004509 4.09e-24 4.09 -24 0.451 0.378 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 403.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CALR Haemoglobin concentration (30020) EFO_0004509 2.6e-16 2.6 -16 -0.553 -0.727 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 71.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Haemoglobin concentration (30020) EFO_0004509 7.89e-12 7.89 -12 -0.945 -1.325 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Haemoglobin concentration (30020) EFO_0004509 9.84e-13 9.84 -13 -0.092 -0.126 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1794.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Haemoglobin concentration (30020) EFO_0004509 9.84e-13 9.84 -13 -0.092 -0.126 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1794.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 Haemoglobin concentration (30020) EFO_0004509 4.27e-13 4.27 -13 -0.094 -0.129 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1779.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Haemoglobin concentration (30020) EFO_0004509 6.04e-29 6.04 -29 -1.579 -1.915 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 19.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ALOX15 Eosinophil count (30150) EFO_0004842 7.41e-15 7.41 -15 -0.116 -0.155 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 2138.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CSF2RB Eosinophil count (30150) EFO_0004842 2.98e-35 2.98 -35 -0.381 -0.452 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 642.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CALR Haemoglobin concentration (30020) EFO_0004509 2.6e-16 2.6 -16 -0.553 -0.727 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 71.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SF3B1 Haemoglobin concentration (30020) EFO_0004509 1.64e-11 1.64 -11 -0.18 -0.254 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 394.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON OR51V1 Haemoglobin concentration (30020) EFO_0004509 1.31e-13 1.31 -13 -0.565 -0.768 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 75.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BAK1 Platelet crit (30090) EFO_0007985 2.98e-19 2.98 -19 0.326 0.268 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 863.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LY75 Platelet crit (30090) EFO_0007985 1.14e-32 1.14 -32 0.214 0.184 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 3340.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FLG Atopy CC (RGC) EFO_0002686 6.21e-16 6.21 -16 1.244 1.312 EUR HANCESTRO_0005 UK Biobank 450k GCST90081463 359926 46691 1790.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON DNMT3A Platelet crit (30090) EFO_0007985 2.71e-13 2.71 -13 0.115 0.09 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 5081.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON DNMT3A Platelet crit (30090) EFO_0007985 4.77e-12 4.77 -12 0.113 0.088 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 4778.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON JAK2 Platelet crit (30090) EFO_0007985 1.0500000000000001e-29 1.05 -29 0.966 0.823 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 146.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON JAK2 Platelet crit (30090) EFO_0007985 4.48e-162 4.48 -162 0.548 0.511 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 2164.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TUBB1 Platelet crit (30090) EFO_0007985 1.37e-59 1.37 -59 -0.236 -0.269 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 2825.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON JAK2 Platelet crit (30090) EFO_0007985 4.07e-39 4.07 -39 0.355 0.309 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 1387.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON JAK2 Platelet crit (30090) EFO_0007985 1.4700000000000002e-27 1.47 -27 0.895 0.758 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 159.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GP1BB Platelet crit (30090) EFO_0007985 1.46e-15 1.46 -15 -0.728 -0.965 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 52.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TNFRSF13B Platelet crit (30090) EFO_0007985 6.61e-16 6.61 -16 -0.146 -0.193 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 1343.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 ICD10 I12.0: Hypertensive chronic kidney disease with stage 5 chronic kidney disease or end stage renal disease MONDO_0024633 1.62e-26 1.62 -26 33.786 64.55 EUR HANCESTRO_0005 UK Biobank 450k GCST90079963 387930 1504 23.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PKD1 ICD10 I12.0: Hypertensive chronic kidney disease with stage 5 chronic kidney disease or end stage renal disease MONDO_0024633 5.82e-19 5.82 -19 6.756 10.292 EUR HANCESTRO_0005 UK Biobank 450k GCST90079963 387930 1504 38.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MEPE Speed of sound through heel left (4103) EFO_0005654 1.05e-21 1.05 -21 -0.249 -0.313 EUR HANCESTRO_0005 UK Biobank 450k GCST90079150 166283 166283 747.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON WNT1 Speed of sound through heel left (4103) EFO_0005654 1.39e-12 1.39 -12 -0.355 -0.49 EUR HANCESTRO_0005 UK Biobank 450k GCST90079150 166283 166283 167.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Trunk fat mass (23128) EFO_0005409 1.75e-19 1.75 -19 0.297 0.244 EUR HANCESTRO_0005 UK Biobank 450k GCST90078931 423433 423433 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PDE3B Trunk fat mass (23128) EFO_0005409 1.58e-11 1.58 -11 0.18 0.139 EUR HANCESTRO_0005 UK Biobank 450k GCST90078931 423433 423433 2066.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Trunk fat mass (23128) EFO_0005409 1.16e-11 1.16 -11 0.583 0.452 EUR HANCESTRO_0005 UK Biobank 450k GCST90078931 423433 423433 197.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR ICD10 I25: Chronic ischemic heart disease EFO_0003777 9.14e-13 9.14 -13 3.379 4.719 EUR HANCESTRO_0005 UK Biobank 450k GCST90079982 387110 32706 61.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HNF1A Non cancer illness code self reported - diabetes EFO_0000400 5.58e-13 5.58 -13 7.814 13.664 EUR HANCESTRO_0005 UK Biobank 450k GCST90077722 331754 17927 25.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GCK Non cancer illness code self reported - diabetes EFO_0000400 2.27e-12 2.27 -12 16.455 35.976 EUR HANCESTRO_0005 UK Biobank 450k GCST90077722 331754 17927 16.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GCK Non cancer illness code self reported - diabetes EFO_0000400 2.5e-17 2.5 -17 7.661 12.273 EUR HANCESTRO_0005 UK Biobank 450k GCST90077722 331754 17927 36.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GCK ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 8.35e-17 8.35 -17 18.071 35.716 EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 24.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GCK ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 1.09e-33 1.09 -33 6.27 8.442 EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 89.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GCK ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 4.52e-24 4.52 -24 23.55 43.422 EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 32.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Comparative height size at age 10 - Shorter (1697) EFO_0004339 4.05e-15 4.05 -15 13.459 25.75 EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 32.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON CYB561D2 Reticulocyte count (30250) EFO_0007986 1.14e-11 1.14 -11 0.137 0.106 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 3539.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SPTA1 Reticulocyte count (30250) EFO_0007986 5.49e-50 5.49 -50 0.823 0.727 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 365.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CA1 Reticulocyte count (30250) EFO_0007986 5.46e-13 5.46 -13 0.354 0.278 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 582.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IQGAP2 Reticulocyte count (30250) EFO_0007986 1.75e-12 1.75 -12 0.129 0.101 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 4246.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC4A1 Reticulocyte count (30250) EFO_0007986 4.82e-26 4.82 -26 2.328 1.963 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 25.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON RHAG Reticulocyte count (30250) EFO_0007986 4.44e-47 4.44 -47 0.717 0.631 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 451.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Reticulocyte count (30250) EFO_0007986 7.53e-13 7.53 -13 0.872 0.685 SAS HANCESTRO_0006 UK Biobank 450k 9692 9692 99.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC4A1 Reticulocyte count (30250) EFO_0007986 5.81e-25 5.81 -25 1.269 1.066 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 81.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SPTA1 Reticulocyte count (30250) EFO_0007986 6.46e-13 6.46 -13 0.927 0.729 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 85.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON HBB Reticulocyte count (30250) EFO_0007986 7.53e-13 7.53 -13 0.872 0.685 SAS HANCESTRO_0006 UK Biobank 450k 9692 9692 99.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Reticulocyte count (30250) EFO_0007986 5.870000000000001e-26 5.87 -26 1.186 1.0 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 96.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Reticulocyte count (30250) EFO_0007986 5.870000000000001e-26 5.87 -26 1.186 1.0 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 96.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Body mass index BMI (21001) EFO_0004340 1.78e-26 1.78 -26 0.335 0.283 EUR HANCESTRO_0005 UK Biobank 450k GCST90078684 429633 429633 1222.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Arm fat percentage right (23119) EFO_0007800 1.1e-21 1.1 -21 0.237 0.196 EUR HANCESTRO_0005 UK Biobank 450k GCST90078922 423608 423608 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON JAK2 Neutrophil percentage (30200) EFO_0007990 7.91e-12 7.91 -12 0.179 0.139 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 2163.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON JAK2 Neutrophil percentage (30200) EFO_0007990 7.91e-12 7.91 -12 0.179 0.139 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 2163.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CXCR2 Neutrophil percentage (30200) EFO_0007990 2.3e-12 2.3 -12 -0.262 -0.363 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 335.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 Pack years of smoking (20161) EFO_0005671 7.96e-17 7.96 -17 0.392 0.318 EUR HANCESTRO_0005 UK Biobank 450k GCST90078325 134156 134156 627.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 ICD10 N18: Chronic kidney disease (CKD) EFO_0003884 9.920000000000001e-43 9.92 -43 13.222 19.129 EUR HANCESTRO_0005 UK Biobank 450k GCST90080584 382843 10144 63.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CXCR2 Neutrophil count (30140) EFO_0004833 8.96e-12 8.96 -12 -0.388 -0.545 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 139.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 Neutrophil count (30140) EFO_0004833 1.44e-18 1.44 -18 -0.152 -0.196 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 1791.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 ICD10 N18: Chronic kidney disease (CKD) EFO_0003884 2.5800000000000002e-47 2.58 -47 17.082 25.104 EUR HANCESTRO_0005 UK Biobank 450k GCST90080584 382843 10144 62.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GNB1 Neutrophil count (30140) EFO_0004833 2.95e-14 2.95 -14 0.517 0.411 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 304.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NF1 Neutrophil count (30140) EFO_0004833 1.16e-12 1.16 -12 0.483 0.378 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 314.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON WNT1 Heel quantitative ultrasound index QUI direct entry left (4104) EFO_0004514 4.6e-13 4.6 -13 -0.361 -0.495 EUR HANCESTRO_0005 UK Biobank 450k GCST90079151 166283 166283 167.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Comparative body size at age 10 - Plumper (1687) EFO_0009819 3.18e-61 3.18 -61 3.367 3.889 EUR HANCESTRO_0005 UK Biobank 450k GCST90077589 423612 68629 359.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Comparative body size at age 10 - Plumper (1687) EFO_0009819 2.3800000000000002e-32 2.38 -32 6.071 8.183 EUR HANCESTRO_0005 UK Biobank 450k GCST90077589 423612 68629 104.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON FLG AllergicDiseaseCases vs AllergicDiseaseControls (RGC) MONDO_0005271 8.5e-23 8.5 -23 1.256 1.314 EUR HANCESTRO_0005 UK Biobank 450k GCST90081451 354024 73382 2766.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON THBS4 6mm weak meridian right (5098) EFO_0004731 1.4200000000000002e-21 1.42 -21 -0.248 -0.312 EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 755.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON THBS4 6mm weak meridian right (5098) EFO_0004731 4.82e-12 4.82 -12 -0.123 -0.171 EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 1318.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MEN1 ICD10 E21.0: Primary hyperparathyroidism EFO_0008519 1.1e-14 1.1 -14 434.988 2031.21 EUR HANCESTRO_0005 UK Biobank 450k GCST90079751 387930 643 6.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MEN1 ICD10 E21.0: Primary hyperparathyroidism EFO_0008519 3.63e-13 3.63 -13 667.517 3855.23 EUR HANCESTRO_0005 UK Biobank 450k GCST90079751 387930 643 5.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON HNF1A T2D (RGC) MONDO_0005148 2.63e-13 2.63 -13 6.102 9.909 EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 33.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GCK T2D (RGC) MONDO_0005148 1.02e-26 1.02 -26 26.578 48.468 EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 35.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK T2D (RGC) MONDO_0005148 1.02e-26 1.02 -26 26.578 48.468 EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 35.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GCK Non cancer illness code self reported - type 2 diabetes/ICD10 E11 MONDO_0005148 5.65e-15 5.65 -15 16.597 33.585 EUR HANCESTRO_0005 UK Biobank 450k GCST90077725 329052 3203 17.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GCK Non cancer illness code self reported - type 2 diabetes/ICD10 E11 MONDO_0005148 8.91e-14 8.91 -14 8.305 14.488 EUR HANCESTRO_0005 UK Biobank 450k GCST90077725 329052 3203 23.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NPR3 Comparative height size at age 10 - Taller (1697) EFO_0004339 8.34e-15 8.34 -15 1.29 1.375 EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 1532.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS17 Comparative height size at age 10 - Taller (1697) EFO_0004339 7.85e-22 7.85 -22 0.681 0.736 EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 784.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC4A1 Mean sphered cell volume (30270) EFO_0004526 4.46e-21 4.46 -21 -0.357 -0.451 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 359.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PTPRH Mean sphered cell volume (30270) EFO_0004526 3.66e-12 3.66 -12 0.134 0.104 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 3681.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 6.48e-86 6.48 -86 -1.865 -2.071 SAS HANCESTRO_0006 UK Biobank 450k 9690 9690 99.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TNFRSF13B Mean sphered cell volume (30270) EFO_0004526 3.19e-18 3.19 -18 -0.073 -0.095 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 7042.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SPTB Mean sphered cell volume (30270) EFO_0004526 3.0699999999999998e-24 3.07 -24 -0.842 -1.043 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 78.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON CAD Mean sphered cell volume (30270) EFO_0004526 5.33e-40 5.33 -40 0.428 0.373 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 1044.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON RTEL1 Mean sphered cell volume (30270) EFO_0004526 9.78e-21 9.78 -21 0.266 0.22 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 1491.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CAD Mean sphered cell volume (30270) EFO_0004526 5.43e-24 5.43 -24 0.622 0.521 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 311.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON KLF1 Mean sphered cell volume (30270) EFO_0004526 9.05e-29 9.05 -29 -0.45 -0.547 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 343.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 6.48e-86 6.48 -86 -1.865 -2.071 SAS HANCESTRO_0006 UK Biobank 450k 9690 9690 99.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANK1 Mean sphered cell volume (30270) EFO_0004526 4.51e-20 4.51 -20 -0.086 -0.11 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 5886.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON POLE Mean sphered cell volume (30270) EFO_0004526 4.97e-29 4.97 -29 0.196 0.167 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 3739.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CAD Mean sphered cell volume (30270) EFO_0004526 1.48e-45 1.48 -45 1.016 0.893 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 208.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SPTA1 Mean sphered cell volume (30270) EFO_0004526 7.41e-34 7.41 -34 -0.488 -0.581 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 365.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 3.15e-127 3.15 -127 -2.044 -2.226 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 96.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 3.15e-127 3.15 -127 -2.044 -2.226 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 96.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 2.01e-16 2.01 -16 -1.891 -2.482 AFR HANCESTRO_0010 UK Biobank 450k 8409 8409 13.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON EPB42 Mean sphered cell volume (30270) EFO_0004526 1.93e-12 1.93 -12 -0.187 -0.259 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 606.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CHTF18 Mean sphered cell volume (30270) EFO_0004526 2.11e-13 2.11 -13 0.326 0.257 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 673.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 1.25e-11 1.25 -11 -1.231 -1.732 EAS HANCESTRO_0009 UK Biobank 450k 2106 2106 16.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SPIRE2 Hair colour natural before greying - Red (1747) EFO_0007822 1.4199999999999999e-74 1.42 -74 0.294 0.335 EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 143.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GAS8 Hair colour natural before greying - Red (1747) EFO_0007822 2.26e-38 2.26 -38 1.833 2.009 EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 599.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TYR Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 1.35e-11 1.35 -11 0.693 0.77 EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 501.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON OCA2 Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 5.06e-14 5.06 -14 0.358 0.468 EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 57.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON OCA2 Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 5.06e-14 5.06 -14 0.358 0.468 EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 57.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON NOTCH1 Type of Cancer: Chronic lymphocytic leukemia of B-cell type (40006) EFO_0000095 6.270000000000001e-27 6.27 -27 480.545 1482.21 EUR HANCESTRO_0005 UK Biobank 450k GCST90079124 74230 571 14.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TTN ICD10 I48: Atrial fibrillation and flutter EFO_0000275 2.8000000000000003e-23 2.8 -23 3.172 3.984 EUR HANCESTRO_0005 UK Biobank 450k GCST90080015 386856 20107 121.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON TTN ICD10 I48: Atrial fibrillation and flutter EFO_0000275 3.95e-25 3.95 -25 1.771 1.974 EUR HANCESTRO_0005 UK Biobank 450k GCST90080015 386856 20107 452.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CHD2 Lymphocyte percentage (30180) EFO_0007993 6.05e-12 6.05 -12 0.929 0.723 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 78.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON JAK2 Lymphocyte percentage (30180) EFO_0007993 7.42e-16 7.42 -16 -0.122 -0.161 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 2163.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON OCA2 Ease of skin tanning - Get mildly or occasionally tanned (1727) EFO_0007009 3.8e-25 3.8 -25 1.514 1.638 EUR HANCESTRO_0005 UK Biobank 450k GCST90077604 422570 93163 983.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RASA2 Lymphocyte percentage (30180) EFO_0007993 1.15e-16 1.15 -16 -0.189 -0.248 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 970.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NOTCH1 Lymphocyte percentage (30180) EFO_0007993 4.6800000000000005e-27 4.68 -27 1.725 1.46 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 47.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MYD88 Lymphocyte percentage (30180) EFO_0007993 1.6e-36 1.6 -36 1.158 1.003 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 137.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MYD88 Lymphocyte percentage (30180) EFO_0007993 1.7e-21 1.7 -21 0.566 0.469 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 356.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC45A2 Ease of skin tanning - Get mildly or occasionally tanned (1727) EFO_0007009 4.3899999999999995e-25 4.39 -25 1.533 1.663 EUR HANCESTRO_0005 UK Biobank 450k GCST90077604 422570 93163 938.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CXCL6 Lymphocyte percentage (30180) EFO_0007993 3.51e-13 3.51 -13 0.11 0.086 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 6166.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MPO Lymphocyte percentage (30180) EFO_0007993 4.74e-13 4.74 -13 -0.044 -0.06 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 12702.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CHD2 Lymphocyte percentage (30180) EFO_0007993 1.21e-13 1.21 -13 1.36 1.076 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 41.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON SLC4A1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 7.95e-18 7.95 -18 0.532 0.433 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 363.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.89e-13 3.89 -13 -1.456 -1.994 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 14.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 5.88e-12 5.88 -12 -1.281 -1.791 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SPTA1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.74e-16 2.74 -16 0.505 0.407 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 373.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANK1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 5.67e-13 5.67 -13 0.094 0.074 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 8979.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 5.88e-12 5.88 -12 -1.281 -1.791 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 1.86e-18 1.86 -18 2.316 2.794 EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 155.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Body fat percentage (23099) EFO_0007800 9.17e-15 9.17 -15 0.199 0.159 EUR HANCESTRO_0005 UK Biobank 450k GCST90078903 423464 423464 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Impedance of arm left (23110) HP_0000924 6.69e-15 6.69 -15 -0.125 -0.167 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON OBSCN Impedance of arm left (23110) HP_0000924 1.26e-14 1.26 -14 -0.052 -0.069 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 5454.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON FBN2 Impedance of arm left (23110) HP_0000924 4.14e-12 4.14 -12 0.17 0.132 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 1192.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ADAMTS17 Impedance of arm left (23110) HP_0000924 1.39e-16 1.39 -16 -0.065 -0.086 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 4065.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON AEBP1 Impedance of arm left (23110) HP_0000924 3.72e-12 3.72 -12 0.061 0.047 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 9494.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EML4 Impedance of arm left (23110) HP_0000924 5.47e-17 5.47 -17 -0.088 -0.114 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 2348.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Impedance of arm left (23110) HP_0000924 1.2800000000000001e-21 1.28 -21 0.1 0.083 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 5849.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SIX6 SphericalEquivalent 0 right (RGC) EFO_0004731 3.36e-17 3.36 -17 -0.166 -0.217 EUR HANCESTRO_0005 UK Biobank 450k GCST90081509 93958 93958 1330.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 5.28e-15 5.28 -15 3.308 4.465 EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 67.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON HMCN1 FEV1 FVC ratio Z score (20258) EFO_0004713 1.4399999999999997e-23 1.44 -23 0.245 0.205 EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 2171.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ATM ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 9.6e-15 9.6 -15 2.962 3.899 EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 77.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 2.1200000000000002e-29 2.12 -29 6.775 9.454 EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 67.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HMCN1 FEV1 FVC ratio Z score (20258) EFO_0004713 9.47e-47 9.47 -47 0.515 0.453 EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 909.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ENPP1 Phosphate (30810) EFO_0010968 1.8e-26 1.8 -26 -0.186 -0.228 EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 1925.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ALPL Phosphate (30810) EFO_0010968 3.3499999999999995e-61 3.35 -61 0.932 0.833 EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 345.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC34A3 Phosphate (30810) EFO_0010968 1.31e-25 1.31 -25 -0.273 -0.336 EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 850.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MYOC ICD10 H40.9: Unspecified glaucoma EFO_0000516 1.02e-14 1.02 -14 3.423 4.675 EUR HANCESTRO_0005 UK Biobank 450k GCST90079908 387930 3672 59.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FLG Non cancer illness code self reported - eczema dermatitis/ICD10 L30 EFO_0005319 1.04e-11 1.04 -11 1.611 1.848 EUR HANCESTRO_0005 UK Biobank 450k GCST90077854 329052 10233 252.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MROH2A Total bilirubin (30840) EFO_0004570 9.33e-13 9.33 -13 -0.084 -0.116 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 3279.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 C78.6: Secondary malignant neoplasm of retroperitoneum and peritoneum EFO_0009812 3.04e-12 3.04 -12 8.118 14.62 EUR HANCESTRO_0005 UK Biobank 450k GCST90079623 387930 1833 20.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON NR1I3 Total bilirubin (30840) EFO_0004570 5.83e-15 5.83 -15 0.241 0.193 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1017.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ABCC2 Total bilirubin (30840) EFO_0004570 5.07e-13 5.07 -13 0.073 0.058 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 9977.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A9 Total bilirubin (30840) EFO_0004570 6.58e-74 6.58 -74 0.578 0.522 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1041.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Total bilirubin (30840) EFO_0004570 1.69e-13 1.69 -13 0.718 0.567 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 105.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC4A1 Total bilirubin (30840) EFO_0004570 1.21e-20 1.21 -20 1.774 1.466 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 25.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON SLC4A1 Total bilirubin (30840) EFO_0004570 1.23e-14 1.23 -14 0.769 0.613 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 98.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON UGT1A1 Total bilirubin (30840) EFO_0004570 4.5900000000000003e-66 4.59 -66 0.512 0.46 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1198.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A9 Total bilirubin (30840) EFO_0004570 3.43e-66 3.43 -66 0.478 0.429 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1375.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPTA1 Total bilirubin (30840) EFO_0004570 1.2500000000000001e-21 1.25 -21 0.527 0.437 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 296.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON UGT1A10 Total bilirubin (30840) EFO_0004570 3.06e-90 3.06 -90 0.465 0.424 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1935.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A10 Total bilirubin (30840) EFO_0004570 4.83e-17 4.83 -17 0.543 0.44 SAS HANCESTRO_0006 UK Biobank 450k 9811 9811 354.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLCO1B1 Total bilirubin (30840) EFO_0004570 5.52e-40 5.52 -40 0.408 0.355 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 886.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ATP11C Total bilirubin (30840) EFO_0004570 5.79e-16 5.79 -16 0.798 0.643 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 68.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 C78.6: Secondary malignant neoplasm of retroperitoneum and peritoneum EFO_0009812 3.04e-12 3.04 -12 8.118 14.62 EUR HANCESTRO_0005 UK Biobank 450k GCST90079623 387930 1833 20.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON UGT1A9 Total bilirubin (30840) EFO_0004570 1.67e-15 1.67 -15 0.529 0.425 SAS HANCESTRO_0006 UK Biobank 450k 9811 9811 341.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A5 Total bilirubin (30840) EFO_0004570 2.7799999999999997e-52 2.78 -52 0.498 0.442 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1019.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NR1I3 Total bilirubin (30840) EFO_0004570 5.83e-15 5.83 -15 0.241 0.193 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1017.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A1 Total bilirubin (30840) EFO_0004570 1.2300000000000001e-36 1.23 -36 0.968 0.838 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 195.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADAMTS17 Forced expiratory volume in 1 second FEV1 Best measure (20150) EFO_0004314 4.6e-12 4.6 -12 -0.061 -0.086 EUR HANCESTRO_0005 UK Biobank 450k GCST90078316 322002 322002 3138.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GNB1 Basophil percentage (30220) EFO_0007992 1.14e-12 1.14 -12 0.514 0.403 EUR HANCESTRO_0005 UK Biobank 450k GCST90078999 418454 418454 304.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON DNMT3A Eosinophil percentage (30210) EFO_0007991 1.47e-16 1.47 -16 -0.083 -0.109 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 5068.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 Eosinophil percentage (30210) EFO_0007991 9.58e-13 9.58 -13 -0.142 -0.195 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 1165.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Basal metabolic rate (23105) EFO_0007777 1.59e-34 1.59 -34 0.154 0.133 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 3013.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Basal metabolic rate (23105) EFO_0007777 2.22e-14 2.22 -14 0.455 0.362 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 157.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Basal metabolic rate (23105) EFO_0007777 2.64e-18 2.64 -18 -0.061 -0.079 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 4404.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Basal metabolic rate (23105) EFO_0007777 2.1700000000000002e-29 2.17 -29 0.256 0.218 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Basal metabolic rate (23105) EFO_0007777 9.38e-18 9.38 -18 -0.077 -0.1 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 2643.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON IGF1R Basal metabolic rate (23105) EFO_0007777 2.49e-13 2.49 -13 -0.377 -0.515 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 71.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON IRS1 Basal metabolic rate (23105) EFO_0007777 1.41e-20 1.41 -20 -0.369 -0.468 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 140.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGF1R Basal metabolic rate (23105) EFO_0007777 1.93e-13 1.93 -13 -0.083 -0.113 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 1485.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Basal metabolic rate (23105) EFO_0007777 1.96e-15 1.96 -15 0.418 0.336 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 197.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PDE3B Basal metabolic rate (23105) EFO_0007777 1.82e-12 1.82 -12 0.118 0.092 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 2067.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MSH2 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 1.1e-15 1.1 -15 26.098 57.945 EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 16.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON BRCA1 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 1.29e-21 1.29 -21 2.849 3.532 EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 122.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 1.7300000000000001e-29 1.73 -29 4.808 6.317 EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 88.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR CAD (RGC) EFO_0001645 6.66e-21 6.66 -21 2.156 2.531 EUR HANCESTRO_0005 UK Biobank 450k GCST90081466 283203 28605 238.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON OCA2 Skin colour - Light olive (1717) EFO_0003784 3.66e-287 3.66 -287 0.306 0.326 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 784.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC1R Skin colour - Light olive (1717) EFO_0003784 1.37e-158 1.37 -158 0.301 0.329 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 423.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL8 Apolipoprotein A (30630) EFO_0004732 5.58e-13 5.58 -13 0.337 0.265 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 530.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NFKBIE ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 2.17e-15 2.17 -15 59.042 161.751 EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 10.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOA1 Apolipoprotein A (30630) EFO_0004732 1.22e-33 1.22 -33 -1.168 -1.394 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 54.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON THBS4 3mm strong meridian right (5132) EFO_0004731 2.09e-11 2.09 -11 -0.11 -0.155 EUR HANCESTRO_0005 UK Biobank 450k GCST90079298 103540 103540 1531.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCAT Apolipoprotein A (30630) EFO_0004732 3.1499999999999995e-23 3.15 -23 -0.904 -1.126 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 57.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOC3 Apolipoprotein A (30630) EFO_0004732 1.3800000000000001e-273 1.38 -273 0.723 0.685 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1921.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CETP Apolipoprotein A (30630) EFO_0004732 9.46e-51 9.46 -51 0.764 0.676 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 361.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON NOTCH1 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 1.1100000000000001e-32 1.11 -32 306.222 785.793 EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 17.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOC3 Apolipoprotein A (30630) EFO_0004732 1.62e-275 1.62 -275 0.724 0.686 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1928.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NR1H3 Apolipoprotein A (30630) EFO_0004732 2.53e-12 2.53 -12 0.18 0.14 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1790.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SH2B3 Apolipoprotein A (30630) EFO_0004732 5.78e-17 5.78 -17 -0.094 -0.123 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 3326.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LPL Apolipoprotein A (30630) EFO_0004732 6.16e-12 6.16 -12 -0.365 -0.511 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 130.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CETP Apolipoprotein A (30630) EFO_0004732 9.46e-51 9.46 -51 0.764 0.676 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 361.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 3mm strong meridian right (5132) EFO_0004731 1.46e-15 1.46 -15 0.445 0.357 EUR HANCESTRO_0005 UK Biobank 450k GCST90079298 103540 103540 404.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SMAD6 3mm strong meridian right (5132) EFO_0004731 8.790000000000001e-21 8.79 -21 0.66 0.546 EUR HANCESTRO_0005 UK Biobank 450k GCST90079298 103540 103540 237.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LDLR MI (RGC) EFO_0000612 1.85e-13 1.85 -13 2.104 2.565 EUR HANCESTRO_0005 UK Biobank 450k GCST90081495 422491 17896 140.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PAM Illnesses of father - Diabetes (20107) EFO_0000493 4.02e-12 4.02 -12 1.251 1.332 EUR HANCESTRO_0005 UK Biobank 450k GCST90078263 419598 36789 1183.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Treatment or Medication Code - rosuvastatin EFO_0007010 1.8299999999999999e-38 1.83 -38 6.732 8.981 EUR HANCESTRO_0005 UK Biobank 450k GCST90078225 320758 2905 83.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Treatment or Medication Code - rosuvastatin EFO_0007010 7.76e-21 7.76 -21 10.762 17.698 EUR HANCESTRO_0005 UK Biobank 450k GCST90078225 320758 2905 31.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GHRH IGF 1 (30770) EFO_0004627 6.51e-14 6.51 -14 -0.484 -0.656 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 104.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGFALS IGF 1 (30770) EFO_0004627 2.61e-21 2.61 -21 -0.656 -0.827 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 105.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GHRH IGF 1 (30770) EFO_0004627 1.52e-20 1.52 -20 -0.551 -0.698 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 141.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGFALS IGF 1 (30770) EFO_0004627 1.79e-47 1.79 -47 -0.618 -0.715 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 328.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TSHR ICD10 E03.9: Hypothyroidism, unspecified EFO_0004705 2.5299999999999997e-23 2.53 -23 2.428 2.891 EUR HANCESTRO_0005 UK Biobank 450k GCST90079721 385358 19694 187.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R IGF 1 (30770) EFO_0004627 7.11e-13 7.11 -13 0.216 0.169 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1432.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPSB3 IGF 1 (30770) EFO_0004627 7.26e-12 7.26 -12 -0.055 -0.077 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 6291.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON JAK2 IGF 1 (30770) EFO_0004627 3.5e-17 3.5 -17 -0.473 -0.616 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 149.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 6mm strong meridian right (5133) EFO_0004731 8.09e-14 8.09 -14 0.958 0.759 EUR HANCESTRO_0005 UK Biobank 450k GCST90079299 90887 90887 77.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON STAB1 IGF 1 (30770) EFO_0004627 7.5e-13 7.5 -13 -0.133 -0.183 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1234.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PAPPA2 IGF 1 (30770) EFO_0004627 1.48e-16 1.48 -16 0.563 0.455 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 265.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON STAB1 IGF 1 (30770) EFO_0004627 4.46e-12 4.46 -12 -0.076 -0.105 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 3471.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MIP Non cancer illness code self reported - cataract/ICD10 H26 MONDO_0005129 4.33e-14 4.33 -14 6.725 11.028 EUR HANCESTRO_0005 UK Biobank 450k GCST90077757 329052 7792 29.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TSHR Non cancer illness code self reported - hypothyroidism myxoedema EFO_0004705 1.04e-18 1.04 -18 3.398 4.457 EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 90.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON COL4A4 Microalbumin in urine (30500) EFO_0010967 7.46e-57 7.46 -57 0.815 0.726 EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 463.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN ICD10 I50.9: Heart failure, unspecified EFO_0003144 1.25e-11 1.25 -11 2.445 3.168 EUR HANCESTRO_0005 UK Biobank 450k GCST90080022 387930 2407 78.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ANKRD12 Education score England (26414) EFO_0011015 2.01e-13 2.01 -13 0.547 0.432 EUR HANCESTRO_0005 UK Biobank 450k GCST90078953 369491 369491 273.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Ankle spacing width (3143) EFO_0004324 3.65e-19 3.65 -19 0.212 0.174 EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 1690.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APC ICD10 Z83.7: Family history of diseases of the digestive system EFO_0000493 1.23e-11 1.23 -11 7.394 13.188 EUR HANCESTRO_0005 UK Biobank 450k GCST90081342 387433 947 20.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SMAD6 Ankle spacing width (3143) EFO_0004324 1.47e-26 1.47 -26 0.353 0.298 EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 815.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Ankle spacing width (3143) EFO_0004324 7.56e-14 7.56 -14 0.289 0.229 EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 677.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APC ICD10 Z83.7: Family history of diseases of the digestive system EFO_0000493 8.16e-20 8.16 -20 54.591 129.067 EUR HANCESTRO_0005 UK Biobank 450k GCST90081342 387433 947 14.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 Ankle spacing width (3143) EFO_0004324 1.0899999999999999e-23 1.09 -23 0.326 0.273 EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 862.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SMAD6 Ankle spacing width (3143) EFO_0004324 9.54e-25 9.54 -25 0.664 0.558 EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 215.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Whole body fat free mass (23101) EFO_0004995 7.020000000000001e-26 7.02 -26 0.203 0.171 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 1199.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Whole body fat free mass (23101) EFO_0004995 2.09e-14 2.09 -14 0.386 0.307 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 197.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IGFALS Whole body fat free mass (23101) EFO_0004995 3.18e-15 3.18 -15 -0.076 -0.101 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 1958.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Whole body fat free mass (23101) EFO_0004995 6.52e-17 6.52 -17 -0.048 -0.062 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 5845.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 C78: Secondary malignant neoplasm of respiratory and digestive organs EFO_0009812 5.21e-32 5.21 -32 4.63 5.975 EUR HANCESTRO_0005 UK Biobank 450k GCST90079625 387835 6526 97.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASXL1 Pack years adult smoking as proportion of life span exposed to smoking (20162) EFO_0005671 6.27e-16 6.27 -16 0.389 0.313 EUR HANCESTRO_0005 UK Biobank 450k GCST90078326 134156 134156 627.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 1.48e-18 1.48 -18 5.405 7.873 EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 45.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Leg fat free mass right (23113) EFO_0004995 1.88e-14 1.88 -14 -0.502 -0.674 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 44.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ZFAT Leg fat free mass right (23113) EFO_0004995 3.67e-28 3.67 -28 0.138 0.118 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 3012.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 9.800000000000001e-27 9.8 -27 10.72 16.551 EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 40.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MLH1 ICD10 Z08.0: Follow-up examination after surgery for malignant neoplasm (Z08.0) EFO_0004542 1.37e-23 1.37 -23 55.544 121.958 EUR HANCESTRO_0005 UK Biobank 450k GCST90081197 387930 4711 18.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MLH1 ICD10 Z08.0: Follow-up examination after surgery for malignant neoplasm (Z08.0) EFO_0004542 1.22e-15 1.22 -15 14.583 28.114 EUR HANCESTRO_0005 UK Biobank 450k GCST90081197 387930 4711 19.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 ICD10 F17: Nicotine dependence EFO_0003768 1.09e-22 1.09 -22 2.328 2.757 EUR HANCESTRO_0005 UK Biobank 450k GCST90079798 370495 32828 205.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MLH1 ICD10 Z08.0: Follow-up examination after surgery for malignant neoplasm (Z08.0) EFO_0004542 1.22e-15 1.22 -15 14.583 28.114 EUR HANCESTRO_0005 UK Biobank 450k GCST90081197 387930 4711 19.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH2 Illnesses of siblings - Bowel cancer (20111) EFO_0009640 1e-12 10.0 -13 10.348 19.671 EUR HANCESTRO_0005 UK Biobank 450k GCST90078291 371732 9037 19.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON COL1A1 Non cancer illness code self reported - bone disorder/ICD10 M85 EFO_0004260 1.2e-12 1.2 -12 67.485 215.665 EUR HANCESTRO_0005 UK Biobank 450k GCST90077770 329052 841 9.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Pulse rate automated reading (102) EFO_0004326 5.37e-34 5.37 -34 0.182 0.157 EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 5669.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IL33 Asthma Strict CC (RGC) MONDO_0004979 1.99e-11 1.99 -11 0.696 0.774 EUR HANCESTRO_0005 UK Biobank 450k GCST90081460 376289 39436 343.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON FLG Asthma Strict CC (RGC) MONDO_0004979 6.53e-13 6.53 -13 1.231 1.303 EUR HANCESTRO_0005 UK Biobank 450k GCST90081460 376289 39436 1513.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SPTA1 Mean reticulocyte volume (30260) EFO_0010701 8.79e-12 8.79 -12 -0.487 -0.683 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 85.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON HBB Mean reticulocyte volume (30260) EFO_0010701 9.289999999999999e-42 9.29 -42 -1.194 -1.396 SAS HANCESTRO_0006 UK Biobank 450k 9692 9692 99.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ATR Mean reticulocyte volume (30260) EFO_0010701 1.19e-18 1.19 -18 -0.103 -0.133 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 3706.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RHAG Mean reticulocyte volume (30260) EFO_0010701 6.120000000000001e-37 6.12 -37 -0.467 -0.552 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 451.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 ICD10 I12: Hypertensive chronic kidney disease MONDO_0024633 7.83e-28 7.83 -28 31.606 58.692 EUR HANCESTRO_0005 UK Biobank 450k GCST90079964 387912 1660 25.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SPTA1 Mean reticulocyte volume (30260) EFO_0010701 1.92e-35 1.92 -35 -0.558 -0.663 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 299.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 ICD10 C77: Secondary and unspecified malignant neoplasm of lymph nodes MONDO_0024339 4.920000000000001e-21 4.92 -21 2.651 3.248 EUR HANCESTRO_0005 UK Biobank 450k GCST90079620 387882 7019 130.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TYMP Mean reticulocyte volume (30260) EFO_0010701 1.14e-12 1.14 -12 -0.195 -0.269 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 586.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON RTEL1 Mean reticulocyte volume (30260) EFO_0010701 1.21e-13 1.21 -13 0.468 0.37 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 336.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOC3 Mean reticulocyte volume (30260) EFO_0010701 2.53e-12 2.53 -12 0.176 0.137 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 2185.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SPTA1 Mean reticulocyte volume (30260) EFO_0010701 1.09e-43 1.09 -43 -0.575 -0.669 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 365.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TYMP Mean reticulocyte volume (30260) EFO_0010701 3.55e-18 3.55 -18 -0.151 -0.196 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1659.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CHTF18 Mean reticulocyte volume (30260) EFO_0010701 2.78e-13 2.78 -13 0.275 0.217 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 949.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SPTA1 Mean reticulocyte volume (30260) EFO_0010701 8.79e-12 8.79 -12 -0.487 -0.683 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 85.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON OR10R2 Mean reticulocyte volume (30260) EFO_0010701 6.12e-12 6.12 -12 0.155 0.12 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 2792.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TRIM10 Mean reticulocyte volume (30260) EFO_0010701 1.27e-12 1.27 -12 0.404 0.316 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 429.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean reticulocyte volume (30260) EFO_0010701 4.76e-47 4.76 -47 -1.163 -1.346 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 96.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CASP7 ICD10 H26: Other cataract MONDO_0005129 1.05e-14 1.05 -14 1.714 1.965 EUR HANCESTRO_0005 UK Biobank 450k GCST90079893 384442 20291 275.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 Past tobacco smoking - I have never smoked (1249) EFO_0005671 5.47e-12 5.47 -12 0.616 0.707 EUR HANCESTRO_0005 UK Biobank 450k GCST90077586 397089 171084 273.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCA1 HDL cholesterol (30760) EFO_0004612 7.82e-58 7.82 -58 -0.689 -0.785 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 281.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON CETP HDL cholesterol (30760) EFO_0004612 6.560000000000001e-103 6.56 -103 0.715 0.656 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 761.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SRSF2 HDL cholesterol (30760) EFO_0004612 4.09e-14 4.09 -14 -0.355 -0.48 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 166.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOA1 HDL cholesterol (30760) EFO_0004612 8.66e-16 8.66 -16 -0.681 -0.9 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 54.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CETP HDL cholesterol (30760) EFO_0004612 1.31e-96 1.31 -96 0.916 0.837 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 437.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LPL HDL cholesterol (30760) EFO_0004612 5.45e-38 5.45 -38 -0.351 -0.414 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 658.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LPL HDL cholesterol (30760) EFO_0004612 1.12e-17 1.12 -17 -0.37 -0.48 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 216.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON CETP HDL cholesterol (30760) EFO_0004612 2.9600000000000002e-105 2.96 -105 1.024 0.939 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 379.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CETP HDL cholesterol (30760) EFO_0004612 6.560000000000001e-103 6.56 -103 0.715 0.656 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 761.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CETP HDL cholesterol (30760) EFO_0004612 1.29e-19 1.29 -19 1.053 0.866 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 77.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ABCA1 HDL cholesterol (30760) EFO_0004612 5.44e-205 5.44 -205 -0.725 -0.775 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1048.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACAN Leg predicted mass right (23114) EFO_0004302 1.4e-16 1.4 -16 -0.461 -0.604 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 63.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON IGF1R Leg predicted mass right (23114) EFO_0004302 3.52e-14 3.52 -14 -0.085 -0.114 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 1485.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IRS1 Leg predicted mass right (23114) EFO_0004302 7.65e-18 7.65 -18 -0.327 -0.424 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 140.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN ICD10 I42.9: Cardiomyopathy, unspecified EFO_0000318 6.62e-19 6.62 -19 5.907 8.742 EUR HANCESTRO_0005 UK Biobank 450k GCST90079999 387930 681 42.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Leg predicted mass right (23114) EFO_0004302 3e-15 3.0 -15 0.407 0.326 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 197.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PAPPA2 Leg predicted mass right (23114) EFO_0004302 2.25e-12 2.25 -12 -0.066 -0.091 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 2008.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 I42.9: Cardiomyopathy, unspecified EFO_0000318 4.78e-19 4.78 -19 7.746 12.148 EUR HANCESTRO_0005 UK Biobank 450k GCST90079999 387930 681 34.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN ICD10 I42.9: Cardiomyopathy, unspecified EFO_0000318 5.47e-17 5.47 -17 4.854 7.024 EUR HANCESTRO_0005 UK Biobank 450k GCST90079999 387930 681 45.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGFALS Leg predicted mass right (23114) EFO_0004302 1.07e-13 1.07 -13 -0.072 -0.098 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 1957.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 I42.9: Cardiomyopathy, unspecified EFO_0000318 5.47e-17 5.47 -17 4.854 7.024 EUR HANCESTRO_0005 UK Biobank 450k GCST90079999 387930 681 45.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB Treatment or Medication Code - simvastatin EFO_0007010 1.11e-12 1.11 -12 0.32 0.438 EUR HANCESTRO_0005 UK Biobank 450k GCST90078009 320758 51781 31.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MEPE Heel Broadband ultrasound attenuation direct entry (3144) EFO_0004514 3.77e-32 3.77 -32 -0.26 -0.311 EUR HANCESTRO_0005 UK Biobank 450k GCST90079049 246304 246304 1108.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON INSC Heel Broadband ultrasound attenuation direct entry (3144) EFO_0004514 8e-18 8.0 -18 0.108 0.088 EUR HANCESTRO_0005 UK Biobank 450k GCST90079049 246304 246304 7653.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL3 Triglycerides (30870) EFO_0004530 9.42e-18 9.42 -18 -0.491 -0.636 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 147.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ANGPTL8 Triglycerides (30870) EFO_0004530 1.8500000000000002e-29 1.85 -29 -0.344 -0.417 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 587.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOA5 Triglycerides (30870) EFO_0004530 5.4300000000000006e-27 5.43 -27 0.842 0.712 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 188.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON G6PC Triglycerides (30870) EFO_0004530 5.65e-13 5.65 -13 0.306 0.241 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 721.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH6 ICD10 C54.1: Malignant neoplasm of endometrium MONDO_0011962 1.21e-18 1.21 -18 5.499 8.034 EUR HANCESTRO_0005 UK Biobank 450k GCST90079607 228786 1469 45.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON G6PC Triglycerides (30870) EFO_0004530 1.38e-19 1.38 -19 0.26 0.213 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 1452.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON INSR Triglycerides (30870) EFO_0004530 5.89e-16 5.89 -16 -0.07 -0.092 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 6347.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL4 Triglycerides (30870) EFO_0004530 3.3999999999999997e-35 3.4 -35 -0.296 -0.352 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 1005.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOC3 Triglycerides (30870) EFO_0004530 2.38e-102 2.38 -102 -1.066 -1.173 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 277.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH6 ICD10 C54.1: Malignant neoplasm of endometrium MONDO_0011962 3.48e-23 3.48 -23 12.942 21.467 EUR HANCESTRO_0005 UK Biobank 450k GCST90079607 228786 1469 31.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH6 ICD10 C54.1: Malignant neoplasm of endometrium MONDO_0011962 1.49e-14 1.49 -14 3.842 5.415 EUR HANCESTRO_0005 UK Biobank 450k GCST90079607 228786 1469 50.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LPL Triglycerides (30870) EFO_0004530 7.97e-30 7.97 -30 0.454 0.387 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 705.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 ICD10 D69.6: Thrombocytopenia, unspecified HP_0001873 1.25e-11 1.25 -11 4.263 6.486 EUR HANCESTRO_0005 UK Biobank 450k GCST90079714 387579 1788 34.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 ICD10 D69.6: Thrombocytopenia, unspecified HP_0001873 2.34e-12 2.34 -12 4.113 6.106 EUR HANCESTRO_0005 UK Biobank 450k GCST90079714 387579 1788 38.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 ICD10 D69.6: Thrombocytopenia, unspecified HP_0001873 2.34e-12 2.34 -12 4.113 6.106 EUR HANCESTRO_0005 UK Biobank 450k GCST90079714 387579 1788 38.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PIEZO1 ICD10 I83: Varicose veins of lower extremities HP_0002619 7.06e-14 7.06 -14 1.667 1.905 EUR HANCESTRO_0005 UK Biobank 450k GCST90080066 380908 15125 272.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CYP1A2 Coffee consumed - Yes (100240) EFO_0006781 2.64e-13 2.64 -13 0.685 0.758 EUR HANCESTRO_0005 UK Biobank 450k GCST90077557 185644 144030 1388.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APC Non cancer illness code self reported - rectal or colon adenoma polyps/ICD10 D12 EFO_1000633 6.84e-16 6.84 -16 40.879 100.629 EUR HANCESTRO_0005 UK Biobank 450k GCST90077868 329052 1492 12.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MEPE Heel bone mineral density BMD T score automated left (4106) EFO_0009270 4.68e-24 4.68 -24 -0.283 -0.351 EUR HANCESTRO_0005 UK Biobank 450k GCST90079153 166283 166283 651.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON WNT1 Heel bone mineral density BMD T score automated left (4106) EFO_0009270 4.6e-13 4.6 -13 -0.361 -0.495 EUR HANCESTRO_0005 UK Biobank 450k GCST90079153 166283 166283 167.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON WNT1 Heel bone mineral density BMD T score automated left (4106) EFO_0009270 3.12e-13 3.12 -13 -0.368 -0.503 EUR HANCESTRO_0005 UK Biobank 450k GCST90079153 166283 166283 164.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON FLG ChildhoodAsthmaCases vs AdultAsthmaCases (RGC) MONDO_0005405 4.49e-12 4.49 -12 1.438 1.594 EUR HANCESTRO_0005 UK Biobank 450k GCST90081472 43153 16952 787.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ABCB4 ICD10 K80.2: Calculus of gallbladder without cholecystitis EFO_1000790 1.93e-11 1.93 -11 2.145 2.68 EUR HANCESTRO_0005 UK Biobank 450k GCST90080295 387904 10288 122.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB Non cancer illness code self reported - high cholesterol HP_0003124 4.45e-12 4.45 -12 0.181 0.294 EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 10.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON APC Non cancer illness code self reported - rectal or colon adenoma polyps EFO_1000633 1.17e-15 1.17 -15 39.389 96.798 EUR HANCESTRO_0005 UK Biobank 450k GCST90077867 331754 1530 12.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SH2B3 Cystatin C (30720) EFO_0004617 7.19e-14 7.19 -14 0.394 0.312 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 387.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LRP2 Cystatin C (30720) EFO_0004617 2.04e-27 2.04 -27 -0.062 -0.075 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 14559.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CST3 Cystatin C (30720) EFO_0004617 2.2300000000000002e-307 2.23 -307 -2.817 -2.916 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 282.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LRP2 Cystatin C (30720) EFO_0004617 3.3099999999999997e-23 3.31 -23 -0.152 -0.189 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 1876.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 Cystatin C (30720) EFO_0004617 5.21e-17 5.21 -17 0.202 0.164 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 1778.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC34A3 Cystatin C (30720) EFO_0004617 8.9e-40 8.9 -40 0.257 0.223 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 2362.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LRP2 Cystatin C (30720) EFO_0004617 3.72e-16 3.72 -16 -0.228 -0.3 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 501.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 Cystatin C (30720) EFO_0004617 9.49e-36 9.49 -36 0.673 0.582 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 311.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD1 Cystatin C (30720) EFO_0004617 9.49e-36 9.49 -36 0.673 0.582 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 311.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MLH1 ICD10 C18: Malignant neoplasm of colon EFO_1001950 2.31e-13 2.31 -13 13.068 25.984 EUR HANCESTRO_0005 UK Biobank 450k GCST90079581 387657 3899 17.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MITF Cystatin C (30720) EFO_0004617 2.06e-14 2.06 -14 0.116 0.092 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 4665.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 Cystatin C (30720) EFO_0004617 1.0299999999999999e-40 1.03 -40 0.793 0.692 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 252.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON CGNL1 Cystatin C (30720) EFO_0004617 6.51e-18 6.51 -18 0.543 0.443 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 256.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CST3 Cystatin C (30720) EFO_0004617 2.82e-118 2.82 -118 -2.521 -2.755 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 51.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 Cystatin C (30720) EFO_0004617 3.37e-14 3.37 -14 0.202 0.16 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 1516.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 Illnesses of siblings - Breast cancer (20111) EFO_0009640 9.7e-23 9.7 -23 3.939 5.179 EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 84.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 I50.1: Left ventricular failure, unspecified EFO_0003144 1.85e-15 1.85 -15 2.382 2.95 EUR HANCESTRO_0005 UK Biobank 450k GCST90080021 387725 4762 115.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 Illnesses of siblings - Breast cancer (20111) EFO_0009640 4.5900000000000006e-37 4.59 -37 3.427 4.144 EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 168.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 Illnesses of siblings - Breast cancer (20111) EFO_0009640 1.88e-15 1.88 -15 1.474 1.622 EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 512.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON FLCN Non cancer illness code self reported - spontaneous pneumothorax recurrent pneumothorax/ICD10 J93 HP_0002108 1.04e-13 1.04 -13 18.701 40.47 EUR HANCESTRO_0005 UK Biobank 450k GCST90077686 329051 839 14.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON FLCN Non cancer illness code self reported - spontaneous pneumothorax recurrent pneumothorax/ICD10 J93 HP_0002108 6.9e-18 6.9 -18 41.767 97.614 EUR HANCESTRO_0005 UK Biobank 450k GCST90077686 329051 839 14.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ASXL1 ICD10 C92: Myeloid leukemia EFO_0002427 5.84e-21 5.84 -21 6.931 10.38 EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 41.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 ICD10 C92: Myeloid leukemia EFO_0002427 5.68e-16 5.68 -16 15.451 29.977 EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 18.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ANGPTL7 Intra ocular pressure corneal compensated right (5254) EFO_0004695 1.02e-12 1.02 -12 -0.116 -0.16 EUR HANCESTRO_0005 UK Biobank 450k GCST90079333 105888 105888 1877.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 1.05e-18 1.05 -18 2.609 3.228 EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 133.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Arm fat mass left (23124) EFO_0005409 4.25e-26 4.25 -26 0.374 0.315 EUR HANCESTRO_0005 UK Biobank 450k GCST90078927 423512 423512 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Arm fat mass left (23124) EFO_0005409 2.69e-15 2.69 -15 0.642 0.514 EUR HANCESTRO_0005 UK Biobank 450k GCST90078927 423512 423512 197.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 1.44e-38 1.44 -38 4.155 5.151 EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 136.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 5.57e-23 5.57 -23 4.39 5.888 EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 74.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACO1 Red blood cell erythrocyte count (30010) EFO_0004305 3.26e-17 3.26 -17 0.405 0.329 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 403.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GIGYF1 Red blood cell erythrocyte count (30010) EFO_0004305 4.22e-18 4.22 -18 0.098 0.08 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 7321.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC9A3R2 Red blood cell erythrocyte count (30010) EFO_0004305 2.85e-17 2.85 -17 -0.063 -0.082 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 6540.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.8000000000000002e-158 1.8 -158 2.277 2.122 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 98.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 5.6e-106 5.6 -106 2.217 2.035 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.59e-14 1.59 -14 2.235 1.781 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CHEK2 Illnesses of mother - Breast cancer (20110) EFO_0009640 2.55e-16 2.55 -16 1.655 1.867 EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 343.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.63e-13 1.63 -13 2.499 1.975 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 14.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PTPN14 ICD10 C44.3: Other and unspecified malignant neoplasm of skin of other and unspecified parts of face EFO_0004198 2.09e-12 2.09 -12 9.788 18.491 EUR HANCESTRO_0005 UK Biobank 450k GCST90079596 387930 7572 19.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON KLF1 Red blood cell erythrocyte count (30010) EFO_0004305 4.87e-14 4.87 -14 0.47 0.373 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 250.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACO1 Red blood cell erythrocyte count (30010) EFO_0004305 3.21e-22 3.21 -22 0.17 0.141 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 2911.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CAD Red blood cell erythrocyte count (30010) EFO_0004305 2.13e-12 2.13 -12 -0.309 -0.428 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 166.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON APEH Red blood cell erythrocyte count (30010) EFO_0004305 2.3e-12 2.3 -12 -0.127 -0.176 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 975.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 4.8e-26 4.8 -26 2.561 2.16 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 21.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 Red blood cell erythrocyte count (30010) EFO_0004305 2.36e-12 2.36 -12 -0.094 -0.13 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 1779.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBA2 Red blood cell erythrocyte count (30010) EFO_0004305 1.07e-12 1.07 -12 1.137 0.892 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 39.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GGT1 Gamma glutamyltransferase (30730) EFO_0004532 1.4799999999999999e-152 1.48 -152 -0.952 -1.028 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 498.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 ICD10 N18.9: Chronic kidney disease, unspecified EFO_0003884 1.1500000000000001e-35 1.15 -35 39.911 71.259 EUR HANCESTRO_0005 UK Biobank 450k GCST90080583 387930 3916 31.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON EXOC3L4 Gamma glutamyltransferase (30730) EFO_0004532 1.55e-28 1.55 -28 -0.188 -0.228 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1761.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKHD1 Gamma glutamyltransferase (30730) EFO_0004532 1.02e-17 1.02 -17 0.211 0.172 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1843.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON EXOC3L4 Gamma glutamyltransferase (30730) EFO_0004532 9.03e-12 9.03 -12 -0.074 -0.104 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 3889.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EXOC3L4 Gamma glutamyltransferase (30730) EFO_0004532 8.91e-14 8.91 -14 -0.183 -0.249 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 668.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON EPB41 High light scatter reticulocyte count (30300) EFO_0007986 1.39e-13 1.39 -13 0.653 0.516 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 178.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 High light scatter reticulocyte count (30300) EFO_0007986 2.37e-20 2.37 -20 0.248 0.205 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1754.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON EPB41 High light scatter reticulocyte count (30300) EFO_0007986 1.39e-13 1.39 -13 0.653 0.516 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 178.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPHK1 High light scatter reticulocyte count (30300) EFO_0007986 1.97e-34 1.97 -34 -0.124 -0.147 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 5986.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SPTA1 High light scatter reticulocyte count (30300) EFO_0007986 2.43e-25 2.43 -25 0.665 0.56 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 299.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON EIF2AK1 High light scatter reticulocyte count (30300) EFO_0007986 1.68e-11 1.68 -11 0.285 0.221 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 798.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SPTA1 High light scatter reticulocyte count (30300) EFO_0007986 5.36e-31 5.36 -31 0.66 0.564 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 365.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC4A1 High light scatter reticulocyte count (30300) EFO_0007986 4.21e-20 4.21 -20 1.148 0.946 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 81.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Forced vital capacity FVC (3062) EFO_0004312 1.02e-13 1.02 -13 -0.074 -0.1 EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 2481.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON NF1 Non cancer illness code self reported - other neurological problem EFO_0000618 1.16e-18 1.16 -18 4.457 6.212 EUR HANCESTRO_0005 UK Biobank 450k GCST90077842 331754 1794 55.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TP53 DD Cancer - Yes (2453) EFO_0000311 5.47e-12 5.47 -12 2.383 3.05 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 96.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ATM DD Cancer - Yes (2453) EFO_0000311 4.94e-16 4.94 -16 1.961 2.308 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 206.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 DD Cancer - Yes (2453) EFO_0000311 3.58e-15 3.58 -15 1.319 1.414 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 1007.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ATM DD Cancer - Yes (2453) EFO_0000311 1.34e-11 1.34 -11 1.283 1.38 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 922.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MEN1 ICD10 E21: Hyperparathyroidism and other disorders of parathyroid gland EFO_0008506 8.13e-23 8.13 -23 737.503 2750.38 EUR HANCESTRO_0005 UK Biobank 450k GCST90079753 387625 1168 10.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 White blood cell leukocyte count (30000) EFO_0004308 3.95e-18 3.95 -18 -0.15 -0.194 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 1779.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC45A2 Ease of skin tanning - Get very tanned (1727) EFO_0007009 7.620000000000001e-35 7.62 -35 0.387 0.45 EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 161.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CXCR2 White blood cell leukocyte count (30000) EFO_0004308 1.99e-17 1.99 -17 -0.336 -0.437 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 335.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC45A2 Ease of skin tanning - Get very tanned (1727) EFO_0007009 3.34e-13 3.34 -13 0.273 0.388 EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 25.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CXCR4 White blood cell leukocyte count (30000) EFO_0004308 9.080000000000001e-21 9.08 -21 0.573 0.474 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 345.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON S1PR4 White blood cell leukocyte count (30000) EFO_0004308 1.22e-11 1.22 -11 -0.147 -0.207 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 954.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TNFRSF13B White blood cell leukocyte count (30000) EFO_0004308 2.17e-16 2.17 -16 -0.07 -0.092 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 7149.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CXCL6 White blood cell leukocyte count (30000) EFO_0004308 3.68e-16 3.68 -16 -0.074 -0.098 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 6179.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON FOXA3 SHBG (30830) EFO_0004696 2.14e-22 2.14 -22 0.357 0.297 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 730.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Seated height (51) EFO_0011011 7.02e-20 7.02 -20 0.823 0.678 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 93.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACAN Seated height (51) EFO_0011011 5.01e-22 5.01 -22 -0.83 -1.042 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 44.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON SPSB3 Seated height (51) EFO_0011011 1.09e-15 1.09 -15 -0.053 -0.071 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 6612.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 Smoking status - Current (20116) EFO_0006527 2.5e-15 2.5 -15 1.467 1.614 EUR HANCESTRO_0005 UK Biobank 450k GCST90078302 429255 45239 566.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Seated height (51) EFO_0011011 6e-17 6.0 -17 0.621 0.503 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 142.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SCUBE3 Seated height (51) EFO_0011011 1.12e-20 1.12 -20 -0.151 -0.191 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 1235.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON B4GALNT3 Seated height (51) EFO_0011011 4.9e-12 4.9 -12 0.102 0.08 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 3904.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 Smoking status - Current (20116) EFO_0006527 1.88e-22 1.88 -22 2.51 3.02 EUR HANCESTRO_0005 UK Biobank 450k GCST90078302 429255 45239 176.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PDE3B Seated height (51) EFO_0011011 4.09e-15 4.09 -15 0.154 0.123 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 2097.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Seated height (51) EFO_0011011 1.53e-11 1.53 -11 -0.051 -0.073 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 4492.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Seated height (51) EFO_0011011 1.46e-13 1.46 -13 0.528 0.418 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 161.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ATG4C SHBG (30830) EFO_0004696 3.22e-12 3.22 -12 0.139 0.108 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 2820.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IRS1 Seated height (51) EFO_0011011 2.48e-12 2.48 -12 -0.301 -0.417 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 145.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZNF770 SHBG (30830) EFO_0004696 1.71e-17 1.71 -17 1.272 1.034 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 46.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Seated height (51) EFO_0011011 1.46e-13 1.46 -13 0.528 0.418 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 161.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Hand grip strength right (47) EFO_0006941 9.69e-13 9.69 -13 -0.045 -0.062 EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 5940.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Hand grip strength right (47) EFO_0006941 1.1e-16 1.1 -16 -0.064 -0.083 EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 4480.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON COL4A4 ICD10 R31: Hematuria HP_0000790 1.59e-13 1.59 -13 5.15 7.96 EUR HANCESTRO_0005 UK Biobank 450k GCST90080842 383009 19710 36.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ZFAT Trunk predicted mass (23130) EFO_0004324 5.32e-29 5.32 -29 0.185 0.158 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 1594.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 6mm strong meridian left (5134) EFO_0004731 8.79e-19 8.79 -19 0.987 0.808 EUR HANCESTRO_0005 UK Biobank 450k GCST90079300 89735 89735 95.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Trunk predicted mass (23130) EFO_0004324 3.77e-24 3.77 -24 -0.07 -0.087 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 4400.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON IRS1 Trunk predicted mass (23130) EFO_0004324 4.43e-25 4.43 -25 -0.4 -0.494 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 140.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON OBSCN Impedance of whole body (23106) HP_0000924 1.68e-14 1.68 -14 -0.038 -0.051 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 11787.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS17 Impedance of whole body (23106) HP_0000924 5.98e-13 5.98 -13 -0.186 -0.255 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 394.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IGFALS Trunk predicted mass (23130) EFO_0004324 8.26e-15 8.26 -15 -0.074 -0.099 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 1957.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Trunk predicted mass (23130) EFO_0004324 6.69e-15 6.69 -15 0.421 0.336 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 170.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CRP C reactive protein (30710) EFO_0004458 3.36e-34 3.36 -34 -0.552 -0.658 EUR HANCESTRO_0005 UK Biobank 450k GCST90079026 411229 411229 306.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 6mm strong meridian left (5134) EFO_0004731 6.71e-24 6.71 -24 0.753 0.63 EUR HANCESTRO_0005 UK Biobank 450k GCST90079300 89735 89735 203.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Trunk predicted mass (23130) EFO_0004324 3.08e-16 3.08 -16 0.455 0.367 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 157.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON G6PC C reactive protein (30710) EFO_0004458 1.23e-17 1.23 -17 0.256 0.208 EUR HANCESTRO_0005 UK Biobank 450k GCST90079026 411229 411229 1445.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Non cancer illness code self reported - angina/ICD10 I20 EFO_0003913 1.28e-15 1.28 -15 2.327 2.862 EUR HANCESTRO_0005 UK Biobank 450k GCST90077656 329052 13585 129.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SCUBE3 Trunk predicted mass (23130) EFO_0004324 1.28e-16 1.28 -16 -0.102 -0.134 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 1216.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON UBR2 Leg fat mass right (23112) EFO_0005409 7.99e-12 7.99 -12 0.553 0.43 EUR HANCESTRO_0005 UK Biobank 450k GCST90078915 423659 423659 141.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Trunk predicted mass (23130) EFO_0004324 5.92e-18 5.92 -18 -0.05 -0.064 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 5839.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Leg fat mass right (23112) EFO_0005409 6.79e-14 6.79 -14 0.502 0.398 EUR HANCESTRO_0005 UK Biobank 450k GCST90078915 423659 423659 197.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Trunk predicted mass (23130) EFO_0004324 5.92e-18 5.92 -18 -0.05 -0.064 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 5839.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS3 Impedance of whole body (23106) HP_0000924 6.91e-35 6.91 -35 -0.099 -0.117 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 5509.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Trunk predicted mass (23130) EFO_0004324 3.81e-13 3.81 -13 0.841 0.663 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 38.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON IGF1R Trunk predicted mass (23130) EFO_0004324 3.23e-21 3.23 -21 -0.134 -0.169 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 995.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ALPL Calcium (30680) EFO_0004838 1.43e-13 1.43 -13 0.213 0.169 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 1752.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANKRD12 Calcium (30680) EFO_0004838 6.93e-13 6.93 -13 -0.297 -0.408 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 281.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TYRP1 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 2.09e-11 2.09 -11 2.242 2.84 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 127.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TYRP1 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 5.5e-21 5.5 -21 1.836 2.084 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 402.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON KDM5B Duration to first press of snap button in each round (404) EFO_0008354 1.13e-13 1.13 -13 0.269 0.213 EUR HANCESTRO_0005 UK Biobank 450k GCST90079143 428085 428085 1015.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON FANCA Ease of skin tanning - Never tan only burn (1727) EFO_0007009 3.93e-18 3.93 -18 0.745 0.797 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 1008.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC1R Ease of skin tanning - Never tan only burn (1727) EFO_0007009 5.17e-17 5.17 -17 2.609 3.265 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 138.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON OCA2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 1.4500000000000002e-296 1.45 -296 2.38 2.493 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 3350.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CNNM4 Calcium (30680) EFO_0004838 5.85e-14 5.85 -14 0.328 0.26 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 768.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC1R Ease of skin tanning - Never tan only burn (1727) EFO_0007009 5.17e-17 5.17 -17 2.609 3.265 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 138.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANKRD12 Calcium (30680) EFO_0004838 6.93e-13 6.93 -13 -0.297 -0.408 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 281.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ALB Calcium (30680) EFO_0004838 1.51e-34 1.51 -34 -0.293 -0.348 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 1128.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GAS8 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 2.11e-16 2.11 -16 1.277 1.354 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 1599.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC45A2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 3.43e-85 3.43 -85 2.33 2.536 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 989.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ALPL Alkaline phosphatase (30610) EFO_0004533 1.6299999999999999e-91 1.63 -91 -1.825 -2.02 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 79.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON B4GALNT3 Alkaline phosphatase (30610) EFO_0004533 4.77e-39 4.77 -39 0.217 0.189 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 3739.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 8.7e-18 8.7 -18 3.192 4.16 EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 87.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 ICD10 C50: Malignant neoplasm of breast EFO_0003869 3.19e-28 3.19 -28 5.718 7.797 EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 76.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON OSGIN1 Alkaline phosphatase (30610) EFO_0004533 8.499999999999999e-31 8.5 -31 -0.074 -0.089 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 13491.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ALPL Alkaline phosphatase (30610) EFO_0004533 2.2300000000000002e-307 2.23 -307 -1.624 -1.663 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 1910.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 C50: Malignant neoplasm of breast EFO_0003869 3.19e-28 3.19 -28 5.718 7.797 EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 76.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASGR1 Alkaline phosphatase (30610) EFO_0004533 1.67e-261 1.67 -261 1.165 1.103 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 766.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GPLD1 Alkaline phosphatase (30610) EFO_0004533 4.68e-18 4.68 -18 -0.616 -0.796 AFR HANCESTRO_0010 UK Biobank 450k 8544 8544 117.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Hip circumference (49) EFO_0005093 8.74e-22 8.74 -22 0.351 0.292 EUR HANCESTRO_0005 UK Biobank 450k GCST90079253 430214 430214 954.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD1 ICD10 D04: Carcinoma in situ of skin EFO_0004198 2.14e-11 2.14 -11 39.481 115.789 EUR HANCESTRO_0005 UK Biobank 450k GCST90079645 387746 973 8.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON ACVRL1 ICD10 I78: Diseases of capillaries EFO_0004264 2.62e-19 2.62 -19 168.599 516.038 EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 10.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANK1 Reticulocyte percentage (30240) EFO_0010700 1.19e-17 1.19 -17 1.114 0.907 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 79.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON CALR Reticulocyte percentage (30240) EFO_0010700 7.25e-12 7.25 -12 0.999 0.777 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 69.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SH2B3 Reticulocyte percentage (30240) EFO_0010700 5.58e-19 5.58 -19 0.169 0.139 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 3655.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IFRD2 Reticulocyte percentage (30240) EFO_0010700 1.71e-78 1.71 -78 0.393 0.356 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 2475.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 4.25e-28 4.25 -28 9.916 14.929 EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 44.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SPTA1 Reticulocyte percentage (30240) EFO_0010700 2.9700000000000002e-58 2.97 -58 0.894 0.797 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 365.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Reticulocyte percentage (30240) EFO_0010700 1.44e-25 1.44 -25 0.279 0.235 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1754.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ANK1 Reticulocyte percentage (30240) EFO_0010700 5.62e-15 5.62 -15 0.099 0.079 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 8817.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 1.31e-17 1.31 -17 19.755 39.168 EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 18.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 5.88e-36 5.88 -36 18.39 29.01 EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 41.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SRSF2 Reticulocyte percentage (30240) EFO_0010700 1.14e-11 1.14 -11 0.874 0.678 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 89.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 Reticulocyte percentage (30240) EFO_0010700 2.4e-25 2.4 -25 0.277 0.233 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1767.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD1 ICD10 D63.165.8: Anemia in chronic kidney disease EFO_0004272 1.6e-12 1.6 -12 20.426 47.166 EUR HANCESTRO_0005 UK Biobank 450k GCST90079710 387885 936 12.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GMPR Reticulocyte percentage (30240) EFO_0010700 7.72e-40 7.72 -40 0.359 0.313 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1583.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MLH1 Type of Cancer: Malignant neoplasm of colon (40006) EFO_1001950 4.97e-15 4.97 -15 23.721 52.414 EUR HANCESTRO_0005 UK Biobank 450k GCST90079082 74230 3309 17.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Impedance of leg right (23107) HP_0000924 6.69e-12 6.69 -12 0.098 0.076 EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 5849.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Impedance of leg right (23107) HP_0000924 1.16e-17 1.16 -17 0.172 0.14 EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 2646.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Impedance of leg right (23107) HP_0000924 6.69e-12 6.69 -12 0.098 0.076 EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 5849.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Impedance of leg right (23107) HP_0000924 1.16e-17 1.16 -17 0.172 0.14 EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 2646.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACO1 Haematocrit percentage (30030) EFO_0004348 7.67e-26 7.67 -26 0.479 0.404 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 403.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACO1 Haematocrit percentage (30030) EFO_0004348 2.34e-30 2.34 -30 0.192 0.164 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 2911.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Haematocrit percentage (30030) EFO_0004348 4.95e-15 4.95 -15 -0.108 -0.143 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1779.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 Haematocrit percentage (30030) EFO_0004348 4.95e-15 4.95 -15 -0.108 -0.143 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1779.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON FLCN ICD10 J93: Pneumothorax and air leak MONDO_0002076 2.38e-13 2.38 -13 17.59 37.883 EUR HANCESTRO_0005 UK Biobank 450k GCST90080153 387375 1190 14.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 Haematocrit percentage (30030) EFO_0004348 7.12e-15 7.12 -15 -0.106 -0.142 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1794.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LRP5 Heel bone mineral density BMD T score automated (78) EFO_0009270 9.82e-14 9.82 -14 -0.443 -0.601 EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 120.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASGR1 LDL direct (30780) EFO_0004611 2.33e-14 2.33 -14 -0.19 -0.256 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 765.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR Treatment or Medication Code - ezetimibe EFO_0007010 1.4399999999999997e-23 1.44 -23 15.813 27.157 EUR HANCESTRO_0005 UK Biobank 450k GCST90078226 320758 2675 29.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB LDL direct (30780) EFO_0004611 9.7e-49 9.7 -49 -0.705 -0.814 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 282.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON PCSK9 LDL direct (30780) EFO_0004611 3.61e-16 3.61 -16 -0.69 -0.908 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 70.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON APOB LDL direct (30780) EFO_0004611 2.2300000000000002e-307 2.23 -307 -1.64 -1.709 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 699.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 LDL direct (30780) EFO_0004611 1.76e-184 1.76 -184 -0.733 -0.786 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 1184.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR LDL direct (30780) EFO_0004611 1.66e-59 1.66 -59 0.456 0.407 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 1450.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR ICD10 I20: Angina pectoris EFO_0003913 3.94e-14 3.94 -14 2.114 2.567 EUR HANCESTRO_0005 UK Biobank 450k GCST90079968 386565 22332 146.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON FLG Vitamin D (30890) EFO_0004631 7.74e-40 7.74 -40 0.129 0.113 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 12731.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON INSC Vitamin D (30890) EFO_0004631 1.63e-22 1.63 -22 -0.201 -0.252 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 1380.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CYP2R1 Vitamin D (30890) EFO_0004631 5.6e-15 5.6 -15 -0.365 -0.488 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 234.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 1.7699999999999998e-23 1.77 -23 8.454 12.853 EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 41.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON NF1 Non cancer illness code self reported - other neurological problem/ICD10 G98 EFO_0000618 8.21e-20 8.21 -20 4.74 6.624 EUR HANCESTRO_0005 UK Biobank 450k GCST90077843 329052 1701 55.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FLG Vitamin D (30890) EFO_0004631 3.3e-21 3.3 -21 0.139 0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 6130.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Treatment or Medication Code - warfarin EFO_0007010 5.36e-12 5.36 -12 2.208 2.766 EUR HANCESTRO_0005 UK Biobank 450k GCST90078123 320758 4740 102.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON KLHDC7B hearing loss (RGC) EFO_0004238 8.729999999999999e-28 8.73 -28 2.156 2.474 EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 451.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON KLHDC7B hearing loss (RGC) EFO_0004238 8.729999999999999e-28 8.73 -28 2.156 2.474 EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 451.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TECTA hearing loss (RGC) EFO_0004238 4.19e-17 4.19 -17 1.465 1.601 EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 926.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MYO6 hearing loss (RGC) EFO_0004238 6.75e-13 6.75 -13 3.112 4.242 EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 106.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 3.32e-34 3.32 -34 13.448 20.421 EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 47.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON NF1 ICD10 D36: Benign neoplasm of other and unspecified sites EFO_0002422 5.21e-47 5.21 -47 61.223 107.185 EUR HANCESTRO_0005 UK Biobank 450k GCST90079695 387660 899 34.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON NF1 ICD10 D36: Benign neoplasm of other and unspecified sites EFO_0002422 2.63e-41 2.63 -41 18.928 29.044 EUR HANCESTRO_0005 UK Biobank 450k GCST90079695 387660 899 46.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MEPE Heel bone mineral density BMD (3148) EFO_0009270 6.87e-15 6.87 -15 -0.241 -0.323 EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 453.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON FCGRT Albumin (30600) EFO_0004535 8.809999999999999e-38 8.81 -38 -1.194 -1.41 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 74.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LRP5 Heel bone mineral density BMD (3148) EFO_0009270 6.71e-14 6.71 -14 -0.447 -0.605 EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 120.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ALB Albumin (30600) EFO_0004535 3.86e-69 3.86 -69 -1.744 -1.963 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 71.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON STAB1 Albumin (30600) EFO_0004535 3.07e-12 3.07 -12 0.119 0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 5177.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TBC1D2B Albumin (30600) EFO_0004535 1.35e-14 1.35 -14 -0.483 -0.648 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 125.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IQGAP2 Albumin (30600) EFO_0004535 5.0599999999999996e-24 5.06 -24 -0.123 -0.152 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 3938.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Leg fat free mass left (23117) EFO_0004995 4.72e-20 4.72 -20 0.164 0.135 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 1594.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PDE3B Leg fat free mass left (23117) EFO_0004995 5.18e-14 5.18 -14 0.123 0.098 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 2067.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Leg fat free mass left (23117) EFO_0004995 1.83e-50 1.83 -50 0.122 0.108 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 6709.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 ICD10 A41: Other sepsis HP_0100806 1.08e-11 1.08 -11 2.738 3.661 EUR HANCESTRO_0005 UK Biobank 450k GCST90079546 387463 5918 65.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R Leg fat free mass left (23117) EFO_0004995 6.11e-14 6.11 -14 -0.387 -0.523 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 71.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Leg fat free mass left (23117) EFO_0004995 1.88e-12 1.88 -12 0.363 0.284 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 213.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACAN Leg fat free mass left (23117) EFO_0004995 1.58e-16 1.58 -16 -0.465 -0.611 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 63.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Leg fat free mass left (23117) EFO_0004995 2.63e-13 2.63 -13 -0.062 -0.084 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 2642.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PIEZO1 ICD10 I83.9: Asymptomatic varicose veins of lower extremities HP_0002619 2.19e-12 2.19 -12 2.81 3.749 EUR HANCESTRO_0005 UK Biobank 450k GCST90080065 387815 11767 67.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON EIF2AK1 High light scatter reticulocyte percentage (30290) EFO_0010700 2.01e-11 2.01 -11 0.56 0.434 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 209.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PKLR High light scatter reticulocyte percentage (30290) EFO_0010700 6.58e-24 6.58 -24 0.374 0.313 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 916.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON EIF2AK1 High light scatter reticulocyte percentage (30290) EFO_0010700 2.01e-11 2.01 -11 0.56 0.434 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 209.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC1R Use of sun uv protection - Always (2267) EFO_0010729 3.39e-18 3.39 -18 1.308 1.389 EUR HANCESTRO_0005 UK Biobank 450k GCST90078882 430409 96475 1577.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB High light scatter reticulocyte percentage (30290) EFO_0010700 5.38e-13 5.38 -13 0.876 0.689 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 96.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON RHAG High light scatter reticulocyte percentage (30290) EFO_0010700 1.9800000000000003e-27 1.98 -27 0.843 0.714 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 203.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IFRD2 High light scatter reticulocyte percentage (30290) EFO_0010700 1.4e-11 1.4 -11 0.512 0.397 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 254.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IFRD2 High light scatter reticulocyte percentage (30290) EFO_0010700 3.96e-87 3.96 -87 0.238 0.217 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 7383.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON R3HDM4 High light scatter reticulocyte percentage (30290) EFO_0010700 4.99e-12 4.99 -12 0.618 0.481 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 181.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GIGYF1 Glucose (30740) EFO_0004468 4.77e-13 4.77 -13 0.864 0.68 EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 105.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 High light scatter reticulocyte percentage (30290) EFO_0010700 9.29e-26 9.29 -26 0.279 0.235 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1754.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 High light scatter reticulocyte percentage (30290) EFO_0010700 1.73e-25 1.73 -25 0.276 0.233 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1767.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SRSF2 Immature reticulocyte fraction (30280) EFO_0010700 1.57e-16 1.57 -16 0.735 0.594 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 175.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC4A1 High light scatter reticulocyte percentage (30290) EFO_0010700 2.64e-12 2.64 -12 0.83 0.648 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 102.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON HBB Immature reticulocyte fraction (30280) EFO_0010700 3.87e-16 3.87 -16 0.982 0.792 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 96.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 High light scatter reticulocyte percentage (30290) EFO_0010700 3.8100000000000004e-21 3.81 -21 0.275 0.228 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1508.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON IQGAP2 High light scatter reticulocyte percentage (30290) EFO_0010700 1.08e-12 1.08 -12 0.131 0.103 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 4242.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKLR Immature reticulocyte fraction (30280) EFO_0010700 1.02e-12 1.02 -12 0.117 0.091 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 5623.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EIF2AK1 Immature reticulocyte fraction (30280) EFO_0010700 1.47e-16 1.47 -16 0.306 0.247 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 1015.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PKHD1 Creatinine (30700) EFO_0004518 6.17e-13 6.17 -13 -0.055 -0.075 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 5325.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LRP2 Creatinine (30700) EFO_0004518 4.09e-44 4.09 -44 -0.21 -0.244 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 1876.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC22A2 Creatinine (30700) EFO_0004518 3.31e-33 3.31 -33 0.231 0.198 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 2104.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC22A2 Creatinine (30700) EFO_0004518 2.04e-28 2.04 -28 0.311 0.264 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 998.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC7A9 Creatinine (30700) EFO_0004518 1.84e-18 1.84 -18 -0.09 -0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 3310.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC34A1 Creatinine (30700) EFO_0004518 1.44e-15 1.44 -15 0.171 0.138 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 1928.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC22A2 Creatinine (30700) EFO_0004518 1.83e-84 1.83 -84 0.291 0.264 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 3118.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CLDN10 Creatinine (30700) EFO_0004518 4.01e-15 4.01 -15 0.306 0.245 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 582.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 Creatinine (30700) EFO_0004518 1.2e-47 1.2 -47 1.058 0.932 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 138.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON LRP2 Creatinine (30700) EFO_0004518 4.0000000000000003e-28 4.0 -28 -0.365 -0.445 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 351.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC22A2 Creatinine (30700) EFO_0004518 1.01e-15 1.01 -15 0.413 0.332 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 331.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LRP2 Creatinine (30700) EFO_0004518 3.4199999999999996e-23 3.42 -23 -0.259 -0.323 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 541.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON SLC6A19 Creatinine (30700) EFO_0004518 1.01e-14 1.01 -14 -0.074 -0.098 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 3558.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NF1 ICD10 D36.1: Benign neoplasm of peripheral nerves and autonomic nervous system EFO_0002422 1.49e-48 1.49 -48 82.269 148.451 EUR HANCESTRO_0005 UK Biobank 450k GCST90079694 387929 616 32.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PALB2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 6.17e-15 6.17 -15 2.38 2.96 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 122.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ATM ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.04e-13 1.04 -13 1.997 2.397 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 165.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CHEK2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.04e-17 1.04 -17 1.732 1.964 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 329.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 9.74e-18 9.74 -18 2.283 2.757 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 161.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 4.0600000000000004e-32 4.06 -32 3.738 4.654 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 141.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON WNT1 Heel broadband ultrasound attenuation right (4120) EFO_0004514 3.4e-12 3.4 -12 -0.34 -0.473 EUR HANCESTRO_0005 UK Biobank 450k GCST90079155 166349 166349 164.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MSH2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.73e-13 1.73 -13 6.197 10.067 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 33.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 2e-15 2.0 -15 2.901 3.774 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 89.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.2e-13 1.2 -13 1.327 1.43 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 860.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CHEK2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 4.22e-15 4.22 -15 1.421 1.552 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 687.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PALB2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.21e-13 1.21 -13 1.771 2.059 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 231.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RASA2 Lymphocyte count (30120) EFO_0004587 5.35e-15 5.35 -15 -0.176 -0.235 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 970.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TNFRSF13B Lymphocyte count (30120) EFO_0004587 1.41e-32 1.41 -32 -0.111 -0.132 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 7135.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 5.99e-15 5.99 -15 0.411 0.329 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 80.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 6.31e-33 6.31 -33 0.113 0.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 2157.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 1.5900000000000002e-21 1.59 -21 0.138 0.114 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 990.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RASA2 Lymphocyte count (30120) EFO_0004587 6.25e-12 6.25 -12 -0.258 -0.361 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 318.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CHEK2 Lymphocyte count (30120) EFO_0004587 3.62e-25 3.62 -25 0.145 0.122 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 6980.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 2.85e-24 2.85 -24 -0.472 -0.584 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 43.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON DTL Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 9.98e-12 9.98 -12 -0.252 -0.353 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 53.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 4.01e-30 4.01 -30 -0.817 -0.986 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 19.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON GHRH Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 7.47e-13 7.47 -13 -0.257 -0.354 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 58.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NOTCH1 Lymphocyte count (30120) EFO_0004587 9.239999999999999e-30 9.24 -30 1.813 1.546 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 47.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 2.81e-18 2.81 -18 0.6 0.49 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 45.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SMAD6 corneal power (RGC) EFO_0004731 1.19e-15 1.19 -15 0.442 0.355 EUR HANCESTRO_0005 UK Biobank 450k GCST90081537 103531 103531 404.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 corneal power (RGC) EFO_0004731 1.19e-15 1.19 -15 0.442 0.355 EUR HANCESTRO_0005 UK Biobank 450k GCST90081537 103531 103531 404.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MIP Eye problems disorders - Cataract (6148) MONDO_0005129 5.5e-14 5.5 -14 8.273 14.35 EUR HANCESTRO_0005 UK Biobank 450k GCST90079433 37798 18309 63.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MIP Eye problems disorders - Cataract (6148) MONDO_0005129 5.5e-14 5.5 -14 8.273 14.35 EUR HANCESTRO_0005 UK Biobank 450k GCST90079433 37798 18309 63.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MAP3K15 Glycated haemoglobin HbA1c (30750) EFO_0004541 3.74e-17 3.74 -17 -0.066 -0.086 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 3929.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HK1 Glycated haemoglobin HbA1c (30750) EFO_0004541 7.23e-15 7.23 -15 -0.443 -0.593 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 135.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON APEH Glycated haemoglobin HbA1c (30750) EFO_0004541 1.31e-17 1.31 -17 0.339 0.276 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 736.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SPTA1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.1500000000000001e-43 1.15 -43 -0.608 -0.708 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 294.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON EPB41 Glycated haemoglobin HbA1c (30750) EFO_0004541 3.1500000000000004e-27 3.15 -27 -0.584 -0.714 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 176.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GCK Glycated haemoglobin HbA1c (30750) EFO_0004541 1.43e-28 1.43 -28 1.541 1.309 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 55.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON EPB41 Glycated haemoglobin HbA1c (30750) EFO_0004541 2.36e-14 2.36 -14 -0.23 -0.31 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 462.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TSHR ICD10 E03: Other hypothyroidism EFO_0004705 8.37e-25 8.37 -25 2.45 2.906 EUR HANCESTRO_0005 UK Biobank 450k GCST90079722 383065 21010 198.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GIGYF1 Glycated haemoglobin HbA1c (30750) EFO_0004541 3.72e-16 3.72 -16 0.829 0.668 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 114.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC4A1 Glycated haemoglobin HbA1c (30750) EFO_0004541 5.05e-22 5.05 -22 -0.365 -0.458 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 342.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON G6PD Glycated haemoglobin HbA1c (30750) EFO_0004541 2.23e-31 2.23 -31 -0.764 -0.919 EAS HANCESTRO_0009 UK Biobank 450k 2117 2117 82.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RHAG Glycated haemoglobin HbA1c (30750) EFO_0004541 2.89e-36 2.89 -36 -0.7 -0.829 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 176.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ATP11C Glycated haemoglobin HbA1c (30750) EFO_0004541 1.45e-14 1.45 -14 -0.49 -0.657 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 71.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPTA1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.1500000000000001e-43 1.15 -43 -0.608 -0.708 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 294.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON HK1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.36e-13 1.36 -13 -0.144 -0.196 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 1126.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 ICD10 Q61: Cystic kidney disease EFO_0008615 1.55e-93 1.55 -93 16.964 22.233 EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 113.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD2 ICD10 Q61: Cystic kidney disease EFO_0008615 1.95e-69 1.95 -69 380.586 737.228 EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 34.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PKD1 ICD10 Q61: Cystic kidney disease EFO_0008615 2.8400000000000003e-129 2.84 -129 47.614 65.113 EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 104.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC4R Leg fat percentage right (23111) EFO_0007800 3.46e-19 3.46 -19 0.208 0.171 EUR HANCESTRO_0005 UK Biobank 450k GCST90078914 423666 423666 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD1 ICD10 Z94: Transplanted organ and tissue status EFO_0002571 6.55e-53 6.55 -53 36.558 57.952 EUR HANCESTRO_0005 UK Biobank 450k GCST90081418 387906 1305 46.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON PKD1 ICD10 Z94: Transplanted organ and tissue status EFO_0002571 1.85e-16 1.85 -16 2.345 2.872 EUR HANCESTRO_0005 UK Biobank 450k GCST90081418 387906 1305 127.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Systolic blood pressure automated reading (4080) EFO_0006335 3.53e-13 3.53 -13 -0.073 -0.1 EUR HANCESTRO_0005 UK Biobank 450k GCST90079146 408211 408211 4262.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ASXL1 Current tobacco smoking - Yes on most or all days (1239) EFO_0005671 1.3399999999999998e-34 1.34 -34 2.872 3.399 EUR HANCESTRO_0005 UK Biobank 450k GCST90077584 430498 33523 214.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MFRP SphericalEquivalent l started wearing glasses contacts before 40 (RGC) EFO_0004731 1.01e-13 1.01 -13 0.536 0.424 EUR HANCESTRO_0005 UK Biobank 450k GCST90081511 48821 48821 273.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 2.23e-20 2.23 -20 4.664 6.463 EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 58.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 3.14e-20 3.14 -20 4.628 6.411 EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 58.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Weight (23098) EFO_0004338 3.35e-19 3.35 -19 0.162 0.133 EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 3013.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 3.14e-20 3.14 -20 4.628 6.411 EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 58.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Forced vital capacity FVC Best measure (20151) EFO_0004312 4.79e-13 4.79 -13 -0.061 -0.084 EUR HANCESTRO_0005 UK Biobank 450k GCST90078317 322002 322002 3321.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON FLG ChildhoodAsthmaCases vs AllergicDiseaseControls (RGC) MONDO_0005405 1.64e-12 1.64 -12 1.514 1.699 EUR HANCESTRO_0005 UK Biobank 450k GCST90081473 297425 16952 373.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON FLG Non cancer illness code self reported - asthma MONDO_0004979 1.08e-16 1.08 -16 1.244 1.31 EUR HANCESTRO_0005 UK Biobank 450k GCST90077671 331754 50973 1976.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGFALS Impedance of leg left (23108) HP_0000924 2.27e-13 2.27 -13 0.178 0.14 EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 1960.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HGS Forced vital capacity FVC Z score (20257) EFO_0004312 2.55e-14 2.55 -14 0.225 0.179 EUR HANCESTRO_0005 UK Biobank 450k GCST90078389 343302 343302 1655.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS3 Impedance of leg left (23108) HP_0000924 1.97e-21 1.97 -21 -0.137 -0.172 EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 2184.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Impedance of leg left (23108) HP_0000924 2.43e-27 2.43 -27 -0.216 -0.264 EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS17 Impedance of leg left (23108) HP_0000924 2.92e-13 2.92 -13 -0.091 -0.125 EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 2462.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HMCN1 Forced vital capacity FVC Z score (20257) EFO_0004312 1.13e-11 1.13 -11 -0.035 -0.05 EUR HANCESTRO_0005 UK Biobank 450k GCST90078389 343302 343302 17949.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS3 Impedance of leg left (23108) HP_0000924 4.87e-15 4.87 -15 -0.2 -0.267 EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 614.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MSH2 ICD10 Z80.0: Family history of malignant neoplasm of digestive organs EFO_0009640 7.65e-13 7.65 -13 4.742 7.257 EUR HANCESTRO_0005 UK Biobank 450k GCST90081329 385471 9455 35.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MLH1 ICD10 Z80.0: Family history of malignant neoplasm of digestive organs EFO_0009640 6.82e-18 6.82 -18 21.705 43.705 EUR HANCESTRO_0005 UK Biobank 450k GCST90081329 385471 9455 19.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Non cancer illness code self reported - atrial fibrillation EFO_0000275 2e-15 2.0 -15 2.33 2.871 EUR HANCESTRO_0005 UK Biobank 450k GCST90077881 331754 3921 120.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Non cancer illness code self reported - atrial fibrillation EFO_0000275 4.16e-19 4.16 -19 2.799 3.508 EUR HANCESTRO_0005 UK Biobank 450k GCST90077881 331754 3921 108.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Non cancer illness code self reported - atrial fibrillation EFO_0000275 6.26e-13 6.26 -13 4.515 6.808 EUR HANCESTRO_0005 UK Biobank 450k GCST90077881 331754 3921 37.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON MEPE Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 3.4599999999999998e-34 3.46 -34 -0.271 -0.323 EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 1108.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON WNT1 Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 9.53e-16 9.53 -16 -0.356 -0.471 EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 227.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Arm fat free mass right (23121) EFO_0004995 5.14e-20 5.14 -20 -0.053 -0.068 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 5844.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Arm fat free mass right (23121) EFO_0004995 2.51e-62 2.51 -62 0.128 0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 6709.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL7 Corneal resistance factor right (5257) EFO_0010067 5.2e-13 5.2 -13 -0.115 -0.157 EUR HANCESTRO_0005 UK Biobank 450k GCST90079336 105888 105888 1877.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Arm fat free mass right (23121) EFO_0004995 3.4e-36 3.4 -36 0.149 0.129 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 3011.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SCUBE3 Arm fat free mass right (23121) EFO_0004995 4.84e-14 4.84 -14 -0.09 -0.122 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 1216.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN HF (RGC) EFO_0003144 8.55e-30 8.55 -30 2.575 3.032 EUR HANCESTRO_0005 UK Biobank 450k GCST90081485 387050 8159 206.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Arm fat free mass right (23121) EFO_0004995 6.8e-13 6.8 -13 -0.076 -0.105 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 1485.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Arm fat free mass right (23121) EFO_0004995 2.4e-13 2.4 -13 0.416 0.328 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 157.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Standing height (50) EFO_0004339 2.96e-13 2.96 -13 -0.126 -0.173 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 603.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON DTL Standing height (50) EFO_0004339 3.79e-19 3.79 -19 -0.234 -0.299 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 303.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON IGF1R Standing height (50) EFO_0004339 1.57e-19 1.57 -19 -0.106 -0.135 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1508.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CRISPLD1 Standing height (50) EFO_0004339 3.0999999999999997e-24 3.1 -24 -0.144 -0.178 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1084.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IRS1 Standing height (50) EFO_0004339 7.94e-25 7.94 -25 -0.403 -0.498 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 145.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IGF2BP2 Standing height (50) EFO_0004339 9.24e-18 9.24 -18 -0.19 -0.247 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 408.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON FGFR3 Standing height (50) EFO_0004339 1.53e-12 1.53 -12 -0.063 -0.086 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2250.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NF1 Standing height (50) EFO_0004339 2.87e-19 2.87 -19 -0.225 -0.288 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 325.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GHRH Standing height (50) EFO_0004339 5.72e-13 5.72 -13 -0.29 -0.398 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 109.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC27A3 Standing height (50) EFO_0004339 1.14e-11 1.14 -11 0.07 0.054 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 5363.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADAMTS17 Standing height (50) EFO_0004339 1.3099999999999999e-52 1.31 -52 -0.121 -0.139 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 4114.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MIP Non cancer illness code self reported - cataract MONDO_0005129 1.84e-12 1.84 -12 13.901 28.906 EUR HANCESTRO_0005 UK Biobank 450k GCST90077756 331754 8629 16.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADAMTS10 Standing height (50) EFO_0004339 8.270000000000001e-31 8.27 -31 -0.341 -0.411 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 263.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON DDR2 Standing height (50) EFO_0004339 1.28e-12 1.28 -12 -0.407 -0.563 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 54.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IHH Standing height (50) EFO_0004339 1.6500000000000002e-26 1.65 -26 -0.408 -0.5 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 154.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PTPN11 Standing height (50) EFO_0004339 4.69e-15 4.69 -15 -0.185 -0.247 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 340.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IRS1 Standing height (50) EFO_0004339 7.94e-25 7.94 -25 -0.403 -0.498 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 145.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Standing height (50) EFO_0004339 3.14e-24 3.14 -24 0.52 0.436 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 181.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON DDR2 Standing height (50) EFO_0004339 1.28e-12 1.28 -12 -0.407 -0.563 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 54.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON NPR2 Standing height (50) EFO_0004339 3.46e-33 3.46 -33 -0.57 -0.681 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 104.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SERPINH1 Standing height (50) EFO_0004339 7.94e-18 7.94 -18 -0.455 -0.589 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 71.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS17 Standing height (50) EFO_0004339 7.7e-41 7.7 -41 -0.332 -0.389 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 399.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LOXL2 Standing height (50) EFO_0004339 8.18e-12 8.18 -12 0.09 0.07 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 3232.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Standing height (50) EFO_0004339 6.67e-69 6.67 -69 0.204 0.184 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 3061.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CRISPLD2 Standing height (50) EFO_0004339 1.36e-25 1.36 -25 -0.083 -0.102 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 3504.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET1 Standing height (50) EFO_0004339 2.26e-12 2.26 -12 0.658 0.515 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 62.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IHH Standing height (50) EFO_0004339 4.6e-31 4.6 -31 -0.218 -0.263 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 660.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON DTL Standing height (50) EFO_0004339 2.13e-22 2.13 -22 -0.18 -0.225 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 637.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IHH Standing height (50) EFO_0004339 9.83e-13 9.83 -13 -0.426 -0.588 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 50.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON PAPPA2 Standing height (50) EFO_0004339 3.13e-12 3.13 -12 -0.072 -0.1 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1655.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SERPINH1 Standing height (50) EFO_0004339 1.91e-11 1.91 -11 -0.4 -0.565 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 47.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON CNPY2 Standing height (50) EFO_0004339 5.41e-14 5.41 -14 -0.251 -0.339 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 166.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SHOX Standing height (50) EFO_0004339 3.24e-23 3.24 -23 -0.878 -1.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 27.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Standing height (50) EFO_0004339 9.58e-29 9.58 -29 0.512 0.435 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 219.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Standing height (50) EFO_0004339 1.27e-34 1.27 -34 0.692 0.596 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 142.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET1 Standing height (50) EFO_0004339 2.26e-12 2.26 -12 0.658 0.515 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 62.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PAPPA Standing height (50) EFO_0004339 1.06e-12 1.06 -12 -0.077 -0.107 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1503.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NF1 Standing height (50) EFO_0004339 2.87e-19 2.87 -19 -0.225 -0.288 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 325.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON WNT1 Speed of sound through heel right (4122) EFO_0005654 1.7e-11 1.7 -11 -0.328 -0.463 EUR HANCESTRO_0005 UK Biobank 450k GCST90079156 166358 166358 167.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 Z90.4: Acquired absence of other specified parts of digestive tract EFO_0000405 8.15e-13 8.15 -13 13.892 28.553 EUR HANCESTRO_0005 UK Biobank 450k GCST90081392 387855 8508 16.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON APC ICD10 Z90.4: Acquired absence of other specified parts of digestive tract EFO_0000405 1.4400000000000001e-21 1.44 -21 16.973 30.37 EUR HANCESTRO_0005 UK Biobank 450k GCST90081392 387855 8508 26.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MEPE Heel bone mineral density BMD left (4105) EFO_0009270 4.08e-21 4.08 -21 -0.242 -0.305 EUR HANCESTRO_0005 UK Biobank 450k GCST90079152 166186 166186 745.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PRSS56 3mm weak meridian right (5099) EFO_0004731 7.62e-12 7.62 -12 0.577 0.449 EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 188.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 3mm weak meridian right (5099) EFO_0004731 1.62e-18 1.62 -18 0.492 0.402 EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 383.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 3mm weak meridian right (5099) EFO_0004731 3.69e-19 3.69 -19 0.94 0.771 EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 108.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R TAG Obesity (RGC) EFO_0001073 6.22e-13 6.22 -13 4.512 6.802 EUR HANCESTRO_0005 UK Biobank 450k GCST90081522 246639 104086 86.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON OCA2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 6.55e-26 6.55 -26 0.196 0.266 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 36.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MITF Hair colour natural before greying - Dark brown (1747) EFO_0007822 2.31e-12 2.31 -12 0.795 0.848 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 1653.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IL17RA Monocyte percentage (30190) EFO_0007989 1.16e-11 1.16 -11 -0.337 -0.473 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 166.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ARHGAP25 Monocyte percentage (30190) EFO_0007989 4.14e-16 4.14 -16 0.112 0.09 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 6671.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z92.3: Personal history of irradiation EFO_0000352 2.11e-17 2.11 -17 3.833 5.227 EUR HANCESTRO_0005 UK Biobank 450k GCST90081407 387929 4774 61.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPHK1 Monocyte percentage (30190) EFO_0007989 1.11e-12 1.11 -12 -0.058 -0.08 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 6458.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Monocyte percentage (30190) EFO_0007989 6.8400000000000005e-31 6.84 -31 0.312 0.267 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 1529.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON FLT3 Monocyte percentage (30190) EFO_0007989 2.34e-16 2.34 -16 0.267 0.215 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 1180.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IL17RA Monocyte percentage (30190) EFO_0007989 2.2300000000000002e-307 2.23 -307 -0.414 -0.436 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 6105.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A10 Direct bilirubin (30660) EFO_0004570 5.83e-33 5.83 -33 0.434 0.373 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 850.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON RP11-545J16.1 Direct bilirubin (30660) EFO_0004570 8.56e-42 8.56 -42 0.212 0.185 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 3640.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PCSK9 Direct bilirubin (30660) EFO_0004570 2.23e-12 2.23 -12 0.226 0.176 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1047.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A9 Direct bilirubin (30660) EFO_0004570 5.010000000000001e-47 5.01 -47 0.481 0.424 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 963.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON UGT1A7 Direct bilirubin (30660) EFO_0004570 8.06e-27 8.06 -27 0.324 0.274 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1276.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A6 Direct bilirubin (30660) EFO_0004570 9.88e-12 9.88 -12 0.511 0.397 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 245.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Direct bilirubin (30660) EFO_0004570 2.05e-12 2.05 -12 0.808 0.632 SAS HANCESTRO_0006 UK Biobank 450k 8157 8157 95.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A3 Direct bilirubin (30660) EFO_0004570 1.99e-11 1.99 -11 0.185 0.143 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1843.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ATP11C Direct bilirubin (30660) EFO_0004570 5.09e-20 5.09 -20 0.951 0.783 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 60.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 Self Report - breast cancer (20001) EFO_0000305 1.93e-15 1.93 -15 2.159 2.61 EUR HANCESTRO_0005 UK Biobank 450k GCST90077626 39614 10070 273.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 Self Report - breast cancer (20001) EFO_0000305 5.05e-14 5.05 -14 4.909 7.427 EUR HANCESTRO_0005 UK Biobank 450k GCST90077626 39614 10070 81.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 Self Report - breast cancer (20001) EFO_0000305 5.05e-14 5.05 -14 4.909 7.427 EUR HANCESTRO_0005 UK Biobank 450k GCST90077626 39614 10070 81.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 2.31e-17 2.31 -17 8.012 12.962 EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 30.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 7.85e-23 7.85 -23 7.624 11.428 EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 42.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 Self Report - breast cancer (20001) EFO_0000305 5.32e-20 5.32 -20 3.139 4.01 EUR HANCESTRO_0005 UK Biobank 450k GCST90077626 39614 10070 196.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MLH1 ICD10 Z98.0: Intestinal bypass and anastomosis status EFO_0002571 7e-12 7.0 -12 18.183 41.657 EUR HANCESTRO_0005 UK Biobank 450k GCST90081435 387928 2891 12.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON IGF1R Arm predicted mass left (23126) EFO_0004302 1.51e-11 1.51 -11 -0.071 -0.1 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 1485.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Arm predicted mass left (23126) EFO_0004302 1.86e-18 1.86 -18 -0.49 -0.631 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 63.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Arm predicted mass left (23126) EFO_0004302 4.84e-14 4.84 -14 0.339 0.269 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 257.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Arm predicted mass left (23126) EFO_0004302 2.8100000000000003e-21 2.81 -21 -0.065 -0.082 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 4403.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Arm predicted mass left (23126) EFO_0004302 2.77e-22 2.77 -22 0.193 0.16 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Arm predicted mass left (23126) EFO_0004302 3.37e-13 3.37 -13 0.422 0.333 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 157.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Arm predicted mass left (23126) EFO_0004302 4.65e-17 4.65 -17 -0.343 -0.448 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 115.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SCUBE3 Arm predicted mass left (23126) EFO_0004302 7.9e-13 7.9 -13 -0.066 -0.091 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 2062.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Arm predicted mass left (23126) EFO_0004302 1.54e-12 1.54 -12 0.368 0.288 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 197.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GFI1B Platelet distribution width (30110) EFO_0007984 7.76e-14 7.76 -14 0.263 0.209 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1027.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SRSF2 Platelet distribution width (30110) EFO_0007984 1.2300000000000002e-21 1.23 -21 0.766 0.635 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 182.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON DENND2C Platelet distribution width (30110) EFO_0007984 1.6899999999999997e-67 1.69 -67 -0.121 -0.137 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 13496.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FAM65C Platelet distribution width (30110) EFO_0007984 2.92e-14 2.92 -14 -0.179 -0.242 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 814.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CD36 Platelet distribution width (30110) EFO_0007984 1.99e-27 1.99 -27 0.193 0.164 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 3610.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH6 ICD10 C54: Malignant neoplasm of corpus uteri EFO_0007532 1.29e-19 1.29 -19 5.578 8.089 EUR HANCESTRO_0005 UK Biobank 450k GCST90079608 211679 1515 47.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TUBB1 Platelet distribution width (30110) EFO_0007984 2.2300000000000002e-307 2.23 -307 0.513 0.492 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 7839.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GP1BB Platelet distribution width (30110) EFO_0007984 2.5300000000000003e-21 2.53 -21 1.42 1.177 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 52.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TUBB1 Platelet distribution width (30110) EFO_0007984 3.12e-12 3.12 -12 0.981 0.766 SAS HANCESTRO_0006 UK Biobank 450k 9952 9952 90.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NPC1 Platelet distribution width (30110) EFO_0007984 1.66e-11 1.66 -11 0.157 0.122 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 2745.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TUBB1 Platelet distribution width (30110) EFO_0007984 2.2300000000000002e-307 2.23 -307 1.953 1.862 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 382.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TADA1 Platelet distribution width (30110) EFO_0007984 5.14e-12 5.14 -12 0.435 0.339 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 339.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GP1BB Platelet distribution width (30110) EFO_0007984 2.5300000000000003e-21 2.53 -21 1.42 1.177 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 52.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON NPC1 Platelet distribution width (30110) EFO_0007984 1.66e-11 1.66 -11 0.157 0.122 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 2745.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH6 ICD10 C54: Malignant neoplasm of corpus uteri EFO_0007532 2.95e-15 2.95 -15 3.888 5.447 EUR HANCESTRO_0005 UK Biobank 450k GCST90079608 211679 1515 52.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Platelet distribution width (30110) EFO_0007984 4.3700000000000004e-32 4.37 -32 0.291 0.249 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1794.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MSH6 ICD10 C54: Malignant neoplasm of corpus uteri EFO_0007532 9.96e-14 9.96 -14 5.137 7.906 EUR HANCESTRO_0005 UK Biobank 450k GCST90079608 211679 1515 34.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ADCK3 Mean corpuscular haemoglobin (30050) EFO_0004527 1.11e-15 1.11 -15 -0.123 -0.162 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1905.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON OR51V1 Mean corpuscular haemoglobin (30050) EFO_0004527 1.69e-14 1.69 -14 -0.625 -0.839 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 83.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ATR Mean corpuscular haemoglobin (30050) EFO_0004527 1.41e-15 1.41 -15 -0.087 -0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 3756.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBA2 Mean corpuscular haemoglobin (30050) EFO_0004527 4.22e-20 4.22 -20 -1.021 -1.299 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 39.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MED17 Mean corpuscular haemoglobin (30050) EFO_0004527 1.7100000000000003e-21 1.71 -21 -0.427 -0.538 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 243.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 4.45e-15 4.45 -15 -1.548 -2.064 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TFR2 Mean corpuscular haemoglobin (30050) EFO_0004527 1.19e-28 1.19 -28 0.36 0.306 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1024.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 4.45e-15 4.45 -15 -1.548 -2.064 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ATR Mean corpuscular haemoglobin (30050) EFO_0004527 1.41e-15 1.41 -15 -0.087 -0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 3756.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RNF20 Mean corpuscular haemoglobin (30050) EFO_0004527 5.63e-13 5.63 -13 -0.302 -0.414 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 235.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON RGS11 Mean corpuscular haemoglobin (30050) EFO_0004527 7.57e-15 7.57 -15 -0.431 -0.576 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 224.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SF3B1 Mean corpuscular haemoglobin (30050) EFO_0004527 4.3e-20 4.3 -20 0.495 0.408 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 394.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBA2 Mean corpuscular haemoglobin (30050) EFO_0004527 4.22e-20 4.22 -20 -1.021 -1.299 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 39.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TFRC Mean corpuscular haemoglobin (30050) EFO_0004527 5.68e-55 5.68 -55 -1.294 -1.479 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 87.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CHTF18 Mean corpuscular haemoglobin (30050) EFO_0004527 6.3e-16 6.3 -16 0.34 0.274 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 682.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON KLF1 Mean corpuscular haemoglobin (30050) EFO_0004527 7.76e-21 7.76 -21 -0.756 -0.956 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 75.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON HSPA9 Mean corpuscular haemoglobin (30050) EFO_0004527 1.3399999999999999e-24 1.34 -24 -0.478 -0.592 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 232.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SF3B1 Mean corpuscular haemoglobin (30050) EFO_0004527 4.3e-20 4.3 -20 0.495 0.408 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 394.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON POLE Mean corpuscular haemoglobin (30050) EFO_0004527 1.8e-23 1.8 -23 0.147 0.123 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 5209.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TMPRSS6 Mean corpuscular haemoglobin (30050) EFO_0004527 5.649999999999999e-45 5.65 -45 -0.565 -0.656 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 361.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON KLF1 Mean corpuscular haemoglobin (30050) EFO_0004527 2.0800000000000002e-29 2.08 -29 -0.826 -1.001 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 99.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON KLF1 Mean corpuscular haemoglobin (30050) EFO_0004527 6.54e-96 6.54 -96 -1.053 -1.162 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 250.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 C79: Secondary malignant neoplasm of other and unspecified sites EFO_0009812 9.92e-20 9.92 -20 2.874 3.609 EUR HANCESTRO_0005 UK Biobank 450k GCST90079629 387728 5376 106.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR ICD10 I20.9: Angina pectoris, unspecified EFO_0003913 6e-13 6.0 -13 2.003 2.42 EUR HANCESTRO_0005 UK Biobank 450k GCST90079967 387883 18859 149.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Non cancer illness code self reported - atrial fibrillation/ICD10 I48 EFO_0000275 3.12e-15 3.12 -15 2.351 2.908 EUR HANCESTRO_0005 UK Biobank 450k GCST90077882 329052 3763 116.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Trunk fat free mass (23129) EFO_0004995 3.33e-33 3.33 -33 0.335 0.288 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 554.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LRP5 Speed of sound through heel (3146) EFO_0005654 1.68e-13 1.68 -13 -0.442 -0.602 EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 120.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PRPH2 Eye problems disorders - Macular degeneration (6148) EFO_0009606 3.99e-12 3.99 -12 83.554 291.705 EUR HANCESTRO_0005 UK Biobank 450k GCST90079434 37798 4185 12.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PAPPA2 Trunk fat free mass (23129) EFO_0004995 1.5e-15 1.5 -15 -0.085 -0.112 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 1620.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MEPE Speed of sound through heel (3146) EFO_0005654 1.08e-35 1.08 -35 -0.298 -0.354 EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 985.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Trunk fat free mass (23129) EFO_0004995 7.15e-17 7.15 -17 0.495 0.401 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 138.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GHRH Trunk fat free mass (23129) EFO_0004995 1.9e-15 1.9 -15 -0.282 -0.375 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 143.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Trunk fat free mass (23129) EFO_0004995 1.26e-18 1.26 -18 -0.051 -0.066 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 5841.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Trunk fat free mass (23129) EFO_0004995 1.05e-12 1.05 -12 0.385 0.302 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 177.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON IRS1 Trunk fat free mass (23129) EFO_0004995 1.9e-25 1.9 -25 -0.405 -0.499 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 140.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SCUBE3 Trunk fat free mass (23129) EFO_0004995 1.02e-16 1.02 -16 -0.103 -0.135 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 1216.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SCUBE3 Trunk fat free mass (23129) EFO_0004995 1.86e-11 1.86 -11 -0.118 -0.167 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 518.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Trunk fat free mass (23129) EFO_0004995 2.55e-16 2.55 -16 0.457 0.369 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 157.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Trunk fat free mass (23129) EFO_0004995 2.55e-16 2.55 -16 0.457 0.369 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 157.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MEPE Speed of sound through heel (3146) EFO_0005654 8.51e-14 8.51 -14 -0.231 -0.313 EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 453.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SMAD6 Speed of sound through heel (3146) EFO_0005654 1.79e-12 1.79 -12 -0.309 -0.428 EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 215.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Trunk fat free mass (23129) EFO_0004995 1.71e-14 1.71 -14 -0.084 -0.112 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 1485.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Arm predicted mass right (23122) EFO_0004302 2.43e-13 2.43 -13 0.441 0.348 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 138.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ZFAT Arm predicted mass right (23122) EFO_0004302 1.31e-62 1.31 -62 0.128 0.114 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 6709.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Forced expiratory volume in 1 second FEV1 (3063) EFO_0004314 4.96e-12 4.96 -12 -0.054 -0.075 EUR HANCESTRO_0005 UK Biobank 450k GCST90079017 395451 395451 4124.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Arm predicted mass right (23122) EFO_0004302 2.44e-16 2.44 -16 -0.256 -0.336 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 185.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ACAN Arm predicted mass right (23122) EFO_0004302 6.12e-17 6.12 -17 -0.538 -0.703 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 44.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON MC4R Arm predicted mass right (23122) EFO_0004302 2.59e-20 2.59 -20 0.18 0.149 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 Mothers age at death (3526) EFO_0007796 2.28e-18 2.28 -18 -0.208 -0.269 EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 970.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 Mothers age at death (3526) EFO_0007796 3.99e-12 3.99 -12 -0.107 -0.149 EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 1988.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Arm predicted mass right (23122) EFO_0004302 1.11e-13 1.11 -13 0.547 0.432 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 92.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ZFAT Forced expiratory volume in 1 second FEV1 (3063) EFO_0004314 2.76e-15 2.76 -15 0.087 0.07 EUR HANCESTRO_0005 UK Biobank 450k GCST90079017 395451 395451 6256.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NPC1L1 Cholesterol (30690) EFO_0004574 2.09e-18 2.09 -18 -0.101 -0.131 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 3794.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APOB Cholesterol (30690) EFO_0004574 1.3400000000000001e-148 1.34 -148 -0.445 -0.481 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 2472.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANGPTL3 Cholesterol (30690) EFO_0004574 2.51e-15 2.51 -15 -0.271 -0.36 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 410.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ALB Cholesterol (30690) EFO_0004574 1.39e-16 1.39 -16 0.772 0.624 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 147.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 2.2300000000000002e-307 2.23 -307 -1.285 -1.351 EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 720.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 6.29e-14 6.29 -14 -1.466 -1.984 EAS HANCESTRO_0009 UK Biobank 450k 2108 2108 13.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON DNMT3A Platelet count (30080) EFO_0004309 1.22e-11 1.22 -11 0.108 0.084 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 5082.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TADA1 Platelet count (30080) EFO_0004309 2.17e-13 2.17 -13 -0.256 -0.35 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 339.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TPM4 Platelet count (30080) EFO_0004309 8.69e-14 8.69 -14 -0.891 -1.208 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 29.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON RUNX1 Platelet count (30080) EFO_0004309 1.11e-13 1.11 -13 -0.931 -1.265 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 26.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PTPRH Platelet count (30080) EFO_0004309 5.1699999999999996e-30 5.17 -30 -0.135 -0.163 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 3746.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PROS1 ICD10 I26.9: Pulmonary embolism without acute cor pulmonale MONDO_0004596 1.72e-13 1.72 -13 10.124 18.739 EUR HANCESTRO_0005 UK Biobank 450k GCST90079983 387510 5096 20.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 Platelet count (30080) EFO_0004309 1.64e-17 1.64 -17 -0.136 -0.176 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1779.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Platelet count (30080) EFO_0004309 4.48e-13 4.48 -13 -0.195 -0.267 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 558.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GP1BA Platelet count (30080) EFO_0004309 1.8200000000000001e-47 1.82 -47 -0.818 -0.946 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 178.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TNFRSF13B Platelet count (30080) EFO_0004309 3.56e-38 3.56 -38 -0.114 -0.134 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 7148.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 1.4099999999999999e-24 1.41 -24 -0.847 -1.047 AFR HANCESTRO_0010 UK Biobank 450k 8544 8544 83.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 1.4099999999999999e-24 1.41 -24 -0.847 -1.047 AFR HANCESTRO_0010 UK Biobank 450k 8544 8544 83.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ITGB3 Platelet count (30080) EFO_0004309 2.52e-19 2.52 -19 -0.168 -0.215 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1329.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GP1BA Platelet count (30080) EFO_0004309 3.03e-47 3.03 -47 -0.362 -0.419 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 902.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CALR Platelet count (30080) EFO_0004309 4.02e-14 4.02 -14 0.327 0.26 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 647.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GP1BB Platelet count (30080) EFO_0004309 2.85e-44 2.85 -44 -1.447 -1.683 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 52.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PTPRH Platelet count (30080) EFO_0004309 2.7700000000000004e-31 2.77 -31 -0.136 -0.164 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 3852.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON JAK2 Platelet count (30080) EFO_0004309 1.5100000000000001e-27 1.51 -27 0.891 0.755 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 159.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Platelet count (30080) EFO_0004309 1.45e-18 1.45 -18 -0.152 -0.196 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1532.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 ICD10 D70: Neutropenia MONDO_0001475 4.42e-19 4.42 -19 3.546 4.683 EUR HANCESTRO_0005 UK Biobank 450k GCST90079716 387075 4407 75.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 ICD10 D70: Neutropenia MONDO_0001475 5.05e-16 5.05 -16 3.494 4.727 EUR HANCESTRO_0005 UK Biobank 450k GCST90079716 387075 4407 63.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PKD1 ICD10 Z99: Dependence on enabling machines and devices, not elsewhere classified EFO_0002571 3.69e-21 3.69 -21 9.367 14.903 EUR HANCESTRO_0005 UK Biobank 450k GCST90081445 385473 3699 34.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON TECTA Hearing difficulty problems background noise - Yes (2257) EFO_0007616 3.71e-12 3.71 -12 1.226 1.299 EUR HANCESTRO_0005 UK Biobank 450k GCST90078878 422872 167296 2214.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TECTA Hearing difficulty problems - Yes (2247) EFO_0007616 1.44e-16 1.44 -16 1.302 1.386 EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 1601.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TNRC6B Hand grip strength left (46) EFO_0006941 3.54e-12 3.54 -12 -0.336 -0.467 EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 99.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR ICD10 E78: Disorders of lipoprotein metabolism and other lipidemias Orphanet_79062 1.8e-17 1.8 -17 3.435 4.564 EUR HANCESTRO_0005 UK Biobank 450k GCST90079768 372199 51365 94.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR ICD10 E78: Disorders of lipoprotein metabolism and other lipidemias Orphanet_79062 1.38e-62 1.38 -62 3.15 3.604 EUR HANCESTRO_0005 UK Biobank 450k GCST90079768 372199 51365 404.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON EP400 Hand grip strength left (46) EFO_0006941 6.33e-13 6.33 -13 -0.237 -0.325 EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 219.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TNRC6B Hand grip strength left (46) EFO_0006941 2.85e-12 2.85 -12 -0.441 -0.613 EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 58.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON GIGYF1 Hand grip strength left (46) EFO_0006941 3.14e-13 3.14 -13 -0.284 -0.388 EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 158.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR ICD10 E78: Disorders of lipoprotein metabolism and other lipidemias Orphanet_79062 1.8e-17 1.8 -17 3.435 4.564 EUR HANCESTRO_0005 UK Biobank 450k GCST90079768 372199 51365 94.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Hand grip strength left (46) EFO_0006941 6.26e-15 6.26 -15 -0.076 -0.101 EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 2693.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON KDM5B Hand grip strength left (46) EFO_0006941 6.42e-14 6.42 -14 -0.237 -0.321 EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 245.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TNFRSF17 Total protein (30860) EFO_0004536 5.8e-12 5.8 -12 -0.219 -0.306 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 454.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IQGAP2 Total protein (30860) EFO_0004536 5.84e-17 5.84 -17 -0.097 -0.127 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 3936.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ALB Total protein (30860) EFO_0004536 8.28e-38 8.28 -38 -0.889 -1.049 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 134.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANKRD12 Total protein (30860) EFO_0004536 2.54e-12 2.54 -12 -0.384 -0.534 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 153.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ANKRD12 Total protein (30860) EFO_0004536 1.81e-20 1.81 -20 -0.411 -0.521 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 282.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ALB Total protein (30860) EFO_0004536 8.28e-38 8.28 -38 -0.889 -1.049 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 134.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MYBPC3 ICD10 I42: Cardiomyopathy EFO_0000318 4.51e-25 4.51 -25 31.625 60.852 EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 22.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON NFKBIE ICD10 C91: Lymphoid leukemia EFO_0004289 1.39e-13 1.39 -13 40.445 107.803 EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 10.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MYD88 ICD10 C91: Lymphoid leukemia EFO_0004289 6.71e-19 6.71 -19 26.458 54.52 EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 17.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN ICD10 I42: Cardiomyopathy EFO_0000318 4.42e-52 4.42 -52 6.375 8.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 117.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 Type of Cancer: Malignant neoplasm of breast (40006) EFO_0003869 3.8199999999999995e-24 3.82 -24 3.365 4.254 EUR HANCESTRO_0005 UK Biobank 450k GCST90079108 41005 12472 177.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 Type of Cancer: Malignant neoplasm of breast (40006) EFO_0003869 7.49e-12 7.49 -12 3.422 4.866 EUR HANCESTRO_0005 UK Biobank 450k GCST90079108 41005 12472 79.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MSH2 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 7.729999999999999e-23 7.73 -23 21.42 39.442 EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 25.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MSH2 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 3.56e-12 3.56 -12 29.079 75.179 EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 11.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON BRCA2 Type of Cancer: Malignant neoplasm of breast (40006) EFO_0003869 8.170000000000001e-21 8.17 -21 3.325 4.277 EUR HANCESTRO_0005 UK Biobank 450k GCST90079108 41005 12472 153.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MSH6 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 1.62e-12 1.62 -12 3.755 5.42 EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 44.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CHEK2 Type of Cancer: Malignant neoplasm of breast (40006) EFO_0003869 2.45e-12 2.45 -12 1.704 1.977 EUR HANCESTRO_0005 UK Biobank 450k GCST90079108 41005 12472 349.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 3mm weak meridian left (5096) EFO_0004731 1.41e-14 1.41 -14 0.431 0.343 EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 404.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC45A2 Skin colour - Very fair (1717) EFO_0003784 3.43e-25 3.43 -25 2.877 3.513 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 163.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON WNT1 Heel bone mineral density BMD right (4124) EFO_0009270 1.23e-12 1.23 -12 -0.349 -0.482 EUR HANCESTRO_0005 UK Biobank 450k GCST90079158 166266 166266 167.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL7 3mm weak meridian left (5096) EFO_0004731 1.63e-13 1.63 -13 0.196 0.155 EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 1843.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TYRP1 Skin colour - Very fair (1717) EFO_0003784 9.63e-21 9.63 -21 2.139 2.509 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 229.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACSF3 Skin colour - Very fair (1717) EFO_0003784 3.65e-26 3.65 -26 1.459 1.565 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 1033.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TYR Skin colour - Very fair (1717) EFO_0003784 3.4399999999999995e-48 3.44 -48 2.371 2.663 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 447.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON OCA2 Skin colour - Very fair (1717) EFO_0003784 7.45e-28 7.45 -28 5.326 7.186 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 85.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON OCA2 Skin colour - Very fair (1717) EFO_0003784 7.890000000000001e-21 7.89 -21 3.828 5.07 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 87.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON OCA2 Skin colour - Very fair (1717) EFO_0003784 4.1e-117 4.1 -117 3.17 3.497 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 682.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC1R Skin colour - Very fair (1717) EFO_0003784 5.290000000000001e-231 5.29 -231 3.28 3.524 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 1257.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC45A2 Skin colour - Very fair (1717) EFO_0003784 4.4e-67 4.4 -67 2.547 2.831 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 554.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC1R Skin colour - Very fair (1717) EFO_0003784 5.39e-19 5.39 -19 3.343 4.361 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 92.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON INSC Heel bone mineral density BMD right (4124) EFO_0009270 8.34e-15 8.34 -15 0.121 0.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90079158 166266 166266 5119.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 3mm weak meridian left (5096) EFO_0004731 1.29e-18 1.29 -18 0.923 0.755 EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 109.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR ICD10 E78.0: Pure hypercholesterolemia HP_0003124 2.0899999999999997e-23 2.09 -23 3.709 4.799 EUR HANCESTRO_0005 UK Biobank 450k GCST90079766 378271 45730 112.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC45A2 Hair colour natural before greying - Blonde (1747) EFO_0007822 3.93e-158 3.93 -158 3.568 3.916 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 866.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON OCA2 Hair colour natural before greying - Blonde (1747) EFO_0007822 2.3799999999999998e-45 2.38 -45 7.065 9.266 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 123.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TADA1 Mean platelet thrombocyte volume (30100) EFO_0004584 5.77e-17 5.77 -17 0.48 0.389 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 339.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TYRP1 Hair colour natural before greying - Blonde (1747) EFO_0007822 1.8e-15 1.8 -15 6.364 10.041 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 42.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON OCA2 Hair colour natural before greying - Blonde (1747) EFO_0007822 2.2300000000000002e-307 2.23 -307 3.372 3.594 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 2980.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IQGAP2 Mean platelet thrombocyte volume (30100) EFO_0004584 3.06e-300 3.06 -300 0.339 0.322 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 9656.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IQGAP2 Mean platelet thrombocyte volume (30100) EFO_0004584 1.8700000000000001e-97 1.87 -97 0.73 0.667 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 708.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TPM4 Mean platelet thrombocyte volume (30100) EFO_0004584 1.43e-12 1.43 -12 1.19 0.932 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 41.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON EXOC3L4 Mean platelet thrombocyte volume (30100) EFO_0004584 2.48e-36 2.48 -36 -0.344 -0.408 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 676.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON DIAPH1 Mean platelet thrombocyte volume (30100) EFO_0004584 1.26e-12 1.26 -12 0.527 0.413 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 212.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PADI3 Hair colour natural before greying - Blonde (1747) EFO_0007822 1.04e-13 1.04 -13 1.193 1.25 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 2446.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Weight (21002) EFO_0004338 2.17e-16 2.17 -16 0.582 0.47 EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 202.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TPM4 Mean platelet thrombocyte volume (30100) EFO_0004584 1.43e-12 1.43 -12 1.19 0.932 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 41.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TMCC2 Mean platelet thrombocyte volume (30100) EFO_0004584 9.55e-13 9.55 -13 -0.134 -0.185 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1090.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC45A2 Hair colour natural before greying - Blonde (1747) EFO_0007822 5.26e-63 5.26 -63 4.601 5.501 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 254.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TUBB1 Mean platelet thrombocyte volume (30100) EFO_0004584 1.57e-21 1.57 -21 1.027 0.852 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 89.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ARHGAP10 Mean platelet thrombocyte volume (30100) EFO_0004584 4.8e-15 4.8 -15 0.206 0.165 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1593.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GP1BB Mean platelet thrombocyte volume (30100) EFO_0004584 1.2599999999999999e-30 1.26 -30 2.259 1.93 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 25.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GFI1B Mean platelet thrombocyte volume (30100) EFO_0004584 5.4000000000000005e-58 5.4 -58 0.303 0.27 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 2574.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON OCA2 Hair colour natural before greying - Blonde (1747) EFO_0007822 2.5399999999999997e-23 2.54 -23 6.993 10.257 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 62.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PDE3B Weight (21002) EFO_0004338 6.07e-14 6.07 -14 0.169 0.134 EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 2093.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CKAP2L Mean platelet thrombocyte volume (30100) EFO_0004584 3.92e-25 3.92 -25 -0.403 -0.497 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 311.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC12A9 Hair colour natural before greying - Blonde (1747) EFO_0007822 8.92e-41 8.92 -41 2.261 2.548 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 454.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TRIM58 Mean platelet thrombocyte volume (30100) EFO_0004584 7.13e-15 7.13 -15 -0.053 -0.07 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 9103.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON RHOF Mean platelet thrombocyte volume (30100) EFO_0004584 4.65e-17 4.65 -17 0.734 0.595 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 150.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GCK T2D New Strict CC (RGC) MONDO_0005148 5.08e-20 5.08 -20 34.58 73.791 EUR HANCESTRO_0005 UK Biobank 450k GCST90081517 352271 11970 20.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CTSD Aspartate aminotransferase (30650) EFO_0004736 1.42e-11 1.42 -11 0.33 0.256 EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 577.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Whole body water mass (23102) EFO_0009805 4.49e-38 4.49 -38 0.153 0.133 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 3013.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Whole body water mass (23102) EFO_0009805 1.77e-16 1.77 -16 0.36 0.291 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 257.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R Whole body water mass (23102) EFO_0009805 7.44e-15 7.44 -15 -0.085 -0.114 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 1485.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Whole body water mass (23102) EFO_0009805 5.42e-27 5.42 -27 0.18 0.153 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 1595.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Whole body water mass (23102) EFO_0009805 9.16e-21 9.16 -21 -0.175 -0.222 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 568.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON IGFALS Whole body water mass (23102) EFO_0009805 1.82e-11 1.82 -11 -0.044 -0.063 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 3693.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SCUBE3 Whole body water mass (23102) EFO_0009805 8.07e-14 8.07 -14 -0.069 -0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 2062.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Whole body water mass (23102) EFO_0009805 1.77e-16 1.77 -16 0.36 0.291 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 257.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GCK ICD10 E11.9: Type 2 diabetes mellitus without complications MONDO_0005148 4.43e-17 4.43 -17 18.706 37.046 EUR HANCESTRO_0005 UK Biobank 450k GCST90079741 385838 26590 24.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PKD1 Urea (30670) EFO_0009795 3.53e-29 3.53 -29 0.688 0.586 EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 311.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HNF1A TAG ProbableT2D (RGC) MONDO_0005148 1.15e-11 1.15 -11 7.193 12.716 EUR HANCESTRO_0005 UK Biobank 450k GCST90081526 426342 17719 23.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GCK TAG ProbableT2D (RGC) MONDO_0005148 1.4199999999999999e-25 1.42 -25 6.118 8.592 EUR HANCESTRO_0005 UK Biobank 450k GCST90081526 426342 17719 64.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC22A12 Urate (30880) EFO_0004531 2.2300000000000002e-307 2.23 -307 -0.953 -0.985 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 2246.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC22A12 Urate (30880) EFO_0004531 4.5299999999999993e-23 4.53 -23 -1.175 -1.466 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 28.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON COL4A4 Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 8.39e-85 8.39 -85 0.975 0.886 EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 447.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC2A9 Urate (30880) EFO_0004531 1.03e-41 1.03 -41 -0.772 -0.902 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 148.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC22A12 Urate (30880) EFO_0004531 6.81e-142 6.81 -142 -1.19 -1.289 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 238.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GCK ICD10 E11.9: Type 2 diabetes mellitus without complications MONDO_0005148 5.08e-14 5.08 -14 9.639 17.384 EUR HANCESTRO_0005 UK Biobank 450k GCST90079741 385838 26590 26.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON PRPSAP1 Urate (30880) EFO_0004531 1.04e-12 1.04 -12 0.216 0.169 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 1085.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PDZK1 Urate (30880) EFO_0004531 7.14e-21 7.14 -21 -0.405 -0.512 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 206.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC22A11 Urate (30880) EFO_0004531 2.18e-20 2.18 -20 0.134 0.11 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 4365.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Y43.3: Adverse effects in the therapeutic use of other antineoplastic drugs (Y43.3) EFO_0000546 5.15e-13 5.15 -13 4.532 6.829 EUR HANCESTRO_0005 UK Biobank 450k GCST90081150 387930 2845 36.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Sitting height (20015) EFO_0011011 5.25e-13 5.25 -13 -0.067 -0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 2702.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ZFAT Sitting height (20015) EFO_0011011 1.1e-38 1.1 -38 0.18 0.156 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 3061.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB ICD10 D56: Thalassemia 1.2999999999999999e-46 1.3 -46 63.155 111.312 SAS HANCESTRO_0006 UK Biobank 450k 9238 112 43.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SCUBE3 Sitting height (20015) EFO_0011011 1.58e-14 1.58 -14 -0.372 -0.499 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 105.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC13A1 Sitting height (20015) EFO_0011011 6.2e-14 6.2 -14 -0.061 -0.082 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 3713.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 Sitting height (20015) EFO_0011011 1.66e-11 1.66 -11 0.287 0.222 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 403.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB ICD10 D56: Thalassemia 1.2999999999999999e-46 1.3 -46 63.155 111.312 SAS HANCESTRO_0006 UK Biobank 450k 9238 112 43.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NPR3 Sitting height (20015) EFO_0011011 1.55e-12 1.55 -12 0.084 0.066 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 5066.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB ICD10 D56: Thalassemia 1.2999999999999999e-46 1.3 -46 63.155 111.312 SAS HANCESTRO_0006 UK Biobank 450k 9238 112 43.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IRS1 Leg predicted mass left (23118) EFO_0004302 1.2e-16 1.2 -16 -0.313 -0.41 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 140.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SCUBE3 Sitting height (20015) EFO_0011011 2.26e-21 2.26 -21 -0.219 -0.276 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 526.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACAN Sitting height (20015) EFO_0011011 3.0800000000000004e-37 3.08 -37 -0.664 -0.785 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 116.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NRK Sitting height (20015) EFO_0011011 1.37e-11 1.37 -11 0.382 0.296 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 148.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GHRH Sitting height (20015) EFO_0011011 2.58e-14 2.58 -14 -0.31 -0.417 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 146.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NRK Sitting height (20015) EFO_0011011 1.37e-11 1.37 -11 0.382 0.296 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 148.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Leg predicted mass left (23118) EFO_0004302 1.62e-13 1.62 -13 -0.062 -0.084 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 2642.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SCUBE3 Leg predicted mass left (23118) EFO_0004302 1.05e-12 1.05 -12 -0.087 -0.12 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 1216.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB ICD10 D56: Thalassemia 1.2999999999999999e-46 1.3 -46 63.155 111.312 SAS HANCESTRO_0006 UK Biobank 450k 9238 112 43.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PDE3B Sitting height (20015) EFO_0011011 5.290000000000001e-21 5.29 -21 0.164 0.136 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 2097.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON COL1A1 Sitting height (20015) EFO_0011011 8.93e-12 8.93 -12 -0.38 -0.533 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 72.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON COL1A1 Sitting height (20015) EFO_0011011 1.56e-11 1.56 -11 -0.298 -0.42 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 113.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ACAN Leg predicted mass left (23118) EFO_0004302 2.1e-14 2.1 -14 -0.5 -0.672 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 44.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON MLH1 ICD10 Z08: Encounter for follow-up examination after completed treatment for malignant neoplasm EFO_0004542 4.6899999999999996e-24 4.69 -24 44.898 93.83 EUR HANCESTRO_0005 UK Biobank 450k GCST90081200 387917 6079 20.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MLH1 ICD10 Z08: Encounter for follow-up examination after completed treatment for malignant neoplasm EFO_0004542 1.4e-16 1.4 -16 16.767 32.722 EUR HANCESTRO_0005 UK Biobank 450k GCST90081200 387917 6079 19.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON BRCA1 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 3.5099999999999994e-23 3.51 -23 6.758 9.858 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 51.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ATM ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 1.59e-11 1.59 -11 2.681 3.571 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 68.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 4.19e-44 4.19 -44 9.387 12.864 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 81.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 1.0600000000000001e-66 1.06 -66 6.539 8.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 161.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PALB2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 2.08e-26 2.08 -26 5.348 7.284 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 72.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ATM ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 1.59e-11 1.59 -11 2.681 3.571 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 68.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON RGS11 Mean corpuscular volume (30040) EFO_0004526 2.01e-12 2.01 -12 -0.397 -0.551 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 224.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TFR2 Mean corpuscular volume (30040) EFO_0004526 1.09e-27 1.09 -27 0.195 0.166 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 3379.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean corpuscular volume (30040) EFO_0004526 8.8e-232 8.8 -232 -2.72 -2.894 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 98.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON KLF1 Mean corpuscular volume (30040) EFO_0004526 5.799999999999999e-75 5.8 -75 -0.775 -0.868 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 348.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ATR Mean corpuscular volume (30040) EFO_0004526 3.06e-14 3.06 -14 -0.184 -0.247 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 737.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON RTEL1 Mean corpuscular volume (30040) EFO_0004526 1.2e-20 1.2 -20 0.237 0.196 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1760.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean corpuscular volume (30040) EFO_0004526 6.05e-108 6.05 -108 -2.018 -2.215 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CHEK2 Mean corpuscular volume (30040) EFO_0004526 7.31e-12 7.31 -12 -0.082 -0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 2756.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON E2F4 Mean corpuscular volume (30040) EFO_0004526 4.66e-24 4.66 -24 2.174 1.821 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 24.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MED17 Mean corpuscular volume (30040) EFO_0004526 8.03e-15 8.03 -15 -0.328 -0.439 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 243.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON KLF1 Mean corpuscular volume (30040) EFO_0004526 3.02e-85 3.02 -85 -0.984 -1.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 250.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBA2 Mean corpuscular volume (30040) EFO_0004526 1.13e-20 1.13 -20 -1.04 -1.317 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 39.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Arm fat free mass left (23125) EFO_0004995 1.06e-22 1.06 -22 0.221 0.184 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Arm fat free mass left (23125) EFO_0004995 7.08e-16 7.08 -16 -0.258 -0.341 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 185.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON MC4R Arm fat free mass left (23125) EFO_0004995 1.42e-22 1.42 -22 0.195 0.162 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IRS1 Arm fat free mass left (23125) EFO_0004995 1.24e-19 1.24 -19 -0.347 -0.442 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 140.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean corpuscular volume (30040) EFO_0004526 5.16e-22 5.16 -22 -1.696 -2.128 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 21.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN ICD10 I34.0: Nonrheumatic mitral (valve) insufficiency EFO_0009557 1.02e-11 1.02 -11 3.022 4.157 EUR HANCESTRO_0005 UK Biobank 450k GCST90079991 387332 2987 54.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN ICD10 I34.0: Nonrheumatic mitral (valve) insufficiency EFO_0009557 8.28e-12 8.28 -12 4.722 7.37 EUR HANCESTRO_0005 UK Biobank 450k GCST90079991 387332 2987 31.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON TTN Pulse rate (4194) EFO_0004326 6.910000000000001e-21 6.91 -21 0.266 0.22 EUR HANCESTRO_0005 UK Biobank 450k GCST90079160 173103 173103 1734.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOC3 LipidLowering Med (RGC) EFO_0007010 5.25e-16 5.25 -16 0.583 0.664 EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 280.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APOB LipidLowering Med (RGC) EFO_0007010 1.41e-21 1.41 -21 0.267 0.35 EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 45.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 LipidLowering Med (RGC) EFO_0007010 1.17e-14 1.17 -14 0.484 0.582 EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 129.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 LipidLowering Med (RGC) EFO_0007010 2.14e-16 2.14 -16 0.317 0.417 EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 47.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HSPA9 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.5e-68 2.5 -68 1.181 1.062 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 232.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CEBPE Monocyte count (30130) EFO_0005091 3.57e-12 3.57 -12 0.096 0.075 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 6983.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PLD1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.73e-131 1.73 -131 0.245 0.227 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 10087.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SEC23B Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.86e-23 2.86 -23 0.37 0.309 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 880.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.75e-114 1.75 -114 2.307 2.124 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 98.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.24e-26 2.24 -26 0.187 0.158 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3860.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NPC1L1 Apolipoprotein B (30640) EFO_0004615 4.52e-14 4.52 -14 -0.083 -0.113 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 3764.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TFR2 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.58e-12 2.58 -12 -0.145 -0.202 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1024.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC12A7 Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.85e-17 5.85 -17 -0.122 -0.16 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 2370.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CALR Red blood cell erythrocyte distribution width (30070) EFO_0009188 4.63e-18 4.63 -18 1.165 0.95 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 71.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SUPT5H Red blood cell erythrocyte distribution width (30070) EFO_0009188 7.69e-15 7.69 -15 2.062 1.647 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 19.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON SEC23B Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.04e-22 1.04 -22 0.27 0.225 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1618.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOB Apolipoprotein B (30640) EFO_0004615 2.2300000000000002e-307 2.23 -307 -1.602 -1.685 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 474.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APOB Apolipoprotein B (30640) EFO_0004615 6e-133 6.0 -133 -0.439 -0.478 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 2242.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON EPB41 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.87e-19 1.87 -19 0.754 0.619 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 182.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SUPT5H Red blood cell erythrocyte distribution width (30070) EFO_0009188 7.18e-15 7.18 -15 1.671 1.335 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 29.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR ICD10 Z95: Presence of cardiac and vascular implants and grafts EFO_0002571 2.34e-12 2.34 -12 2.06 2.522 EUR HANCESTRO_0005 UK Biobank 450k GCST90081425 387795 16113 132.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TMPRSS6 Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.440000000000001e-27 5.44 -27 0.588 0.497 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 400.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON CD36 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.66e-19 1.66 -19 0.232 0.191 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1930.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 3.2200000000000005e-64 3.22 -64 2.067 1.853 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TFRC Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.69e-15 1.69 -15 0.508 0.407 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 326.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.1200000000000001e-22 1.12 -22 2.491 2.076 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 19.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON HSPA9 Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.77e-16 5.77 -16 0.215 0.173 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1880.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.07e-15 5.07 -15 2.356 1.884 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 21.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON RRBP1 Apolipoprotein B (30640) EFO_0004615 1.82e-24 1.82 -24 -0.545 -0.674 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 191.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PCSK9 Apolipoprotein B (30640) EFO_0004615 1.39e-12 1.39 -12 -0.398 -0.55 AFR HANCESTRO_0010 UK Biobank 450k 8474 8474 154.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SEC23B Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.73e-23 2.73 -23 0.195 0.163 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3194.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CETP Apolipoprotein B (30640) EFO_0004615 4.82e-13 4.82 -13 -0.169 -0.231 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 816.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CAD Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.56e-22 5.56 -22 0.739 0.614 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 210.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APEH Red blood cell erythrocyte distribution width (30070) EFO_0009188 8.41e-16 8.41 -16 -0.18 -0.238 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 975.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL3 Apolipoprotein B (30640) EFO_0004615 1.29e-15 1.29 -15 -0.137 -0.182 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 1643.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 3.2200000000000005e-64 3.22 -64 2.067 1.853 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON FLT3 Monocyte count (30130) EFO_0005091 1.55e-19 1.55 -19 0.287 0.236 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 1180.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZNF229 Apolipoprotein B (30640) EFO_0004615 3.3899999999999998e-53 3.39 -53 -0.178 -0.203 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 5150.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 4.21e-16 4.21 -16 9.496 16.335 EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 25.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON FLG Age hay fever rhinitis or eczema diagnosed (3761) EFO_0004847 1.7999999999999998e-35 1.8 -35 -0.179 -0.213 EUR HANCESTRO_0005 UK Biobank 450k GCST90079072 88602 88602 3170.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 1.24e-30 1.24 -30 8.852 12.835 EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 53.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 2.28e-22 2.28 -22 3.333 4.248 EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 97.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKLR Haemoglobin concentration (30020) EFO_0004509 5.06e-25 5.06 -25 -0.083 -0.103 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 5721.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Eosinophil count (30150) EFO_0004842 1.5700000000000001e-26 1.57 -26 -0.302 -0.369 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 708.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON IL33 Eosinophil count (30150) EFO_0004842 5.13e-74 5.13 -74 -0.213 -0.239 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 4992.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LPA Lipoprotein A (30790) EFO_0006925 9.93e-23 9.93 -23 -0.285 -0.357 EUR HANCESTRO_0005 UK Biobank 450k GCST90079034 329317 329317 748.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GMPR Haemoglobin concentration (30020) EFO_0004509 8.32e-14 8.32 -14 0.115 0.091 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 3789.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACO1 Haemoglobin concentration (30020) EFO_0004509 4.09e-24 4.09 -24 0.451 0.378 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 403.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LPA Lipoprotein A (30790) EFO_0006925 1.3e-73 1.3 -73 -0.36 -0.404 EUR HANCESTRO_0005 UK Biobank 450k GCST90079034 329317 329317 2027.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CSF2RB Eosinophil count (30150) EFO_0004842 8.56e-38 8.56 -38 -0.406 -0.479 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 616.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CEBPE Eosinophil count (30150) EFO_0004842 2.06e-18 2.06 -18 -0.075 -0.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 6983.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACO1 Haemoglobin concentration (30020) EFO_0004509 3.58e-32 3.58 -32 0.191 0.164 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 2911.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SH2B3 Haemoglobin concentration (30020) EFO_0004509 9.710000000000001e-27 9.71 -27 0.156 0.132 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 3695.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Haemoglobin concentration (30020) EFO_0004509 4.27e-13 4.27 -13 -0.094 -0.129 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1779.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON IL33 Eosinophil count (30150) EFO_0004842 5.13e-74 5.13 -74 -0.213 -0.238 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 5008.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TMPRSS6 Haemoglobin concentration (30020) EFO_0004509 5.4e-23 5.4 -23 -0.312 -0.389 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 361.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LPA Lipoprotein A (30790) EFO_0006925 4.06e-16 4.06 -16 -0.281 -0.37 EUR HANCESTRO_0005 UK Biobank 450k GCST90079034 329317 329317 483.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TUBB1 Platelet crit (30090) EFO_0007985 5.09e-47 5.09 -47 -0.266 -0.308 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 1677.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MPL Platelet crit (30090) EFO_0007985 4.43e-34 4.43 -34 0.47 0.404 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 699.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PTPRH Platelet crit (30090) EFO_0007985 1.79e-39 1.79 -39 -0.16 -0.188 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 3745.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CALR Platelet crit (30090) EFO_0007985 4.72e-75 4.72 -75 2.105 1.902 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 71.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON RUNX1 Platelet crit (30090) EFO_0007985 2.92e-13 2.92 -13 -0.912 -1.247 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 26.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON RUNX1 Platelet crit (30090) EFO_0007985 2.92e-13 2.92 -13 -0.912 -1.247 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 26.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CHEK2 Platelet crit (30090) EFO_0007985 3.1000000000000004e-38 3.1 -38 0.247 0.215 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 2755.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Platelet crit (30090) EFO_0007985 6.57e-13 6.57 -13 -0.056 -0.077 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 6665.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GP1BB Platelet crit (30090) EFO_0007985 1.46e-15 1.46 -15 -0.728 -0.965 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 52.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CALR Platelet crit (30090) EFO_0007985 1.46e-13 1.46 -13 0.322 0.254 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 647.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON JAK2 Platelet crit (30090) EFO_0007985 1.4700000000000002e-27 1.47 -27 0.895 0.758 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 159.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CALR Platelet crit (30090) EFO_0007985 1.46e-13 1.46 -13 0.322 0.254 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 647.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 ICD10 I12.0: Hypertensive chronic kidney disease with stage 5 chronic kidney disease or end stage renal disease MONDO_0024633 1.5500000000000002e-26 1.55 -26 59.258 125.502 EUR HANCESTRO_0005 UK Biobank 450k GCST90079963 387930 1504 19.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON LDLR ICD10 I25: Chronic ischemic heart disease EFO_0003777 1.12e-24 1.12 -24 2.208 2.568 EUR HANCESTRO_0005 UK Biobank 450k GCST90079982 387110 32706 263.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR ICD10 I25: Chronic ischemic heart disease EFO_0003777 1.13e-14 1.13 -14 7.33 12.151 EUR HANCESTRO_0005 UK Biobank 450k GCST90079982 387110 32706 33.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GCK Non cancer illness code self reported - diabetes EFO_0000400 3.84e-16 3.84 -16 4.075 5.714 EUR HANCESTRO_0005 UK Biobank 450k GCST90077722 331754 17927 58.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APC ICD10 K91.4: Colostomy and enterostomy malfunction (K91.4) EFO_0000405 2.5e-14 2.5 -14 63.128 183.296 EUR HANCESTRO_0005 UK Biobank 450k GCST90080316 387930 635 9.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON APC ICD10 K91.4: Colostomy and enterostomy malfunction (K91.4) EFO_0000405 2.5e-14 2.5 -14 63.128 183.296 EUR HANCESTRO_0005 UK Biobank 450k GCST90080316 387930 635 9.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GCK ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 8.4e-28 8.4 -28 4.634 6.102 EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 95.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 8.4e-28 8.4 -28 4.634 6.102 EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 95.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Comparative height size at age 10 - Shorter (1697) EFO_0004339 1.05e-16 1.05 -16 9.674 16.533 EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 42.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PDE3B Reticulocyte count (30250) EFO_0007986 9.63e-12 9.63 -12 -0.132 -0.186 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1165.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC4A1 Reticulocyte count (30250) EFO_0007986 3.3e-39 3.3 -39 2.272 1.977 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 38.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON IQGAP2 Reticulocyte count (30250) EFO_0007986 2.15e-12 2.15 -12 0.224 0.175 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1402.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PDE3B Reticulocyte count (30250) EFO_0007986 2.48e-16 2.48 -16 -0.129 -0.17 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 2012.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IQGAP2 Reticulocyte count (30250) EFO_0007986 7.09e-20 7.09 -20 0.107 0.088 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 9500.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SPTA1 Reticulocyte count (30250) EFO_0007986 5.49e-50 5.49 -50 0.823 0.727 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 365.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Body mass index BMI (21001) EFO_0004340 3.51e-16 3.51 -16 0.659 0.532 EUR HANCESTRO_0005 UK Biobank 450k GCST90078684 429633 429633 202.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Body mass index BMI (21001) EFO_0004340 3.51e-16 3.51 -16 0.659 0.532 EUR HANCESTRO_0005 UK Biobank 450k GCST90078684 429633 429633 202.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 ICD10 C77.3: Secondary and unspecified malignant neoplasm of axilla and upper limb lymph nodes MONDO_0024339 2.32e-14 2.32 -14 3.198 4.31 EUR HANCESTRO_0005 UK Biobank 450k GCST90079618 387930 2725 62.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Arm fat percentage right (23119) EFO_0007800 5.5e-22 5.5 -22 0.269 0.224 EUR HANCESTRO_0005 UK Biobank 450k GCST90078922 423608 423608 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MIP ICD10 H26.9: Unspecified cataract MONDO_0005129 1.95e-17 1.95 -17 13.76 25.192 EUR HANCESTRO_0005 UK Biobank 450k GCST90079892 387427 17761 25.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CASP7 ICD10 H26.9: Unspecified cataract MONDO_0005129 4.69e-14 4.69 -14 1.737 2.005 EUR HANCESTRO_0005 UK Biobank 450k GCST90079892 387427 17761 247.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANKRD12 Neutrophil percentage (30200) EFO_0007990 2.79e-16 2.79 -16 0.543 0.438 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 312.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MYD88 Neutrophil percentage (30200) EFO_0007990 1.44e-14 1.44 -14 -0.288 -0.386 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 356.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TYK2 Neutrophil percentage (30200) EFO_0007990 9.9e-13 9.9 -13 -0.056 -0.077 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 7855.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GRK6 Neutrophil percentage (30200) EFO_0007990 2.57e-13 2.57 -13 0.337 0.266 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 678.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CHEK2 Neutrophil count (30140) EFO_0004833 2.86e-13 2.86 -13 0.131 0.104 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 5035.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON INSC Heel quantitative ultrasound index QUI direct entry left (4104) EFO_0004514 9.93e-12 9.93 -12 0.11 0.085 EUR HANCESTRO_0005 UK Biobank 450k GCST90079151 166283 166283 5117.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MYD88 Type of Cancer: Lymphoid leukemia (40006) EFO_0004289 7.16e-15 7.16 -15 25.012 56.274 EUR HANCESTRO_0005 UK Biobank 450k GCST90079125 74230 699 14.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Comparative body size at age 10 - Plumper (1687) EFO_0009819 2.3800000000000002e-32 2.38 -32 6.071 8.183 EUR HANCESTRO_0005 UK Biobank 450k GCST90077589 423612 68629 104.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Comparative body size at age 10 - Plumper (1687) EFO_0009819 2.3800000000000002e-32 2.38 -32 6.071 8.183 EUR HANCESTRO_0005 UK Biobank 450k GCST90077589 423612 68629 104.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON IL33 AllergicDiseaseCases vs AllergicDiseaseControls (RGC) MONDO_0005271 1.62e-20 1.62 -20 0.681 0.739 EUR HANCESTRO_0005 UK Biobank 450k GCST90081451 354024 73382 665.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 6mm weak meridian right (5098) EFO_0004731 3.3e-16 3.3 -16 0.928 0.749 EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 95.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PRSS56 6mm weak meridian right (5098) EFO_0004731 6.11e-12 6.11 -12 0.624 0.485 EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 162.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SMAD6 6mm weak meridian right (5098) EFO_0004731 3.3e-16 3.3 -16 0.928 0.749 EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 95.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK Non cancer illness code self reported - type 2 diabetes MONDO_0005148 1.46e-14 1.46 -14 15.428 30.983 EUR HANCESTRO_0005 UK Biobank 450k GCST90077724 331754 3497 17.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON IFT140 ICD10 N28: Other disorders of kidney and ureter, not elsewhere classified EFO_0009690 1.09e-16 1.09 -16 5.464 8.161 EUR HANCESTRO_0005 UK Biobank 450k GCST90080595 387002 3413 40.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK T2D (RGC) MONDO_0005148 1.02e-12 1.02 -12 26.169 64.221 EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 16.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON GCK Non cancer illness code self reported - type 2 diabetes/ICD10 E11 MONDO_0005148 5.14e-15 5.14 -15 10.36 18.608 EUR HANCESTRO_0005 UK Biobank 450k GCST90077725 329052 3203 22.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Comparative height size at age 10 - Taller (1697) EFO_0004339 2.49e-30 2.49 -30 1.378 1.455 EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 2169.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FLG Non cancer illness code self reported - eczema dermatitis EFO_0005319 8.47e-18 8.47 -18 1.703 1.923 EUR HANCESTRO_0005 UK Biobank 450k GCST90077853 331754 12790 331.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON KLF1 Mean sphered cell volume (30270) EFO_0004526 9.05e-29 9.05 -29 -0.45 -0.547 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 343.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RHAG Mean sphered cell volume (30270) EFO_0004526 1.44e-22 1.44 -22 -0.549 -0.687 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 170.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ANK1 Mean sphered cell volume (30270) EFO_0004526 8.839999999999999e-23 8.84 -23 -0.237 -0.296 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 915.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON OCA2 Hair colour natural before greying - Black (1747) EFO_0007822 6.82e-46 6.82 -46 0.42 0.474 EUR HANCESTRO_0005 UK Biobank 450k GCST90077610 429979 20623 219.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SPTA1 Mean sphered cell volume (30270) EFO_0004526 7.41e-34 7.41 -34 -0.488 -0.581 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 365.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 1.25e-11 1.25 -11 -1.231 -1.732 EAS HANCESTRO_0009 UK Biobank 450k 2106 2106 16.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SEC23B Mean sphered cell volume (30270) EFO_0004526 3.1e-12 3.1 -12 -0.212 -0.295 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 460.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CLSPN Mean sphered cell volume (30270) EFO_0004526 8.87e-12 8.87 -12 0.466 0.362 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 295.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SPTB Mean sphered cell volume (30270) EFO_0004526 1.57e-19 1.57 -19 -0.565 -0.722 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 129.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON RTEL1 Mean sphered cell volume (30270) EFO_0004526 9.54e-21 9.54 -21 0.247 0.204 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 1725.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TFRC Mean sphered cell volume (30270) EFO_0004526 1.11e-15 1.11 -15 -0.6 -0.794 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 84.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON RTEL1 Mean sphered cell volume (30270) EFO_0004526 1.2e-11 1.2 -11 0.337 0.261 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 554.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC1R Hair colour natural before greying - Black (1747) EFO_0007822 1.1800000000000001e-36 1.18 -36 0.337 0.399 EUR HANCESTRO_0005 UK Biobank 450k GCST90077610 429979 20623 102.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON E2F4 Mean sphered cell volume (30270) EFO_0004526 1.64e-15 1.64 -15 1.838 1.475 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 24.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 2.01e-16 2.01 -16 -1.891 -2.482 AFR HANCESTRO_0010 UK Biobank 450k 8409 8409 13.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON EPB42 Mean sphered cell volume (30270) EFO_0004526 2.3e-13 2.3 -13 -0.166 -0.226 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 863.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SF3B1 Mean sphered cell volume (30270) EFO_0004526 1.44e-12 1.44 -12 0.416 0.326 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 390.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANK1 Mean sphered cell volume (30270) EFO_0004526 3.1e-22 3.1 -22 -0.794 -0.995 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 79.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 6.48e-86 6.48 -86 -1.865 -2.071 SAS HANCESTRO_0006 UK Biobank 450k 9690 9690 99.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RHAG Mean sphered cell volume (30270) EFO_0004526 1.0600000000000001e-56 1.06 -56 -0.601 -0.686 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 450.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON EPB41 Mean sphered cell volume (30270) EFO_0004526 2.2999999999999997e-24 2.3 -24 -0.565 -0.699 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 178.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CAD Mean sphered cell volume (30270) EFO_0004526 4.13e-20 4.13 -20 1.185 0.977 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 73.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON PLA2G12A Mean sphered cell volume (30270) EFO_0004526 7.2e-14 7.2 -14 0.096 0.076 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 8134.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 2.01e-16 2.01 -16 -1.891 -2.482 AFR HANCESTRO_0010 UK Biobank 450k 8409 8409 13.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RTEL1 Mean sphered cell volume (30270) EFO_0004526 8.93e-15 8.93 -15 0.481 0.384 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 336.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC45A2 Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 1.81e-16 1.81 -16 0.522 0.609 EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 204.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TCF25 Hair colour natural before greying - Red (1747) EFO_0007822 2.3199999999999997e-30 2.32 -30 0.313 0.382 EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 65.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MYD88 Type of Cancer: Chronic lymphocytic leukemia of B-cell type (40006) EFO_0000095 3.85e-15 3.85 -15 44.035 113.164 EUR HANCESTRO_0005 UK Biobank 450k GCST90079124 74230 571 12.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON XPO1 Type of Cancer: Chronic lymphocytic leukemia of B-cell type (40006) EFO_0000095 3.98e-13 3.98 -13 99.731 345.727 EUR HANCESTRO_0005 UK Biobank 450k GCST90079124 74230 571 8.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON NF1 Lymphocyte percentage (30180) EFO_0007993 1.08e-13 1.08 -13 -0.437 -0.593 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 136.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON CXCL2 Lymphocyte percentage (30180) EFO_0007993 1.54e-11 1.54 -11 0.722 0.559 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 126.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CXCL2 Lymphocyte percentage (30180) EFO_0007993 6.76e-13 6.76 -13 0.843 0.662 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 102.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC1R Ease of skin tanning - Get mildly or occasionally tanned (1727) EFO_0007009 5.98e-25 5.98 -25 1.373 1.458 EUR HANCESTRO_0005 UK Biobank 450k GCST90077604 422570 93163 1599.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CXCL6 Lymphocyte percentage (30180) EFO_0007993 5.01e-13 5.01 -13 0.109 0.086 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 6207.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.43e-128 2.43 -128 -2.149 -2.339 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 98.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 4.97e-15 4.97 -15 2.928 3.831 EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 81.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.43e-128 2.43 -128 -2.149 -2.339 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 98.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 4.97e-15 4.97 -15 2.928 3.831 EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 81.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS3 Impedance of arm left (23110) HP_0000924 1.98e-13 1.98 -13 -0.093 -0.127 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 1455.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Impedance of arm left (23110) HP_0000924 2.5e-13 2.5 -13 -0.102 -0.139 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Impedance of arm left (23110) HP_0000924 4.82e-16 4.82 -16 0.212 0.171 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 987.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON ANTXR1 Impedance of arm left (23110) HP_0000924 2.01e-17 2.01 -17 -0.114 -0.148 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 1439.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MEGF6 FEV1 FVC ratio Z score (20258) EFO_0004713 2.34e-13 2.34 -13 0.139 0.11 EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 4077.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HMCN1 FEV1 FVC ratio Z score (20258) EFO_0004713 4.239999999999999e-34 4.24 -34 0.131 0.113 EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 10826.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PALB2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 7.7e-14 7.7 -14 2.056 2.483 EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 146.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HMCN1 FEV1 FVC ratio Z score (20258) EFO_0004713 3.44e-36 3.44 -36 0.18 0.155 EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 6022.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PALB2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 3.32e-14 3.32 -14 2.547 3.243 EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 95.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACVRL1 ICD10 R04.0: Epistaxis EFO_0003895 7.05e-13 7.05 -13 53.477 158.493 EUR HANCESTRO_0005 UK Biobank 450k GCST90080761 385081 3559 9.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ALPL Phosphate (30810) EFO_0010968 1.11e-11 1.11 -11 0.973 0.755 EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 71.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON SLC34A3 Phosphate (30810) EFO_0010968 3.27e-27 3.27 -27 -0.179 -0.219 EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 2145.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ALPL Phosphate (30810) EFO_0010968 3.4e-24 3.4 -24 1.158 0.97 EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 96.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ENPP1 Phosphate (30810) EFO_0010968 7.26e-14 7.26 -14 -0.316 -0.429 EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 268.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Impedance of arm right (23109) HP_0000924 6.4500000000000004e-27 6.45 -27 0.11 0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 5848.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON OBSCN Impedance of arm right (23109) HP_0000924 3.9e-18 3.9 -18 -0.041 -0.053 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 11785.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MYOC ICD10 H40.9: Unspecified glaucoma EFO_0000516 2.19e-18 2.19 -18 4.612 6.496 EUR HANCESTRO_0005 UK Biobank 450k GCST90079908 387930 3672 53.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Whole body fat mass (23100) EFO_0005409 5.14e-13 5.14 -13 0.594 0.467 EUR HANCESTRO_0005 UK Biobank 450k GCST90078904 423023 423023 197.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON THBS3 Impedance of arm right (23109) HP_0000924 8.22e-16 8.22 -16 -0.061 -0.08 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 4411.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Impedance of arm right (23109) HP_0000924 2.87e-18 2.87 -18 0.224 0.183 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 987.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON TTN Impedance of arm right (23109) HP_0000924 1.02e-36 1.02 -36 0.145 0.126 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 4407.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON FGD1 Impedance of arm right (23109) HP_0000924 6.58e-12 6.58 -12 -0.19 -0.266 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 158.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON OBSCN Impedance of arm right (23109) HP_0000924 1.44e-12 1.44 -12 -0.046 -0.063 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 5453.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON FLG Asthma (RGC) MONDO_0004979 2.43e-17 2.43 -17 1.227 1.287 EUR HANCESTRO_0005 UK Biobank 450k GCST90081461 375465 61807 2344.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HNF1A Non cancer illness code self reported - diabetes/ICD10 E14 EFO_0000400 1.06e-11 1.06 -11 7.369 13.106 EUR HANCESTRO_0005 UK Biobank 450k GCST90077723 329052 16961 23.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GCK Non cancer illness code self reported - diabetes/ICD10 E14 EFO_0000400 2.83e-15 2.83 -15 17.083 34.55 EUR HANCESTRO_0005 UK Biobank 450k GCST90077723 329052 16961 20.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Leg fat percentage left (23115) EFO_0007800 3.16e-15 3.16 -15 0.164 0.131 EUR HANCESTRO_0005 UK Biobank 450k GCST90078918 423643 423643 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON WNT1 Heel quantitative ultrasound index QUI direct entry right (4123) EFO_0004514 1.65e-12 1.65 -12 -0.347 -0.48 EUR HANCESTRO_0005 UK Biobank 450k GCST90079157 166358 166358 167.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RP11-545J16.1 Total bilirubin (30840) EFO_0004570 7.96e-40 7.96 -40 0.108 0.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 12956.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A4 Total bilirubin (30840) EFO_0004570 5.48e-15 5.48 -15 0.517 0.414 SAS HANCESTRO_0006 UK Biobank 450k 9811 9811 347.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A1 Total bilirubin (30840) EFO_0004570 1.2300000000000001e-36 1.23 -36 0.968 0.838 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 195.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SPTA1 Total bilirubin (30840) EFO_0004570 1.2500000000000001e-21 1.25 -21 0.527 0.437 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 296.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON UGT1A10 Total bilirubin (30840) EFO_0004570 5.9599999999999995e-53 5.96 -53 0.522 0.463 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 932.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SAG Total bilirubin (30840) EFO_0004570 2.42e-14 2.42 -14 0.382 0.304 AFR HANCESTRO_0010 UK Biobank 450k 8490 8490 715.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ATP11C Total bilirubin (30840) EFO_0004570 5.79e-16 5.79 -16 0.798 0.643 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 68.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A6 Total bilirubin (30840) EFO_0004570 6.32e-15 6.32 -15 0.516 0.412 SAS HANCESTRO_0006 UK Biobank 450k 9811 9811 348.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A1 Total bilirubin (30840) EFO_0004570 1.79e-16 1.79 -16 0.548 0.443 SAS HANCESTRO_0006 UK Biobank 450k 9811 9811 335.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A6 Total bilirubin (30840) EFO_0004570 8.680000000000001e-56 8.68 -56 0.46 0.409 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1272.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RP11-545J16.1 Total bilirubin (30840) EFO_0004570 4.95e-12 4.95 -12 0.204 0.159 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1209.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADAMTS17 Forced expiratory volume in 1 second FEV1 Best measure (20150) EFO_0004314 1.7e-14 1.7 -14 -0.09 -0.121 EUR HANCESTRO_0005 UK Biobank 450k GCST90078316 322002 322002 1921.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GATA5 Forced expiratory volume in 1 second FEV1 Best measure (20150) EFO_0004314 3.66e-15 3.66 -15 -0.055 -0.074 EUR HANCESTRO_0005 UK Biobank 450k GCST90078316 322002 322002 5446.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Eosinophil percentage (30210) EFO_0007991 1.61e-50 1.61 -50 -0.288 -0.332 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 1777.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 Eosinophil percentage (30210) EFO_0007991 1.61e-50 1.61 -50 -0.288 -0.332 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 1777.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GNB1 Eosinophil percentage (30210) EFO_0007991 9.74e-20 9.74 -20 -0.383 -0.488 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 304.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PLD1 Eosinophil percentage (30210) EFO_0007991 5.98e-12 5.98 -12 -0.046 -0.065 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 10073.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Basal metabolic rate (23105) EFO_0007777 2.18e-14 2.18 -14 0.485 0.386 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 138.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON IRS1 Basal metabolic rate (23105) EFO_0007777 1.41e-20 1.41 -20 -0.369 -0.468 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 140.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Basal metabolic rate (23105) EFO_0007777 9.38e-18 9.38 -18 -0.077 -0.1 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 2643.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC4R Basal metabolic rate (23105) EFO_0007777 3.22e-29 3.22 -29 0.226 0.192 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Basal metabolic rate (23105) EFO_0007777 2.07e-14 2.07 -14 0.594 0.473 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 92.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Basal metabolic rate (23105) EFO_0007777 2.1e-13 2.1 -13 0.378 0.299 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 213.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PIEZO1 Basal metabolic rate (23105) EFO_0007777 7.62e-13 7.62 -13 -0.02 -0.028 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 24592.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR ICD10 E78.00: Pure hypercholesterolemia, unspecified HP_0003124 2.16e-21 2.16 -21 3.634 4.742 EUR HANCESTRO_0005 UK Biobank 450k GCST90079765 375399 5498 83.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC1R Skin colour - Light olive (1717) EFO_0003784 1.38e-20 1.38 -20 0.25 0.335 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 43.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR CAD (RGC) EFO_0001645 1.26e-19 1.26 -19 2.268 2.707 EUR HANCESTRO_0005 UK Biobank 450k GCST90081466 283203 28605 198.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACSF3 Skin colour - Light olive (1717) EFO_0003784 9.6e-12 9.6 -12 0.814 0.864 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 1409.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR CAD (RGC) EFO_0001645 8.54e-18 8.54 -18 3.817 5.181 EUR HANCESTRO_0005 UK Biobank 450k GCST90081466 283203 28605 77.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON OCA2 Skin colour - Light olive (1717) EFO_0003784 4.46e-35 4.46 -35 0.369 0.433 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 145.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC1R Skin colour - Light olive (1717) EFO_0003784 1.37e-158 1.37 -158 0.301 0.329 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 423.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TYR Skin colour - Light olive (1717) EFO_0003784 1.2499999999999998e-52 1.25 -52 0.386 0.436 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 253.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LPL Apolipoprotein A (30630) EFO_0004732 5.64e-25 5.64 -25 -0.277 -0.342 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 654.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CHD2 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 2.73e-19 2.73 -19 111.857 313.216 EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 11.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON CD36 Apolipoprotein A (30630) EFO_0004732 4.08e-41 4.08 -41 0.23 0.201 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 3255.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CETP Apolipoprotein A (30630) EFO_0004732 1.6199999999999998e-48 1.62 -48 0.523 0.462 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 739.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCAT Apolipoprotein A (30630) EFO_0004732 3.1499999999999995e-23 3.15 -23 -0.904 -1.126 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 57.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR Apolipoprotein A (30630) EFO_0004732 5.66e-13 5.66 -13 -0.11 -0.151 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1642.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LPL Apolipoprotein A (30630) EFO_0004732 5.64e-25 5.64 -25 -0.277 -0.342 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 654.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCA1 Apolipoprotein A (30630) EFO_0004732 5.45e-146 5.45 -146 -1.352 -1.463 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 222.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON APOA1 Apolipoprotein A (30630) EFO_0004732 1.22e-33 1.22 -33 -1.168 -1.394 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 54.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 Illnesses of mother - None of the above group 2 (20110) EFO_0000493 5.82e-16 5.82 -16 0.83 0.869 EUR HANCESTRO_0005 UK Biobank 450k GCST90078283 423686 308506 6383.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MYD88 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 5.110000000000001e-21 5.11 -21 80.695 201.438 EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 13.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 Illnesses of mother - None of the above group 2 (20110) EFO_0000493 5.57e-15 5.57 -15 0.737 0.796 EUR HANCESTRO_0005 UK Biobank 450k GCST90078283 423686 308506 2055.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANGPTL3 Apolipoprotein A (30630) EFO_0004732 1.8400000000000002e-21 1.84 -21 -0.073 -0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 7666.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NOTCH1 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 1.1100000000000001e-32 1.11 -32 306.222 785.793 EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 17.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCA1 Apolipoprotein A (30630) EFO_0004732 4.65e-127 4.65 -127 -0.739 -0.804 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 639.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL3 Apolipoprotein A (30630) EFO_0004732 2.26e-64 2.26 -64 -0.449 -0.508 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 799.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCA1 Apolipoprotein A (30630) EFO_0004732 1.4399999999999998e-244 1.44 -244 -0.826 -0.877 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1043.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON APOC3 Apolipoprotein A (30630) EFO_0004732 6.44e-13 6.44 -13 0.993 0.78 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 61.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LIPC Apolipoprotein A (30630) EFO_0004732 7.490000000000001e-33 7.49 -33 0.379 0.326 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 977.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NOTCH1 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 1.1100000000000001e-32 1.11 -32 306.222 785.793 EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 17.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CHD2 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 2.9e-17 2.9 -17 68.464 182.462 EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 11.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MAMDC2 Corneal hysteresis right (5256) EFO_0010066 2.58e-14 2.58 -14 0.273 0.217 EUR HANCESTRO_0005 UK Biobank 450k GCST90079335 105888 105888 1123.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Arm fat mass right (23120) EFO_0005409 1.42e-26 1.42 -26 0.333 0.281 EUR HANCESTRO_0005 UK Biobank 450k GCST90078923 423576 423576 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON COL6A1 Corneal hysteresis right (5256) EFO_0010066 3.65e-12 3.65 -12 -0.91 -1.267 EUR HANCESTRO_0005 UK Biobank 450k GCST90079335 105888 105888 27.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LDLR Treatment or Medication Code - ezetrol 10mg tablet EFO_0007010 4.74e-18 4.74 -18 9.369 15.546 EUR HANCESTRO_0005 UK Biobank 450k GCST90078227 320758 843 28.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Ankle spacing width left (4100) EFO_0004324 5.54e-12 5.54 -12 0.863 0.672 EUR HANCESTRO_0005 UK Biobank 450k GCST90079148 166283 166283 68.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PAPPA2 IGF 1 (30770) EFO_0004627 1.9600000000000002e-33 1.96 -33 0.318 0.274 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1555.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PDE11A IGF 1 (30770) EFO_0004627 1.65e-11 1.65 -11 0.069 0.053 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 13039.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 6mm strong meridian right (5133) EFO_0004731 4.81e-18 4.81 -18 0.504 0.411 EUR HANCESTRO_0005 UK Biobank 450k GCST90079299 90887 90887 354.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TG ICD10 E03.9: Hypothyroidism, unspecified EFO_0004705 1.07e-12 1.07 -12 1.991 2.407 EUR HANCESTRO_0005 UK Biobank 450k GCST90079721 385358 19694 147.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TSHR ICD10 E03.9: Hypothyroidism, unspecified EFO_0004705 2.5299999999999997e-23 2.53 -23 2.428 2.891 EUR HANCESTRO_0005 UK Biobank 450k GCST90079721 385358 19694 187.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TG ICD10 E03.9: Hypothyroidism, unspecified EFO_0004705 1.07e-12 1.07 -12 1.991 2.407 EUR HANCESTRO_0005 UK Biobank 450k GCST90079721 385358 19694 147.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TSHR Non cancer illness code self reported - hypothyroidism myxoedema EFO_1001055 1.04e-18 1.04 -18 3.398 4.457 EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 90.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TG Non cancer illness code self reported - hypothyroidism myxoedema EFO_0004705 2.08e-12 2.08 -12 1.914 2.294 EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 165.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SIX6 SphericalEquivalent 0 left (RGC) EFO_0004731 1.31e-18 1.31 -18 -0.177 -0.228 EUR HANCESTRO_0005 UK Biobank 450k GCST90081508 93665 93665 1323.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TSHR Non cancer illness code self reported - hypothyroidism myxoedema EFO_1001055 6.920000000000001e-29 6.92 -29 2.576 3.042 EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 220.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TG Non cancer illness code self reported - hypothyroidism myxoedema EFO_1001055 2.08e-12 2.08 -12 1.914 2.294 EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 165.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CUBN Microalbumin in urine (30500) EFO_0010967 2.98e-19 2.98 -19 0.289 0.237 EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 1393.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON COL4A4 Microalbumin in urine (30500) EFO_0010967 6.14e-12 6.14 -12 0.808 0.629 EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 115.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MEPE Heel broadband ultrasound attenuation left (4101) EFO_0004514 2.54e-20 2.54 -20 -0.25 -0.318 EUR HANCESTRO_0005 UK Biobank 450k GCST90079149 166276 166276 651.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Ankle spacing width (3143) EFO_0004324 1.47e-13 1.47 -13 0.327 0.258 EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 520.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 Ankle spacing width (3143) EFO_0004324 9.54e-25 9.54 -25 0.664 0.558 EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 215.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ANKRD12 Education score England (26414) EFO_0011015 2.01e-13 2.01 -13 0.547 0.432 EUR HANCESTRO_0005 UK Biobank 450k GCST90078953 369491 369491 273.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SCUBE3 Whole body fat free mass (23101) EFO_0004995 4.48e-14 4.48 -14 -0.07 -0.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 2062.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GHRH Whole body fat free mass (23101) EFO_0004995 1.12e-13 1.12 -13 -0.257 -0.35 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 143.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACAN Whole body fat free mass (23101) EFO_0004995 3.0200000000000002e-22 3.02 -22 -0.549 -0.688 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 63.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Whole body fat free mass (23101) EFO_0004995 2.89e-16 2.89 -16 0.357 0.288 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 257.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PIEZO1 Whole body fat free mass (23101) EFO_0004995 6.66e-15 6.66 -15 -0.022 -0.029 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 24592.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GHRH Whole body fat free mass (23101) EFO_0004995 1.12e-13 1.12 -13 -0.257 -0.35 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 143.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Whole body fat free mass (23101) EFO_0004995 4.2400000000000005e-21 4.24 -21 -0.309 -0.39 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 185.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON PAPPA2 Whole body fat free mass (23101) EFO_0004995 3.75e-14 3.75 -14 -0.071 -0.096 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 2008.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SPSB3 Whole body fat free mass (23101) EFO_0004995 1.24e-16 1.24 -16 -0.044 -0.058 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 6513.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Whole body fat free mass (23101) EFO_0004995 2.89e-16 2.89 -16 0.357 0.288 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 257.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 C78: Secondary malignant neoplasm of respiratory and digestive organs EFO_0009812 1.92e-12 1.92 -12 1.87 2.225 EUR HANCESTRO_0005 UK Biobank 450k GCST90079625 387835 6526 161.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 C78: Secondary malignant neoplasm of respiratory and digestive organs EFO_0009812 2.64e-12 2.64 -12 4.171 6.224 EUR HANCESTRO_0005 UK Biobank 450k GCST90079625 387835 6526 38.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Leg fat free mass right (23113) EFO_0004995 1.6200000000000002e-21 1.62 -21 -0.325 -0.409 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 185.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ASXL1 Pack years adult smoking as proportion of life span exposed to smoking (20162) EFO_0005671 6.27e-16 6.27 -16 0.389 0.313 EUR HANCESTRO_0005 UK Biobank 450k GCST90078326 134156 134156 627.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IRS1 Leg fat free mass right (23113) EFO_0004995 4.75e-18 4.75 -18 -0.332 -0.429 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 140.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SCUBE3 Leg fat free mass right (23113) EFO_0004995 4.02e-13 4.02 -13 -0.089 -0.122 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 1216.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Leg fat free mass right (23113) EFO_0004995 1e-13 10.0 -14 0.439 0.347 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 157.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 1.84e-19 1.84 -19 9.456 15.404 EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 31.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD1 ICD10 Z99.2: Dependence on renal dialysis EFO_0010690 1.23e-35 1.23 -35 60.22 114.732 EUR HANCESTRO_0005 UK Biobank 450k GCST90081442 385553 1868 26.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON LCORL Leg fat free mass right (23113) EFO_0004995 2.68e-14 2.68 -14 0.349 0.278 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 257.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Leg fat free mass right (23113) EFO_0004995 1.72e-12 1.72 -12 0.549 0.43 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 92.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Leg fat free mass right (23113) EFO_0004995 2.53e-17 2.53 -17 -0.058 -0.075 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 4404.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MLH1 ICD10 Z08.0: Follow-up examination after surgery for malignant neoplasm (Z08.0) EFO_0004542 2.1599999999999998e-23 2.16 -23 53.37 116.683 EUR HANCESTRO_0005 UK Biobank 450k GCST90081197 387930 4711 18.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CHEK2 Ever used hormone replacement therapy HRT - Yes (2814) EFO_0003961 1.53e-11 1.53 -11 0.671 0.753 EUR HANCESTRO_0005 UK Biobank 450k GCST90078962 233003 92655 488.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MSH2 ICD10 Z08.0: Follow-up examination after surgery for malignant neoplasm (Z08.0) EFO_0004542 5.37e-14 5.37 -14 14.322 28.654 EUR HANCESTRO_0005 UK Biobank 450k GCST90081197 387930 4711 17.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON EGFL8 Non cancer illness code self reported - psoriasis EFO_0000676 3.45e-18 3.45 -18 2.355 2.857 EUR HANCESTRO_0005 UK Biobank 450k GCST90077855 331754 5389 139.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MLH1 ICD10 Z08.0: Follow-up examination after surgery for malignant neoplasm (Z08.0) EFO_0004542 8.03e-19 8.03 -19 93.114 253.871 EUR HANCESTRO_0005 UK Biobank 450k GCST90081197 387930 4711 12.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON ASXL1 ICD10 F17: Nicotine dependence EFO_0003768 1.39e-14 1.39 -14 2.218 2.717 EUR HANCESTRO_0005 UK Biobank 450k GCST90079798 370495 32828 140.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Pulse rate automated reading (102) EFO_0004326 5.37e-34 5.37 -34 0.182 0.157 EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 5669.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 ICD10 I12: Hypertensive chronic kidney disease MONDO_0024633 1.38e-25 1.38 -25 24.864 45.412 EUR HANCESTRO_0005 UK Biobank 450k GCST90079964 387912 1660 25.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON POLE Mean reticulocyte volume (30260) EFO_0010701 2.96e-15 2.96 -15 0.091 0.073 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 10085.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON E2F8 Mean reticulocyte volume (30260) EFO_0010701 1.24e-14 1.24 -14 0.536 0.428 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 272.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOC3 Mean reticulocyte volume (30260) EFO_0010701 2.6e-12 2.6 -12 0.176 0.137 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 2176.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 ICD10 I12: Hypertensive chronic kidney disease MONDO_0024633 1.08e-21 1.08 -21 6.971 10.375 EUR HANCESTRO_0005 UK Biobank 450k GCST90079964 387912 1660 43.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TERT Mean reticulocyte volume (30260) EFO_0010701 9.89e-15 9.89 -15 0.563 0.45 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 247.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CA1 Mean reticulocyte volume (30260) EFO_0010701 1.18e-12 1.18 -12 -0.196 -0.27 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 582.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BTG2 Mean reticulocyte volume (30260) EFO_0010701 1.54e-11 1.54 -11 0.41 0.318 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 383.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean reticulocyte volume (30260) EFO_0010701 4.76e-47 4.76 -47 -1.163 -1.346 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 96.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean reticulocyte volume (30260) EFO_0010701 9.289999999999999e-42 9.29 -42 -1.194 -1.396 SAS HANCESTRO_0006 UK Biobank 450k 9692 9692 99.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CAD Mean reticulocyte volume (30260) EFO_0010701 7.91e-25 7.91 -25 1.313 1.103 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 73.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON ATM ICD10 C77: Secondary and unspecified malignant neoplasm of lymph nodes MONDO_0024339 1e-13 10.0 -14 3.072 4.128 EUR HANCESTRO_0005 UK Biobank 450k GCST90079620 387882 7019 64.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SF3B1 Mean reticulocyte volume (30260) EFO_0010701 1.67e-14 1.67 -14 0.447 0.356 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 390.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean reticulocyte volume (30260) EFO_0010701 4.76e-47 4.76 -47 -1.163 -1.346 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 96.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON POLE Mean reticulocyte volume (30260) EFO_0010701 1.07e-30 1.07 -30 0.173 0.148 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 5129.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPTB Mean reticulocyte volume (30260) EFO_0010701 6.01e-19 6.01 -19 -0.557 -0.715 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 129.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SEC23B Mean reticulocyte volume (30260) EFO_0010701 5.96e-13 5.96 -13 -0.224 -0.307 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 460.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADCK3 Mean reticulocyte volume (30260) EFO_0010701 8.95e-16 8.95 -16 -0.13 -0.172 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1873.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON RTEL1 Mean reticulocyte volume (30260) EFO_0010701 2.49e-17 2.49 -17 0.23 0.187 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1727.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CEP350 Mean reticulocyte volume (30260) EFO_0010701 1.4e-12 1.4 -12 -0.349 -0.483 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 183.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ASXL1 Past tobacco smoking - I have never smoked (1249) EFO_0005671 5.47e-12 5.47 -12 0.616 0.707 EUR HANCESTRO_0005 UK Biobank 450k GCST90077586 397089 171084 273.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PPARG HDL cholesterol (30760) EFO_0004612 3.56e-19 3.56 -19 -0.504 -0.645 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 129.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON NR1H3 HDL cholesterol (30760) EFO_0004612 1.12e-11 1.12 -11 0.438 0.34 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 270.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCAT HDL cholesterol (30760) EFO_0004612 1.1500000000000001e-29 1.15 -29 -1.039 -1.256 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 57.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOA5 HDL cholesterol (30760) EFO_0004612 2.0900000000000002e-22 2.09 -22 -0.236 -0.296 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 734.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NR1H3 HDL cholesterol (30760) EFO_0004612 1.41e-32 1.41 -32 0.268 0.23 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1805.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOA1 HDL cholesterol (30760) EFO_0004612 5.44e-15 5.44 -15 -0.927 -1.237 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 27.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SCARB1 HDL cholesterol (30760) EFO_0004612 3.35e-117 3.35 -117 0.45 0.415 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 2078.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PPARG HDL cholesterol (30760) EFO_0004612 3.51e-15 3.51 -15 -0.296 -0.394 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 267.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PDE3B HDL cholesterol (30760) EFO_0004612 9.73e-56 9.73 -56 0.339 0.301 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1852.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOC3 HDL cholesterol (30760) EFO_0004612 2.73e-50 2.73 -50 0.863 0.763 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 259.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCAT HDL cholesterol (30760) EFO_0004612 1.1500000000000001e-29 1.15 -29 -1.039 -1.256 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 57.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL8 HDL cholesterol (30760) EFO_0004612 8.18e-20 8.18 -20 0.391 0.321 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 539.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOA5 HDL cholesterol (30760) EFO_0004612 8.160000000000001e-29 8.16 -29 -0.386 -0.469 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 382.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APOA5 HDL cholesterol (30760) EFO_0004612 2.0900000000000002e-22 2.09 -22 -0.236 -0.296 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 734.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SRSF2 HDL cholesterol (30760) EFO_0004612 4.09e-14 4.09 -14 -0.355 -0.48 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 166.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL4 HDL cholesterol (30760) EFO_0004612 1.27e-21 1.27 -21 0.28 0.232 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1143.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PLIN1 HDL cholesterol (30760) EFO_0004612 2.07e-15 2.07 -15 0.242 0.194 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1139.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Treatment or Medication Code - atorvastatin EFO_0007010 6.470000000000001e-27 6.47 -27 5.593 7.658 EUR HANCESTRO_0005 UK Biobank 450k GCST90078178 320758 16654 73.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LDLR Treatment or Medication Code - atorvastatin EFO_0007010 1.9799999999999997e-48 1.98 -48 3.465 4.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90078178 320758 16654 229.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R Leg predicted mass right (23114) EFO_0004302 3.52e-14 3.52 -14 -0.085 -0.114 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 1485.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Leg predicted mass right (23114) EFO_0004302 7.69e-14 7.69 -14 0.467 0.37 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 138.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN ICD10 I42.9: Cardiomyopathy, unspecified EFO_0000318 4.78e-19 4.78 -19 7.746 12.148 EUR HANCESTRO_0005 UK Biobank 450k GCST90079999 387930 681 34.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN ICD10 I42.0: Dilated cardiomyopathy EFO_0000407 1.49e-54 1.49 -54 9.989 13.35 EUR HANCESTRO_0005 UK Biobank 450k GCST90079998 387930 858 88.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Leg predicted mass right (23114) EFO_0004302 1.18e-13 1.18 -13 -0.295 -0.401 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 115.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PDE3B Leg predicted mass right (23114) EFO_0004302 2.9e-14 2.9 -14 0.122 0.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 2067.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Leg predicted mass right (23114) EFO_0004302 1.18e-13 1.18 -13 -0.295 -0.401 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 115.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ASXL1 Past tobacco smoking - Smoked on most or all days (1249) EFO_0005671 1.54e-12 1.54 -12 1.741 2.03 EUR HANCESTRO_0005 UK Biobank 450k GCST90077585 397089 109016 339.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MSH6 Type of Cancer: Malignant neoplasm of endometrium (40006) MONDO_0011962 1.39e-17 1.39 -17 4.381 6.149 EUR HANCESTRO_0005 UK Biobank 450k GCST90079109 41005 1536 58.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOC3 Triglycerides (30870) EFO_0004530 2.2300000000000002e-307 2.23 -307 -1.126 -1.165 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 2162.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APOB Triglycerides (30870) EFO_0004530 2.4199999999999998e-234 2.42 -234 -1.049 -1.116 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 697.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CREB3L3 Triglycerides (30870) EFO_0004530 4.4e-18 4.4 -18 0.393 0.32 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 594.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANGPTL4 Triglycerides (30870) EFO_0004530 1.5999999999999999e-24 1.6 -24 -0.304 -0.376 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 600.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL3 Triglycerides (30870) EFO_0004530 3.79e-96 3.79 -96 -0.575 -0.634 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 867.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HOXB13 ICD10 Z85.4: Personal history of malignant neoplasm of genital organs EFO_0000616 1.05e-11 1.05 -11 2.561 3.358 EUR HANCESTRO_0005 UK Biobank 450k GCST90081350 387908 5672 73.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LPL Triglycerides (30870) EFO_0004530 8.44e-19 8.44 -19 0.845 0.692 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 134.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PLIN1 Triglycerides (30870) EFO_0004530 8.08e-14 8.08 -14 -0.171 -0.232 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 834.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL4 Triglycerides (30870) EFO_0004530 1.5999999999999999e-24 1.6 -24 -0.304 -0.376 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 600.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANGPTL4 Triglycerides (30870) EFO_0004530 1.67e-44 1.67 -44 -0.308 -0.359 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 1238.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANGPTL3 Triglycerides (30870) EFO_0004530 1.41e-29 1.41 -29 -0.414 -0.501 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 410.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PLA2G12A Triglycerides (30870) EFO_0004530 6.769999999999999e-52 6.77 -52 0.171 0.152 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 8109.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SRSF2 ICD10 D69.6: Thrombocytopenia, unspecified HP_0001873 2.92e-22 2.92 -22 23.614 44.724 EUR HANCESTRO_0005 UK Biobank 450k GCST90079714 387579 1788 22.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PIEZO1 ICD10 I83: Varicose veins of lower extremities HP_0002619 4.79e-14 4.79 -14 2.759 3.592 EUR HANCESTRO_0005 UK Biobank 450k GCST90080066 380908 15125 81.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON KDM5B Mean time to correctly identify matches (20023) EFO_0008354 1.75e-15 1.75 -15 0.572 0.459 EUR HANCESTRO_0005 UK Biobank 450k GCST90078252 427920 427920 253.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON JAK2 ICD10 R16: Hepatomegaly and splenomegaly, not elsewhere classified HP_0001744 1.32e-17 1.32 -17 7.004 10.947 EUR HANCESTRO_0005 UK Biobank 450k GCST90080805 387634 864 31.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 Non cancer illness code self reported - high cholesterol HP_0003124 6.31e-15 6.31 -15 0.433 0.534 EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 81.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR Non cancer illness code self reported - high cholesterol HP_0003124 2.45e-51 2.45 -51 6.09 7.703 EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 174.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LDLR Non cancer illness code self reported - high cholesterol HP_0003124 5.81e-15 5.81 -15 3.035 4.01 EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 99.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Non cancer illness code self reported - high cholesterol HP_0003124 2.01e-83 2.01 -83 3.578 4.071 EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 484.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PCSK9 Non cancer illness code self reported - high cholesterol HP_0003124 6.31e-15 6.31 -15 0.433 0.534 EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 81.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Cholesterol lowering medication (6177) EFO_0007010 7.8e-20 7.8 -20 3.421 4.457 EUR HANCESTRO_0005 UK Biobank 450k GCST90079486 69473 49091 374.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASXL1 Smoking status - Never (20116) EFO_0006527 2.12e-30 2.12 -30 0.491 0.554 EUR HANCESTRO_0005 UK Biobank 450k GCST90078300 429255 232790 375.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 Smoking status - Never (20116) EFO_0006527 5.539999999999999e-23 5.54 -23 0.482 0.557 EUR HANCESTRO_0005 UK Biobank 450k GCST90078300 429255 232790 262.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ASXL1 Smoking status - Never (20116) EFO_0006527 2.24e-14 2.24 -14 0.494 0.592 EUR HANCESTRO_0005 UK Biobank 450k GCST90078300 429255 232790 172.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MLH1 ICD10 C18: Malignant neoplasm of colon EFO_1001950 7.04e-21 7.04 -21 54.27 125.102 EUR HANCESTRO_0005 UK Biobank 450k GCST90079581 387657 3899 16.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC5A3 Cystatin C (30720) EFO_0004617 4.45e-13 4.45 -13 0.09 0.071 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 7011.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MLH1 ICD10 C18: Malignant neoplasm of colon EFO_1001950 1.08e-20 1.08 -20 51.976 119.218 EUR HANCESTRO_0005 UK Biobank 450k GCST90079581 387657 3899 16.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APC Non cancer illness code self reported - rectal or colon adenoma polyps EFO_1000633 1.17e-15 1.17 -15 39.389 96.798 EUR HANCESTRO_0005 UK Biobank 450k GCST90077867 331754 1530 12.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CGNL1 Cystatin C (30720) EFO_0004617 6.56e-12 6.56 -12 0.133 0.104 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 2990.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CLDN10 Cystatin C (30720) EFO_0004617 6.5e-25 6.5 -25 1.001 0.841 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 101.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CLDN10 Cystatin C (30720) EFO_0004617 3.2400000000000004e-33 3.24 -33 0.634 0.545 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 327.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CLDN10 Cystatin C (30720) EFO_0004617 8.41e-23 8.41 -23 0.774 0.646 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 156.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON APC Non cancer illness code self reported - rectal or colon adenoma polyps EFO_1000633 1.58e-12 1.58 -12 42.769 121.201 EUR HANCESTRO_0005 UK Biobank 450k GCST90077867 331754 1530 9.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON CLDN10 Cystatin C (30720) EFO_0004617 8.5e-12 8.5 -12 1.075 0.835 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 45.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN ICD10 I50.1: Left ventricular failure, unspecified EFO_0003144 5.46e-12 5.46 -12 3.968 5.871 EUR HANCESTRO_0005 UK Biobank 450k GCST90080021 387725 4762 39.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON BRCA2 Illnesses of siblings - Breast cancer (20111) EFO_0009640 7.78e-23 7.78 -23 2.123 2.466 EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 233.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 Illnesses of siblings - Breast cancer (20111) EFO_0009640 6.1e-14 6.1 -14 2.284 2.833 EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 115.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 I50.1: Left ventricular failure, unspecified EFO_0003144 2.49e-17 2.49 -17 3.017 3.896 EUR HANCESTRO_0005 UK Biobank 450k GCST90080021 387725 4762 86.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON APC ICD10 Z86.0: Personal history of in-situ and benign neoplasms and neoplasms of uncertain behavior EFO_0000616 1.79e-18 1.79 -18 16.465 30.794 EUR HANCESTRO_0005 UK Biobank 450k GCST90081355 387929 6926 22.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 Z86.0: Personal history of in-situ and benign neoplasms and neoplasms of uncertain behavior EFO_0000616 4.66e-13 4.66 -13 16.1 34.18 EUR HANCESTRO_0005 UK Biobank 450k GCST90081355 387929 6926 15.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON DNMT3A ICD10 C92: Myeloid leukemia EFO_0002427 9.68e-12 9.68 -12 4.156 6.262 EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 35.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TSHR Treatment or Medication Code - levothyroxine sodium EFO_0007010 1.3800000000000001e-22 1.38 -22 2.432 2.906 EUR HANCESTRO_0005 UK Biobank 450k GCST90078224 320758 19017 182.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 ICD10 C92: Myeloid leukemia EFO_0002427 2.52e-12 2.52 -12 6.411 10.784 EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 24.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SRSF2 ICD10 C92: Myeloid leukemia EFO_0002427 1.96e-43 1.96 -43 82.08 153.368 EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 29.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RUNX1 ICD10 C92: Myeloid leukemia EFO_0002427 1.36e-13 1.36 -13 30.349 74.936 EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 11.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 ICD10 C92: Myeloid leukemia EFO_0002427 4.540000000000001e-21 4.54 -21 9.853 15.86 EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 32.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASXL1 ICD10 C92: Myeloid leukemia EFO_0002427 2.03e-14 2.03 -14 15.627 31.61 EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 16.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 7.49e-43 7.49 -43 4.08 4.987 EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 155.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 7.88e-15 7.88 -15 3.71 5.163 EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 61.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON FLG AtopicDermatitis (RGC) EFO_0000274 2.26e-22 2.26 -22 1.765 1.98 EUR HANCESTRO_0005 UK Biobank 450k GCST90081462 276670 15131 388.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 8.86e-19 8.86 -19 2.989 3.81 EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 97.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PALB2 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 1.01e-12 1.01 -12 3.011 4.077 EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 62.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 1.05e-18 1.05 -18 2.609 3.228 EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 133.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ATM ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 2.91e-13 2.91 -13 1.813 2.126 EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 193.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PALB2 Illnesses of mother - Breast cancer (20110) EFO_0009640 9.87e-21 9.87 -21 2.595 3.17 EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 146.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Red blood cell erythrocyte count (30010) EFO_0004305 2.36e-12 2.36 -12 -0.094 -0.13 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 1779.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ANKRD12 Red blood cell erythrocyte count (30010) EFO_0004305 1.18e-12 1.18 -12 0.401 0.314 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 312.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Red blood cell erythrocyte count (30010) EFO_0004305 4.23e-12 4.23 -12 -0.092 -0.128 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 1794.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Red blood cell erythrocyte count (30010) EFO_0004305 4.23e-12 4.23 -12 -0.092 -0.128 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 1794.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 Illnesses of mother - Breast cancer (20110) EFO_0009640 6.96e-25 6.96 -25 3.072 3.803 EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 136.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.63e-13 1.63 -13 2.499 1.975 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 14.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON EGLN1 Red blood cell erythrocyte count (30010) EFO_0004305 9.16e-13 9.16 -13 0.775 0.608 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 85.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBA2 Red blood cell erythrocyte count (30010) EFO_0004305 1.07e-12 1.07 -12 1.137 0.892 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 39.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON EGLN1 Red blood cell erythrocyte count (30010) EFO_0004305 9.16e-13 9.16 -13 0.775 0.608 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 85.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CALR Red blood cell erythrocyte count (30010) EFO_0004305 8.28e-24 8.28 -24 -0.753 -0.935 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 71.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 Illnesses of mother - Breast cancer (20110) EFO_0009640 4.7e-20 4.7 -20 1.389 1.49 EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 965.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.63e-13 1.63 -13 2.499 1.975 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 14.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC4A1 Red blood cell erythrocyte count (30010) EFO_0004305 2.38e-15 2.38 -15 -0.746 -0.991 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 39.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GGT1 Gamma glutamyltransferase (30730) EFO_0004532 7.2e-52 7.2 -52 -1.186 -1.362 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 94.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GGT1 Gamma glutamyltransferase (30730) EFO_0004532 4.91e-68 4.91 -68 -0.27 -0.304 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 2506.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CGN Gamma glutamyltransferase (30730) EFO_0004532 1.06e-14 1.06 -14 0.214 0.171 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1538.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LRRC75B Gamma glutamyltransferase (30730) EFO_0004532 4.16e-34 4.16 -34 0.165 0.142 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 5589.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SEMA4G Gamma glutamyltransferase (30730) EFO_0004532 2.98e-16 2.98 -16 -0.073 -0.096 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 5462.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ABCB11 Gamma glutamyltransferase (30730) EFO_0004532 1.57e-14 1.57 -14 -0.106 -0.142 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 2169.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON G6PC Gamma glutamyltransferase (30730) EFO_0004532 5.45e-16 5.45 -16 0.227 0.183 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1451.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON A1CF Gamma glutamyltransferase (30730) EFO_0004532 2.27e-12 2.27 -12 0.63 0.493 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 150.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Body mass index BMI (23104) EFO_0004340 1.02e-28 1.02 -28 0.396 0.337 EUR HANCESTRO_0005 UK Biobank 450k GCST90078907 423694 423694 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BSN High light scatter reticulocyte count (30300) EFO_0007986 1.87e-11 1.87 -11 -0.032 -0.045 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 20338.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EIF2AK1 High light scatter reticulocyte count (30300) EFO_0007986 3.82e-15 3.82 -15 0.286 0.229 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1015.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TRIM10 High light scatter reticulocyte count (30300) EFO_0007986 7.45e-12 7.45 -12 -0.144 -0.202 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 993.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RIOK3 High light scatter reticulocyte count (30300) EFO_0007986 1.4800000000000002e-21 1.48 -21 0.14 0.116 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 5835.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Forced vital capacity FVC (3062) EFO_0004312 1.93e-15 1.93 -15 0.125 0.1 EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 2825.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HMCN1 Forced vital capacity FVC (3062) EFO_0004312 1.78e-13 1.78 -13 0.057 0.045 EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 12496.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPTA1 High light scatter reticulocyte count (30300) EFO_0007986 5.36e-31 5.36 -31 0.66 0.564 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 365.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON RHAG High light scatter reticulocyte count (30300) EFO_0007986 2.12e-26 2.12 -26 0.821 0.693 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 203.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB High light scatter reticulocyte count (30300) EFO_0007986 1.4700000000000002e-31 1.47 -31 1.291 1.106 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 96.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SRSF2 High light scatter reticulocyte count (30300) EFO_0007986 3.28e-35 3.28 -35 1.005 0.868 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 175.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKLR High light scatter reticulocyte count (30300) EFO_0007986 1.5499999999999998e-40 1.55 -40 0.191 0.167 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 5623.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 ICD10 Z46: Encounter for fitting and adjustment of other devices EFO_0004542 2.52e-12 2.52 -12 11.295 22.263 EUR HANCESTRO_0005 UK Biobank 450k GCST90081266 387928 6157 17.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON NF1 Non cancer illness code self reported - other neurological problem EFO_0000618 8.53e-25 8.53 -25 16.394 27.94 EUR HANCESTRO_0005 UK Biobank 450k GCST90077842 331754 1794 29.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON BRCA2 DD Cancer - Yes (2453) EFO_0000311 4.53e-13 4.53 -13 1.972 2.369 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 161.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 DD Cancer - Yes (2453) EFO_0000311 9.45e-18 9.45 -18 2.014 2.363 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 215.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MEN1 ICD10 E21: Hyperparathyroidism and other disorders of parathyroid gland EFO_0008506 7.35e-15 7.35 -15 26.832 61.467 EUR HANCESTRO_0005 UK Biobank 450k GCST90079753 387625 1168 13.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MEN1 ICD10 E21: Hyperparathyroidism and other disorders of parathyroid gland EFO_0008506 1.75e-11 1.75 -11 14.176 30.7 EUR HANCESTRO_0005 UK Biobank 450k GCST90079753 387625 1168 13.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MLH1 DD Cancer - Yes (2453) EFO_0000311 4.16e-16 4.16 -16 11.08 19.78 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 28.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 DD Cancer - Yes (2453) EFO_0000311 6.43e-20 6.43 -20 1.689 1.89 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 411.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TYRP1 Ease of skin tanning - Get very tanned (1727) EFO_0007009 5e-20 5.0 -20 0.5 0.58 EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 185.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON OCA2 Ease of skin tanning - Get very tanned (1727) EFO_0007009 1.1e-26 1.1 -26 0.452 0.523 EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 186.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 White blood cell leukocyte count (30000) EFO_0004308 1.12e-14 1.12 -14 -0.139 -0.187 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 1517.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 White blood cell leukocyte count (30000) EFO_0004308 3.95e-18 3.95 -18 -0.15 -0.194 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 1779.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TYRP1 Ease of skin tanning - Get very tanned (1727) EFO_0007009 6.18e-31 6.18 -31 0.496 0.558 EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 286.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC45A2 Ease of skin tanning - Get very tanned (1727) EFO_0007009 6.62e-24 6.62 -24 0.301 0.38 EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 58.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPATA33 Ease of skin tanning - Get very tanned (1727) EFO_0007009 1.58e-12 1.58 -12 1.289 1.384 EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 1179.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CHEK2 White blood cell leukocyte count (30000) EFO_0004308 5.18e-28 5.18 -28 0.231 0.196 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 2756.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 White blood cell leukocyte count (30000) EFO_0004308 5.53e-18 5.53 -18 -0.149 -0.192 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 1794.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PIEZO1 Seated height (51) EFO_0011011 2.33e-13 2.33 -13 -0.127 -0.174 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 911.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Seated height (51) EFO_0011011 5.01e-22 5.01 -22 -0.83 -1.042 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 44.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON CLEC10A SHBG (30830) EFO_0004696 7.3e-19 7.3 -19 -0.298 -0.382 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 389.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON FOXA3 SHBG (30830) EFO_0004696 2.14e-22 2.14 -22 0.357 0.297 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 730.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SCUBE3 Seated height (51) EFO_0011011 5.71e-16 5.71 -16 -0.097 -0.127 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 2094.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SHBG SHBG (30830) EFO_0004696 1.19e-49 1.19 -49 -0.997 -1.149 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 120.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON HNF4A SHBG (30830) EFO_0004696 3.1199999999999998e-30 3.12 -30 -0.323 -0.39 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 582.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SHBG SHBG (30830) EFO_0004696 2.2300000000000002e-307 2.23 -307 -1.272 -1.332 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 769.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON NF1 SHBG (30830) EFO_0004696 7.33e-13 7.33 -13 0.182 0.143 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 1836.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SHBG SHBG (30830) EFO_0004696 2.11e-24 2.11 -24 -0.938 -1.161 SAS HANCESTRO_0006 UK Biobank 450k 8933 8933 58.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CRISPLD1 Seated height (51) EFO_0011011 2.21e-12 2.21 -12 -0.11 -0.152 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 1085.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SHBG SHBG (30830) EFO_0004696 8.82e-16 8.82 -16 -0.899 -1.189 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 33.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON LCORL Seated height (51) EFO_0011011 8.32e-13 8.32 -13 0.403 0.316 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 263.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZNF770 SHBG (30830) EFO_0004696 7.17e-17 7.17 -17 0.987 0.799 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 74.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TMEM102 SHBG (30830) EFO_0004696 2.02e-63 2.02 -63 -0.148 -0.168 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 7247.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CRP C reactive protein (30710) EFO_0004458 4.33e-51 4.33 -51 -0.553 -0.636 EUR HANCESTRO_0005 UK Biobank 450k GCST90079026 411229 411229 499.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Trunk predicted mass (23130) EFO_0004324 2.14e-22 2.14 -22 -0.551 -0.689 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 63.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON FGD1 Impedance of whole body (23106) HP_0000924 4.23e-12 4.23 -12 -0.338 -0.472 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 61.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON PAPPA2 Trunk predicted mass (23130) EFO_0004324 2.17e-15 2.17 -15 -0.084 -0.111 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 1620.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON FBN2 Impedance of whole body (23106) HP_0000924 2.02e-11 2.02 -11 0.177 0.137 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 1192.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ZFAT Impedance of whole body (23106) HP_0000924 1.95e-11 1.95 -11 -0.041 -0.058 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 6714.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PIEZO1 Trunk predicted mass (23130) EFO_0004324 8.02e-13 8.02 -13 -0.032 -0.044 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 8420.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACAN Trunk predicted mass (23130) EFO_0004324 8.16e-18 8.16 -18 -0.562 -0.728 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 44.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON MC4R Impedance of whole body (23106) HP_0000924 4.31e-13 4.31 -13 -0.265 -0.363 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 197.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Trunk predicted mass (23130) EFO_0004324 1.58e-12 1.58 -12 0.382 0.299 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 177.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ZFAT Trunk predicted mass (23130) EFO_0004324 4.69e-73 4.69 -73 0.138 0.125 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 6707.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON COL8A2 Impedance of whole body (23106) HP_0000924 1.62e-13 1.62 -13 0.231 0.183 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 811.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Trunk predicted mass (23130) EFO_0004324 2.55e-14 2.55 -14 -0.083 -0.111 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 1485.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 6mm strong meridian left (5134) EFO_0004731 2.65e-16 2.65 -16 1.029 0.83 EUR HANCESTRO_0005 UK Biobank 450k GCST90079300 89735 89735 77.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON NF1 Trunk predicted mass (23130) EFO_0004324 3.6e-12 3.6 -12 -0.191 -0.266 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 217.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ALB Calcium (30680) EFO_0004838 1.5499999999999998e-40 1.55 -40 -0.936 -1.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 134.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON FCGRT Calcium (30680) EFO_0004838 5.59e-12 5.59 -12 -0.546 -0.764 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 74.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON CNNM4 Calcium (30680) EFO_0004838 5.85e-14 5.85 -14 0.328 0.26 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 768.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPG7 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 5.65e-13 5.65 -13 1.178 1.232 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 2717.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CASR Calcium (30680) EFO_0004838 1.45e-32 1.45 -32 2.048 1.758 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 42.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON KDM5B Duration to first press of snap button in each round (404) EFO_0008354 4.35e-14 4.35 -14 0.546 0.434 EUR HANCESTRO_0005 UK Biobank 450k GCST90079143 428085 428085 253.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CNNM4 Calcium (30680) EFO_0004838 5.85e-14 5.85 -14 0.328 0.26 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 768.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ALPL Calcium (30680) EFO_0004838 1.43e-13 1.43 -13 0.213 0.169 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 1752.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ALB Calcium (30680) EFO_0004838 3.63e-12 3.63 -12 -0.391 -0.545 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 148.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 ICD10 Z92.6: Personal history of chemotherapy for neoplastic disease EFO_0000352 6.75e-13 6.75 -13 4.935 7.629 EUR HANCESTRO_0005 UK Biobank 450k GCST90081409 387930 4641 33.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HSPG2 Alkaline phosphatase (30610) EFO_0004533 1.97e-160 1.97 -160 -0.311 -0.336 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 5095.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ASGR1 Alkaline phosphatase (30610) EFO_0004533 5.37e-152 5.37 -152 1.099 1.023 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 514.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ATM ICD10 C50: Malignant neoplasm of breast EFO_0003869 2.61e-16 2.61 -16 2.759 3.518 EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 99.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ALPL Alkaline phosphatase (30610) EFO_0004533 3.32e-106 3.32 -106 -0.663 -0.728 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 703.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ALPL Alkaline phosphatase (30610) EFO_0004533 1.14e-13 1.14 -13 -1.393 -1.892 SAS HANCESTRO_0006 UK Biobank 450k 9849 9849 13.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ATM ICD10 C50: Malignant neoplasm of breast EFO_0003869 5.52e-15 5.52 -15 2.742 3.532 EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 91.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ALPL Alkaline phosphatase (30610) EFO_0004533 2.2300000000000002e-307 2.23 -307 -1.624 -1.663 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 1910.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADH1C Alkaline phosphatase (30610) EFO_0004533 8.3e-13 8.3 -13 -0.052 -0.072 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 7707.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 4.69e-34 4.69 -34 2.749 3.236 EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 219.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ASGR1 Alkaline phosphatase (30610) EFO_0004533 4.94e-65 4.94 -65 1.082 0.971 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 240.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON B4GALNT3 Alkaline phosphatase (30610) EFO_0004533 1.16e-11 1.16 -11 0.299 0.232 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 665.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASGR1 Alkaline phosphatase (30610) EFO_0004533 1.67e-261 1.67 -261 1.165 1.103 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 766.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 1.16e-52 1.16 -52 5.462 6.792 EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 151.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Hip circumference (49) EFO_0005093 7.93e-15 7.93 -15 0.643 0.513 EUR HANCESTRO_0005 UK Biobank 450k GCST90079253 430214 430214 202.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACVRL1 ICD10 I78: Diseases of capillaries EFO_0004264 2.62e-19 2.62 -19 168.599 516.038 EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 10.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Hip circumference (49) EFO_0005093 7.93e-15 7.93 -15 0.643 0.513 EUR HANCESTRO_0005 UK Biobank 450k GCST90079253 430214 430214 202.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPTA1 Reticulocyte percentage (30240) EFO_0010700 2.15e-14 2.15 -14 0.985 0.784 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 85.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON PDE3B Reticulocyte percentage (30240) EFO_0010700 1.57e-13 1.57 -13 -0.114 -0.155 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 2012.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SPTA1 Reticulocyte percentage (30240) EFO_0010700 1.83e-45 1.83 -45 0.882 0.775 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 299.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC4A1 Reticulocyte percentage (30240) EFO_0010700 1.77e-11 1.77 -11 0.188 0.145 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1915.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON EPB41 Reticulocyte percentage (30240) EFO_0010700 3.53e-22 3.53 -22 0.824 0.685 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 179.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PDE3B Reticulocyte percentage (30240) EFO_0010700 1.57e-13 1.57 -13 -0.114 -0.155 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 2012.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC4A1 Reticulocyte percentage (30240) EFO_0010700 2.64e-27 2.64 -27 1.339 1.134 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 81.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 5.88e-36 5.88 -36 18.39 29.01 EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 41.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANK1 Reticulocyte percentage (30240) EFO_0010700 1.42e-12 1.42 -12 0.768 0.602 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 123.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Impedance of leg right (23107) HP_0000924 4.68e-13 4.68 -13 -0.315 -0.431 EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 197.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SPSB3 Impedance of leg right (23107) HP_0000924 4.02e-12 4.02 -12 0.093 0.072 EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 6518.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS3 Impedance of leg right (23107) HP_0000924 4.52e-17 4.52 -17 -0.142 -0.185 EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 1455.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACO1 Haematocrit percentage (30030) EFO_0004348 7.67e-26 7.67 -26 0.479 0.404 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 403.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACO1 Haematocrit percentage (30030) EFO_0004348 7.67e-26 7.67 -26 0.479 0.404 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 403.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SF3B1 Haematocrit percentage (30030) EFO_0004348 7.16e-13 7.16 -13 -0.203 -0.28 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 394.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APEH Haematocrit percentage (30030) EFO_0004348 3.28e-14 3.28 -14 -0.139 -0.188 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 975.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR Blood pressure medication (6177) EFO_0007010 1.84e-19 1.84 -19 0.358 0.448 EUR HANCESTRO_0005 UK Biobank 450k GCST90079487 69473 51432 177.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TMPRSS6 Haematocrit percentage (30030) EFO_0004348 1.59e-19 1.59 -19 -0.128 -0.164 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1822.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APEH Haematocrit percentage (30030) EFO_0004348 3.28e-14 3.28 -14 -0.139 -0.188 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 975.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Haematocrit percentage (30030) EFO_0004348 1.64e-27 1.64 -27 -0.764 -0.932 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON APEH Haematocrit percentage (30030) EFO_0004348 5.73e-15 5.73 -15 -0.164 -0.219 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 754.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Haematocrit percentage (30030) EFO_0004348 2.71e-55 2.71 -55 -1.068 -1.221 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 98.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR Blood pressure medication (6177) EFO_0007010 6.09e-20 6.09 -20 0.39 0.478 EUR HANCESTRO_0005 UK Biobank 450k GCST90079487 69473 51432 224.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Haematocrit percentage (30030) EFO_0004348 2.71e-55 2.71 -55 -1.068 -1.221 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 98.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SH2B3 Haematocrit percentage (30030) EFO_0004348 1.28e-12 1.28 -12 0.155 0.121 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 2047.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC9A3R2 Haematocrit percentage (30030) EFO_0004348 1.8e-14 1.8 -14 -0.055 -0.073 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 6540.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MEPE Heel bone mineral density BMD T score automated (78) EFO_0009270 4.37e-12 4.37 -12 -0.183 -0.255 EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 576.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON WNT1 Heel bone mineral density BMD T score automated (78) EFO_0009270 9.54e-16 9.54 -16 -0.356 -0.471 EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 227.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR Treatment or Medication Code - ezetimibe EFO_0007010 9.819999999999999e-54 9.82 -54 9.957 13.332 EUR HANCESTRO_0005 UK Biobank 450k GCST90078226 320758 2675 89.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR Treatment or Medication Code - ezetimibe EFO_0007010 1.99e-52 1.99 -52 8.561 11.284 EUR HANCESTRO_0005 UK Biobank 450k GCST90078226 320758 2675 96.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 LDL direct (30780) EFO_0004611 1.16e-163 1.16 -163 -0.928 -1.0 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 647.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCG5 LDL direct (30780) EFO_0004611 1.47e-16 1.47 -16 0.148 0.12 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 4159.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RRBP1 LDL direct (30780) EFO_0004611 2.15e-14 2.15 -14 -0.364 -0.489 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 210.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ZNF229 LDL direct (30780) EFO_0004611 2.9e-28 2.9 -28 -0.12 -0.145 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 5193.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CYP2R1 Vitamin D (30890) EFO_0004631 5.6e-15 5.6 -15 -0.365 -0.488 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 234.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON FLG Vitamin D (30890) EFO_0004631 4.92e-15 4.92 -15 0.158 0.126 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 3485.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON DHCR7 Vitamin D (30890) EFO_0004631 2.54e-14 2.54 -14 0.139 0.111 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 4520.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APOB Vitamin D (30890) EFO_0004631 1.12e-25 1.12 -25 0.242 0.204 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 2396.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NF1 Non cancer illness code self reported - other neurological problem/ICD10 G98 EFO_0000618 5.86e-43 5.86 -43 49.984 87.331 EUR HANCESTRO_0005 UK Biobank 450k GCST90077843 329052 1701 34.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON NF1 Non cancer illness code self reported - other neurological problem/ICD10 G98 EFO_0000618 8.21e-20 8.21 -20 4.74 6.624 EUR HANCESTRO_0005 UK Biobank 450k GCST90077843 329052 1701 55.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NF1 Non cancer illness code self reported - other neurological problem/ICD10 G98 EFO_0000618 3.6900000000000004e-31 3.69 -31 10.691 15.95 EUR HANCESTRO_0005 UK Biobank 450k GCST90077843 329052 1701 47.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 4.73e-25 4.73 -25 7.517 11.019 EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 48.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 1.9599999999999997e-30 1.96 -30 14.15 22.257 EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 40.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON KLHDC7B hearing loss (RGC) EFO_0004238 8.729999999999999e-28 8.73 -28 2.156 2.474 EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 451.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MYO6 hearing loss (RGC) EFO_0004238 6.75e-13 6.75 -13 3.112 4.242 EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 106.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R TAG Severe Obesity (RGC) EFO_0001073 1.77e-19 1.77 -19 4.905 6.928 EUR HANCESTRO_0005 UK Biobank 450k GCST90081528 150526 7973 60.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 6mm weak meridian left (5097) EFO_0004731 2.85e-17 2.85 -17 0.954 0.774 EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 95.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SMAD6 6mm weak meridian left (5097) EFO_0004731 1.05e-14 1.05 -14 0.986 0.787 EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 77.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PRSS56 6mm weak meridian left (5097) EFO_0004731 1.02e-11 1.02 -11 0.623 0.484 EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 159.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CHEK2 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 8.25e-12 8.25 -12 2.897 3.93 EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 58.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PRSS56 6mm weak meridian left (5097) EFO_0004731 1.02e-11 1.02 -11 0.623 0.484 EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 159.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PRSS56 6mm weak meridian left (5097) EFO_0004731 1.02e-11 1.02 -11 0.623 0.484 EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 159.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 1.23e-20 1.23 -20 2.773 3.436 EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 118.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SMAD6 6mm weak meridian left (5097) EFO_0004731 2.85e-17 2.85 -17 0.954 0.774 EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 95.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 3.89e-19 3.89 -19 15.687 28.683 EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 23.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ANGPTL7 6mm weak meridian left (5097) EFO_0004731 4e-20 4.0 -20 0.249 0.205 EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 1623.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 2.08e-15 2.08 -15 8.437 14.286 EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 26.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PKD1 Treatment or Medication Code - prednisolone EFO_0007010 2.88e-15 2.88 -15 12.131 22.54 EUR HANCESTRO_0005 UK Biobank 450k GCST90078076 320758 2671 20.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON NF1 ICD10 D36: Benign neoplasm of other and unspecified sites EFO_0002422 5.21e-47 5.21 -47 61.223 107.185 EUR HANCESTRO_0005 UK Biobank 450k GCST90079695 387660 899 34.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON NF1 ICD10 D36: Benign neoplasm of other and unspecified sites EFO_0002422 2.7100000000000004e-26 2.71 -26 7.583 11.025 EUR HANCESTRO_0005 UK Biobank 450k GCST90079695 387660 899 49.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 Treatment or Medication Code - prednisolone EFO_0007010 2.87e-15 2.87 -15 21.503 46.052 EUR HANCESTRO_0005 UK Biobank 450k GCST90078076 320758 2671 15.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON ALB Albumin (30600) EFO_0004535 4.0399999999999996e-55 4.04 -55 -0.384 -0.439 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 1128.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON FCGRT Albumin (30600) EFO_0004535 2.67e-35 2.67 -35 -1.598 -1.898 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 38.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IQGAP2 Albumin (30600) EFO_0004535 1.66e-18 1.66 -18 -0.13 -0.167 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 2469.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ASXL1 ICD10 A41: Other sepsis HP_0100806 1.08e-11 1.08 -11 2.738 3.661 EUR HANCESTRO_0005 UK Biobank 450k GCST90079546 387463 5918 65.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Leg fat free mass left (23117) EFO_0004995 4.59e-15 4.59 -15 -0.053 -0.07 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 4403.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Leg fat free mass left (23117) EFO_0004995 1.4e-12 1.4 -12 0.425 0.333 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 157.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Leg fat free mass left (23117) EFO_0004995 1.22e-13 1.22 -13 0.344 0.272 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 257.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Leg fat free mass left (23117) EFO_0004995 1.3e-16 1.3 -16 0.429 0.346 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 197.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Leg fat free mass left (23117) EFO_0004995 1.3e-16 1.3 -16 0.429 0.346 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 197.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Leg fat free mass left (23117) EFO_0004995 2.8e-21 2.8 -21 0.286 0.237 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 554.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACAN Leg fat free mass left (23117) EFO_0004995 1.58e-13 1.58 -13 -0.297 -0.404 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 115.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SPSB3 Leg fat free mass left (23117) EFO_0004995 1.62e-16 1.62 -16 -0.046 -0.06 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 6512.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Leg fat free mass left (23117) EFO_0004995 1.58e-16 1.58 -16 -0.465 -0.611 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 63.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SPHK1 High light scatter reticulocyte percentage (30290) EFO_0010700 8.35e-36 8.35 -36 -0.128 -0.152 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 5986.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON JAK2 High light scatter reticulocyte percentage (30290) EFO_0010700 1.17e-16 1.17 -16 0.207 0.167 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 2136.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON AMPD3 High light scatter reticulocyte percentage (30290) EFO_0010700 1.43e-14 1.43 -14 -0.05 -0.067 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 11788.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GMPR High light scatter reticulocyte percentage (30290) EFO_0010700 3.41e-73 3.41 -73 0.31 0.28 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 3713.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON R3HDM4 High light scatter reticulocyte percentage (30290) EFO_0010700 4.99e-12 4.99 -12 0.618 0.481 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 181.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK Glucose (30740) EFO_0004468 2.18e-15 2.18 -15 1.389 1.114 EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 47.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SPHK1 Immature reticulocyte fraction (30280) EFO_0010700 3.0600000000000003e-21 3.06 -21 -0.093 -0.117 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 5986.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON R3HDM4 High light scatter reticulocyte percentage (30290) EFO_0010700 4.99e-12 4.99 -12 0.618 0.481 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 181.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC4A1 High light scatter reticulocyte percentage (30290) EFO_0010700 1.37e-31 1.37 -31 2.072 1.775 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 38.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MFSD2B Immature reticulocyte fraction (30280) EFO_0010700 1.13e-17 1.13 -17 -0.088 -0.114 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 5756.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RHAG High light scatter reticulocyte percentage (30290) EFO_0010700 2.7000000000000002e-27 2.7 -27 0.565 0.479 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 450.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPTB ICD10 D73: Diseases of spleen EFO_0009002 2.3e-14 2.3 -14 48.833 132.537 EUR HANCESTRO_0005 UK Biobank 450k GCST90079718 387896 692 10.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON RHAG High light scatter reticulocyte percentage (30290) EFO_0010700 1.9800000000000003e-27 1.98 -27 0.843 0.714 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 203.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON EIF2AK1 Immature reticulocyte fraction (30280) EFO_0010700 7.32e-13 7.32 -13 0.308 0.242 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 798.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB High light scatter reticulocyte percentage (30290) EFO_0010700 5.38e-13 5.38 -13 0.876 0.689 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 96.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON FAM234A Glucose (30740) EFO_0004468 1.99e-12 1.99 -12 -0.099 -0.137 EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 2439.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC4A1 High light scatter reticulocyte percentage (30290) EFO_0010700 9.28e-22 9.28 -22 1.2 0.996 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 81.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SRSF2 High light scatter reticulocyte percentage (30290) EFO_0010700 6.73e-14 6.73 -14 0.938 0.743 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 89.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SRSF2 Immature reticulocyte fraction (30280) EFO_0010700 1.57e-16 1.57 -16 0.735 0.594 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 175.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON G6PC Creatinine (30700) EFO_0004518 5.25e-14 5.25 -14 -0.11 -0.149 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 1452.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LRP2 Creatinine (30700) EFO_0004518 1.82e-16 1.82 -16 -0.449 -0.589 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 112.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON SLC25A45 Creatinine (30700) EFO_0004518 1.48e-11 1.48 -11 -0.044 -0.063 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 6666.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON OBSCN Creatinine (30700) EFO_0004518 3.41e-13 3.41 -13 0.066 0.052 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 11448.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CLPX Creatinine (30700) EFO_0004518 8.06e-14 8.06 -14 0.094 0.074 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 5865.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PROS1 TAG VTE CC (RGC) EFO_0004286 2.49e-13 2.49 -13 7.664 13.222 EUR HANCESTRO_0005 UK Biobank 450k GCST90081530 231542 10941 30.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC47A1 Creatinine (30700) EFO_0004518 8.13e-38 8.13 -38 0.173 0.15 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 4209.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 Creatinine (30700) EFO_0004518 5.8500000000000004e-43 5.85 -43 0.747 0.654 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 252.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ATM ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 4.22e-16 4.22 -16 2.054 2.444 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 184.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH6 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 9.86e-15 9.86 -15 2.812 3.654 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 89.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.1399999999999999e-23 1.14 -23 2.463 2.937 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 190.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NF1 ICD10 D36.1: Benign neoplasm of peripheral nerves and autonomic nervous system EFO_0002422 2.9699999999999996e-54 2.97 -54 130.435 241.386 EUR HANCESTRO_0005 UK Biobank 450k GCST90079694 387929 616 32.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON NF1 ICD10 D36.1: Benign neoplasm of peripheral nerves and autonomic nervous system EFO_0002422 8.329999999999999e-34 8.33 -34 14.083 21.6 EUR HANCESTRO_0005 UK Biobank 450k GCST90079694 387929 616 43.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NF1 ICD10 D36.1: Benign neoplasm of peripheral nerves and autonomic nervous system EFO_0002422 2.06e-32 2.06 -32 40.463 74.609 EUR HANCESTRO_0005 UK Biobank 450k GCST90079694 387929 616 26.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON BRCA1 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.42e-20 1.42 -20 2.217 2.622 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 202.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON WNT1 Heel broadband ultrasound attenuation right (4120) EFO_0004514 5.51e-12 5.51 -12 -0.332 -0.464 EUR HANCESTRO_0005 UK Biobank 450k GCST90079155 166349 166349 167.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GHRH Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 7.47e-13 7.47 -13 -0.257 -0.354 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 58.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RASA3 Lymphocyte count (30120) EFO_0004587 3.9e-21 3.9 -21 -0.168 -0.212 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 1744.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CHEK2 Lymphocyte count (30120) EFO_0004587 9.120000000000001e-21 9.12 -21 0.202 0.167 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 2752.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HNF1A OralDiabetes Med (RGC) EFO_0007010 6.15e-12 6.15 -12 7.884 14.201 EUR HANCESTRO_0005 UK Biobank 450k GCST90081503 320758 13132 22.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SBNO2 Lymphocyte count (30120) EFO_0004587 1.3499999999999999e-24 1.35 -24 0.447 0.375 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 658.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 5.99e-15 5.99 -15 0.411 0.329 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 80.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RASAL3 Lymphocyte count (30120) EFO_0004587 2.97e-12 2.97 -12 -0.066 -0.092 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 5082.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CHD2 Lymphocyte count (30120) EFO_0004587 3.37e-13 3.37 -13 0.978 0.77 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 78.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 1.02e-15 1.02 -15 0.532 0.427 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 50.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADAMTS17 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 2.29e-14 2.29 -14 -0.059 -0.079 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 1336.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NPR2 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 1.27e-11 1.27 -11 -0.307 -0.431 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 35.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SBNO2 Lymphocyte count (30120) EFO_0004587 8.51e-13 8.51 -13 0.683 0.536 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 157.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LDLR Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 5.47e-12 5.47 -12 2.783 3.723 EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 84.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APOB Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 3.95e-21 3.95 -21 0.174 0.25 EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 17.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PCSK9 Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 1.85e-11 1.85 -11 0.467 0.583 EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 72.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 2e-12 2.0 -12 5.157 8.145 EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 40.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON LDLR Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 1.34e-16 1.34 -16 6.3 9.744 EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 49.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GCK DD DM - Yes (2443) EFO_0000400 9.46e-30 9.46 -30 5.13 6.807 EUR HANCESTRO_0005 UK Biobank 450k GCST90078949 429739 22058 89.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL7 corneal power (RGC) EFO_0004731 1.1e-13 1.1 -13 0.196 0.155 EUR HANCESTRO_0005 UK Biobank 450k GCST90081537 103531 103531 1843.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 corneal power (RGC) EFO_0004731 3.85e-19 3.85 -19 0.93 0.763 EUR HANCESTRO_0005 UK Biobank 450k GCST90081537 103531 103531 109.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PFKL Glycated haemoglobin HbA1c (30750) EFO_0004541 5.62e-14 5.62 -14 0.123 0.098 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 4723.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EPB42 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.47e-11 1.47 -11 -0.142 -0.2 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 867.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EPB42 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.47e-11 1.47 -11 -0.142 -0.2 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 867.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GIGYF1 Glycated haemoglobin HbA1c (30750) EFO_0004541 2.82e-25 2.82 -25 0.866 0.728 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 156.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PFKM Glycated haemoglobin HbA1c (30750) EFO_0004541 9.66e-21 9.66 -21 -0.363 -0.459 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 317.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON EPB41 Glycated haemoglobin HbA1c (30750) EFO_0004541 3.1500000000000004e-27 3.15 -27 -0.584 -0.714 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 176.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK Glycated haemoglobin HbA1c (30750) EFO_0004541 1.03e-18 1.03 -18 1.97 1.612 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 23.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON G6PD Glycated haemoglobin HbA1c (30750) EFO_0004541 1.98e-19 1.98 -19 -0.522 -0.667 SAS HANCESTRO_0006 UK Biobank 450k 9729 9729 91.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HK1 Glycated haemoglobin HbA1c (30750) EFO_0004541 7.19e-15 7.19 -15 -0.162 -0.216 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 1014.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC4A1 Glycated haemoglobin HbA1c (30750) EFO_0004541 4.95e-14 4.95 -14 -0.147 -0.199 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 1109.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TSHR ICD10 E03: Other hypothyroidism EFO_0004705 1.82e-14 1.82 -14 2.978 3.937 EUR HANCESTRO_0005 UK Biobank 450k GCST90079722 383065 21010 79.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ATP11C Glycated haemoglobin HbA1c (30750) EFO_0004541 1.68e-12 1.68 -12 -0.149 -0.207 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 597.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SPTA1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.72e-47 1.72 -47 -0.575 -0.665 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 364.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON G6PD Glycated haemoglobin HbA1c (30750) EFO_0004541 2.23e-31 2.23 -31 -0.764 -0.919 EAS HANCESTRO_0009 UK Biobank 450k 2117 2117 82.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APC ICD10 Z93.2: Ileostomy status EFO_0002571 1.35e-18 1.35 -18 58.351 144.323 EUR HANCESTRO_0005 UK Biobank 450k GCST90081413 387887 1429 13.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON MFRP MeanSphericalEquivalent started wearing glasses contacts before 40 (RGC) EFO_0004731 1.89e-15 1.89 -15 0.564 0.452 EUR HANCESTRO_0005 UK Biobank 450k GCST90081498 48482 48482 271.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APC ICD10 Z93.2: Ileostomy status EFO_0002571 1.1e-21 1.1 -21 50.818 113.64 EUR HANCESTRO_0005 UK Biobank 450k GCST90081413 387887 1429 16.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD1 ICD10 Q61: Cystic kidney disease EFO_0008615 1.44e-53 1.44 -53 5.689 7.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 134.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 ICD10 Q61: Cystic kidney disease EFO_0008615 4.76e-123 4.76 -123 207.08 322.526 EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 68.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN ICD10 I50: Heart failure EFO_0003144 3.59e-23 3.59 -23 4.454 5.984 EUR HANCESTRO_0005 UK Biobank 450k GCST90080023 387076 8159 73.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON TTN ICD10 I50: Heart failure EFO_0003144 3.07e-34 3.07 -34 3.369 4.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90080023 387076 8159 156.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN ICD10 I50: Heart failure EFO_0003144 1.92e-21 1.92 -21 2.085 2.426 EUR HANCESTRO_0005 UK Biobank 450k GCST90080023 387076 8159 226.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 ICD10 Z94: Transplanted organ and tissue status EFO_0002571 1.28e-60 1.28 -60 121.186 214.823 EUR HANCESTRO_0005 UK Biobank 450k GCST90081418 387906 1305 38.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON IL33 ICD10 J45: Asthma MONDO_0004979 1.12e-11 1.12 -11 0.694 0.771 EUR HANCESTRO_0005 UK Biobank 450k GCST90080141 383974 39436 344.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Weight (23098) EFO_0004338 3.26e-30 3.26 -30 0.314 0.268 EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Weight (23098) EFO_0004338 5.13e-14 5.13 -14 0.194 0.154 EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 1595.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 3.14e-20 3.14 -20 4.628 6.411 EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 58.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SRSF2 ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 8.580000000000001e-21 8.58 -21 17.087 30.973 EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 24.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SHBG Testosterone (30850) EFO_0004908 1.13e-48 1.13 -48 -0.277 -0.32 EUR HANCESTRO_0005 UK Biobank 450k GCST90079042 373826 373826 745.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SHBG Testosterone (30850) EFO_0004908 5.34e-49 5.34 -49 -0.248 -0.287 EUR HANCESTRO_0005 UK Biobank 450k GCST90079042 373826 373826 936.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADAMTS17 Impedance of leg left (23108) HP_0000924 3.15e-13 3.15 -13 -0.071 -0.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 4065.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HGS Forced vital capacity FVC Z score (20257) EFO_0004312 2.55e-14 2.55 -14 0.225 0.179 EUR HANCESTRO_0005 UK Biobank 450k GCST90078389 343302 343302 1655.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CYR61 Impedance of leg left (23108) HP_0000924 3.3e-14 3.3 -14 0.093 0.074 EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 7640.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Impedance of leg left (23108) HP_0000924 1.57e-16 1.57 -16 0.169 0.136 EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 2646.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MSH2 ICD10 Z80.0: Family history of malignant neoplasm of digestive organs EFO_0009640 3.27e-16 3.27 -16 30.302 68.735 EUR HANCESTRO_0005 UK Biobank 450k GCST90081329 385471 9455 15.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON MLH1 ICD10 Z80.0: Family history of malignant neoplasm of digestive organs EFO_0009640 2.03e-17 2.03 -17 20.135 40.262 EUR HANCESTRO_0005 UK Biobank 450k GCST90081329 385471 9455 19.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LRP5 Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 9.79e-14 9.79 -14 -0.443 -0.601 EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 120.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MEPE Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 4.38e-12 4.38 -12 -0.183 -0.255 EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 576.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LRP5 Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 9.79e-14 9.79 -14 -0.443 -0.601 EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 120.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPSB3 Arm fat free mass right (23121) EFO_0004995 1.95e-11 1.95 -11 -0.033 -0.047 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 6512.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Arm fat free mass right (23121) EFO_0004995 3.15e-13 3.15 -13 0.541 0.426 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 92.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON COL6A1 Corneal resistance factor right (5257) EFO_0010067 3.24e-30 3.24 -30 -1.028 -1.24 EUR HANCESTRO_0005 UK Biobank 450k GCST90079336 105888 105888 75.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TTN HF (RGC) EFO_0003144 3.62e-23 3.62 -23 4.453 5.983 EUR HANCESTRO_0005 UK Biobank 450k GCST90081485 387050 8159 73.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON LCORL Arm fat free mass right (23121) EFO_0004995 1.67e-13 1.67 -13 0.327 0.258 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 257.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON G6PC Arm fat free mass right (23121) EFO_0004995 1.14e-11 1.14 -11 -0.07 -0.099 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 1484.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON COL6A1 Corneal resistance factor right (5257) EFO_0010067 3.24e-30 3.24 -30 -1.028 -1.24 EUR HANCESTRO_0005 UK Biobank 450k GCST90079336 105888 105888 75.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACAN Arm fat free mass right (23121) EFO_0004995 1.44e-15 1.44 -15 -0.509 -0.674 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 44.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON TTN HF (RGC) EFO_0003144 1.95e-21 1.95 -21 2.085 2.425 EUR HANCESTRO_0005 UK Biobank 450k GCST90081485 387050 8159 226.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Arm fat free mass right (23121) EFO_0004995 1.8800000000000002e-27 1.88 -27 -0.076 -0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 4403.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PTPN11 Arm fat free mass right (23121) EFO_0004995 1.08e-11 1.08 -11 -0.149 -0.21 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 332.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IHH Standing height (50) EFO_0004339 1.27e-13 1.27 -13 -0.917 -1.247 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 12.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Standing height (50) EFO_0004339 5.49e-64 5.49 -64 -1.305 -1.476 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 44.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON ADAMTSL4 Standing height (50) EFO_0004339 6.46e-16 6.46 -16 -0.074 -0.098 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2329.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Standing height (50) EFO_0004339 2.95e-32 2.95 -32 0.629 0.54 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 161.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MIP Non cancer illness code self reported - cataract MONDO_0005129 7.01e-13 7.01 -13 5.992 9.769 EUR HANCESTRO_0005 UK Biobank 450k GCST90077756 331754 8629 29.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON COL27A1 Standing height (50) EFO_0004339 1.28e-12 1.28 -12 -0.22 -0.305 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 182.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NPR2 Standing height (50) EFO_0004339 9.03e-29 9.03 -29 -0.556 -0.675 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 91.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON IGF1R Standing height (50) EFO_0004339 2.3400000000000003e-27 2.34 -27 -0.162 -0.198 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1009.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Standing height (50) EFO_0004339 2.96e-13 2.96 -13 -0.126 -0.173 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 603.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADAMTS3 Standing height (50) EFO_0004339 6.33e-16 6.33 -16 -0.092 -0.122 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1479.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PIEZO1 Standing height (50) EFO_0004339 4.42e-28 4.42 -28 -0.172 -0.21 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 912.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PIEZO1 Standing height (50) EFO_0004339 1.88e-22 1.88 -22 -0.199 -0.249 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 509.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SHOX Standing height (50) EFO_0004339 3.24e-23 3.24 -23 -0.878 -1.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 27.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Standing height (50) EFO_0004339 1.81e-18 1.81 -18 0.783 0.64 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 63.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON DTL Standing height (50) EFO_0004339 5.23e-25 5.23 -25 -0.404 -0.498 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 146.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON NRK Standing height (50) EFO_0004339 6.07e-12 6.07 -12 0.337 0.262 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 148.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GLI3 Standing height (50) EFO_0004339 6.06e-15 6.06 -15 0.05 0.04 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 13258.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GHRH Standing height (50) EFO_0004339 2.19e-20 2.19 -20 -0.348 -0.441 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 146.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS10 Standing height (50) EFO_0004339 6.4e-18 6.4 -18 -0.477 -0.617 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 65.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MIP Non cancer illness code self reported - cataract MONDO_0005129 1.84e-12 1.84 -12 13.901 28.906 EUR HANCESTRO_0005 UK Biobank 450k GCST90077756 331754 8629 16.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 Type of Cancer: Malignant neoplasm of breast of unspecified site (40006) EFO_0003869 1.34e-13 1.34 -13 2.76 3.61 EUR HANCESTRO_0005 UK Biobank 450k GCST90079107 41005 5931 94.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LOXL2 Standing height (50) EFO_0004339 8.18e-12 8.18 -12 0.09 0.07 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 3232.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET1 Standing height (50) EFO_0004339 2.26e-12 2.26 -12 0.658 0.515 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 62.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SHOX Standing height (50) EFO_0004339 3.24e-23 3.24 -23 -0.878 -1.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 27.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL2 Standing height (50) EFO_0004339 3.14e-16 3.14 -16 -0.198 -0.26 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 330.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SHOX Standing height (50) EFO_0004339 3.24e-23 3.24 -23 -0.878 -1.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 27.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LTBP3 Standing height (50) EFO_0004339 8.16e-14 8.16 -14 -0.061 -0.083 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2723.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACAN Standing height (50) EFO_0004339 2.96e-13 2.96 -13 -0.126 -0.173 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 603.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADAMTSL4 Standing height (50) EFO_0004339 6.46e-16 6.46 -16 -0.074 -0.098 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2329.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IHH Standing height (50) EFO_0004339 5.1199999999999995e-24 5.12 -24 -0.264 -0.327 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 324.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Standing height (50) EFO_0004339 6.6e-118 6.6 -118 0.176 0.162 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 6816.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS17 Standing height (50) EFO_0004339 1.3099999999999999e-52 1.31 -52 -0.121 -0.139 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 4114.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SHOX Standing height (50) EFO_0004339 3.24e-23 3.24 -23 -0.878 -1.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 27.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON DDR2 Standing height (50) EFO_0004339 3.19e-18 3.19 -18 -0.091 -0.118 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1860.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON DTL Standing height (50) EFO_0004339 7.13e-19 7.13 -19 -0.393 -0.505 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 105.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET1 Standing height (50) EFO_0004339 1.04e-13 1.04 -13 0.251 0.198 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 469.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADAMTS3 Standing height (50) EFO_0004339 2.06e-25 2.06 -25 -0.066 -0.081 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 5598.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SHBG Standing height (50) EFO_0004339 1.44e-12 1.44 -12 -0.035 -0.049 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 7062.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FLCN Non cancer illness code self reported - spontaneous pneumothorax recurrent pneumothorax HP_0002108 3.9800000000000006e-21 3.98 -21 24.88 48.514 EUR HANCESTRO_0005 UK Biobank 450k GCST90077685 331754 1058 20.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APC ICD10 Z90.4: Acquired absence of other specified parts of digestive tract EFO_0000405 1.4400000000000001e-21 1.44 -21 16.973 30.37 EUR HANCESTRO_0005 UK Biobank 450k GCST90081392 387855 8508 26.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON APC ICD10 Z90.4: Acquired absence of other specified parts of digestive tract EFO_0000405 1.4400000000000001e-21 1.44 -21 16.973 30.37 EUR HANCESTRO_0005 UK Biobank 450k GCST90081392 387855 8508 26.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON FLCN Non cancer illness code self reported - spontaneous pneumothorax recurrent pneumothorax HP_0002108 1.87e-11 1.87 -11 5.163 8.335 EUR HANCESTRO_0005 UK Biobank 450k GCST90077685 331754 1058 27.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON FLCN Non cancer illness code self reported - spontaneous pneumothorax recurrent pneumothorax HP_0002108 2.25e-17 2.25 -17 57.01 145.144 EUR HANCESTRO_0005 UK Biobank 450k GCST90077685 331754 1058 12.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SMAD6 3mm weak meridian right (5099) EFO_0004731 4.23e-15 4.23 -15 0.931 0.745 EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 89.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SMAD6 3mm weak meridian right (5099) EFO_0004731 1.23e-15 1.23 -15 0.445 0.357 EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 404.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON THBS4 3mm weak meridian right (5099) EFO_0004731 9.6e-22 9.6 -22 -0.231 -0.29 EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 887.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TYRP1 Hair colour natural before greying - Dark brown (1747) EFO_0007822 1.99e-43 1.99 -43 0.51 0.561 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 613.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TYRP1 Hair colour natural before greying - Dark brown (1747) EFO_0007822 1.92e-36 1.92 -36 0.459 0.519 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 364.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC45A2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 5.13e-33 5.13 -33 0.35 0.416 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 162.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC45A2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 5.13e-33 5.13 -33 0.35 0.416 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 162.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC45A2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 1.68e-44 1.68 -44 0.431 0.485 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 376.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON OCA2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 1.21e-14 1.21 -14 0.396 0.501 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 83.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 Monocyte percentage (30190) EFO_0007989 3.63e-15 3.63 -15 0.333 0.266 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 708.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON SH2B3 Monocyte percentage (30190) EFO_0007989 5.06e-14 5.06 -14 -0.083 -0.112 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 3691.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLCO1B3 Direct bilirubin (30660) EFO_0004570 5.82e-90 5.82 -90 0.349 0.318 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 2698.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A1 Direct bilirubin (30660) EFO_0004570 2.96e-19 2.96 -19 0.729 0.598 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 187.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A1 Direct bilirubin (30660) EFO_0004570 6.69e-50 6.69 -50 0.541 0.478 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 805.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MROH2A Direct bilirubin (30660) EFO_0004570 1.45e-13 1.45 -13 -0.094 -0.128 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 2799.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC4A1 Direct bilirubin (30660) EFO_0004570 1.3700000000000002e-21 1.37 -21 1.116 0.926 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 70.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Direct bilirubin (30660) EFO_0004570 2.05e-12 2.05 -12 0.808 0.632 SAS HANCESTRO_0006 UK Biobank 450k 8157 8157 95.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A9 Direct bilirubin (30660) EFO_0004570 4.8299999999999993e-42 4.83 -42 0.4 0.35 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1261.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC4A1 Direct bilirubin (30660) EFO_0004570 1.71e-35 1.71 -35 2.034 1.757 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 33.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON UGT1A7 Direct bilirubin (30660) EFO_0004570 1.91e-38 1.91 -38 0.458 0.398 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 887.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ASXL1 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 2.31e-17 2.31 -17 8.012 12.962 EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 30.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 7.06e-20 7.06 -20 7.643 11.83 EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 36.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ASXL1 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 3.92e-12 3.92 -12 7.97 14.323 EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 20.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON CALR ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 4.3799999999999995e-61 4.38 -61 387.89 787.79 EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 31.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 7.85e-23 7.85 -23 7.624 11.428 EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 42.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Arm predicted mass left (23126) EFO_0004302 4.84e-14 4.84 -14 0.339 0.269 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 257.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IRS1 Arm predicted mass left (23126) EFO_0004302 6.8e-20 6.8 -20 -0.348 -0.443 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 140.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IGFALS Arm predicted mass left (23126) EFO_0004302 4.27e-13 4.27 -13 -0.069 -0.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 1957.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Arm predicted mass left (23126) EFO_0004302 4.41e-26 4.41 -26 0.305 0.257 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 554.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON IRS1 Arm predicted mass left (23126) EFO_0004302 6.8e-20 6.8 -20 -0.348 -0.443 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 140.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Arm predicted mass left (23126) EFO_0004302 1.24e-20 1.24 -20 -0.082 -0.104 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 2642.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACAN Arm predicted mass left (23126) EFO_0004302 8.89e-16 8.89 -16 -0.524 -0.693 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 44.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON TTN Arm predicted mass left (23126) EFO_0004302 7.3e-16 7.3 -16 -0.046 -0.061 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 5843.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Arm predicted mass left (23126) EFO_0004302 6.97e-24 6.97 -24 0.173 0.145 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 1594.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SCUBE3 Arm predicted mass left (23126) EFO_0004302 2.72e-14 2.72 -14 -0.093 -0.125 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 1216.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Arm predicted mass left (23126) EFO_0004302 1.61e-15 1.61 -15 -0.253 -0.335 EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 185.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON TUBB1 Platelet distribution width (30110) EFO_0007984 2.2300000000000002e-307 2.23 -307 1.065 1.022 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1677.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CALR Platelet distribution width (30110) EFO_0007984 1.68e-11 1.68 -11 0.924 0.716 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 71.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH6 ICD10 C54: Malignant neoplasm of corpus uteri EFO_0007532 6.33e-18 6.33 -18 9.093 15.015 EUR HANCESTRO_0005 UK Biobank 450k GCST90079608 211679 1515 29.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON DENND4B Platelet distribution width (30110) EFO_0007984 9.29e-15 9.29 -15 -0.188 -0.252 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 773.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 Platelet distribution width (30110) EFO_0007984 2.68e-30 2.68 -30 0.306 0.262 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1532.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GP1BA Platelet distribution width (30110) EFO_0007984 2.32e-44 2.32 -44 0.476 0.418 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 899.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TUBB1 Platelet distribution width (30110) EFO_0007984 4.72e-12 4.72 -12 1.09 0.849 SAS HANCESTRO_0006 UK Biobank 450k 9952 9952 72.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CD36 Platelet distribution width (30110) EFO_0007984 1.99e-27 1.99 -27 0.193 0.164 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 3610.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TUBB1 Platelet distribution width (30110) EFO_0007984 5.27e-19 5.27 -19 2.322 1.903 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 18.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON CRLF3 Platelet distribution width (30110) EFO_0007984 3.83e-12 3.83 -12 -0.146 -0.203 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 939.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PLEKHO2 Platelet distribution width (30110) EFO_0007984 5.06e-12 5.06 -12 0.88 0.686 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 81.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON FAM65C Platelet distribution width (30110) EFO_0007984 2.92e-14 2.92 -14 -0.179 -0.242 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 814.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APOC3 Platelet distribution width (30110) EFO_0007984 6.28e-20 6.28 -20 -0.137 -0.174 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 2213.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 Platelet distribution width (30110) EFO_0007984 1.6e-21 1.6 -21 0.168 0.14 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 3857.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASXL1 Platelet distribution width (30110) EFO_0007984 1.82e-35 1.82 -35 0.456 0.393 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 823.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON DOCK8 Platelet distribution width (30110) EFO_0007984 1.31e-22 1.31 -22 0.081 0.068 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 17342.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Platelet distribution width (30110) EFO_0007984 4.3700000000000004e-32 4.37 -32 0.291 0.249 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1794.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GP1BB Platelet distribution width (30110) EFO_0007984 2.5300000000000003e-21 2.53 -21 1.42 1.177 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 52.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Platelet distribution width (30110) EFO_0007984 8.95e-17 8.95 -17 0.345 0.279 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 711.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON TUBB1 Platelet distribution width (30110) EFO_0007984 2.2300000000000002e-307 2.23 -307 1.953 1.862 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 382.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOA5 Platelet distribution width (30110) EFO_0007984 1.03e-15 1.03 -15 0.435 0.35 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 421.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOA5 Platelet distribution width (30110) EFO_0007984 1.03e-15 1.03 -15 0.435 0.35 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 421.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PLEKHO2 Platelet distribution width (30110) EFO_0007984 5.06e-12 5.06 -12 0.88 0.686 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 81.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GP1BA Platelet distribution width (30110) EFO_0007984 9.92e-34 9.92 -34 0.951 0.818 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 176.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLFN14 Platelet distribution width (30110) EFO_0007984 1.84e-14 1.84 -14 -0.254 -0.341 EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 406.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 1.0900000000000001e-36 1.09 -36 -2.159 -2.555 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 19.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON POLE Mean corpuscular haemoglobin (30050) EFO_0004527 1.64e-26 1.64 -26 0.181 0.153 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 3802.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SF3B1 Mean corpuscular haemoglobin (30050) EFO_0004527 4.3e-20 4.3 -20 0.495 0.408 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 394.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MED17 Mean corpuscular haemoglobin (30050) EFO_0004527 1.7100000000000003e-21 1.71 -21 -0.427 -0.538 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 243.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASXL1 Mean corpuscular haemoglobin (30050) EFO_0004527 6.34e-12 6.34 -12 -0.127 -0.177 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1167.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PARN Mean corpuscular haemoglobin (30050) EFO_0004527 8.73e-14 8.73 -14 0.211 0.167 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1553.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANKRD12 Mean corpuscular haemoglobin (30050) EFO_0004527 3.17e-14 3.17 -14 -0.28 -0.378 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 312.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CAD Mean corpuscular haemoglobin (30050) EFO_0004527 4.13e-15 4.13 -15 0.597 0.478 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 210.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 6.53e-227 6.53 -227 -2.689 -2.863 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 98.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON E2F8 Mean corpuscular haemoglobin (30050) EFO_0004527 3.76e-14 3.76 -14 0.508 0.403 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 273.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 2.94e-13 2.94 -13 -1.536 -2.1 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 14.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADCK3 Mean corpuscular haemoglobin (30050) EFO_0004527 9.07e-16 9.07 -16 -0.119 -0.158 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 2036.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RTEL1 Mean corpuscular haemoglobin (30050) EFO_0004527 4.31e-14 4.31 -14 0.454 0.361 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 339.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TERT Mean corpuscular haemoglobin (30050) EFO_0004527 2.58e-17 2.58 -17 0.58 0.471 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 250.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CAD Mean corpuscular haemoglobin (30050) EFO_0004527 2.17e-16 2.17 -16 0.696 0.562 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 166.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON E2F4 Mean corpuscular haemoglobin (30050) EFO_0004527 1.9e-21 1.9 -21 2.068 1.714 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 24.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TMPRSS6 Mean corpuscular haemoglobin (30050) EFO_0004527 3e-56 3.0 -56 -0.327 -0.373 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1412.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 1.24e-18 1.24 -18 -1.907 -2.452 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 10.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON BORA Mean corpuscular haemoglobin (30050) EFO_0004527 7.61e-15 7.61 -15 -0.076 -0.101 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 4560.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TFRC Mean corpuscular haemoglobin (30050) EFO_0004527 6.52e-28 6.52 -28 -1.501 -1.829 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 28.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON FAM21C Mean corpuscular haemoglobin (30050) EFO_0004527 2.15e-13 2.15 -13 0.076 0.06 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 11901.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON E2F8 Mean corpuscular haemoglobin (30050) EFO_0004527 3.76e-14 3.76 -14 0.508 0.403 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 273.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GMPR Mean corpuscular haemoglobin (30050) EFO_0004527 1.01e-16 1.01 -16 0.33 0.267 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 779.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON KLF1 Mean corpuscular haemoglobin (30050) EFO_0004527 2.62e-86 2.62 -86 -0.841 -0.934 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 348.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 6.53e-227 6.53 -227 -2.689 -2.863 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 98.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CLSPN Mean corpuscular haemoglobin (30050) EFO_0004527 9.89e-12 9.89 -12 0.448 0.348 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 295.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TFRC Mean corpuscular haemoglobin (30050) EFO_0004527 3.0499999999999997e-23 3.05 -23 -0.39 -0.486 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 326.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 2.3e-23 2.3 -23 -1.72 -2.141 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 21.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TFR2 Mean corpuscular haemoglobin (30050) EFO_0004527 1.2e-11 1.2 -11 0.411 0.319 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 351.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ALAS2 Mean corpuscular haemoglobin (30050) EFO_0004527 8.41e-16 8.41 -16 -0.267 -0.352 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 225.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CLSPN Mean corpuscular haemoglobin (30050) EFO_0004527 2.18e-11 2.18 -11 0.44 0.341 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 298.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TFRC Mean corpuscular haemoglobin (30050) EFO_0004527 5.68e-55 5.68 -55 -1.294 -1.479 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 87.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON AHSP Mean corpuscular haemoglobin (30050) EFO_0004527 1.08e-12 1.08 -12 -0.217 -0.299 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 442.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANKRD12 Mean corpuscular haemoglobin (30050) EFO_0004527 3.17e-14 3.17 -14 -0.28 -0.378 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 312.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 1.24e-18 1.24 -18 -1.907 -2.452 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 10.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 1.04e-103 1.04 -103 -1.922 -2.114 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TFR2 Mean corpuscular haemoglobin (30050) EFO_0004527 3.3e-40 3.3 -40 0.231 0.202 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 3379.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RNF20 Mean corpuscular haemoglobin (30050) EFO_0004527 5.63e-13 5.63 -13 -0.302 -0.414 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 235.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TFRC Mean corpuscular haemoglobin (30050) EFO_0004527 2.17e-15 2.17 -15 -0.579 -0.769 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 83.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON HBB Mean corpuscular haemoglobin (30050) EFO_0004527 2.94e-13 2.94 -13 -1.536 -2.1 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 14.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TMPRSS6 Mean corpuscular haemoglobin (30050) EFO_0004527 6.78e-67 6.78 -67 -0.319 -0.36 EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1822.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 C79: Secondary malignant neoplasm of other and unspecified sites EFO_0009812 1.14e-11 1.14 -11 1.926 2.327 EUR HANCESTRO_0005 UK Biobank 450k GCST90079629 387728 5376 137.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR ICD10 I20.9: Angina pectoris, unspecified EFO_0003913 6e-13 6.0 -13 2.003 2.42 EUR HANCESTRO_0005 UK Biobank 450k GCST90079967 387883 18859 149.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Trunk fat free mass (23129) EFO_0004995 7.32e-15 7.32 -15 0.377 0.301 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 213.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC4R Trunk fat free mass (23129) EFO_0004995 2.5900000000000003e-21 2.59 -21 0.186 0.154 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PAPPA2 Trunk fat free mass (23129) EFO_0004995 2.87e-13 2.87 -13 -0.179 -0.245 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 285.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PAPPA2 Trunk fat free mass (23129) EFO_0004995 2.87e-13 2.87 -13 -0.179 -0.245 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 285.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Trunk fat free mass (23129) EFO_0004995 2.16e-13 2.16 -13 -0.36 -0.491 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 71.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC4R Trunk fat free mass (23129) EFO_0004995 5.9500000000000004e-21 5.95 -21 0.209 0.173 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Trunk fat free mass (23129) EFO_0004995 2.98e-18 2.98 -18 0.628 0.512 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 92.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PRPH2 Eye problems disorders - Macular degeneration (6148) EFO_0009606 7.78e-13 7.78 -13 43.337 121.513 EUR HANCESTRO_0005 UK Biobank 450k GCST90079434 37798 4185 15.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PTPRJ Trunk fat free mass (23129) EFO_0004995 1.57e-11 1.57 -11 -0.152 -0.214 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 316.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON WNT1 Speed of sound through heel (3146) EFO_0005654 4.74e-14 4.74 -14 -0.324 -0.438 EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 236.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LRP5 Speed of sound through heel (3146) EFO_0005654 1.68e-13 1.68 -13 -0.442 -0.602 EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 120.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Trunk fat free mass (23129) EFO_0004995 1.26e-18 1.26 -18 -0.051 -0.066 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 5841.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Trunk fat free mass (23129) EFO_0004995 2.76e-25 2.76 -25 -0.093 -0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 2641.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Trunk fat free mass (23129) EFO_0004995 2.55e-16 2.55 -16 0.457 0.369 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 157.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PTPRJ Trunk fat free mass (23129) EFO_0004995 1.57e-11 1.57 -11 -0.152 -0.214 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 316.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PIEZO1 Trunk fat free mass (23129) EFO_0004995 5.16e-13 5.16 -13 -0.033 -0.045 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 8422.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PRPH2 Eye problems disorders - Macular degeneration (6148) EFO_0009606 7.78e-13 7.78 -13 43.337 121.513 EUR HANCESTRO_0005 UK Biobank 450k GCST90079434 37798 4185 15.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Non cancer illness code self reported - atrial fibrillation/ICD10 I48 EFO_0000275 3.12e-15 3.12 -15 2.351 2.908 EUR HANCESTRO_0005 UK Biobank 450k GCST90077882 329052 3763 116.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NF1 Trunk fat free mass (23129) EFO_0004995 1.65e-12 1.65 -12 -0.196 -0.271 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 217.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Non cancer illness code self reported - atrial fibrillation/ICD10 I48 EFO_0000275 1.06e-18 1.06 -18 2.82 3.55 EUR HANCESTRO_0005 UK Biobank 450k GCST90077882 329052 3763 104.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PTPRJ Trunk fat free mass (23129) EFO_0004995 1.57e-11 1.57 -11 -0.152 -0.214 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 316.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPSB3 Trunk fat free mass (23129) EFO_0004995 5.82e-15 5.82 -15 -0.041 -0.055 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 6510.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LRP5 Speed of sound through heel (3146) EFO_0005654 1.68e-13 1.68 -13 -0.442 -0.602 EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 120.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON WNT1 Speed of sound through heel (3146) EFO_0005654 1.14e-14 1.14 -14 -0.341 -0.458 EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 227.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Trunk fat free mass (23129) EFO_0004995 1.26e-18 1.26 -18 -0.051 -0.066 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 5841.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON STC2 Trunk fat free mass (23129) EFO_0004995 7.67e-26 7.67 -26 0.142 0.119 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 2488.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PAPPA2 Trunk fat free mass (23129) EFO_0004995 2.01e-14 2.01 -14 -0.072 -0.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 2007.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Trunk fat free mass (23129) EFO_0004995 1.26e-18 1.26 -18 -0.051 -0.066 EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 5841.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Non cancer illness code self reported - atrial fibrillation/ICD10 I48 EFO_0000275 3.12e-15 3.12 -15 2.351 2.908 EUR HANCESTRO_0005 UK Biobank 450k GCST90077882 329052 3763 116.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 Mothers age at death (3526) EFO_0007796 2.98e-17 2.98 -17 -0.307 -0.4 EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 406.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON STC2 Arm predicted mass right (23122) EFO_0004302 6.18e-18 6.18 -18 0.119 0.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 2488.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Arm predicted mass right (23122) EFO_0004302 2.6400000000000002e-36 2.64 -36 0.148 0.128 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 3011.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPSB3 Arm predicted mass right (23122) EFO_0004302 7.55e-12 7.55 -12 -0.034 -0.048 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 6512.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Arm predicted mass right (23122) EFO_0004302 1.83e-24 1.83 -24 0.171 0.143 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 1594.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON OCA2 Use of sun uv protection - Never rarely (2267) EFO_0010729 1.49e-11 1.49 -11 0.777 0.836 EUR HANCESTRO_0005 UK Biobank 450k GCST90078879 430409 38347 757.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Forced expiratory volume in 1 second FEV1 (3063) EFO_0004314 9.33e-13 9.33 -13 -0.073 -0.1 EUR HANCESTRO_0005 UK Biobank 450k GCST90079017 395451 395451 2481.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Arm predicted mass right (23122) EFO_0004302 1.92e-13 1.92 -13 0.325 0.256 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 257.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PAPPA2 Arm predicted mass right (23122) EFO_0004302 1.04e-13 1.04 -13 -0.076 -0.104 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 1620.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Arm predicted mass right (23122) EFO_0004302 9.72e-13 9.72 -13 0.362 0.284 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 197.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PAPPA2 Arm predicted mass right (23122) EFO_0004302 1.25e-13 1.25 -13 -0.068 -0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 2007.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Arm predicted mass right (23122) EFO_0004302 3.75e-20 3.75 -20 -0.053 -0.068 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 5844.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SCUBE3 Arm predicted mass right (23122) EFO_0004302 5.65e-14 5.65 -14 -0.069 -0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 2062.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IRS1 Arm predicted mass right (23122) EFO_0004302 1.2199999999999999e-23 1.22 -23 -0.382 -0.475 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 140.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PIEZO1 Arm predicted mass right (23122) EFO_0004302 7.87e-12 7.87 -12 -0.018 -0.025 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 24585.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Arm predicted mass right (23122) EFO_0004302 1.92e-13 1.92 -13 0.325 0.256 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 257.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Arm predicted mass right (23122) EFO_0004302 1.0800000000000001e-27 1.08 -27 -0.076 -0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 4403.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Arm predicted mass right (23122) EFO_0004302 3.75e-20 3.75 -20 -0.053 -0.068 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 5844.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 Mothers age at death (3526) EFO_0007796 3.18e-20 3.18 -20 -0.32 -0.406 EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 469.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Forced expiratory volume in 1 second FEV1 (3063) EFO_0004314 9.33e-13 9.33 -13 -0.073 -0.1 EUR HANCESTRO_0005 UK Biobank 450k GCST90079017 395451 395451 2481.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Arm predicted mass right (23122) EFO_0004302 1.0800000000000001e-27 1.08 -27 -0.076 -0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 4403.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Arm predicted mass right (23122) EFO_0004302 3.75e-20 3.75 -20 -0.053 -0.068 EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 5844.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APC ICD10 D13.1: Benign neoplasm of stomach MONDO_0021449 6.11e-12 6.11 -12 7.238 12.722 EUR HANCESTRO_0005 UK Biobank 450k GCST90079663 387930 1028 21.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GIGYF1 Cholesterol (30690) EFO_0004574 1.55e-19 1.55 -19 -0.522 -0.667 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 154.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCA1 Cholesterol (30690) EFO_0004574 3.6099999999999996e-60 3.61 -60 -0.207 -0.235 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 4117.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANGPTL3 Cholesterol (30690) EFO_0004574 1.76e-17 1.76 -17 -0.066 -0.086 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 8408.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ABCA1 Cholesterol (30690) EFO_0004574 9.57e-19 9.57 -19 -0.33 -0.424 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 365.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ASGR1 Cholesterol (30690) EFO_0004574 1.02e-11 1.02 -11 -0.16 -0.225 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 765.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Cholesterol (30690) EFO_0004574 1.76e-12 1.76 -12 0.811 0.635 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 107.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON RRBP1 Cholesterol (30690) EFO_0004574 1.32e-13 1.32 -13 -0.322 -0.439 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 239.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PCSK9 Cholesterol (30690) EFO_0004574 9.81e-128 9.81 -128 -0.798 -0.869 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 649.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON NPC1L1 Cholesterol (30690) EFO_0004574 1.55e-13 1.55 -13 -0.107 -0.146 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 2161.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR Cholesterol (30690) EFO_0004574 1.3099999999999998e-55 1.31 -55 0.39 0.347 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 1787.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RRBP1 Cholesterol (30690) EFO_0004574 1.77e-13 1.77 -13 -0.357 -0.487 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 192.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PCSK9 Cholesterol (30690) EFO_0004574 4.27e-146 4.27 -146 -0.636 -0.688 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 1188.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB Cholesterol (30690) EFO_0004574 4.97e-36 4.97 -36 -0.579 -0.686 EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 282.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON MPL Platelet count (30080) EFO_0004309 5.7100000000000006e-27 5.71 -27 0.486 0.411 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 527.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ITGB3 Platelet count (30080) EFO_0004309 2.53e-16 2.53 -16 -0.163 -0.214 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1120.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GP1BB Platelet count (30080) EFO_0004309 2.85e-44 2.85 -44 -1.447 -1.683 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 52.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ITGB3 Platelet count (30080) EFO_0004309 3.0599999999999998e-24 3.06 -24 -0.145 -0.179 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 2455.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TUBB1 Platelet count (30080) EFO_0004309 1.4800000000000001e-105 1.48 -105 -0.881 -0.968 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 382.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC30A10 Alanine aminotransferase (30620) EFO_0004735 8.3e-18 8.3 -18 0.268 0.218 EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 1260.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GP1BA Platelet count (30080) EFO_0004309 1.08e-45 1.08 -45 -0.804 -0.933 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 176.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Platelet count (30080) EFO_0004309 2.14e-13 2.14 -13 -0.058 -0.079 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 6669.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 2.2300000000000002e-307 2.23 -307 -1.283 -1.314 EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 3248.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB Alanine aminotransferase (30620) EFO_0004735 6.23e-18 6.23 -18 0.36 0.293 EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 700.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 2.36e-12 2.36 -12 -0.902 -1.252 SAS HANCESTRO_0006 UK Biobank 450k 9830 9830 28.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON KALRN Platelet count (30080) EFO_0004309 6.49e-13 6.49 -13 0.184 0.145 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1893.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TUBB1 Platelet count (30080) EFO_0004309 1.46e-111 1.46 -111 -0.435 -0.477 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1679.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON RUNX1 Platelet count (30080) EFO_0004309 1.11e-13 1.11 -13 -0.931 -1.265 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 26.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON THPO Platelet count (30080) EFO_0004309 2.04e-33 2.04 -33 -0.908 -1.084 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 95.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MPL Platelet count (30080) EFO_0004309 1.4200000000000001e-27 1.42 -27 0.491 0.416 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 527.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LY75-CD302 Platelet count (30080) EFO_0004309 3.82e-15 3.82 -15 0.144 0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 3689.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APOB Alanine aminotransferase (30620) EFO_0004735 6.23e-18 6.23 -18 0.36 0.293 EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 700.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON JAK2 Platelet count (30080) EFO_0004309 1.5100000000000001e-27 1.51 -27 0.891 0.755 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 159.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GFI1B Platelet count (30080) EFO_0004309 4e-18 4.0 -18 -0.243 -0.314 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 586.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IQGAP2 Platelet count (30080) EFO_0004309 7.409999999999999e-23 7.41 -23 -0.105 -0.131 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 4324.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Platelet count (30080) EFO_0004309 9.85e-18 9.85 -18 -0.136 -0.177 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1794.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 1.47e-11 1.47 -11 -1.091 -1.537 SAS HANCESTRO_0006 UK Biobank 450k 9830 9830 14.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON BAK1 Platelet count (30080) EFO_0004309 2.58e-16 2.58 -16 0.407 0.328 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 475.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ABCB4 Alanine aminotransferase (30620) EFO_0004735 1.1699999999999998e-23 1.17 -23 0.236 0.198 EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 2762.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GFI1B Platelet count (30080) EFO_0004309 2.42e-19 2.42 -19 -0.123 -0.158 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 2574.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CALR Platelet count (30080) EFO_0004309 2.46e-84 2.46 -84 2.217 2.014 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 71.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CD36 Platelet count (30080) EFO_0004309 4.87e-12 4.87 -12 -0.073 -0.101 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 3612.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GP1BB Platelet count (30080) EFO_0004309 2.85e-44 2.85 -44 -1.447 -1.683 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 52.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TUBB1 Platelet count (30080) EFO_0004309 1.11e-24 1.11 -24 -0.381 -0.472 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 358.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SH2B3 Platelet count (30080) EFO_0004309 2.35e-12 2.35 -12 0.536 0.419 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 215.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON JAK2 Platelet count (30080) EFO_0004309 3.33e-48 3.33 -48 0.558 0.492 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 675.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ITGA2B Platelet count (30080) EFO_0004309 8.220000000000001e-21 8.22 -21 -0.368 -0.465 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 308.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GP1BB Platelet count (30080) EFO_0004309 2.85e-44 2.85 -44 -1.447 -1.683 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 52.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MPL Platelet count (30080) EFO_0004309 5.9e-19 5.9 -19 0.506 0.415 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 355.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 Platelet count (30080) EFO_0004309 9.85e-18 9.85 -18 -0.136 -0.177 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1794.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MPL Platelet count (30080) EFO_0004309 1.4200000000000001e-27 1.42 -27 0.491 0.416 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 527.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IQGAP2 Platelet count (30080) EFO_0004309 1.9e-34 1.9 -34 -0.237 -0.283 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1431.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Platelet count (30080) EFO_0004309 9.85e-18 9.85 -18 -0.136 -0.177 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1794.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON JAK2 Platelet count (30080) EFO_0004309 4.56e-13 4.56 -13 1.096 0.862 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 54.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON SH2B3 Platelet count (30080) EFO_0004309 1.12e-14 1.12 -14 0.282 0.225 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 908.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GPT Alanine aminotransferase (30620) EFO_0004735 1.4200000000000002e-252 1.42 -252 -1.255 -1.332 EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 526.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SH2B3 Platelet count (30080) EFO_0004309 2.35e-12 2.35 -12 0.536 0.419 EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 215.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 ICD10 D70: Neutropenia MONDO_0001475 3.69e-12 3.69 -12 3.439 4.872 EUR HANCESTRO_0005 UK Biobank 450k GCST90079716 387075 4407 47.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SRSF2 ICD10 D70: Neutropenia MONDO_0001475 6.149999999999999e-28 6.15 -28 17.495 29.19 EUR HANCESTRO_0005 UK Biobank 450k GCST90079716 387075 4407 33.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 ICD10 D70: Neutropenia MONDO_0001475 3.69e-12 3.69 -12 3.439 4.872 EUR HANCESTRO_0005 UK Biobank 450k GCST90079716 387075 4407 47.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 ICD10 Z99: Dependence on enabling machines and devices, not elsewhere classified EFO_0002571 2.89e-32 2.89 -32 20.905 34.6 EUR HANCESTRO_0005 UK Biobank 450k GCST90081445 385473 3699 35.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PKD1 ICD10 Z99: Dependence on enabling machines and devices, not elsewhere classified EFO_0002571 2.48e-18 2.48 -18 4.189 5.778 EUR HANCESTRO_0005 UK Biobank 450k GCST90081445 385473 3699 58.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 ICD10 D70: Neutropenia MONDO_0001475 4.42e-19 4.42 -19 3.546 4.683 EUR HANCESTRO_0005 UK Biobank 450k GCST90079716 387075 4407 75.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 ICD10 Z99: Dependence on enabling machines and devices, not elsewhere classified EFO_0002571 5.390000000000001e-29 5.39 -29 16.379 26.745 EUR HANCESTRO_0005 UK Biobank 450k GCST90081445 385473 3699 35.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SRSF2 ICD10 D70: Neutropenia MONDO_0001475 6.149999999999999e-28 6.15 -28 17.495 29.19 EUR HANCESTRO_0005 UK Biobank 450k GCST90079716 387075 4407 33.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TECTA Hearing difficulty problems - Yes (2247) EFO_0007616 1.44e-16 1.44 -16 1.302 1.386 EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 1601.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON KLHDC7B Hearing difficulty problems background noise - Yes (2257) EFO_0007616 2.97e-18 2.97 -18 1.658 1.857 EUR HANCESTRO_0005 UK Biobank 450k GCST90078878 422872 167296 644.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APC ICD10 K91: Intraoperative and postprocedural complications and disorders of digestive system, not elsewhere classified EFO_0000405 1.1e-15 1.1 -15 31.771 74.012 EUR HANCESTRO_0005 UK Biobank 450k GCST90080318 387834 2050 13.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC26A5 Hearing difficulty problems - Yes (2247) EFO_0007616 2.46e-20 2.46 -20 1.976 2.284 EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 352.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON KLHDC7B Hearing difficulty problems - Yes (2247) EFO_0007616 4.21e-28 4.21 -28 1.962 2.212 EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 511.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC26A5 Hearing difficulty problems - Yes (2247) EFO_0007616 5.84e-13 5.84 -13 2.062 2.511 EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 193.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Hand grip strength left (46) EFO_0006941 1.93e-11 1.93 -11 -0.042 -0.059 EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 5940.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Hand grip strength left (46) EFO_0006941 1.93e-11 1.93 -11 -0.042 -0.059 EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 5940.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EP400 Hand grip strength left (46) EFO_0006941 8.45e-16 8.45 -16 -0.416 -0.55 EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 96.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON LDLR CAD Loose CC (RGC) EFO_0001645 5.01e-12 5.01 -12 3.226 4.498 EUR HANCESTRO_0005 UK Biobank 450k GCST90081465 387011 33971 61.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APOB ICD10 E78: Disorders of lipoprotein metabolism and other lipidemias Orphanet_79062 4.42e-15 4.42 -15 0.29 0.396 EUR HANCESTRO_0005 UK Biobank 450k GCST90079768 372199 51365 30.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR ICD10 E78: Disorders of lipoprotein metabolism and other lipidemias Orphanet_79062 1.2500000000000001e-70 1.25 -70 3.023 3.416 EUR HANCESTRO_0005 UK Biobank 450k GCST90079768 372199 51365 490.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR CAD Loose CC (RGC) EFO_0001645 3.52e-14 3.52 -14 6.989 11.557 EUR HANCESTRO_0005 UK Biobank 450k GCST90081465 387011 33971 33.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TNFSF13 Total protein (30860) EFO_0004536 8.66e-15 8.66 -15 -0.399 -0.534 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 189.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TNFRSF13B Total protein (30860) EFO_0004536 1.19e-11 1.19 -11 -0.197 -0.277 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 534.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON FCGRT Total protein (30860) EFO_0004536 1.6e-32 1.6 -32 -1.091 -1.307 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 74.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON STAB1 Total protein (30860) EFO_0004536 1.17e-15 1.17 -15 0.133 0.107 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 5171.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IQGAP2 Total protein (30860) EFO_0004536 6.11e-12 6.11 -12 -0.094 -0.131 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 2469.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON FCGRT Total protein (30860) EFO_0004536 1.1500000000000002e-27 1.15 -27 -1.373 -1.674 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 38.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ANKRD12 Total protein (30860) EFO_0004536 1.81e-20 1.81 -20 -0.411 -0.521 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 282.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IQGAP2 Total protein (30860) EFO_0004536 2.11e-14 2.11 -14 -0.058 -0.078 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 8714.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TNFSF13 Total protein (30860) EFO_0004536 1.42e-13 1.42 -13 -0.473 -0.644 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 118.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TNFSF13 Total protein (30860) EFO_0004536 8.66e-15 8.66 -15 -0.399 -0.534 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 189.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON STAB1 Total protein (30860) EFO_0004536 7.22e-15 7.22 -15 0.119 0.095 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 6132.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FCGRT Total protein (30860) EFO_0004536 2.11e-13 2.11 -13 -1.413 -1.928 EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 13.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON CHD2 ICD10 C91: Lymphoid leukemia EFO_0004289 1.26e-20 1.26 -20 176.717 525.149 EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 11.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON SF3B1 ICD10 C91: Lymphoid leukemia EFO_0004289 2.43e-14 2.43 -14 25.316 58.09 EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 13.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON CHD2 ICD10 C91: Lymphoid leukemia EFO_0004289 6.34e-15 6.34 -15 44.191 114.533 EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 11.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC9A3R2 Diastolic blood pressure automated reading (4079) EFO_0006336 4.79e-18 4.79 -18 -0.08 -0.104 EUR HANCESTRO_0005 UK Biobank 450k GCST90079145 408215 408215 6337.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CHD2 ICD10 C91: Lymphoid leukemia EFO_0004289 8.7e-17 8.7 -17 70.944 193.584 EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 11.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN ICD10 I42: Cardiomyopathy EFO_0000318 1.61e-48 1.61 -48 5.313 6.645 EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 128.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 I42: Cardiomyopathy EFO_0000318 4.57e-36 4.57 -36 12.514 18.575 EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 50.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON TP53 ICD10 C91: Lymphoid leukemia EFO_0004289 2.99e-14 2.99 -14 13.885 27.368 EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 17.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MYBPC3 ICD10 I42: Cardiomyopathy EFO_0000318 4.51e-25 4.51 -25 31.625 60.852 EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 22.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PROS1 VTE PE CC (RGC) EFO_0004286 2.48e-17 2.48 -17 6.359 9.757 EUR HANCESTRO_0005 UK Biobank 450k GCST90081536 376456 5226 37.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PALB2 Type of Cancer: Malignant neoplasm of breast (40006) EFO_0003869 5.19e-12 5.19 -12 3.448 4.901 EUR HANCESTRO_0005 UK Biobank 450k GCST90079108 41005 12472 77.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH2 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 5.5e-21 5.5 -21 17.317 31.385 EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 25.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 Type of Cancer: Malignant neoplasm of breast (40006) EFO_0003869 7.49e-12 7.49 -12 3.422 4.866 EUR HANCESTRO_0005 UK Biobank 450k GCST90079108 41005 12472 79.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 Type of Cancer: Malignant neoplasm of breast (40006) EFO_0003869 5.26e-15 5.26 -15 1.849 2.157 EUR HANCESTRO_0005 UK Biobank 450k GCST90079108 41005 12472 318.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MLH1 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 1.41e-18 1.41 -18 13.137 23.319 EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 25.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MSH6 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 4.04e-18 4.04 -18 5.998 8.989 EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 41.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 3mm weak meridian left (5096) EFO_0004731 1.29e-18 1.29 -18 0.923 0.755 EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 109.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON WNT1 Heel bone mineral density BMD right (4124) EFO_0009270 5.88e-13 5.88 -13 -0.359 -0.493 EUR HANCESTRO_0005 UK Biobank 450k GCST90079158 166266 166266 164.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON OCA2 Skin colour - Very fair (1717) EFO_0003784 1.92e-46 1.92 -46 2.929 3.393 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 294.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANKRD12 Index of Multiple Deprivation England (26410) EFO_0009711 9.19e-13 9.19 -13 0.534 0.419 EUR HANCESTRO_0005 UK Biobank 450k GCST90078952 369491 369491 273.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IFT140 ICD10 N28.1: Cyst of kidney, acquired EFO_0009690 1.16e-18 1.16 -18 8.24 13.166 EUR HANCESTRO_0005 UK Biobank 450k GCST90080592 387926 1824 32.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC45A2 Skin colour - Very fair (1717) EFO_0003784 3.43e-25 3.43 -25 2.877 3.513 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 163.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GAS8 Skin colour - Very fair (1717) EFO_0003784 2.92e-20 2.92 -20 1.433 1.547 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 846.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 3mm weak meridian left (5096) EFO_0004731 4.96e-15 4.96 -15 0.934 0.747 EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 88.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON THBS4 3mm weak meridian left (5096) EFO_0004731 9.24e-20 9.24 -20 -0.216 -0.275 EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 889.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MFRP 3mm weak meridian left (5096) EFO_0004731 1.81e-11 1.81 -11 0.32 0.248 EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 594.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON FANCA Skin colour - Very fair (1717) EFO_0003784 1.98e-14 1.98 -14 0.692 0.761 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 428.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON OCA2 Skin colour - Very fair (1717) EFO_0003784 7.45e-28 7.45 -28 5.326 7.186 EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 85.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 Treatment or Medication Code - doxazosin EFO_0007010 2.9e-14 2.9 -14 9.33 16.593 EUR HANCESTRO_0005 UK Biobank 450k GCST90078093 320758 5111 23.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON APC ICD10 D12.6: Benign neoplasm of colon, unspecified EFO_0002422 3.66e-30 3.66 -30 47.964 93.242 EUR HANCESTRO_0005 UK Biobank 450k GCST90079659 387930 2672 24.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APOB ICD10 E78.0: Pure hypercholesterolemia HP_0003124 4.86e-13 4.86 -13 0.303 0.419 EUR HANCESTRO_0005 UK Biobank 450k GCST90079766 378271 45730 27.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR ICD10 E78.0: Pure hypercholesterolemia HP_0003124 3.25e-54 3.25 -54 2.721 3.089 EUR HANCESTRO_0005 UK Biobank 450k GCST90079766 378271 45730 423.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 Treatment or Medication Code - doxazosin EFO_0007010 1.22e-12 1.22 -12 7.583 13.263 EUR HANCESTRO_0005 UK Biobank 450k GCST90078093 320758 5111 23.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR ICD10 E78.0: Pure hypercholesterolemia HP_0003124 4.85e-12 4.85 -12 2.869 3.868 EUR HANCESTRO_0005 UK Biobank 450k GCST90079766 378271 45730 77.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR ICD10 E78.0: Pure hypercholesterolemia HP_0003124 4.85e-12 4.85 -12 2.869 3.868 EUR HANCESTRO_0005 UK Biobank 450k GCST90079766 378271 45730 77.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APC ICD10 D12.6: Benign neoplasm of colon, unspecified EFO_0002422 3.66e-30 3.66 -30 47.964 93.242 EUR HANCESTRO_0005 UK Biobank 450k GCST90079659 387930 2672 24.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOB ICD10 E78.0: Pure hypercholesterolemia HP_0003124 4.86e-13 4.86 -13 0.303 0.419 EUR HANCESTRO_0005 UK Biobank 450k GCST90079766 378271 45730 27.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Weight (21002) EFO_0004338 2.96e-14 2.96 -14 0.327 0.26 EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 567.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC4R Weight (21002) EFO_0004338 2.4800000000000002e-29 2.48 -29 0.307 0.262 EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 1223.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TADA1 Mean platelet thrombocyte volume (30100) EFO_0004584 5.77e-17 5.77 -17 0.48 0.389 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 339.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PTPRJ Mean platelet thrombocyte volume (30100) EFO_0004584 7.23e-25 7.23 -25 -0.395 -0.488 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 317.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON OCA2 Hair colour natural before greying - Blonde (1747) EFO_0007822 2.04e-75 2.04 -75 3.353 3.815 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 430.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SVEP1 Mean platelet thrombocyte volume (30100) EFO_0004584 4.25e-15 4.25 -15 -0.18 -0.239 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 761.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TPM4 Mean platelet thrombocyte volume (30100) EFO_0004584 1.43e-12 1.43 -12 1.19 0.932 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 41.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TUBB1 Mean platelet thrombocyte volume (30100) EFO_0004584 4.8200000000000006e-27 4.82 -27 0.567 0.48 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 358.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ELOVL7 Mean platelet thrombocyte volume (30100) EFO_0004584 1.33e-13 1.33 -13 0.299 0.236 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 705.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON DIAPH1 Mean platelet thrombocyte volume (30100) EFO_0004584 2.08e-11 2.08 -11 0.702 0.543 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 109.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC4R Weight (21002) EFO_0004338 2.17e-16 2.17 -16 0.582 0.47 EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 202.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SVEP1 Mean platelet thrombocyte volume (30100) EFO_0004584 1.04e-12 1.04 -12 -0.109 -0.151 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1586.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MYO9B Mean platelet thrombocyte volume (30100) EFO_0004584 1.07e-13 1.07 -13 0.135 0.107 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 3457.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC12A9 Hair colour natural before greying - Blonde (1747) EFO_0007822 1.8899999999999997e-23 1.89 -23 2.768 3.381 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 172.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON KIAA1109 Mean platelet thrombocyte volume (30100) EFO_0004584 7.88e-20 7.88 -20 -0.253 -0.322 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 566.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TYR Hair colour natural before greying - Blonde (1747) EFO_0007822 3.48e-13 3.48 -13 2.472 3.155 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 107.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TYR Hair colour natural before greying - Blonde (1747) EFO_0007822 4.94e-41 4.94 -41 2.121 2.368 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 515.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MOB3C Mean platelet thrombocyte volume (30100) EFO_0004584 8.67e-19 8.67 -19 -0.201 -0.258 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 862.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TRIM58 Mean platelet thrombocyte volume (30100) EFO_0004584 5.08e-14 5.08 -14 -0.047 -0.063 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 11951.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON KALRN Mean platelet thrombocyte volume (30100) EFO_0004584 8.87e-118 8.87 -118 -0.415 -0.454 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1893.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON KIAA1109 Mean platelet thrombocyte volume (30100) EFO_0004584 6.16e-19 6.16 -19 -0.194 -0.249 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 900.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON RHOF Mean platelet thrombocyte volume (30100) EFO_0004584 3.05e-34 3.05 -34 0.489 0.422 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 632.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GAS8 Hair colour natural before greying - Blonde (1747) EFO_0007822 6.88e-12 6.88 -12 1.282 1.377 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 1059.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GP1BA Mean platelet thrombocyte volume (30100) EFO_0004584 3.05e-50 3.05 -50 1.495 1.322 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 91.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TNFRSF13B Mean platelet thrombocyte volume (30100) EFO_0004584 3.03e-18 3.03 -18 -0.068 -0.088 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 7148.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON OCA2 Hair colour natural before greying - Blonde (1747) EFO_0007822 7.55e-28 7.55 -28 4.056 5.213 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 120.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PTPRJ Mean platelet thrombocyte volume (30100) EFO_0004584 7.23e-25 7.23 -25 -0.395 -0.488 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 317.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GP1BB Mean platelet thrombocyte volume (30100) EFO_0004584 1.67e-58 1.67 -58 2.104 1.876 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 52.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MEN1 ICD10 E21.3: Hyperparathyroidism, unspecified EFO_0008506 4.85e-12 4.85 -12 298.59 1503.59 EUR HANCESTRO_0005 UK Biobank 450k GCST90079752 387820 512 5.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TYRP1 Hair colour natural before greying - Blonde (1747) EFO_0007822 8.85e-41 8.85 -41 1.54 1.641 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 1428.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GP1BB Mean platelet thrombocyte volume (30100) EFO_0004584 1.67e-58 1.67 -58 2.104 1.876 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 52.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON DENND2C Mean platelet thrombocyte volume (30100) EFO_0004584 4.2900000000000003e-47 4.29 -47 0.122 0.107 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 13501.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BIN2 Mean platelet thrombocyte volume (30100) EFO_0004584 6.74e-14 6.74 -14 -0.226 -0.306 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 452.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SDPR Mean platelet thrombocyte volume (30100) EFO_0004584 1.48e-13 1.48 -13 -0.168 -0.229 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 751.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GP1BA Mean platelet thrombocyte volume (30100) EFO_0004584 6.460000000000001e-47 6.46 -47 1.465 1.29 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 89.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON EXOC3L4 Mean platelet thrombocyte volume (30100) EFO_0004584 7.47e-20 7.47 -20 -0.235 -0.299 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 661.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ELOVL7 Mean platelet thrombocyte volume (30100) EFO_0004584 5.3800000000000005e-21 5.38 -21 0.253 0.209 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1448.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TUBB1 Mean platelet thrombocyte volume (30100) EFO_0004584 6.63e-96 6.63 -96 0.469 0.428 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1678.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ARHGAP10 Mean platelet thrombocyte volume (30100) EFO_0004584 2.63e-14 2.63 -14 0.34 0.27 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 562.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IQGAP2 Mean platelet thrombocyte volume (30100) EFO_0004584 1.61e-30 1.61 -30 0.673 0.575 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 286.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GP1BB Mean platelet thrombocyte volume (30100) EFO_0004584 1.2599999999999999e-30 1.26 -30 2.259 1.93 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 25.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TYR Hair colour natural before greying - Blonde (1747) EFO_0007822 6.69e-17 6.69 -17 2.343 2.861 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 158.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ARHGAP10 Mean platelet thrombocyte volume (30100) EFO_0004584 2.63e-14 2.63 -14 0.34 0.27 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 562.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TPM4 Mean platelet thrombocyte volume (30100) EFO_0004584 1.43e-12 1.43 -12 1.19 0.932 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 41.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Mean platelet thrombocyte volume (30100) EFO_0004584 3.62e-16 3.62 -16 0.202 0.163 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1779.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ITGA2B Mean platelet thrombocyte volume (30100) EFO_0004584 2.02e-13 2.02 -13 0.397 0.314 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 393.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ITGA2B Mean platelet thrombocyte volume (30100) EFO_0004584 1.02e-14 1.02 -14 0.467 0.373 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 308.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TYR Hair colour natural before greying - Blonde (1747) EFO_0007822 6.69e-17 6.69 -17 2.343 2.861 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 158.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CALR Mean platelet thrombocyte volume (30100) EFO_0004584 1.21e-14 1.21 -14 -0.576 -0.772 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 71.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IQGAP2 Mean platelet thrombocyte volume (30100) EFO_0004584 7.83e-143 7.83 -143 0.355 0.329 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 4323.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PTPRJ Mean platelet thrombocyte volume (30100) EFO_0004584 1.68e-26 1.68 -26 -0.459 -0.563 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 255.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON CHEK2 Mean platelet thrombocyte volume (30100) EFO_0004584 2.94e-19 2.94 -19 0.175 0.143 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 2756.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON OCA2 Hair colour natural before greying - Blonde (1747) EFO_0007822 2.3799999999999998e-45 2.38 -45 7.065 9.266 EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 123.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MFSD2B Mean platelet thrombocyte volume (30100) EFO_0004584 1.79e-20 1.79 -20 -0.086 -0.109 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 5852.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PEAR1 Mean platelet thrombocyte volume (30100) EFO_0004584 3.27e-16 3.27 -16 -0.144 -0.19 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1360.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IRS1 Weight (21002) EFO_0004338 1.65e-11 1.65 -11 -0.324 -0.456 EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 145.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SDPR Mean platelet thrombocyte volume (30100) EFO_0004584 2.27e-19 2.27 -19 -0.468 -0.599 EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 162.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GCK T2D New Strict CC (RGC) MONDO_0005148 1.63e-13 1.63 -13 26.912 64.549 EUR HANCESTRO_0005 UK Biobank 450k GCST90081517 352271 11970 14.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GCK T2D New Strict CC (RGC) MONDO_0005148 3.95e-25 3.95 -25 6.493 9.251 EUR HANCESTRO_0005 UK Biobank 450k GCST90081517 352271 11970 58.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR ICD10 I25.1: Atherosclerotic heart disease of native coronary artery EFO_0001645 2.24e-18 2.24 -18 2.159 2.566 EUR HANCESTRO_0005 UK Biobank 450k GCST90079978 387911 23129 192.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR ICD10 I25.1: Atherosclerotic heart disease of native coronary artery EFO_0001645 2.24e-18 2.24 -18 2.159 2.566 EUR HANCESTRO_0005 UK Biobank 450k GCST90079978 387911 23129 192.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GOT1 Aspartate aminotransferase (30650) EFO_0004736 1.05e-127 1.05 -127 -1.876 -2.042 EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 117.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC30A10 Aspartate aminotransferase (30650) EFO_0004736 2.2e-26 2.2 -26 0.324 0.274 EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 1255.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APOB Aspartate aminotransferase (30650) EFO_0004736 3.05e-18 3.05 -18 0.368 0.3 EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 697.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CTSD Aspartate aminotransferase (30650) EFO_0004736 1.76e-11 1.76 -11 0.275 0.213 EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 825.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK T2D New Strict CC (RGC) MONDO_0005148 4.83e-31 4.83 -31 9.398 13.729 EUR HANCESTRO_0005 UK Biobank 450k GCST90081517 352271 11970 56.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GCK T2D New Strict CC (RGC) MONDO_0005148 1.6500000000000002e-26 1.65 -26 14.99 24.664 EUR HANCESTRO_0005 UK Biobank 450k GCST90081517 352271 11970 37.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LDLR ICD10 I25.1: Atherosclerotic heart disease of native coronary artery EFO_0001645 1.33e-17 1.33 -17 2.293 2.775 EUR HANCESTRO_0005 UK Biobank 450k GCST90079978 387911 23129 160.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GOT1 Aspartate aminotransferase (30650) EFO_0004736 2.95e-299 2.95 -299 -1.516 -1.601 EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 451.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GOT1 Aspartate aminotransferase (30650) EFO_0004736 9.030000000000001e-210 9.03 -210 -1.676 -1.79 EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 252.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Whole body water mass (23102) EFO_0009805 6.85e-23 6.85 -23 -0.087 -0.109 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 2643.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Whole body water mass (23102) EFO_0009805 2.93e-23 2.93 -23 -0.069 -0.085 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 4404.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Whole body water mass (23102) EFO_0009805 1.34e-12 1.34 -12 0.392 0.307 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 170.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PAPPA2 Whole body water mass (23102) EFO_0009805 2.18e-14 2.18 -14 -0.072 -0.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 2008.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Whole body water mass (23102) EFO_0009805 3.06e-14 3.06 -14 0.384 0.306 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 197.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IRS1 Whole body water mass (23102) EFO_0009805 2.74e-23 2.74 -23 -0.383 -0.477 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 140.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Whole body water mass (23102) EFO_0009805 6.82e-18 6.82 -18 -0.567 -0.733 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 44.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON IRS1 Whole body water mass (23102) EFO_0009805 2.74e-23 2.74 -23 -0.383 -0.477 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 140.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ABCB4 ICD10 K80: Cholelithiasis EFO_0004799 9.86e-14 9.86 -14 3.119 4.209 EUR HANCESTRO_0005 UK Biobank 450k GCST90080297 385441 17665 66.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Whole body water mass (23102) EFO_0009805 2.93e-23 2.93 -23 -0.069 -0.085 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 4404.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Whole body water mass (23102) EFO_0009805 3.39e-26 3.39 -26 0.232 0.195 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Whole body water mass (23102) EFO_0009805 1.07e-26 1.07 -26 0.206 0.174 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GHRH Whole body water mass (23102) EFO_0009805 1.97e-13 1.97 -13 -0.254 -0.347 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 143.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PAPPA2 Whole body water mass (23102) EFO_0009805 9.33e-12 9.33 -12 -0.163 -0.229 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 285.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Whole body water mass (23102) EFO_0009805 1.77e-16 1.77 -16 0.36 0.291 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 257.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Whole body water mass (23102) EFO_0009805 1.34e-12 1.34 -12 0.392 0.307 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 170.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Whole body water mass (23102) EFO_0009805 1.07e-15 1.07 -15 0.45 0.362 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 157.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGFALS Whole body water mass (23102) EFO_0009805 6.32e-15 6.32 -15 -0.075 -0.1 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 1958.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PAPPA2 Whole body water mass (23102) EFO_0009805 9.33e-12 9.33 -12 -0.163 -0.229 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 285.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Whole body water mass (23102) EFO_0009805 1.34e-12 1.34 -12 0.392 0.307 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 170.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Whole body water mass (23102) EFO_0009805 4.26e-16 4.26 -16 0.486 0.391 EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 138.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC22A12 Urate (30880) EFO_0004531 8.949999999999999e-48 8.95 -48 -0.642 -0.742 AFR HANCESTRO_0010 UK Biobank 450k 8534 8534 283.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK TAG ProbableT2D (RGC) MONDO_0005148 2.32e-21 2.32 -21 23.874 45.974 EUR HANCESTRO_0005 UK Biobank 450k GCST90081526 426342 17719 25.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CLDN10 Urea (30670) EFO_0009795 1.69e-17 1.69 -17 0.399 0.324 EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 582.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GCK ICD10 E11.9: Type 2 diabetes mellitus without complications MONDO_0005148 1.96e-24 1.96 -24 24.365 45.001 EUR HANCESTRO_0005 UK Biobank 450k GCST90079741 385838 26590 32.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC22A12 Urate (30880) EFO_0004531 4.2399999999999996e-67 4.24 -67 -1.228 -1.385 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 96.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ABCG2 Urate (30880) EFO_0004531 1.98e-28 1.98 -28 0.202 0.171 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 2748.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC22A12 Urate (30880) EFO_0004531 1.57e-16 1.57 -16 -0.789 -1.034 EAS HANCESTRO_0009 UK Biobank 450k 2106 2106 38.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON COL4A4 Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 2.89e-20 2.89 -20 0.947 0.781 EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 128.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GCK ICD10 E11.9: Type 2 diabetes mellitus without complications MONDO_0005148 1.96e-24 1.96 -24 24.365 45.001 EUR HANCESTRO_0005 UK Biobank 450k GCST90079741 385838 26590 32.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PDZK1 Urate (30880) EFO_0004531 9.809999999999999e-48 9.81 -48 -0.471 -0.545 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 437.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON COL4A4 Urate (30880) EFO_0004531 1.02e-14 1.02 -14 0.291 0.232 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 683.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC34A3 Urea (30670) EFO_0009795 2.63e-14 2.63 -14 0.182 0.145 EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 2360.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON COL4A3 Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 4.63e-15 4.63 -15 0.176 0.141 EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 2864.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PRPSAP1 Urate (30880) EFO_0004531 1.57e-12 1.57 -12 0.267 0.209 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 700.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON COL4A4 Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 2.3e-20 2.3 -20 1.029 0.849 EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 109.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON COL4A3 Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 1.13e-18 1.13 -18 0.601 0.492 EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 296.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LRP2 Urate (30880) EFO_0004531 5.36e-19 5.36 -19 0.122 0.1 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 4932.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON COL4A3 Urea (30670) EFO_0009795 9.96e-12 9.96 -12 0.089 0.069 EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 8331.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GCK ICD10 E11.9: Type 2 diabetes mellitus without complications MONDO_0005148 3.9000000000000004e-27 3.9 -27 4.599 6.068 EUR HANCESTRO_0005 UK Biobank 450k GCST90079741 385838 26590 93.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC2A9 Urate (30880) EFO_0004531 1.03e-41 1.03 -41 -0.772 -0.902 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 148.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ABCG2 Urate (30880) EFO_0004531 1.21e-21 1.21 -21 0.303 0.252 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 951.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GCK ICD10 E11.9: Type 2 diabetes mellitus without complications MONDO_0005148 3.9000000000000004e-27 3.9 -27 4.599 6.068 EUR HANCESTRO_0005 UK Biobank 450k GCST90079741 385838 26590 93.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC22A12 Urate (30880) EFO_0004531 4.2399999999999996e-67 4.24 -67 -1.228 -1.385 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 96.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC2A9 Urate (30880) EFO_0004531 4.3500000000000003e-26 4.35 -26 -0.634 -0.778 SAS HANCESTRO_0006 UK Biobank 450k 9833 9833 135.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC22A12 Urate (30880) EFO_0004531 4.2399999999999996e-67 4.24 -67 -1.228 -1.385 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 96.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC5A2 Urate (30880) EFO_0004531 3.93e-15 3.93 -15 -0.1 -0.133 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 2154.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC2A9 Urate (30880) EFO_0004531 3.75e-46 3.75 -46 -0.601 -0.697 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 276.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON CLDN10 Urea (30670) EFO_0009795 1.82e-11 1.82 -11 0.795 0.616 EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 101.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK TAG ProbableT2D (RGC) MONDO_0005148 2.32e-21 2.32 -21 23.874 45.974 EUR HANCESTRO_0005 UK Biobank 450k GCST90081526 426342 17719 25.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PRPSAP1 Urate (30880) EFO_0004531 1.57e-12 1.57 -12 0.267 0.209 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 700.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PDZK1 Urate (30880) EFO_0004531 9.809999999999999e-48 9.81 -48 -0.471 -0.545 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 437.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PDZK1 Urate (30880) EFO_0004531 9.809999999999999e-48 9.81 -48 -0.471 -0.545 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 437.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON COL4A4 Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 8.39e-85 8.39 -85 0.975 0.886 EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 447.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ABCG2 Urate (30880) EFO_0004531 4.66e-15 4.66 -15 0.243 0.194 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 1073.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HNF1A ICD10 E11.9: Type 2 diabetes mellitus without complications MONDO_0005148 1.04e-11 1.04 -11 5.844 9.72 EUR HANCESTRO_0005 UK Biobank 450k GCST90079741 385838 26590 29.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD1 Urea (30670) EFO_0009795 3.53e-29 3.53 -29 0.688 0.586 EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 311.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 Urea (30670) EFO_0009795 2.05e-11 2.05 -11 0.366 0.283 EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 476.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON CLDN10 Urea (30670) EFO_0009795 1.82e-11 1.82 -11 0.795 0.616 EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 101.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ABCG2 Urate (30880) EFO_0004531 1.98e-28 1.98 -28 0.202 0.171 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 2748.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HNF1A TAG ProbableT2D (RGC) MONDO_0005148 1.15e-11 1.15 -11 7.193 12.716 EUR HANCESTRO_0005 UK Biobank 450k GCST90081526 426342 17719 23.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC2A9 Urate (30880) EFO_0004531 1.7999999999999998e-138 1.8 -138 -0.63 -0.683 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 887.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON G6PC Urate (30880) EFO_0004531 1.18e-12 1.18 -12 0.186 0.146 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 1451.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC22A12 Urate (30880) EFO_0004531 5.28e-47 5.28 -47 -1.201 -1.39 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 66.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON XDH Urate (30880) EFO_0004531 7.05e-15 7.05 -15 -0.038 -0.05 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 15221.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ABCG2 Urate (30880) EFO_0004531 1.21e-21 1.21 -21 0.303 0.252 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 951.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON COL4A3 Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 3.09e-20 3.09 -20 0.413 0.341 EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 675.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CUBN Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 9.79e-22 9.79 -22 0.344 0.286 EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 1034.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC2A9 Urate (30880) EFO_0004531 2.61e-20 2.61 -20 -0.622 -0.79 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 90.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PYGM Urate (30880) EFO_0004531 2.56e-13 2.56 -13 0.066 0.052 EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 12577.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A8 ICD10 E80: Disorders of porphyrin and bilirubin metabolism Orphanet_309824 1.34e-11 1.34 -11 11.024 22.099 EUR HANCESTRO_0005 UK Biobank 450k GCST90079769 387166 614 15.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 Ankle spacing width right (4119) EFO_0004324 1.26e-13 1.26 -13 0.623 0.493 EUR HANCESTRO_0005 UK Biobank 450k GCST90079154 166358 166358 151.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A1 ICD10 E80: Disorders of porphyrin and bilirubin metabolism Orphanet_309824 2.91e-15 2.91 -15 13.923 26.773 EUR HANCESTRO_0005 UK Biobank 450k GCST90079769 387166 614 18.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON UGT1A1 ICD10 E80: Disorders of porphyrin and bilirubin metabolism Orphanet_309824 8.52e-13 8.52 -13 9.933 18.635 EUR HANCESTRO_0005 UK Biobank 450k GCST90079769 387166 614 18.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TSHR Non cancer illness code self reported - hypothyroidism myxoedema/ICD10 E03 EFO_0004705 2.52e-13 2.52 -13 3.018 4.057 EUR HANCESTRO_0005 UK Biobank 450k GCST90077731 329052 18362 71.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A1 ICD10 E80: Disorders of porphyrin and bilirubin metabolism Orphanet_309824 8.52e-13 8.52 -13 9.933 18.635 EUR HANCESTRO_0005 UK Biobank 450k GCST90079769 387166 614 18.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Leg predicted mass left (23118) EFO_0004302 2.1e-14 2.1 -14 -0.5 -0.672 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 44.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON IRS1 Leg predicted mass left (23118) EFO_0004302 1.2e-16 1.2 -16 -0.313 -0.41 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 140.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HMCN1 Sitting height (20015) EFO_0011011 1.34e-12 1.34 -12 0.181 0.142 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1111.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Sitting height (20015) EFO_0011011 3.84e-18 3.84 -18 -0.058 -0.075 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 5952.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R Sitting height (20015) EFO_0011011 2.9e-24 2.9 -24 -0.227 -0.281 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 575.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON COL1A1 Sitting height (20015) EFO_0011011 8.93e-12 8.93 -12 -0.38 -0.533 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 72.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PIEZO1 Sitting height (20015) EFO_0011011 2.02e-11 2.02 -11 -0.081 -0.114 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1517.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGF1R Sitting height (20015) EFO_0011011 2.15e-18 2.15 -18 -0.116 -0.15 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1506.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB ICD10 D56: Thalassemia 1.2999999999999999e-46 1.3 -46 63.155 111.312 SAS HANCESTRO_0006 UK Biobank 450k 9238 112 43.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HMCN1 Sitting height (20015) EFO_0011011 1.34e-12 1.34 -12 0.181 0.142 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1111.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IRS1 Sitting height (20015) EFO_0011011 7.94e-16 7.94 -16 -0.337 -0.445 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 145.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADAMTS17 Sitting height (20015) EFO_0011011 1.75e-16 1.75 -16 -0.084 -0.11 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 2488.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Leg predicted mass left (23118) EFO_0004302 2.43e-19 2.43 -19 -0.172 -0.22 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 568.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACAN Sitting height (20015) EFO_0011011 2.3700000000000002e-36 2.37 -36 -1.062 -1.258 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 44.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON IGF1R Leg predicted mass left (23118) EFO_0004302 3.89e-19 3.89 -19 -0.129 -0.166 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 995.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGFALS Sitting height (20015) EFO_0011011 1.05e-11 1.05 -11 -0.052 -0.074 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 3747.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Sitting height (20015) EFO_0011011 2.98e-20 2.98 -20 0.768 0.633 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 93.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SCUBE3 Sitting height (20015) EFO_0011011 2.8800000000000002e-21 2.88 -21 -0.11 -0.138 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 2094.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Sitting height (20015) EFO_0011011 1.56e-73 1.56 -73 0.162 0.146 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 6819.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Sitting height (20015) EFO_0011011 3.0800000000000004e-37 3.08 -37 -0.664 -0.785 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 116.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Leg predicted mass left (23118) EFO_0004302 1.88e-13 1.88 -13 0.34 0.268 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 257.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Sitting height (20015) EFO_0011011 2.51e-16 2.51 -16 0.415 0.335 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 263.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Sitting height (20015) EFO_0011011 3.56e-15 3.56 -15 0.441 0.353 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 219.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GHRH Sitting height (20015) EFO_0011011 2.58e-14 2.58 -14 -0.31 -0.417 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 146.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IRS1 Leg predicted mass left (23118) EFO_0004302 1.2e-16 1.2 -16 -0.313 -0.41 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 140.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Sitting height (20015) EFO_0011011 8.8e-48 8.8 -48 -1.041 -1.203 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 64.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC4R Leg predicted mass left (23118) EFO_0004302 1.38e-31 1.38 -31 0.23 0.197 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SCUBE3 Sitting height (20015) EFO_0011011 2.8800000000000002e-21 2.88 -21 -0.11 -0.138 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 2094.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PAPPA2 Sitting height (20015) EFO_0011011 1.51e-13 1.51 -13 -0.08 -0.109 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 2053.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Leg predicted mass left (23118) EFO_0004302 1.01e-16 1.01 -16 0.427 0.345 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 197.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Leg predicted mass left (23118) EFO_0004302 1.02e-16 1.02 -16 -0.466 -0.61 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 63.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACAN Leg predicted mass left (23118) EFO_0004302 1.02e-16 1.02 -16 -0.466 -0.61 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 63.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON WNT1 Sitting height (20015) EFO_0011011 1.12e-12 1.12 -12 -0.173 -0.238 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 394.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Leg predicted mass left (23118) EFO_0004302 1.88e-13 1.88 -13 0.34 0.268 EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 257.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NF1 Sitting height (20015) EFO_0011011 1.04e-12 1.04 -12 -0.23 -0.317 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 222.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SCUBE3 Sitting height (20015) EFO_0011011 2.04e-12 2.04 -12 -0.307 -0.426 EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 121.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MLH1 ICD10 Z08: Encounter for follow-up examination after completed treatment for malignant neoplasm EFO_0004542 6.81e-16 6.81 -16 11.876 21.654 EUR HANCESTRO_0005 UK Biobank 450k GCST90081200 387917 6079 22.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MLH1 ICD10 Z08: Encounter for follow-up examination after completed treatment for malignant neoplasm EFO_0004542 2.5699999999999997e-24 2.57 -24 47.121 98.975 EUR HANCESTRO_0005 UK Biobank 450k GCST90081200 387917 6079 20.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MLH1 ICD10 Z08: Encounter for follow-up examination after completed treatment for malignant neoplasm EFO_0004542 3e-17 3.0 -17 68.904 183.992 EUR HANCESTRO_0005 UK Biobank 450k GCST90081200 387917 6079 12.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON MSH2 ICD10 Z08: Encounter for follow-up examination after completed treatment for malignant neoplasm EFO_0004542 1.06e-19 1.06 -19 19.168 36.254 EUR HANCESTRO_0005 UK Biobank 450k GCST90081200 387917 6079 22.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PALB2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 4.27e-17 4.27 -17 2.76 3.497 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 101.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 8.08e-13 8.08 -13 10.795 20.705 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 19.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON BRCA2 ICD10 C78.7: Secondary malignant neoplasm of liver and intrahepatic bile duct EFO_0009812 2.13e-11 2.13 -11 3.451 4.96 EUR HANCESTRO_0005 UK Biobank 450k GCST90079624 387930 3748 43.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 1.92e-22 1.92 -22 4.112 5.464 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 79.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 4.19e-44 4.19 -44 9.387 12.864 EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 81.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GATA5 Forced expiratory volume in 1 second FEV1 Z score (20256) EFO_0004314 1.59e-18 1.59 -18 0.135 0.111 EUR HANCESTRO_0005 UK Biobank 450k GCST90078388 343302 343302 5762.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Arm fat free mass left (23125) EFO_0004995 7.98e-18 7.98 -18 -0.356 -0.461 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 115.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GMPR Mean corpuscular volume (30040) EFO_0004526 9.12e-15 9.12 -15 0.313 0.249 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 779.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CAD Mean corpuscular volume (30040) EFO_0004526 1.42e-26 1.42 -26 0.769 0.649 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 210.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON FAM21C Mean corpuscular volume (30040) EFO_0004526 5.85e-13 5.85 -13 0.075 0.059 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 11901.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CCNF Mean corpuscular volume (30040) EFO_0004526 2.81e-12 2.81 -12 0.255 0.199 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 963.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Arm fat free mass left (23125) EFO_0004995 2e-12 2.0 -12 0.413 0.323 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 157.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACAN Arm fat free mass left (23125) EFO_0004995 6.83e-17 6.83 -17 -0.553 -0.723 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 44.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON BRCA1 Mother still alive - Yes (1835) EFO_0007796 1.86e-13 1.86 -13 0.489 0.592 EUR HANCESTRO_0005 UK Biobank 450k GCST90077615 423687 167942 192.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TERT Mean corpuscular volume (30040) EFO_0004526 3.94e-21 3.94 -21 0.634 0.525 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 250.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IRS1 Arm fat free mass left (23125) EFO_0004995 1.24e-19 1.24 -19 -0.347 -0.442 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 140.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADCK3 Mean corpuscular volume (30040) EFO_0004526 4.41e-17 4.41 -17 -0.126 -0.165 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 2036.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON POLE Mean corpuscular volume (30040) EFO_0004526 7.510000000000001e-21 7.51 -21 0.38 0.314 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 689.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CAD Mean corpuscular volume (30040) EFO_0004526 1.42e-26 1.42 -26 0.769 0.649 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 210.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean corpuscular volume (30040) EFO_0004526 8.8e-232 8.8 -232 -2.72 -2.894 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 98.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean corpuscular volume (30040) EFO_0004526 4.71e-17 4.71 -17 -1.715 -2.237 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 ICD10 Y43: Adverse effects in the therapeutic use of primarily systemic agents (Y43) EFO_0000546 6.59e-14 6.59 -14 4.143 6.008 EUR HANCESTRO_0005 UK Biobank 450k GCST90081151 387930 3135 43.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASXL1 Mean corpuscular volume (30040) EFO_0004526 1.4e-13 1.4 -13 -0.14 -0.191 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1167.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TMPRSS6 Mean corpuscular volume (30040) EFO_0004526 2.35e-20 2.35 -20 -0.541 -0.686 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 142.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GMPR Mean corpuscular volume (30040) EFO_0004526 1.61e-15 1.61 -15 0.285 0.228 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 982.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PIEZO1 Arm fat free mass left (23125) EFO_0004995 2.53e-13 2.53 -13 -0.02 -0.028 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 24585.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADCK3 Mean corpuscular volume (30040) EFO_0004526 4.41e-17 4.41 -17 -0.126 -0.165 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 2036.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular volume (30040) EFO_0004526 5.16e-22 5.16 -22 -1.696 -2.128 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 21.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON CHTF18 Mean corpuscular volume (30040) EFO_0004526 6.7e-15 6.7 -15 0.174 0.139 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 2464.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON RTEL1 Mean corpuscular volume (30040) EFO_0004526 5e-18 5.0 -18 0.507 0.414 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 339.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TMPRSS6 Mean corpuscular volume (30040) EFO_0004526 1.96e-38 1.96 -38 -0.513 -0.604 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 361.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON RNF20 Mean corpuscular volume (30040) EFO_0004526 8.3e-13 8.3 -13 -0.299 -0.411 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 235.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TMPRSS6 Mean corpuscular volume (30040) EFO_0004526 4.82e-56 4.82 -56 -0.287 -0.328 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1822.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CLSPN Mean corpuscular volume (30040) EFO_0004526 6.67e-17 6.67 -17 0.525 0.426 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 298.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON RNF20 Mean corpuscular volume (30040) EFO_0004526 8.3e-13 8.3 -13 -0.299 -0.411 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 235.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TMPRSS6 Mean corpuscular volume (30040) EFO_0004526 4.82e-56 4.82 -56 -0.287 -0.328 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1822.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBA2 Mean corpuscular volume (30040) EFO_0004526 6.15e-13 6.15 -13 -0.443 -0.609 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 110.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON E2F4 Mean corpuscular volume (30040) EFO_0004526 4.66e-24 4.66 -24 2.174 1.821 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 24.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Arm fat free mass left (23125) EFO_0004995 1.07e-16 1.07 -16 -0.048 -0.063 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 5843.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBA2 Mean corpuscular volume (30040) EFO_0004526 5.37e-17 5.37 -17 -0.219 -0.286 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1039.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular volume (30040) EFO_0004526 6.05e-108 6.05 -108 -2.018 -2.215 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Arm fat free mass left (23125) EFO_0004995 6.49e-22 6.49 -22 -0.086 -0.108 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 2642.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TFRC Mean corpuscular volume (30040) EFO_0004526 1.17e-26 1.17 -26 -1.457 -1.784 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 28.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON RRM2 Mean corpuscular volume (30040) EFO_0004526 1.92e-11 1.92 -11 0.551 0.426 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 193.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CLSPN Mean corpuscular volume (30040) EFO_0004526 6.67e-17 6.67 -17 0.525 0.426 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 298.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean corpuscular volume (30040) EFO_0004526 1.92e-18 1.92 -18 -1.893 -2.439 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 10.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON ZFAT Arm fat free mass left (23125) EFO_0004995 5.05e-13 5.05 -13 0.551 0.433 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 92.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON IGF1R Arm fat free mass left (23125) EFO_0004995 7.48e-12 7.48 -12 -0.073 -0.102 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 1485.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular volume (30040) EFO_0004526 4.71e-17 4.71 -17 -1.715 -2.237 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADCK3 Mean corpuscular volume (30040) EFO_0004526 3.12e-17 3.12 -17 -0.132 -0.171 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1905.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBQ1 Mean corpuscular volume (30040) EFO_0004526 1.2e-19 1.2 -19 -0.542 -0.692 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 233.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 Mother still alive - Yes (1835) EFO_0007796 1.66e-13 1.66 -13 0.597 0.685 EUR HANCESTRO_0005 UK Biobank 450k GCST90077615 423687 167942 408.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GNB1 Mean corpuscular volume (30040) EFO_0004526 4.42e-12 4.42 -12 -0.252 -0.351 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 304.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean corpuscular volume (30040) EFO_0004526 6.05e-108 6.05 -108 -2.018 -2.215 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SCUBE3 Arm fat free mass left (23125) EFO_0004995 5.27e-14 5.27 -14 -0.092 -0.124 EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 1216.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BORA Mean corpuscular volume (30040) EFO_0004526 4.95e-19 4.95 -19 -0.091 -0.116 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 4560.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CHTF18 Mean corpuscular volume (30040) EFO_0004526 3.3e-12 3.3 -12 0.096 0.075 EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 6785.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 I50.0: Congestive heart failure (I50.0) EFO_0000373 8.83e-17 8.83 -17 2.553 3.183 EUR HANCESTRO_0005 UK Biobank 450k GCST90080020 387930 3182 110.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN ICD10 I50.0: Congestive heart failure (I50.0) EFO_0000373 1.79e-20 1.79 -20 3.095 3.93 EUR HANCESTRO_0005 UK Biobank 450k GCST90080020 387930 3182 99.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN ICD10 I50.0: Congestive heart failure (I50.0) EFO_0000373 8.83e-17 8.83 -17 2.553 3.183 EUR HANCESTRO_0005 UK Biobank 450k GCST90080020 387930 3182 110.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 I34.0: Nonrheumatic mitral (valve) insufficiency EFO_0009557 3.82e-13 3.82 -13 2.61 3.381 EUR HANCESTRO_0005 UK Biobank 450k GCST90079991 387332 2987 79.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Pulse rate (4194) EFO_0004326 6.85e-14 6.85 -14 0.191 0.151 EUR HANCESTRO_0005 UK Biobank 450k GCST90079160 173103 173103 2342.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Pulse rate (4194) EFO_0004326 6.85e-14 6.85 -14 0.191 0.151 EUR HANCESTRO_0005 UK Biobank 450k GCST90079160 173103 173103 2342.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Pulse rate (4194) EFO_0004326 6.85e-14 6.85 -14 0.191 0.151 EUR HANCESTRO_0005 UK Biobank 450k GCST90079160 173103 173103 2342.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR LipidLowering Med (RGC) EFO_0007010 3.93e-108 3.93 -108 3.677 4.127 EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 726.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR LipidLowering Med (RGC) EFO_0007010 2.0300000000000002e-21 2.03 -21 3.832 5.056 EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 128.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR LipidLowering Med (RGC) EFO_0007010 2.0300000000000002e-21 2.03 -21 3.832 5.056 EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 128.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON WNT1 Non cancer illness code self reported - osteoporosis EFO_0003882 1.47e-11 1.47 -11 5.102 8.188 EUR HANCESTRO_0005 UK Biobank 450k GCST90077779 331754 7730 30.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 LipidLowering Med (RGC) EFO_0007010 1.17e-14 1.17 -14 0.484 0.582 EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 129.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON COL1A1 Non cancer illness code self reported - bone disorder EFO_0004260 8.53e-17 8.53 -17 75.426 208.746 EUR HANCESTRO_0005 UK Biobank 450k GCST90077769 331754 988 12.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON COL1A1 Non cancer illness code self reported - bone disorder EFO_0004260 3.08e-18 3.08 -18 120.707 355.029 EUR HANCESTRO_0005 UK Biobank 450k GCST90077769 331754 988 12.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ATR Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.22e-17 1.22 -17 0.159 0.129 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3756.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TNFRSF13B Monocyte count (30130) EFO_0005091 6.87e-73 6.87 -73 -0.171 -0.192 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 7135.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NF1 Monocyte count (30130) EFO_0005091 1.89e-13 1.89 -13 0.569 0.45 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 214.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PCSK9 Apolipoprotein B (30640) EFO_0004615 1.36e-15 1.36 -15 -0.865 -1.147 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 41.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON TMPRSS6 Red blood cell erythrocyte distribution width (30070) EFO_0009188 8.03e-41 8.03 -41 0.746 0.651 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 361.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ATR Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.22e-17 1.22 -17 0.159 0.129 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3756.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANKRD12 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.96e-13 6.96 -13 0.477 0.375 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 312.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON KLF1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 4.72e-111 4.72 -111 1.423 1.309 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 250.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON POLE Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.49e-29 6.49 -29 0.461 0.392 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 689.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASXL1 Monocyte count (30130) EFO_0005091 1e-12 10.0 -13 0.131 0.103 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 3854.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IL17RA Monocyte count (30130) EFO_0005091 1.21e-13 1.21 -13 -0.429 -0.582 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 129.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON APOC3 Apolipoprotein B (30640) EFO_0004615 1.6700000000000001e-22 1.67 -22 -0.154 -0.193 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 2152.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.2699999999999999e-48 1.27 -48 0.534 0.471 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 823.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 3.2200000000000005e-64 3.22 -64 2.067 1.853 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RRBP1 Apolipoprotein B (30640) EFO_0004615 3.96e-18 3.96 -18 -0.632 -0.817 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 94.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON PCSK9 Apolipoprotein B (30640) EFO_0004615 4.45e-34 4.45 -34 -0.68 -0.811 AFR HANCESTRO_0010 UK Biobank 450k 8474 8474 216.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON KLF1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 4.86e-15 4.86 -15 1.487 1.189 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 37.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ASXL1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.63e-78 2.63 -78 0.559 0.506 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1167.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CXCR4 Monocyte count (30130) EFO_0005091 4.2e-15 4.2 -15 0.474 0.379 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 345.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PIEZO1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 7.16e-17 7.16 -17 0.062 0.051 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 24319.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 Apolipoprotein B (30640) EFO_0004615 1.48e-77 1.48 -77 -0.93 -1.039 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 272.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOB Apolipoprotein B (30640) EFO_0004615 2.2300000000000002e-307 2.23 -307 -1.602 -1.685 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 474.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SUPT5H Red blood cell erythrocyte distribution width (30070) EFO_0009188 7.18e-15 7.18 -15 1.671 1.335 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 29.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MPO Monocyte count (30130) EFO_0005091 3.4999999999999997e-25 3.5 -25 -0.09 -0.111 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 7086.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Apolipoprotein B (30640) EFO_0004615 1.16e-65 1.16 -65 0.435 0.39 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 1747.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GMPR Red blood cell erythrocyte distribution width (30070) EFO_0009188 3.38e-31 3.38 -31 -0.146 -0.175 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3789.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANKRD12 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.96e-13 6.96 -13 0.477 0.375 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 312.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TMPRSS6 Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.75e-26 5.75 -26 0.969 0.817 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 142.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ASXL1 Monocyte count (30130) EFO_0005091 2.69e-23 2.69 -23 0.312 0.261 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 1165.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON POLE Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.49e-29 6.49 -29 0.461 0.392 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 689.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON POLE Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.98e-11 1.98 -11 0.466 0.361 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 294.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PTPRH Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.26e-11 1.26 -11 0.13 0.101 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3852.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL3 Apolipoprotein B (30640) EFO_0004615 1.7e-11 1.7 -11 -0.149 -0.21 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 865.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CXCR4 Monocyte count (30130) EFO_0005091 1.46e-17 1.46 -17 0.642 0.522 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 215.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ALB Apolipoprotein B (30640) EFO_0004615 1.03e-13 1.03 -13 0.989 0.783 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 75.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON NPC1L1 Apolipoprotein B (30640) EFO_0004615 4.52e-14 4.52 -14 -0.083 -0.113 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 3764.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PLD1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.09e-27 1.09 -27 0.267 0.226 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1988.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CCR2 Monocyte count (30130) EFO_0005091 5.34e-15 5.34 -15 -0.16 -0.213 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 1084.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EPB41 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.87e-19 1.87 -19 0.754 0.619 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 182.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ORMDL3 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.33e-12 1.33 -12 0.385 0.302 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 471.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HSPA9 Red blood cell erythrocyte distribution width (30070) EFO_0009188 4.22e-17 4.22 -17 1.067 0.865 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 81.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR ICD10 Z95: Presence of cardiac and vascular implants and grafts EFO_0002571 2.34e-12 2.34 -12 2.06 2.522 EUR HANCESTRO_0005 UK Biobank 450k GCST90081425 387795 16113 132.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SRSF2 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.32e-15 1.32 -15 0.681 0.547 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 182.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.07e-15 5.07 -15 2.356 1.884 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 21.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.11e-11 1.11 -11 2.39 1.855 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PTPRH Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.6e-12 5.6 -12 0.134 0.104 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3746.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SF3B1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.23e-19 6.23 -19 0.505 0.413 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 394.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOB Apolipoprotein B (30640) EFO_0004615 7.39e-54 7.39 -54 -0.197 -0.226 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 4112.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TFRC Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.0199999999999995e-25 6.02 -25 1.215 1.021 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 87.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON IL17RA Monocyte count (30130) EFO_0005091 1.76e-17 1.76 -17 -0.454 -0.589 EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 166.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TMPRSS6 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.95e-45 2.95 -45 0.349 0.306 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1822.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APOC3 Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.649999999999999e-54 5.65 -54 0.343 0.304 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 2214.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 3.2200000000000005e-64 3.22 -64 2.067 1.853 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RRBP1 Apolipoprotein B (30640) EFO_0004615 1.05e-27 1.05 -27 -0.551 -0.671 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 220.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON RRBP1 Apolipoprotein B (30640) EFO_0004615 1.7100000000000003e-21 1.71 -21 -0.477 -0.601 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 209.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON RBL1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 7.99e-15 7.99 -15 0.267 0.214 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1122.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON RRBP1 Apolipoprotein B (30640) EFO_0004615 5.67e-12 5.67 -12 -0.189 -0.263 EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 570.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CD36 Red blood cell erythrocyte distribution width (30070) EFO_0009188 3.76e-22 3.76 -22 0.268 0.223 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1621.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SRSF2 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.32e-15 1.32 -15 0.681 0.547 EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 182.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 8.03e-20 8.03 -20 10.366 17.141 EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 30.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 1.58e-15 1.58 -15 5.841 9.015 EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 35.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 7.66e-26 7.66 -26 4.753 6.357 EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 74.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 2.41e-13 2.41 -13 4.878 7.454 EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 35.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FLG Age hay fever rhinitis or eczema diagnosed (3761) EFO_0004847 2.02e-12 2.02 -12 -0.163 -0.226 EUR HANCESTRO_0005 UK Biobank 450k GCST90079072 88602 88602 880.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PFKM Haemoglobin concentration (30020) EFO_0004509 1.44e-16 1.44 -16 0.18 0.146 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1808.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC9A3R2 Haemoglobin concentration (30020) EFO_0004509 1.01e-16 1.01 -16 -0.059 -0.077 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 6540.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Eosinophil count (30150) EFO_0004842 2.8e-57 2.8 -57 -0.307 -0.35 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 1777.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC22A2 Lipoprotein A (30790) EFO_0006925 1.91e-155 1.91 -155 0.84 0.782 EUR HANCESTRO_0005 UK Biobank 450k GCST90079034 329317 329317 1156.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Haemoglobin concentration (30020) EFO_0004509 7.89e-12 7.89 -12 -0.945 -1.325 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON KLF1 Haemoglobin concentration (30020) EFO_0004509 1.39e-14 1.39 -14 -0.23 -0.309 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 348.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SRSF2 Eosinophil count (30150) EFO_0004842 6.59e-13 6.59 -13 -0.357 -0.491 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 182.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APEH Haemoglobin concentration (30020) EFO_0004509 6.19e-15 6.19 -15 -0.14 -0.187 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 975.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Haemoglobin concentration (30020) EFO_0004509 5.62e-65 5.62 -65 -1.298 -1.467 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Eosinophil count (30150) EFO_0004842 2.8e-57 2.8 -57 -0.307 -0.35 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 1777.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Haemoglobin concentration (30020) EFO_0004509 1.27e-133 1.27 -133 -1.712 -1.86 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 98.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TMPRSS6 Haemoglobin concentration (30020) EFO_0004509 2.62e-31 2.62 -31 -0.17 -0.205 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1822.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TMPRSS6 Haemoglobin concentration (30020) EFO_0004509 2.62e-31 2.62 -31 -0.17 -0.205 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1822.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON KLF1 Haemoglobin concentration (30020) EFO_0004509 1.88e-16 1.88 -16 -0.297 -0.389 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 250.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Haemoglobin concentration (30020) EFO_0004509 4.27e-13 4.27 -13 -0.094 -0.129 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1779.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CSF2RB Eosinophil count (30150) EFO_0004842 2.98e-35 2.98 -35 -0.381 -0.452 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 642.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Haemoglobin concentration (30020) EFO_0004509 5.62e-65 5.62 -65 -1.298 -1.467 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Haemoglobin concentration (30020) EFO_0004509 5.33e-13 5.33 -13 -0.101 -0.138 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1532.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON OR51V1 Haemoglobin concentration (30020) EFO_0004509 1.69e-11 1.69 -11 -0.46 -0.649 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 83.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Eosinophil count (30150) EFO_0004842 1.78e-26 1.78 -26 -0.301 -0.369 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 710.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON HBB Haemoglobin concentration (30020) EFO_0004509 1.4e-13 1.4 -13 -1.285 -1.748 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 10.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON IL17RA Eosinophil count (30150) EFO_0004842 1.65e-19 1.65 -19 -0.084 -0.107 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 6105.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LPA Lipoprotein A (30790) EFO_0006925 1.3e-73 1.3 -73 -0.36 -0.404 EUR HANCESTRO_0005 UK Biobank 450k GCST90079034 329317 329317 2027.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC22A2 Lipoprotein A (30790) EFO_0006925 1.3099999999999999e-61 1.31 -61 0.375 0.336 EUR HANCESTRO_0005 UK Biobank 450k GCST90079034 329317 329317 2451.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Haemoglobin concentration (30020) EFO_0004509 1.27e-133 1.27 -133 -1.712 -1.86 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 98.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACO1 Haemoglobin concentration (30020) EFO_0004509 8.49e-22 8.49 -22 0.121 0.1 EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 5181.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Eosinophil count (30150) EFO_0004842 2.8e-57 2.8 -57 -0.307 -0.35 EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 1777.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON JAK2 Platelet crit (30090) EFO_0007985 2.6499999999999997e-42 2.65 -42 0.528 0.461 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 675.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LY75-CD302 Platelet crit (30090) EFO_0007985 1.37e-28 1.37 -28 0.194 0.165 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 3586.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CD36 Platelet crit (30090) EFO_0007985 6.26e-12 6.26 -12 -0.072 -0.101 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 3610.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON THPO Platelet crit (30090) EFO_0007985 9.01e-39 9.01 -39 -0.994 -1.17 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 95.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SRSF2 Platelet crit (30090) EFO_0007985 3.69e-13 3.69 -13 -0.344 -0.471 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 182.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MPL Platelet crit (30090) EFO_0007985 2.89e-25 2.89 -25 0.472 0.397 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 527.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GP1BB Platelet crit (30090) EFO_0007985 1.46e-15 1.46 -15 -0.728 -0.965 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 52.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TUBB1 Platelet crit (30090) EFO_0007985 3.9299999999999995e-52 3.93 -52 -0.132 -0.151 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 7839.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GP1BB Platelet crit (30090) EFO_0007985 1.46e-15 1.46 -15 -0.728 -0.965 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 52.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MPL Platelet crit (30090) EFO_0007985 5.35e-18 5.35 -18 0.495 0.403 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 355.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON JAK2 Platelet crit (30090) EFO_0007985 4.48e-162 4.48 -162 0.548 0.511 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 2164.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SH2B3 Platelet crit (30090) EFO_0007985 1.3e-13 1.3 -13 0.41 0.324 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 400.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LY75 Platelet crit (30090) EFO_0007985 2.3800000000000002e-32 2.38 -32 0.213 0.183 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 3335.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON THPO Platelet crit (30090) EFO_0007985 2.33e-12 2.33 -12 -0.182 -0.253 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 589.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BAK1 Platelet crit (30090) EFO_0007985 4.11e-15 4.11 -15 0.493 0.395 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 304.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CD36 Platelet crit (30090) EFO_0007985 6.26e-12 6.26 -12 -0.072 -0.101 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 3610.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CALR Platelet crit (30090) EFO_0007985 4.72e-75 4.72 -75 2.105 1.902 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 71.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GP1BB Platelet crit (30090) EFO_0007985 1.46e-15 1.46 -15 -0.728 -0.965 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 52.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON FLG Atopy CC (RGC) EFO_0002686 6.21e-16 6.21 -16 1.244 1.312 EUR HANCESTRO_0005 UK Biobank 450k GCST90081463 359926 46691 1790.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ITGB3 Platelet crit (30090) EFO_0007985 1.32e-13 1.32 -13 -0.096 -0.131 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 2455.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SH2B3 Platelet crit (30090) EFO_0007985 8.34e-83 8.34 -83 0.412 0.374 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 2047.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TNFRSF13B Platelet crit (30090) EFO_0007985 1.4e-81 1.4 -81 -0.178 -0.199 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 7147.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TUBB1 Platelet crit (30090) EFO_0007985 1.3399999999999999e-45 1.34 -45 -0.545 -0.633 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 382.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MFSD2B Platelet crit (30090) EFO_0007985 8.32e-30 8.32 -30 -0.114 -0.138 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 5851.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GP1BA Platelet crit (30090) EFO_0007985 8.39e-12 8.39 -12 -0.321 -0.45 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 176.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON JAK2 Platelet crit (30090) EFO_0007985 4.33e-13 4.33 -13 0.569 0.448 EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 202.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON PKD1 ICD10 I12.0: Hypertensive chronic kidney disease with stage 5 chronic kidney disease or end stage renal disease MONDO_0024633 4.37e-24 4.37 -24 17.925 31.344 EUR HANCESTRO_0005 UK Biobank 450k GCST90079963 387930 1504 27.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON LRP5 Speed of sound through heel left (4103) EFO_0005654 1.82e-11 1.82 -11 -0.731 -1.032 EUR HANCESTRO_0005 UK Biobank 450k GCST90079150 166283 166283 34.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON WNT1 Speed of sound through heel left (4103) EFO_0005654 1.39e-12 1.39 -12 -0.355 -0.49 EUR HANCESTRO_0005 UK Biobank 450k GCST90079150 166283 166283 167.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR ICD10 I25: Chronic ischemic heart disease EFO_0003777 9.14e-13 9.14 -13 3.379 4.719 EUR HANCESTRO_0005 UK Biobank 450k GCST90079982 387110 32706 61.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Trunk fat mass (23128) EFO_0005409 3.32e-14 3.32 -14 0.11 0.087 EUR HANCESTRO_0005 UK Biobank 450k GCST90078931 423433 423433 6708.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 K91.4: Colostomy and enterostomy malfunction (K91.4) EFO_0000405 5.54e-12 5.54 -12 72.337 244.463 EUR HANCESTRO_0005 UK Biobank 450k GCST90080316 387930 635 7.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON PROS1 VTE Composite CC (RGC) EFO_0004286 5.94e-14 5.94 -14 11.511 21.78 EUR HANCESTRO_0005 UK Biobank 450k GCST90081534 225913 5702 23.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON HNF1A Non cancer illness code self reported - diabetes EFO_0000400 5.58e-13 5.58 -13 7.814 13.664 EUR HANCESTRO_0005 UK Biobank 450k GCST90077722 331754 17927 25.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PROS1 VTE Composite CC (RGC) EFO_0004286 2.67e-15 2.67 -15 6.429 10.197 EUR HANCESTRO_0005 UK Biobank 450k GCST90081534 225913 5702 39.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PROS1 VTE Composite CC (RGC) EFO_0003907 4.56e-12 4.56 -12 22.872 55.508 EUR HANCESTRO_0005 UK Biobank 450k GCST90081534 225913 5702 13.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON HNF1A ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 1.58e-11 1.58 -11 5.739 9.539 EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 29.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GCK ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 1.6400000000000001e-31 1.64 -31 10.009 14.733 EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 61.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON HNF1A ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 1.58e-11 1.58 -11 5.739 9.539 EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 29.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADAMTS17 Comparative height size at age 10 - Shorter (1697) EFO_0004339 6.17e-18 6.17 -18 1.519 1.67 EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 679.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Comparative height size at age 10 - Shorter (1697) EFO_0004339 9.26e-20 9.26 -20 0.739 0.789 EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 1093.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NPR2 Comparative height size at age 10 - Shorter (1697) EFO_0004339 9.620000000000001e-21 9.62 -21 1.973 2.275 EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 332.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Comparative height size at age 10 - Shorter (1697) EFO_0004339 4.48e-14 4.48 -14 4.568 6.777 EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 59.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NPR2 Comparative height size at age 10 - Shorter (1697) EFO_0004339 3.15e-13 3.15 -13 2.324 2.916 EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 141.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON HBB Reticulocyte count (30250) EFO_0007986 7.53e-13 7.53 -13 0.872 0.685 SAS HANCESTRO_0006 UK Biobank 450k 9692 9692 99.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Reticulocyte count (30250) EFO_0007986 1.25e-18 1.25 -18 0.239 0.196 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1754.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GMPR Reticulocyte count (30250) EFO_0007986 2.75e-30 2.75 -30 0.313 0.267 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1583.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PDE3B Reticulocyte count (30250) EFO_0007986 2.48e-16 2.48 -16 -0.129 -0.17 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 2012.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON EPB41 Reticulocyte count (30250) EFO_0007986 4.3e-20 4.3 -20 0.778 0.641 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 179.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SPTA1 Reticulocyte count (30250) EFO_0007986 5.49e-50 5.49 -50 0.823 0.727 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 365.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CYB561D2 Reticulocyte count (30250) EFO_0007986 9.58e-12 9.58 -12 0.131 0.101 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 3894.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CA1 Reticulocyte count (30250) EFO_0007986 5.46e-13 5.46 -13 0.354 0.278 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 582.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SH2B3 Reticulocyte count (30250) EFO_0007986 3.18e-27 3.18 -27 0.197 0.166 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 3655.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANK1 Reticulocyte count (30250) EFO_0007986 5.81e-14 5.81 -14 0.292 0.231 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 915.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SPTA1 Reticulocyte count (30250) EFO_0007986 5.49e-50 5.49 -50 0.823 0.727 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 365.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PIEZO1 Reticulocyte count (30250) EFO_0007986 1.66e-16 1.66 -16 0.063 0.051 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 23943.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC4A1 Reticulocyte count (30250) EFO_0007986 5.81e-25 5.81 -25 1.269 1.066 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 81.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Reticulocyte count (30250) EFO_0007986 1.25e-18 1.25 -18 0.239 0.196 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1754.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON EPB41 Reticulocyte count (30250) EFO_0007986 4.3e-20 4.3 -20 0.778 0.641 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 179.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IFRD2 Reticulocyte count (30250) EFO_0007986 3.9400000000000003e-72 3.94 -72 0.217 0.195 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 7385.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Reticulocyte count (30250) EFO_0007986 5.870000000000001e-26 5.87 -26 1.186 1.0 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 96.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANK1 Reticulocyte count (30250) EFO_0007986 1.92e-11 1.92 -11 0.527 0.408 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 234.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON SPTB Reticulocyte count (30250) EFO_0007986 1.19e-15 1.19 -15 1.047 0.841 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 78.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC4A1 Reticulocyte count (30250) EFO_0007986 1.45e-20 1.45 -20 0.553 0.457 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 359.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON IFRD2 Reticulocyte count (30250) EFO_0007986 2.66e-28 2.66 -28 0.353 0.3 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1171.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANK1 Reticulocyte count (30250) EFO_0007986 3.55e-16 3.55 -16 1.058 0.853 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 79.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ANK1 Reticulocyte count (30250) EFO_0007986 1.39e-11 1.39 -11 0.731 0.567 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 123.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKLR Reticulocyte count (30250) EFO_0007986 7.83e-16 7.83 -16 0.309 0.249 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 916.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IQGAP2 Reticulocyte count (30250) EFO_0007986 2.15e-12 2.15 -12 0.224 0.175 EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1402.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MYOC Non cancer illness code self reported - glaucoma EFO_0000516 3.09e-19 3.09 -19 4.007 5.428 EUR HANCESTRO_0005 UK Biobank 450k GCST90077754 331754 5059 66.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 C80: Malignant neoplasm without specification of site EFO_0000616 4.21e-17 4.21 -17 5.313 7.842 EUR HANCESTRO_0005 UK Biobank 450k GCST90079632 387252 2342 42.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PALB2 ICD10 C77.3: Secondary and unspecified malignant neoplasm of axilla and upper limb lymph nodes MONDO_0024339 1.15e-12 1.15 -12 6.013 9.859 EUR HANCESTRO_0005 UK Biobank 450k GCST90079618 387930 2725 27.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Arm fat percentage right (23119) EFO_0007800 7.4e-12 7.4 -12 0.446 0.347 EUR HANCESTRO_0005 UK Biobank 450k GCST90078922 423608 423608 197.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CXCL6 Neutrophil percentage (30200) EFO_0007990 6.3e-17 6.3 -17 -0.077 -0.101 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 6166.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MIP ICD10 H26.9: Unspecified cataract MONDO_0005129 5.410000000000001e-27 5.41 -27 7.182 10.285 EUR HANCESTRO_0005 UK Biobank 450k GCST90079892 387427 17761 60.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANKRD12 Neutrophil percentage (30200) EFO_0007990 2.79e-16 2.79 -16 0.543 0.438 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 312.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MIP ICD10 H26.9: Unspecified cataract MONDO_0005129 1.95e-17 1.95 -17 13.76 25.192 EUR HANCESTRO_0005 UK Biobank 450k GCST90079892 387427 17761 25.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MPO Neutrophil percentage (30200) EFO_0007990 2.86e-19 2.86 -19 0.093 0.076 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 12702.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MPO Neutrophil percentage (30200) EFO_0007990 1.19e-11 1.19 -11 0.099 0.077 EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 7086.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MIP ICD10 H26.9: Unspecified cataract MONDO_0005129 1.62e-23 1.62 -23 11.651 18.857 EUR HANCESTRO_0005 UK Biobank 450k GCST90079892 387427 17761 38.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LDLR ICD10 I25.9: Chronic ischemic heart disease, unspecified EFO_0003777 1.14e-13 1.14 -13 2.106 2.563 EUR HANCESTRO_0005 UK Biobank 450k GCST90079981 386241 17106 141.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR ICD10 I25.9: Chronic ischemic heart disease, unspecified EFO_0003777 1.2e-12 1.2 -12 3.739 5.379 EUR HANCESTRO_0005 UK Biobank 450k GCST90079981 386241 17106 49.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MIP ICD10 H26.9: Unspecified cataract MONDO_0005129 1.95e-17 1.95 -17 13.76 25.192 EUR HANCESTRO_0005 UK Biobank 450k GCST90079892 387427 17761 25.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR ICD10 I25.9: Chronic ischemic heart disease, unspecified EFO_0003777 5.8e-13 5.8 -13 2.208 2.739 EUR HANCESTRO_0005 UK Biobank 450k GCST90079981 386241 17106 119.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NF1 Neutrophil count (30140) EFO_0004833 1.16e-12 1.16 -12 0.483 0.378 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 314.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CXCL2 Neutrophil count (30140) EFO_0004833 3.29e-17 3.29 -17 -0.543 -0.707 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 126.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON S1PR4 Neutrophil count (30140) EFO_0004833 2.4e-13 2.4 -13 -0.2 -0.273 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 636.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC9A3R1 Neutrophil count (30140) EFO_0004833 1.99e-14 1.99 -14 0.102 0.081 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 7948.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 ICD10 N18: Chronic kidney disease (CKD) EFO_0003884 3.9900000000000004e-47 3.99 -47 30.814 49.106 EUR HANCESTRO_0005 UK Biobank 450k GCST90080584 382843 10144 49.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON CXCL2 Neutrophil count (30140) EFO_0004833 1.13e-18 1.13 -18 -0.639 -0.822 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 102.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD1 ICD10 N18: Chronic kidney disease (CKD) EFO_0003884 9.920000000000001e-43 9.92 -43 13.222 19.129 EUR HANCESTRO_0005 UK Biobank 450k GCST90080584 382843 10144 63.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Neutrophil count (30140) EFO_0004833 8.74e-19 8.74 -19 -0.154 -0.198 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 1777.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MPO Neutrophil count (30140) EFO_0004833 1.11e-26 1.11 -26 0.107 0.091 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 12701.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Neutrophil count (30140) EFO_0004833 8.74e-19 8.74 -19 -0.154 -0.198 EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 1777.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SF3B1 Type of Cancer: Lymphoid leukemia (40006) EFO_0004289 7.84e-13 7.84 -13 15.308 32.292 EUR HANCESTRO_0005 UK Biobank 450k GCST90079125 74230 699 15.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MYD88 Type of Cancer: Lymphoid leukemia (40006) EFO_0004289 3.95e-15 3.95 -15 42.402 107.986 EUR HANCESTRO_0005 UK Biobank 450k GCST90079125 74230 699 12.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON JAK2 ICD10 D75: Other and unspecified diseases of blood and blood-forming organs EFO_0005803 3.29e-64 3.29 -64 15.201 20.835 EUR HANCESTRO_0005 UK Biobank 450k GCST90079719 387036 993 79.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SF3B1 Type of Cancer: Lymphoid leukemia (40006) EFO_0004289 7.84e-13 7.84 -13 15.308 32.292 EUR HANCESTRO_0005 UK Biobank 450k GCST90079125 74230 699 15.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Comparative body size at age 10 - Plumper (1687) EFO_0009819 2.88e-50 2.88 -50 2.704 3.082 EUR HANCESTRO_0005 UK Biobank 450k GCST90077589 423612 68629 403.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HOXB13 Self Report - prostate cancer (20001) EFO_0001663 8.41e-14 8.41 -14 4.292 6.293 EUR HANCESTRO_0005 UK Biobank 450k GCST90077635 39614 3622 71.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADCY3 Comparative body size at age 10 - Plumper (1687) EFO_0009819 4.79e-13 4.79 -13 1.997 2.409 EUR HANCESTRO_0005 UK Biobank 450k GCST90077589 423612 68629 176.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Treatment or Medication Code - digoxin EFO_0007010 2.05e-12 2.05 -12 3.676 5.285 EUR HANCESTRO_0005 UK Biobank 450k GCST90078240 320758 1185 44.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Comparative body size at age 10 - Plumper (1687) EFO_0009819 2.88e-50 2.88 -50 2.704 3.082 EUR HANCESTRO_0005 UK Biobank 450k GCST90077589 423612 68629 403.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADCY3 Comparative body size at age 10 - Plumper (1687) EFO_0009819 1.09e-11 1.09 -11 1.611 1.849 EUR HANCESTRO_0005 UK Biobank 450k GCST90077589 423612 68629 301.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Comparative body size at age 10 - Plumper (1687) EFO_0009819 1.44e-14 1.44 -14 3.68 5.128 EUR HANCESTRO_0005 UK Biobank 450k GCST90077589 423612 68629 69.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Treatment or Medication Code - digoxin EFO_0007010 8.93e-16 8.93 -16 5.387 8.122 EUR HANCESTRO_0005 UK Biobank 450k GCST90078240 320758 1185 38.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON OCA2 logMAR final left (5208) EFO_0008385 2.67e-12 2.67 -12 0.167 0.131 EUR HANCESTRO_0005 UK Biobank 450k GCST90079332 109433 109433 2715.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 6mm weak meridian right (5098) EFO_0004731 3.3e-16 3.3 -16 0.928 0.749 EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 95.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 6mm weak meridian right (5098) EFO_0004731 1.17e-19 1.17 -19 0.537 0.442 EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 338.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 6mm weak meridian right (5098) EFO_0004731 1.17e-16 1.17 -16 0.488 0.394 EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 354.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MFRP SphericalEquivalent r started wearing glasses contacts before 40 (RGC) EFO_0004731 8.47e-16 8.47 -16 0.568 0.457 EUR HANCESTRO_0005 UK Biobank 450k GCST90081513 48976 48976 273.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 6mm weak meridian right (5098) EFO_0004731 1.17e-16 1.17 -16 0.488 0.394 EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 354.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 6mm weak meridian right (5098) EFO_0004731 1.8e-11 1.8 -11 0.884 0.685 EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 77.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PRSS56 6mm weak meridian right (5098) EFO_0004731 6.11e-12 6.11 -12 0.624 0.485 EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 162.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GCK T2D (RGC) MONDO_0005148 1.57e-41 1.57 -41 5.751 7.414 EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 121.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GIGYF1 T2D (RGC) MONDO_0005148 4.58e-13 4.58 -13 4.769 7.28 EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 42.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GCK T2D (RGC) MONDO_0005148 1.57e-41 1.57 -41 5.751 7.414 EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 121.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GCK Non cancer illness code self reported - type 2 diabetes MONDO_0005148 6.57e-14 6.57 -14 7.953 13.676 EUR HANCESTRO_0005 UK Biobank 450k GCST90077724 331754 3497 24.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 ICD10 N28: Other disorders of kidney and ureter, not elsewhere classified EFO_0009690 1.48e-12 1.48 -12 8.7 15.839 EUR HANCESTRO_0005 UK Biobank 450k GCST90080595 387002 3413 20.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK T2D (RGC) MONDO_0005148 5.92e-50 5.92 -50 8.047 10.595 EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 114.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PDE3B Comparative height size at age 10 - Taller (1697) EFO_0004339 6.75e-13 6.75 -13 1.596 1.814 EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 429.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PDE3B Comparative height size at age 10 - Taller (1697) EFO_0004339 5.57e-15 5.57 -15 1.478 1.631 EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 702.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS17 Comparative height size at age 10 - Taller (1697) EFO_0004339 7.85e-22 7.85 -22 0.681 0.736 EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 784.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GCK Non cancer illness code self reported - type 2 diabetes/ICD10 E11 MONDO_0005148 8.91e-14 8.91 -14 8.305 14.488 EUR HANCESTRO_0005 UK Biobank 450k GCST90077725 329052 3203 23.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PDE3B Comparative height size at age 10 - Taller (1697) EFO_0004339 6.75e-13 6.75 -13 1.596 1.814 EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 429.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON FLG Non cancer illness code self reported - eczema dermatitis EFO_0005319 1.56e-41 1.56 -41 1.785 1.942 EUR HANCESTRO_0005 UK Biobank 450k GCST90077853 331754 12790 710.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IL33 ICD10 J45.9: Other and unspecified asthma MONDO_0004979 1.14e-11 1.14 -11 0.689 0.767 EUR HANCESTRO_0005 UK Biobank 450k GCST90080140 385754 38114 328.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IL33 ICD10 J45.9: Other and unspecified asthma MONDO_0004979 9.93e-12 9.93 -12 0.689 0.767 EUR HANCESTRO_0005 UK Biobank 450k GCST90080140 385754 38114 329.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON OCA2 Age started wearing glasses or contact lenses (2217) EFO_0004847 1.23e-25 1.23 -25 -0.086 -0.105 EUR HANCESTRO_0005 UK Biobank 450k GCST90078869 374837 374837 9443.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 3.15e-127 3.15 -127 -2.044 -2.226 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 96.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON E2F4 Mean sphered cell volume (30270) EFO_0004526 1.64e-15 1.64 -15 1.838 1.475 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 24.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TYRP1 Hair colour natural before greying - Black (1747) EFO_0007822 1.31e-16 1.31 -16 0.317 0.416 EUR HANCESTRO_0005 UK Biobank 450k GCST90077610 429979 20623 38.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BTG2 Mean sphered cell volume (30270) EFO_0004526 1.8e-11 1.8 -11 0.406 0.315 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 383.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CAD Mean sphered cell volume (30270) EFO_0004526 1.48e-45 1.48 -45 1.016 0.893 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 208.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON KLF1 Mean sphered cell volume (30270) EFO_0004526 5.86e-31 5.86 -31 -0.557 -0.671 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 246.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 1.92e-17 1.92 -17 -1.562 -2.03 SAS HANCESTRO_0006 UK Biobank 450k 9690 9690 19.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON KLF1 Mean sphered cell volume (30270) EFO_0004526 5.86e-31 5.86 -31 -0.557 -0.671 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 246.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON POLE Mean sphered cell volume (30270) EFO_0004526 3.5599999999999996e-23 3.56 -23 0.151 0.126 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 5127.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON OR6K2 Mean sphered cell volume (30270) EFO_0004526 1.49e-13 1.49 -13 0.132 0.105 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 4192.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON RHAG Mean sphered cell volume (30270) EFO_0004526 4.5400000000000004e-29 4.54 -29 -0.232 -0.281 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 1330.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON OR51V1 Mean sphered cell volume (30270) EFO_0004526 3.24e-19 3.24 -19 -0.829 -1.061 SAS HANCESTRO_0006 UK Biobank 450k 9690 9690 79.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 6.48e-86 6.48 -86 -1.865 -2.071 SAS HANCESTRO_0006 UK Biobank 450k 9690 9690 99.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 2.01e-16 2.01 -16 -1.891 -2.482 AFR HANCESTRO_0010 UK Biobank 450k 8409 8409 13.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 1.25e-11 1.25 -11 -1.231 -1.732 EAS HANCESTRO_0009 UK Biobank 450k 2106 2106 16.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON RHAG Mean sphered cell volume (30270) EFO_0004526 1.29e-43 1.29 -43 -0.765 -0.891 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 203.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ATR Mean sphered cell volume (30270) EFO_0004526 1.27e-19 1.27 -19 -0.106 -0.136 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 3704.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TFRC Mean sphered cell volume (30270) EFO_0004526 1.11e-15 1.11 -15 -0.6 -0.794 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 84.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CHTF18 Mean sphered cell volume (30270) EFO_0004526 5.36e-12 5.36 -12 0.163 0.127 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 2428.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SPTA1 Mean sphered cell volume (30270) EFO_0004526 1.18e-28 1.18 -28 -0.484 -0.588 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 299.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SPTB Mean sphered cell volume (30270) EFO_0004526 5.02e-12 5.02 -12 -0.068 -0.095 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 4411.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CLSPN Mean sphered cell volume (30270) EFO_0004526 8.87e-12 8.87 -12 0.466 0.362 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 295.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CCNF Mean sphered cell volume (30270) EFO_0004526 9.74e-13 9.74 -13 0.282 0.221 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 859.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON RTEL1 Mean sphered cell volume (30270) EFO_0004526 8.93e-15 8.93 -15 0.481 0.384 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 336.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SF3B1 Mean sphered cell volume (30270) EFO_0004526 1.44e-12 1.44 -12 0.416 0.326 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 390.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANK1 Mean sphered cell volume (30270) EFO_0004526 8.51e-15 8.51 -15 -0.477 -0.638 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 123.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean sphered cell volume (30270) EFO_0004526 3.15e-127 3.15 -127 -2.044 -2.226 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 96.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CAD Mean sphered cell volume (30270) EFO_0004526 1.48e-45 1.48 -45 1.016 0.893 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 208.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPTB Mean sphered cell volume (30270) EFO_0004526 1.57e-19 1.57 -19 -0.565 -0.722 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 129.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANK1 Mean sphered cell volume (30270) EFO_0004526 5.97e-21 5.97 -21 -0.443 -0.56 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 234.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON RHAG Mean sphered cell volume (30270) EFO_0004526 1.19e-21 1.19 -21 -0.413 -0.52 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 284.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SPTB Mean sphered cell volume (30270) EFO_0004526 4.84e-25 4.84 -25 -1.12 -1.382 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 46.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON SPTB Mean sphered cell volume (30270) EFO_0004526 8.23e-12 8.23 -12 -0.257 -0.361 EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 295.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON OCA2 Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 4.27e-120 4.27 -120 0.614 0.639 EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 3264.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACSF3 Hair colour natural before greying - Red (1747) EFO_0007822 1.33e-73 1.33 -73 2.12 2.3 EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 808.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON OCA2 Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 1.83e-47 1.83 -47 0.582 0.626 EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 980.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON OCA2 Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 5.06e-14 5.06 -14 0.358 0.468 EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 57.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SPATA33 Hair colour natural before greying - Red (1747) EFO_0007822 5.88e-41 5.88 -41 0.221 0.275 EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 44.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC1R Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 4.6099999999999996e-95 4.61 -95 0.554 0.586 EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 1621.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON FANCA Hair colour natural before greying - Red (1747) EFO_0007822 1.88e-15 1.88 -15 0.374 0.476 EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 47.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TYR Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 2.08e-12 2.08 -12 0.838 0.881 EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 2583.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SF3B1 Type of Cancer: Chronic lymphocytic leukemia of B-cell type (40006) EFO_0000095 7.96e-14 7.96 -14 18.087 38.657 EUR HANCESTRO_0005 UK Biobank 450k GCST90079124 74230 571 15.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SF3B1 Type of Cancer: Chronic lymphocytic leukemia of B-cell type (40006) EFO_0000095 7.96e-14 7.96 -14 18.087 38.657 EUR HANCESTRO_0005 UK Biobank 450k GCST90079124 74230 571 15.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN ICD10 I48: Atrial fibrillation and flutter EFO_0000275 3.95e-25 3.95 -25 1.771 1.974 EUR HANCESTRO_0005 UK Biobank 450k GCST90080015 386856 20107 452.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NF1 Lymphocyte percentage (30180) EFO_0007993 5.01e-14 5.01 -14 -0.293 -0.396 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 314.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC1R Ease of skin tanning - Get mildly or occasionally tanned (1727) EFO_0007009 5.98e-25 5.98 -25 1.373 1.458 EUR HANCESTRO_0005 UK Biobank 450k GCST90077604 422570 93163 1599.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RASA3 Lymphocyte percentage (30180) EFO_0007993 8.21e-16 8.21 -16 -0.136 -0.179 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 1744.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TYK2 Lymphocyte percentage (30180) EFO_0007993 1.52e-18 1.52 -18 0.113 0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 7855.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CXCL2 Lymphocyte percentage (30180) EFO_0007993 6.76e-13 6.76 -13 0.843 0.662 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 102.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC45A2 Ease of skin tanning - Get mildly or occasionally tanned (1727) EFO_0007009 4.3899999999999995e-25 4.39 -25 1.533 1.663 EUR HANCESTRO_0005 UK Biobank 450k GCST90077604 422570 93163 938.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NF1 Lymphocyte percentage (30180) EFO_0007993 1.35e-11 1.35 -11 -0.133 -0.187 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 1141.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ANKRD12 Lymphocyte percentage (30180) EFO_0007993 3.81e-16 3.81 -16 -0.325 -0.428 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 312.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GNB1 Lymphocyte percentage (30180) EFO_0007993 9.77e-14 9.77 -14 -0.293 -0.398 EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 304.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TFRC Mean corpuscular haemoglobin concentration (30060) EFO_0004528 4.67e-16 4.67 -16 -0.634 -0.835 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 87.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.43e-128 2.43 -128 -2.149 -2.339 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 98.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC4A1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.35e-17 2.35 -17 0.295 0.24 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 1156.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBQ1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 1.74e-18 1.74 -18 -0.466 -0.6 AFR HANCESTRO_0010 UK Biobank 450k 8639 8639 233.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TMPRSS6 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 1.58e-13 1.58 -13 -0.274 -0.373 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 361.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC4A1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.1600000000000003e-21 3.16 -21 0.249 0.206 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 1949.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.11e-81 3.11 -81 -1.797 -2.003 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 103.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TMPRSS6 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 1.58e-13 1.58 -13 -0.274 -0.373 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 361.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TFRC Mean corpuscular haemoglobin concentration (30060) EFO_0004528 4.67e-16 4.67 -16 -0.634 -0.835 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 87.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON RHAG Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.51e-17 3.51 -17 0.271 0.22 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 1351.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TFRC Mean corpuscular haemoglobin concentration (30060) EFO_0004528 6.27e-14 6.27 -14 -0.61 -0.826 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 76.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON KLF1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 1.62e-13 1.62 -13 -0.279 -0.38 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 348.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SPTA1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.74e-16 2.74 -16 0.505 0.407 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 373.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 5.88e-12 5.88 -12 -1.281 -1.791 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TFRC Mean corpuscular haemoglobin concentration (30060) EFO_0004528 4.67e-16 4.67 -16 -0.634 -0.835 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 87.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APC ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 3.62e-14 3.62 -14 7.643 12.936 EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 28.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 5.02e-13 5.02 -13 2.087 2.547 EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 133.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SPTA1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.74e-16 2.74 -16 0.505 0.407 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 373.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON KLF1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 1.62e-13 1.62 -13 -0.279 -0.38 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 348.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 5.02e-13 5.02 -13 2.087 2.547 EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 133.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPTA1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 4.72e-13 4.72 -13 0.507 0.399 EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 304.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON APC ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 3.62e-14 3.62 -14 7.643 12.936 EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 28.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON FBN2 Impedance of arm left (23110) HP_0000924 1.24e-11 1.24 -11 0.578 0.448 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 99.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON ADAMTS17 Impedance of arm left (23110) HP_0000924 1.65e-11 1.65 -11 -0.158 -0.223 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 394.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADAMTS3 Impedance of arm left (23110) HP_0000924 1.41e-12 1.41 -12 -0.136 -0.188 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 614.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON COL8A2 Impedance of arm left (23110) HP_0000924 2.57e-12 2.57 -12 0.207 0.162 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 811.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANTXR1 Impedance of arm left (23110) HP_0000924 2.01e-17 2.01 -17 -0.114 -0.148 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 1439.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON EML4 Impedance of arm left (23110) HP_0000924 5.47e-17 5.47 -17 -0.088 -0.114 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 2348.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS3 Impedance of arm left (23110) HP_0000924 1.3e-14 1.3 -14 -0.081 -0.109 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 2184.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Impedance of arm left (23110) HP_0000924 1.2800000000000001e-21 1.28 -21 0.1 0.083 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 5849.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON OBSCN Impedance of arm left (23110) HP_0000924 6.82e-13 6.82 -13 -0.017 -0.024 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 44590.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EML4 Impedance of arm left (23110) HP_0000924 1.15e-14 1.15 -14 -0.103 -0.138 EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 1376.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ASXL1 Age stopped smoking (2897) EFO_0004319 4.25e-13 4.25 -13 0.479 0.377 EUR HANCESTRO_0005 UK Biobank 450k GCST90078969 108447 108447 336.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APC ICD10 Z87.1: Personal history of diseases of the digestive system EFO_0000405 6.57e-15 6.57 -15 7.754 12.979 EUR HANCESTRO_0005 UK Biobank 450k GCST90081368 386566 20497 29.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 Z87.1: Personal history of diseases of the digestive system EFO_0000405 6.57e-15 6.57 -15 7.754 12.979 EUR HANCESTRO_0005 UK Biobank 450k GCST90081368 386566 20497 29.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APC ICD10 Z87.1: Personal history of diseases of the digestive system EFO_0000405 6.57e-15 6.57 -15 7.754 12.979 EUR HANCESTRO_0005 UK Biobank 450k GCST90081368 386566 20497 29.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 4.34e-47 4.34 -47 5.292 6.637 EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 135.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 1.77e-13 1.77 -13 4.592 6.889 EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 40.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 2.5100000000000004e-27 2.51 -27 2.785 3.352 EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 167.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 8.05e-41 8.05 -41 5.343 6.83 EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 115.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PALB2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 1.01e-20 1.01 -20 4.663 6.443 EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 63.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CHEK2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 2.78e-14 2.78 -14 2.252 2.775 EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 122.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ATM ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 1.13e-12 1.13 -12 2.849 3.802 EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 69.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 1.17e-19 1.17 -19 3.423 4.465 EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 86.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 2.1200000000000002e-29 2.12 -29 6.775 9.454 EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 67.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 1.17e-19 1.17 -19 3.423 4.465 EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 86.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ALPL Phosphate (30810) EFO_0010968 5.7e-149 5.7 -149 0.626 0.582 EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 1750.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC34A3 Phosphate (30810) EFO_0010968 4.52e-14 4.52 -14 -0.154 -0.208 EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 1156.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ALPL Phosphate (30810) EFO_0010968 4.13e-184 4.13 -184 0.933 0.874 EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 964.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC34A3 Phosphate (30810) EFO_0010968 1.31e-25 1.31 -25 -0.273 -0.336 EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 850.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ENPP1 Phosphate (30810) EFO_0010968 1.8e-26 1.8 -26 -0.186 -0.228 EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 1925.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SH2B3 Phosphate (30810) EFO_0010968 1.75e-13 1.75 -13 0.152 0.12 EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 3336.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ALPL Phosphate (30810) EFO_0010968 5.51e-46 5.51 -46 0.978 0.859 EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 241.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ENPP1 Phosphate (30810) EFO_0010968 7.26e-14 7.26 -14 -0.316 -0.429 EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 268.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON THBS3 Impedance of arm right (23109) HP_0000924 2.04e-11 2.04 -11 -0.038 -0.054 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 6894.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS3 Impedance of arm right (23109) HP_0000924 4.27e-25 4.27 -25 -0.074 -0.092 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 5509.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EML4 Impedance of arm right (23109) HP_0000924 1.05e-16 1.05 -16 -0.086 -0.113 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 2348.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS17 Impedance of arm right (23109) HP_0000924 1.16e-14 1.16 -14 -0.076 -0.102 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 2461.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON THBS4 Impedance of arm right (23109) HP_0000924 1.15e-17 1.15 -17 -0.054 -0.07 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 6441.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANTXR1 Impedance of arm right (23109) HP_0000924 7.76e-19 7.76 -19 -0.12 -0.154 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 1439.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Impedance of arm right (23109) HP_0000924 1.02e-36 1.02 -36 0.145 0.126 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 4407.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Impedance of arm right (23109) HP_0000924 6.4500000000000004e-27 6.45 -27 0.11 0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 5848.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Whole body fat mass (23100) EFO_0005409 5.14e-13 5.14 -13 0.594 0.467 EUR HANCESTRO_0005 UK Biobank 450k GCST90078904 423023 423023 197.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON EML4 Impedance of arm right (23109) HP_0000924 1.05e-16 1.05 -16 -0.086 -0.113 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 2348.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADAMTS3 Impedance of arm right (23109) HP_0000924 3.14e-16 3.14 -16 -0.087 -0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 2184.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Whole body fat mass (23100) EFO_0005409 1.0499999999999999e-23 1.05 -23 0.356 0.298 EUR HANCESTRO_0005 UK Biobank 450k GCST90078904 423023 423023 935.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADAMTS3 Impedance of arm right (23109) HP_0000924 1.35e-15 1.35 -15 -0.104 -0.137 EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 1455.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HNF1A Non cancer illness code self reported - diabetes/ICD10 E14 EFO_0000400 1.06e-11 1.06 -11 7.369 13.106 EUR HANCESTRO_0005 UK Biobank 450k GCST90077723 329052 16961 23.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Treatment or Medication Code - spironolactone EFO_0007010 1.02e-12 1.02 -12 4.299 6.419 EUR HANCESTRO_0005 UK Biobank 450k GCST90078038 320758 859 37.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Leg fat percentage left (23115) EFO_0007800 3.16e-15 3.16 -15 0.164 0.131 EUR HANCESTRO_0005 UK Biobank 450k GCST90078918 423643 423643 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK Non cancer illness code self reported - diabetes/ICD10 E14 EFO_0000400 2.83e-15 2.83 -15 17.083 34.55 EUR HANCESTRO_0005 UK Biobank 450k GCST90077723 329052 16961 20.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK Non cancer illness code self reported - diabetes/ICD10 E14 EFO_0000400 1.41e-11 1.41 -11 15.772 35.106 EUR HANCESTRO_0005 UK Biobank 450k GCST90077723 329052 16961 15.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Treatment or Medication Code - spironolactone EFO_0007010 1.02e-12 1.02 -12 4.299 6.419 EUR HANCESTRO_0005 UK Biobank 450k GCST90078038 320758 859 37.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Treatment or Medication Code - spironolactone EFO_0007010 4.36e-13 4.36 -13 5.639 9.004 EUR HANCESTRO_0005 UK Biobank 450k GCST90078038 320758 859 29.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GCK Non cancer illness code self reported - diabetes/ICD10 E14 EFO_0000400 1.16e-15 1.16 -15 7.276 11.826 EUR HANCESTRO_0005 UK Biobank 450k GCST90077723 329052 16961 33.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON FLG Non cancer illness code self reported - eczema dermatitis/ICD10 L30 EFO_0005319 3.7800000000000003e-29 3.78 -29 1.717 1.888 EUR HANCESTRO_0005 UK Biobank 450k GCST90077854 329052 10233 550.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z51: Encounter for other aftercare and medical care EFO_0004542 1.53e-12 1.53 -12 1.52 1.706 EUR HANCESTRO_0005 UK Biobank 450k GCST90081286 383746 34913 372.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD1 ICD10 Z45: Encounter for adjustment and management of implanted device EFO_0004542 6.19e-12 6.19 -12 8.576 15.825 EUR HANCESTRO_0005 UK Biobank 450k GCST90081264 387920 4136 19.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON WNT1 Heel quantitative ultrasound index QUI direct entry right (4123) EFO_0004514 7.53e-13 7.53 -13 -0.357 -0.491 EUR HANCESTRO_0005 UK Biobank 450k GCST90079157 166358 166358 164.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON WNT1 Heel quantitative ultrasound index QUI direct entry right (4123) EFO_0004514 1.65e-12 1.65 -12 -0.347 -0.48 EUR HANCESTRO_0005 UK Biobank 450k GCST90079157 166358 166358 167.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MEPE Heel quantitative ultrasound index QUI direct entry right (4123) EFO_0004514 9.63e-22 9.63 -22 -0.245 -0.308 EUR HANCESTRO_0005 UK Biobank 450k GCST90079157 166358 166358 748.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN ICD10 I47: Paroxysmal tachycardia EFO_0009493 5.12e-14 5.12 -14 2.848 3.74 EUR HANCESTRO_0005 UK Biobank 450k GCST90080013 387060 4268 73.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLCO1B1 Total bilirubin (30840) EFO_0004570 2.09e-18 2.09 -18 0.281 0.229 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 931.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON UGT1A8 Total bilirubin (30840) EFO_0004570 2.14e-54 2.14 -54 0.537 0.477 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 911.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLCO1B3 Total bilirubin (30840) EFO_0004570 3.9299999999999995e-67 3.93 -67 0.307 0.276 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 2522.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A9 Total bilirubin (30840) EFO_0004570 3.43e-66 3.43 -66 0.478 0.429 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1375.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A7 Total bilirubin (30840) EFO_0004570 3.35e-36 3.35 -36 0.357 0.309 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1419.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A5 Total bilirubin (30840) EFO_0004570 6.67e-27 6.67 -27 0.289 0.244 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1661.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A4 Total bilirubin (30840) EFO_0004570 5.48e-15 5.48 -15 0.517 0.414 SAS HANCESTRO_0006 UK Biobank 450k 9811 9811 347.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A4 Total bilirubin (30840) EFO_0004570 4.0400000000000004e-35 4.04 -35 0.344 0.297 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1488.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A9 Total bilirubin (30840) EFO_0004570 9.240000000000001e-32 9.24 -32 0.651 0.558 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 379.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A6 Total bilirubin (30840) EFO_0004570 2.12e-18 2.12 -18 0.604 0.494 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 269.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON UGT1A6 Total bilirubin (30840) EFO_0004570 6.32e-15 6.32 -15 0.516 0.412 SAS HANCESTRO_0006 UK Biobank 450k 9811 9811 348.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A8 Total bilirubin (30840) EFO_0004570 1e-15 10.0 -16 0.532 0.428 SAS HANCESTRO_0006 UK Biobank 450k 9811 9811 342.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A8 Total bilirubin (30840) EFO_0004570 1.43e-12 1.43 -12 0.577 0.452 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 210.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON RP11-545J16.1 Total bilirubin (30840) EFO_0004570 1.38e-80 1.38 -80 0.283 0.257 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 3515.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLCO1B1 Total bilirubin (30840) EFO_0004570 7.14e-58 7.14 -58 0.32 0.285 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 2026.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A8 Total bilirubin (30840) EFO_0004570 5.25e-49 5.25 -49 0.438 0.386 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1245.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IL33 Non cancer illness code self reported - asthma/ICD10 J45 MONDO_0004979 1.04e-11 1.04 -11 0.706 0.78 EUR HANCESTRO_0005 UK Biobank 450k GCST90077672 329051 45415 398.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A10 Total bilirubin (30840) EFO_0004570 2.6e-54 2.6 -54 0.535 0.475 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 915.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON UGT1A3 Total bilirubin (30840) EFO_0004570 2.91e-14 2.91 -14 0.193 0.154 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 2103.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 C78.6: Secondary malignant neoplasm of retroperitoneum and peritoneum EFO_0009812 5.610000000000001e-21 5.61 -21 7.467 11.356 EUR HANCESTRO_0005 UK Biobank 450k GCST90079623 387930 1833 39.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLCO1B3 Total bilirubin (30840) EFO_0004570 1.03e-28 1.03 -28 0.304 0.259 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1179.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLCO1B1 Total bilirubin (30840) EFO_0004570 7.14e-58 7.14 -58 0.32 0.285 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 2026.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ATP11C Total bilirubin (30840) EFO_0004570 5.79e-16 5.79 -16 0.798 0.643 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 68.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PIEZO1 Total bilirubin (30840) EFO_0004570 2.76e-19 2.76 -19 0.057 0.047 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 23803.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A8 Total bilirubin (30840) EFO_0004570 5.25e-49 5.25 -49 0.438 0.386 EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1245.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Forced expiratory volume in 1 second FEV1 Best measure (20150) EFO_0004314 3.12e-14 3.12 -14 0.093 0.074 EUR HANCESTRO_0005 UK Biobank 450k GCST90078316 322002 322002 5104.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTSL4 Forced expiratory volume in 1 second FEV1 Best measure (20150) EFO_0004314 1.67e-12 1.67 -12 -0.085 -0.117 EUR HANCESTRO_0005 UK Biobank 450k GCST90078316 322002 322002 1744.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Forced expiratory volume in 1 second FEV1 Best measure (20150) EFO_0004314 1.96e-12 1.96 -12 -0.079 -0.109 EUR HANCESTRO_0005 UK Biobank 450k GCST90078316 322002 322002 2001.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 ICD10 Z51.5: Encounter for palliative care EFO_0004542 3.3e-18 3.3 -18 4.036 5.527 EUR HANCESTRO_0005 UK Biobank 450k GCST90081283 387892 5496 61.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GCK Treatment or Medication Code - metformin EFO_0007010 6.88e-12 6.88 -12 6.869 11.913 EUR HANCESTRO_0005 UK Biobank 450k GCST90078119 320758 11579 24.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 ICD10 Z51.5: Encounter for palliative care EFO_0004542 6.6e-17 6.6 -17 3.629 4.91 EUR HANCESTRO_0005 UK Biobank 450k GCST90081283 387892 5496 64.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK Treatment or Medication Code - metformin EFO_0007010 1.45e-11 1.45 -11 4.614 7.191 EUR HANCESTRO_0005 UK Biobank 450k GCST90078119 320758 11579 33.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CSF2RB Eosinophil percentage (30210) EFO_0007991 5.3700000000000004e-36 5.37 -36 -0.39 -0.463 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 642.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Eosinophil percentage (30210) EFO_0007991 9.050000000000001e-26 9.05 -26 -0.299 -0.368 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 710.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON MPO Basophil percentage (30220) EFO_0007992 3.1e-23 3.1 -23 0.105 0.088 EUR HANCESTRO_0005 UK Biobank 450k GCST90078999 418454 418454 12702.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 7.8499999999999995e-28 7.85 -28 6.954 9.844 EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 57.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CSF2RB Eosinophil percentage (30210) EFO_0007991 5.3700000000000004e-36 5.37 -36 -0.39 -0.463 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 642.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CEBPE Eosinophil percentage (30210) EFO_0007991 4.6e-15 4.6 -15 -0.066 -0.088 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 6983.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 9.86e-19 9.86 -19 8.455 13.575 EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 32.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 1.29e-14 1.29 -14 7.311 12.124 EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 27.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 9.86e-19 9.86 -19 8.455 13.575 EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 32.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 Eosinophil percentage (30210) EFO_0007991 2.65e-47 2.65 -47 -0.3 -0.347 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 1515.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GNB1 Eosinophil percentage (30210) EFO_0007991 9.74e-20 9.74 -20 -0.383 -0.488 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 304.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 9.86e-19 9.86 -19 8.455 13.575 EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 32.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Eosinophil percentage (30210) EFO_0007991 1.92e-50 1.92 -50 -0.287 -0.33 EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 1791.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Basal metabolic rate (23105) EFO_0007777 3.56e-17 3.56 -17 -0.578 -0.753 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 44.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON ZFAT Basal metabolic rate (23105) EFO_0007777 1.38e-11 1.38 -11 0.397 0.308 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 170.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SCUBE3 Basal metabolic rate (23105) EFO_0007777 1.12e-15 1.12 -15 -0.103 -0.137 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 1216.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGFALS Basal metabolic rate (23105) EFO_0007777 7.69e-13 7.69 -13 -0.07 -0.096 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 1958.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Basal metabolic rate (23105) EFO_0007777 6.26e-15 6.26 -15 0.361 0.289 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 257.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Basal metabolic rate (23105) EFO_0007777 5.830000000000001e-27 5.83 -27 0.321 0.271 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 554.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON STC2 Basal metabolic rate (23105) EFO_0007777 2.08e-19 2.08 -19 0.131 0.108 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 2489.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SCUBE3 Basal metabolic rate (23105) EFO_0007777 5.18e-14 5.18 -14 -0.073 -0.099 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 2062.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Basal metabolic rate (23105) EFO_0007777 1.96e-15 1.96 -15 0.418 0.336 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 197.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Basal metabolic rate (23105) EFO_0007777 5.17e-17 5.17 -17 -0.355 -0.463 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 115.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Basal metabolic rate (23105) EFO_0007777 1.87e-11 1.87 -11 0.387 0.3 EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 177.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON BRCA2 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 4.2e-22 4.2 -22 2.173 2.543 EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 210.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 3.33e-13 3.33 -13 2.556 3.29 EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 85.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 1.85e-15 1.85 -15 1.659 1.879 EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 309.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 1.06e-15 1.06 -15 3.808 5.28 EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 57.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TYR Skin colour - Light olive (1717) EFO_0003784 2.63e-24 2.63 -24 0.284 0.362 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 54.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON OCA2 Skin colour - Light olive (1717) EFO_0003784 1.44e-15 1.44 -15 0.161 0.253 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 12.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPATA33 Skin colour - Light olive (1717) EFO_0003784 1.68e-14 1.68 -14 1.336 1.439 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 1082.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON OCA2 Skin colour - Light olive (1717) EFO_0003784 1.44e-15 1.44 -15 0.161 0.253 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 12.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON FANCA Skin colour - Light olive (1717) EFO_0003784 2.92e-21 2.92 -21 1.333 1.415 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 1672.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC45A2 Skin colour - Light olive (1717) EFO_0003784 1.09e-32 1.09 -32 0.191 0.251 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 35.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TYRP1 Skin colour - Light olive (1717) EFO_0003784 2.56e-29 2.56 -29 0.486 0.551 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 257.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON DCT Skin colour - Light olive (1717) EFO_0003784 5.19e-12 5.19 -12 0.679 0.758 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 386.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPATA33 Skin colour - Light olive (1717) EFO_0003784 8.65e-15 8.65 -15 1.339 1.442 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 1091.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TYR Skin colour - Light olive (1717) EFO_0003784 2.63e-24 2.63 -24 0.284 0.362 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 54.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SPG7 Skin colour - Light olive (1717) EFO_0003784 1.93e-12 1.93 -12 0.84 0.882 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 2118.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR CAD (RGC) EFO_0001645 1.24e-12 1.24 -12 6.538 10.977 EUR HANCESTRO_0005 UK Biobank 450k GCST90081466 283203 28605 31.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON OCA2 Skin colour - Light olive (1717) EFO_0003784 2.4799999999999998e-89 2.48 -89 0.32 0.358 EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 274.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCA1 Apolipoprotein A (30630) EFO_0004732 2.2300000000000002e-307 2.23 -307 -0.547 -0.574 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 3745.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NR1H3 Apolipoprotein A (30630) EFO_0004732 2.53e-12 2.53 -12 0.18 0.14 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1790.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCAT Apolipoprotein A (30630) EFO_0004732 3.1499999999999995e-23 3.15 -23 -0.904 -1.126 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 57.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SF3B1 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 1.68e-19 1.68 -19 22.526 44.28 EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 19.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCAT Apolipoprotein A (30630) EFO_0004732 3.1499999999999995e-23 3.15 -23 -0.904 -1.126 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 57.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PDE3B Apolipoprotein A (30630) EFO_0004732 1.34e-18 1.34 -18 0.281 0.23 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1058.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LIPC Apolipoprotein A (30630) EFO_0004732 1.44e-35 1.44 -35 0.525 0.454 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 547.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANGPTL3 Apolipoprotein A (30630) EFO_0004732 2.26e-64 2.26 -64 -0.449 -0.508 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 799.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 Illnesses of mother - None of the above group 2 (20110) EFO_0000493 2.21e-14 2.21 -14 0.651 0.726 EUR HANCESTRO_0005 UK Biobank 450k GCST90078283 423686 308506 920.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADH1B Apolipoprotein A (30630) EFO_0004732 5.74e-17 5.74 -17 0.123 0.1 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 5078.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL3 Apolipoprotein A (30630) EFO_0004732 2.69e-94 2.69 -94 -0.406 -0.449 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1517.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCAT Apolipoprotein A (30630) EFO_0004732 3.1499999999999995e-23 3.15 -23 -0.904 -1.126 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 57.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LIPG Apolipoprotein A (30630) EFO_0004732 6.559999999999999e-23 6.56 -23 0.899 0.75 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 124.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON DGAT2 Apolipoprotein A (30630) EFO_0004732 4.59e-15 4.59 -15 -0.118 -0.157 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1797.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 Illnesses of mother - None of the above group 2 (20110) EFO_0000493 1.16e-13 1.16 -13 0.808 0.854 EUR HANCESTRO_0005 UK Biobank 450k GCST90078283 423686 308506 4017.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SCARB1 Apolipoprotein A (30630) EFO_0004732 2.07e-66 2.07 -66 0.359 0.322 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 2051.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCA1 Apolipoprotein A (30630) EFO_0004732 2.22e-184 2.22 -184 -1.254 -1.345 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 333.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LIPG Apolipoprotein A (30630) EFO_0004732 5.529999999999999e-52 5.53 -52 0.587 0.52 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 612.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOA1 Apolipoprotein A (30630) EFO_0004732 7.72e-14 7.72 -14 -1.409 -1.91 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 11.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON TP53 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 1.67e-14 1.67 -14 16.566 33.933 EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 16.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON THBS4 3mm strong meridian right (5132) EFO_0004731 2.77e-22 2.77 -22 -0.235 -0.295 EUR HANCESTRO_0005 UK Biobank 450k GCST90079298 103540 103540 887.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PLA2G12A Apolipoprotein A (30630) EFO_0004732 9.64e-72 9.64 -72 -0.157 -0.176 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 7472.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MYD88 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 9.9e-12 9.9 -12 10.343 20.265 EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 16.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 Illnesses of mother - None of the above group 2 (20110) EFO_0000493 1.11e-15 1.11 -15 0.519 0.609 EUR HANCESTRO_0005 UK Biobank 450k GCST90078283 423686 308506 376.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CHD2 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 2.9e-17 2.9 -17 68.464 182.462 EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 11.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 3mm strong meridian right (5132) EFO_0004731 1.73e-16 1.73 -16 0.971 0.784 EUR HANCESTRO_0005 UK Biobank 450k GCST90079298 103540 103540 89.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 Illnesses of mother - None of the above group 2 (20110) EFO_0000493 4.5699999999999995e-23 4.57 -23 0.562 0.63 EUR HANCESTRO_0005 UK Biobank 450k GCST90078283 423686 308506 784.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PLIN1 Apolipoprotein A (30630) EFO_0004732 5.06e-13 5.06 -13 0.283 0.223 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 766.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PDE3B Apolipoprotein A (30630) EFO_0004732 1.8700000000000003e-27 1.87 -27 0.254 0.215 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1841.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SMAD6 3mm strong meridian right (5132) EFO_0004731 5.36e-19 5.36 -19 0.939 0.77 EUR HANCESTRO_0005 UK Biobank 450k GCST90079298 103540 103540 108.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APOB Apolipoprotein A (30630) EFO_0004732 4.55e-13 4.55 -13 0.31 0.244 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 632.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LIPC Apolipoprotein A (30630) EFO_0004732 4.9200000000000005e-110 4.92 -110 0.358 0.329 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 3349.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APOA5 Apolipoprotein A (30630) EFO_0004732 2.19e-12 2.19 -12 -0.22 -0.305 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 382.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CREB3L3 Apolipoprotein A (30630) EFO_0004732 5.06e-14 5.06 -14 -0.255 -0.345 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 343.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANGPTL8 Apolipoprotein A (30630) EFO_0004732 7.28e-14 7.28 -14 0.351 0.278 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 519.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ABCA1 Apolipoprotein A (30630) EFO_0004732 5.75e-12 5.75 -12 -0.504 -0.704 SAS HANCESTRO_0006 UK Biobank 450k 8973 8973 73.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SMAD6 3mm strong meridian right (5132) EFO_0004731 5.36e-19 5.36 -19 0.939 0.77 EUR HANCESTRO_0005 UK Biobank 450k GCST90079298 103540 103540 108.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANGPTL8 Apolipoprotein A (30630) EFO_0004732 7.28e-14 7.28 -14 0.351 0.278 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 519.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOA5 Apolipoprotein A (30630) EFO_0004732 3.49e-12 3.49 -12 -0.156 -0.218 EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 734.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR MI (RGC) EFO_0000612 1.85e-13 1.85 -13 2.104 2.565 EUR HANCESTRO_0005 UK Biobank 450k GCST90081495 422491 17896 140.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON COL6A1 Corneal hysteresis right (5256) EFO_0010066 3.44e-25 3.44 -25 -0.92 -1.135 EUR HANCESTRO_0005 UK Biobank 450k GCST90079335 105888 105888 75.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Treatment or Medication Code - rosuvastatin EFO_0007010 5.8e-14 5.8 -14 10.505 19.404 EUR HANCESTRO_0005 UK Biobank 450k GCST90078225 320758 2905 20.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Treatment or Medication Code - rosuvastatin EFO_0007010 3.91e-36 3.91 -36 7.4 10.116 EUR HANCESTRO_0005 UK Biobank 450k GCST90078225 320758 2905 72.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGFALS IGF 1 (30770) EFO_0004627 1.86e-45 1.86 -45 -0.594 -0.69 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 337.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Treatment or Medication Code - ezetrol 10mg tablet EFO_0007010 5.31e-14 5.31 -14 16.972 35.486 EUR HANCESTRO_0005 UK Biobank 450k GCST90078227 320758 843 15.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ZNF12 IGF 1 (30770) EFO_0004627 1.12e-18 1.12 -18 0.74 0.605 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 171.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGFBP6 IGF 1 (30770) EFO_0004627 5.25e-12 5.25 -12 -0.222 -0.31 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 397.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SSTR5 IGF 1 (30770) EFO_0004627 1.44e-25 1.44 -25 0.223 0.187 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 2497.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGFALS IGF 1 (30770) EFO_0004627 1.86e-45 1.86 -45 -0.594 -0.69 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 337.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SMAD6 6mm strong meridian right (5133) EFO_0004731 9.67e-20 9.67 -20 1.011 0.832 EUR HANCESTRO_0005 UK Biobank 450k GCST90079299 90887 90887 95.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ZNF12 IGF 1 (30770) EFO_0004627 1.86e-11 1.86 -11 1.079 0.835 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 52.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON PAPPA2 IGF 1 (30770) EFO_0004627 1.48e-16 1.48 -16 0.563 0.455 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 265.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON G6PC IGF 1 (30770) EFO_0004627 1.02e-11 1.02 -11 -0.114 -0.16 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1448.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PDE10A IGF 1 (30770) EFO_0004627 2.57e-14 2.57 -14 0.461 0.367 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 346.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 Ankle spacing width left (4100) EFO_0004324 8.77e-14 8.77 -14 0.315 0.249 EUR HANCESTRO_0005 UK Biobank 450k GCST90079148 166283 166283 580.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON STAB2 IGF 1 (30770) EFO_0004627 2.74e-14 2.74 -14 -0.069 -0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 5384.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON G6PC IGF 1 (30770) EFO_0004627 1.02e-11 1.02 -11 -0.114 -0.16 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1448.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SMAD6 Ankle spacing width left (4100) EFO_0004324 1.21e-12 1.21 -12 0.295 0.232 EUR HANCESTRO_0005 UK Biobank 450k GCST90079148 166283 166283 610.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR Treatment or Medication Code - ezetrol 10mg tablet EFO_0007010 2.07e-12 2.07 -12 43.109 123.119 EUR HANCESTRO_0005 UK Biobank 450k GCST90078227 320758 843 9.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON JAK2 IGF 1 (30770) EFO_0004627 3.5e-17 3.5 -17 -0.473 -0.616 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 149.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R IGF 1 (30770) EFO_0004627 1.07e-13 1.07 -13 0.633 0.501 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 175.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON IGFBP3 IGF 1 (30770) EFO_0004627 2.43e-33 2.43 -33 -0.362 -0.432 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 624.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R IGF 1 (30770) EFO_0004627 7.11e-13 7.11 -13 0.216 0.169 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1432.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGFALS IGF 1 (30770) EFO_0004627 1.1099999999999998e-106 1.11 -106 -0.487 -0.534 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1352.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADH1C IGF 1 (30770) EFO_0004627 2.05e-18 2.05 -18 0.11 0.09 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 7656.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R IGF 1 (30770) EFO_0004627 7.43e-13 7.43 -13 1.339 1.051 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 37.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON GHRH IGF 1 (30770) EFO_0004627 1.52e-20 1.52 -20 -0.551 -0.698 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 141.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON JAK2 IGF 1 (30770) EFO_0004627 1.15e-22 1.15 -22 -0.191 -0.238 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1347.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON JAK2 IGF 1 (30770) EFO_0004627 2.09e-20 2.09 -20 -0.141 -0.179 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 2109.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON JAK2 IGF 1 (30770) EFO_0004627 1.52e-20 1.52 -20 -0.256 -0.324 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 655.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON IGFALS IGF 1 (30770) EFO_0004627 3.02e-16 3.02 -16 -0.689 -0.906 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 65.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ZNF12 IGF 1 (30770) EFO_0004627 7.58e-14 7.58 -14 0.757 0.6 EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 125.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MIP Non cancer illness code self reported - cataract/ICD10 H26 MONDO_0005129 1.92e-13 1.92 -13 16.147 33.887 EUR HANCESTRO_0005 UK Biobank 450k GCST90077757 329052 7792 16.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MIP Non cancer illness code self reported - cataract/ICD10 H26 MONDO_0005129 4.33e-14 4.33 -14 6.725 11.028 EUR HANCESTRO_0005 UK Biobank 450k GCST90077757 329052 7792 29.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TSHR Non cancer illness code self reported - hypothyroidism myxoedema EFO_0004705 6.920000000000001e-29 6.92 -29 2.576 3.042 EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 220.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TSHR Non cancer illness code self reported - hypothyroidism myxoedema EFO_1001055 6.920000000000001e-29 6.92 -29 2.576 3.042 EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 220.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TG Non cancer illness code self reported - hypothyroidism myxoedema EFO_0004705 2.08e-12 2.08 -12 1.914 2.294 EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 165.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 I50.9: Heart failure, unspecified EFO_0003144 1.41e-14 1.41 -14 2.985 3.943 EUR HANCESTRO_0005 UK Biobank 450k GCST90080022 387930 2407 71.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CUBN Microalbumin in urine (30500) EFO_0010967 4.71e-16 4.71 -16 0.132 0.107 EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 5767.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON WNT1 Heel broadband ultrasound attenuation left (4101) EFO_0004514 1.16e-11 1.16 -11 -0.327 -0.46 EUR HANCESTRO_0005 UK Biobank 450k GCST90079149 166276 166276 167.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON COL4A4 Microalbumin in urine (30500) EFO_0010967 6.91e-12 6.91 -12 0.747 0.581 EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 134.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON WNT1 Heel broadband ultrasound attenuation left (4101) EFO_0004514 8.08e-12 8.08 -12 -0.334 -0.468 EUR HANCESTRO_0005 UK Biobank 450k GCST90079149 166276 166276 164.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON INSC Heel broadband ultrasound attenuation left (4101) EFO_0004514 5.47e-12 5.47 -12 0.11 0.086 EUR HANCESTRO_0005 UK Biobank 450k GCST90079149 166276 166276 5117.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN ICD10 I50.9: Heart failure, unspecified EFO_0003144 3.35e-14 3.35 -14 3.64 5.083 EUR HANCESTRO_0005 UK Biobank 450k GCST90080022 387930 2407 52.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON APC ICD10 Z83.7: Family history of diseases of the digestive system EFO_0000493 5.51e-17 5.51 -17 66.802 178.577 EUR HANCESTRO_0005 UK Biobank 450k GCST90081342 387433 947 11.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON ZFAT Ankle spacing width (3143) EFO_0004324 9.45e-12 9.45 -12 0.233 0.181 EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 904.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Ankle spacing width (3143) EFO_0004324 3.57e-31 3.57 -31 0.177 0.151 EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 3777.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Whole body fat free mass (23101) EFO_0004995 6.52e-17 6.52 -17 -0.048 -0.062 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 5845.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PAPPA2 Whole body fat free mass (23101) EFO_0004995 3.75e-14 3.75 -14 -0.071 -0.096 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 2008.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACAN Whole body fat free mass (23101) EFO_0004995 8.5e-19 8.5 -19 -0.362 -0.465 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 115.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Whole body fat free mass (23101) EFO_0004995 8.52e-23 8.52 -23 -0.087 -0.109 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 2643.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ZFAT Whole body fat free mass (23101) EFO_0004995 7.59e-13 7.59 -13 0.395 0.31 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 170.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Whole body fat free mass (23101) EFO_0004995 2.89e-16 2.89 -16 0.357 0.288 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 257.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IRS1 Whole body fat free mass (23101) EFO_0004995 1.0499999999999999e-23 1.05 -23 -0.386 -0.48 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 140.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R Whole body fat free mass (23101) EFO_0004995 3.98e-15 3.98 -15 -0.086 -0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 1485.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IRS1 Whole body fat free mass (23101) EFO_0004995 1.0499999999999999e-23 1.05 -23 -0.386 -0.48 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 140.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACAN Whole body fat free mass (23101) EFO_0004995 2.14e-18 2.14 -18 -0.577 -0.743 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 44.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ZFAT Whole body fat free mass (23101) EFO_0004995 7.59e-13 7.59 -13 0.395 0.31 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 170.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Whole body fat free mass (23101) EFO_0004995 3.19e-12 3.19 -12 0.378 0.295 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 177.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON LCORL Whole body fat free mass (23101) EFO_0004995 1.04e-14 1.04 -14 0.375 0.299 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 213.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACAN Whole body fat free mass (23101) EFO_0004995 8.5e-19 8.5 -19 -0.362 -0.465 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 115.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Whole body fat free mass (23101) EFO_0004995 4.08e-21 4.08 -21 -0.177 -0.223 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 568.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Whole body fat free mass (23101) EFO_0004995 1e-15 10.0 -16 0.45 0.361 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 157.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGFALS Whole body fat free mass (23101) EFO_0004995 1.41e-11 1.41 -11 -0.045 -0.063 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 3693.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PAPPA2 Whole body fat free mass (23101) EFO_0004995 8.5e-12 8.5 -12 -0.163 -0.229 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 285.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Whole body fat free mass (23101) EFO_0004995 2.14e-18 2.14 -18 -0.577 -0.743 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 44.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON STC2 Whole body fat free mass (23101) EFO_0004995 5.91e-24 5.91 -24 0.137 0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 2489.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Whole body fat free mass (23101) EFO_0004995 7.020000000000001e-26 7.02 -26 0.203 0.171 EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 1199.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON COL6A1 Corneal resistance factor left (5265) EFO_0010067 2.4000000000000002e-30 2.4 -30 -1.05 -1.266 EUR HANCESTRO_0005 UK Biobank 450k GCST90079340 105697 105697 73.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL7 Corneal resistance factor left (5265) EFO_0010067 4.52e-12 4.52 -12 -0.109 -0.152 EUR HANCESTRO_0005 UK Biobank 450k GCST90079340 105697 105697 1861.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON COL6A1 Corneal resistance factor left (5265) EFO_0010067 4.09e-14 4.09 -14 -1.037 -1.401 EUR HANCESTRO_0005 UK Biobank 450k GCST90079340 105697 105697 26.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON EGFL8 Non cancer illness code self reported - psoriasis/ICD10 L40 EFO_0000676 2.01e-16 2.01 -16 2.43 3.002 EUR HANCESTRO_0005 UK Biobank 450k GCST90077856 329052 4381 116.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 C78: Secondary malignant neoplasm of respiratory and digestive organs EFO_0009812 8.37e-12 8.37 -12 3.073 4.241 EUR HANCESTRO_0005 UK Biobank 450k GCST90079625 387835 6526 54.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 C78: Secondary malignant neoplasm of respiratory and digestive organs EFO_0009812 2.64e-12 2.64 -12 4.171 6.224 EUR HANCESTRO_0005 UK Biobank 450k GCST90079625 387835 6526 38.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Leg fat free mass right (23113) EFO_0004995 1.24e-21 1.24 -21 0.169 0.14 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 1595.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Leg fat free mass right (23113) EFO_0004995 1.68e-15 1.68 -15 0.413 0.331 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 197.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Leg fat free mass right (23113) EFO_0004995 1.89e-13 1.89 -13 -0.294 -0.401 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 115.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Leg fat free mass right (23113) EFO_0004995 9.94e-17 9.94 -17 -0.44 -0.575 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 71.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON STC2 Leg fat free mass right (23113) EFO_0004995 1.67e-18 1.67 -18 0.126 0.103 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 2488.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Leg fat free mass right (23113) EFO_0004995 3.03e-29 3.03 -29 0.223 0.189 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Leg fat free mass right (23113) EFO_0004995 1e-13 10.0 -14 0.439 0.347 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 157.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Leg fat free mass right (23113) EFO_0004995 3.03e-29 3.03 -29 0.223 0.189 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 7.64e-21 7.64 -21 16.639 29.971 EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 24.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 ICD10 Z99.2: Dependence on renal dialysis EFO_0010690 1.18e-14 1.18 -14 3.152 4.22 EUR HANCESTRO_0005 UK Biobank 450k GCST90081442 385553 1868 65.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PDE3B Leg fat free mass right (23113) EFO_0004995 1.98e-14 1.98 -14 0.124 0.099 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 2067.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R Leg fat free mass right (23113) EFO_0004995 3.05e-14 3.05 -14 -0.086 -0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 1485.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PAPPA2 Leg fat free mass right (23113) EFO_0004995 2.74e-12 2.74 -12 -0.066 -0.092 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 2008.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Leg fat free mass right (23113) EFO_0004995 2.53e-17 2.53 -17 -0.058 -0.075 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 4404.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SCUBE3 Leg fat free mass right (23113) EFO_0004995 1.76e-11 1.76 -11 -0.062 -0.087 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 2062.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Leg fat free mass right (23113) EFO_0004995 4.2399999999999995e-52 4.24 -52 0.123 0.109 EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 6711.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MLH1 ICD10 Z08.0: Follow-up examination after surgery for malignant neoplasm (Z08.0) EFO_0004542 5.110000000000001e-21 5.11 -21 8.679 13.615 EUR HANCESTRO_0005 UK Biobank 450k GCST90081197 387930 4711 36.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MLH1 ICD10 Z08.0: Follow-up examination after surgery for malignant neoplasm (Z08.0) EFO_0004542 1.59e-11 1.59 -11 3.081 4.273 EUR HANCESTRO_0005 UK Biobank 450k GCST90081197 387930 4711 52.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Pulse rate automated reading (102) EFO_0004326 5.37e-34 5.37 -34 0.182 0.157 EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 5669.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Pulse rate automated reading (102) EFO_0004326 1.4599999999999998e-52 1.46 -52 0.328 0.291 EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 2574.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON COL1A1 Non cancer illness code self reported - bone disorder/ICD10 M85 EFO_0004260 1.2e-12 1.2 -12 67.485 215.665 EUR HANCESTRO_0005 UK Biobank 450k GCST90077770 329052 841 9.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON KCNJ5 Pulse rate automated reading (102) EFO_0004326 2.26e-14 2.26 -14 0.33 0.263 EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 782.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RRAD Pulse rate automated reading (102) EFO_0004326 4.46e-13 4.46 -13 0.287 0.226 EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 954.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Pulse rate automated reading (102) EFO_0004326 1.5e-45 1.5 -45 0.239 0.21 EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 4262.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Pulse rate automated reading (102) EFO_0004326 2.3600000000000002e-26 2.36 -26 0.394 0.332 EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 952.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON TTN Pulse rate automated reading (102) EFO_0004326 2.3600000000000002e-26 2.36 -26 0.394 0.332 EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 952.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON IL33 Asthma Strict CC (RGC) MONDO_0004979 1.67e-11 1.67 -11 0.696 0.773 EUR HANCESTRO_0005 UK Biobank 450k GCST90081460 376289 39436 344.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SPTB Mean reticulocyte volume (30260) EFO_0010701 6.01e-19 6.01 -19 -0.557 -0.715 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 129.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON POLE Mean reticulocyte volume (30260) EFO_0010701 4.34e-39 4.34 -39 0.226 0.196 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 3741.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CAD Mean reticulocyte volume (30260) EFO_0010701 8.510000000000001e-31 8.51 -31 0.231 0.198 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 2879.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON RTEL1 Mean reticulocyte volume (30260) EFO_0010701 7.84e-17 7.84 -17 0.244 0.198 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1493.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CAD Mean reticulocyte volume (30260) EFO_0010701 8.36e-62 8.36 -62 1.178 1.054 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 208.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON E2F8 Mean reticulocyte volume (30260) EFO_0010701 1.24e-14 1.24 -14 0.536 0.428 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 272.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ANK1 Mean reticulocyte volume (30260) EFO_0010701 1.19e-20 1.19 -20 -0.073 -0.092 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 8817.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CHTF18 Mean reticulocyte volume (30260) EFO_0010701 2.78e-13 2.78 -13 0.275 0.217 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 949.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC4A1 Mean reticulocyte volume (30260) EFO_0010701 6.65e-16 6.65 -16 -0.098 -0.13 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 3262.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 C77: Secondary and unspecified malignant neoplasm of lymph nodes MONDO_0024339 8.93e-12 8.93 -12 1.798 2.127 EUR HANCESTRO_0005 UK Biobank 450k GCST90079620 387882 7019 169.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CA1 Mean reticulocyte volume (30260) EFO_0010701 1.18e-12 1.18 -12 -0.196 -0.27 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 582.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TYMP Mean reticulocyte volume (30260) EFO_0010701 3.55e-18 3.55 -18 -0.151 -0.196 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1659.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ATM ICD10 C77: Secondary and unspecified malignant neoplasm of lymph nodes MONDO_0024339 5.71e-14 5.71 -14 3.217 4.363 EUR HANCESTRO_0005 UK Biobank 450k GCST90079620 387882 7019 61.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CLSPN Mean reticulocyte volume (30260) EFO_0010701 6.9e-12 6.9 -12 0.473 0.368 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 293.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADCK3 Mean reticulocyte volume (30260) EFO_0010701 1.75e-15 1.75 -15 -0.124 -0.164 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 2002.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean reticulocyte volume (30260) EFO_0010701 9.289999999999999e-42 9.29 -42 -1.194 -1.396 SAS HANCESTRO_0006 UK Biobank 450k 9692 9692 99.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON OR51V1 Mean reticulocyte volume (30260) EFO_0010701 1.39e-11 1.39 -11 -0.6 -0.845 SAS HANCESTRO_0006 UK Biobank 450k 9692 9692 71.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD1 ICD10 I12: Hypertensive chronic kidney disease MONDO_0024633 2e-11 2.0 -11 2.927 4.006 EUR HANCESTRO_0005 UK Biobank 450k GCST90079964 387912 1660 55.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SPTB Mean reticulocyte volume (30260) EFO_0010701 3.5299999999999995e-23 3.53 -23 -0.822 -1.025 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 78.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON RHAG Mean reticulocyte volume (30260) EFO_0010701 1.45e-19 1.45 -19 -0.179 -0.229 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1331.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Mean reticulocyte volume (30260) EFO_0010701 9.289999999999999e-42 9.29 -42 -1.194 -1.396 SAS HANCESTRO_0006 UK Biobank 450k 9692 9692 99.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TERT Mean reticulocyte volume (30260) EFO_0010701 9.89e-15 9.89 -15 0.563 0.45 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 247.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Mean reticulocyte volume (30260) EFO_0010701 9.289999999999999e-42 9.29 -42 -1.194 -1.396 SAS HANCESTRO_0006 UK Biobank 450k 9692 9692 99.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Mean reticulocyte volume (30260) EFO_0010701 4.76e-47 4.76 -47 -1.163 -1.346 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 96.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 Mean reticulocyte volume (30260) EFO_0010701 4.05e-12 4.05 -12 -0.135 -0.187 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1149.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CAD Mean reticulocyte volume (30260) EFO_0010701 4.510000000000001e-31 4.51 -31 0.704 0.602 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 311.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ANK1 Mean reticulocyte volume (30260) EFO_0010701 8.6e-20 8.6 -20 -0.428 -0.546 EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 234.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON MIP ICD10 H26: Other cataract MONDO_0005129 4.05e-18 4.05 -18 13.424 24.134 EUR HANCESTRO_0005 UK Biobank 450k GCST90079893 384442 20291 27.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MIP ICD10 H26: Other cataract MONDO_0005129 4.6100000000000004e-33 4.61 -33 8.018 11.272 EUR HANCESTRO_0005 UK Biobank 450k GCST90079893 384442 20291 70.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MIP ICD10 H26: Other cataract MONDO_0005129 4.6100000000000004e-33 4.61 -33 8.018 11.272 EUR HANCESTRO_0005 UK Biobank 450k GCST90079893 384442 20291 70.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MIP ICD10 H26: Other cataract MONDO_0005129 4.05e-18 4.05 -18 13.424 24.134 EUR HANCESTRO_0005 UK Biobank 450k GCST90079893 384442 20291 27.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PDE3B HDL cholesterol (30760) EFO_0004612 1.12e-18 1.12 -18 0.302 0.247 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 866.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOB HDL cholesterol (30760) EFO_0004612 5.87e-22 5.87 -22 0.376 0.312 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 640.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PLIN1 HDL cholesterol (30760) EFO_0004612 2.5000000000000002e-22 2.5 -22 0.346 0.288 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 774.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CETP HDL cholesterol (30760) EFO_0004612 2.9600000000000002e-105 2.96 -105 1.024 0.939 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 379.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CETP HDL cholesterol (30760) EFO_0004612 5.41e-17 5.41 -17 0.88 0.713 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 97.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON APOC3 HDL cholesterol (30760) EFO_0004612 2.47e-52 2.47 -52 0.868 0.769 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 266.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCA1 HDL cholesterol (30760) EFO_0004612 2.2300000000000002e-307 2.23 -307 -0.488 -0.515 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 3755.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ABCA1 HDL cholesterol (30760) EFO_0004612 4.6499999999999993e-104 4.65 -104 -0.637 -0.701 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 644.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SCARB1 HDL cholesterol (30760) EFO_0004612 3.74e-30 3.74 -30 0.439 0.375 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 624.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CD36 HDL cholesterol (30760) EFO_0004612 1.52e-21 1.52 -21 0.166 0.138 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 3282.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LPL HDL cholesterol (30760) EFO_0004612 1.12e-33 1.12 -33 -0.352 -0.42 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 565.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LIPC HDL cholesterol (30760) EFO_0004612 3.2900000000000003e-57 3.29 -57 0.339 0.302 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1900.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CETP HDL cholesterol (30760) EFO_0004612 2.9600000000000002e-105 2.96 -105 1.024 0.939 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 379.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON NR1H3 HDL cholesterol (30760) EFO_0004612 1.12e-11 1.12 -11 0.438 0.34 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 270.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LIPG HDL cholesterol (30760) EFO_0004612 5.409999999999999e-23 5.41 -23 0.578 0.482 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 282.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ANGPTL8 HDL cholesterol (30760) EFO_0004612 8.18e-20 8.18 -20 0.391 0.321 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 539.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PDE3B HDL cholesterol (30760) EFO_0004612 9.73e-56 9.73 -56 0.339 0.301 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1852.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCAT HDL cholesterol (30760) EFO_0004612 1.1500000000000001e-29 1.15 -29 -1.039 -1.256 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 57.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOC3 HDL cholesterol (30760) EFO_0004612 2.2300000000000002e-307 2.23 -307 0.836 0.8 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1988.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PPARG HDL cholesterol (30760) EFO_0004612 3.51e-15 3.51 -15 -0.296 -0.394 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 267.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APOA1 HDL cholesterol (30760) EFO_0004612 5.44e-15 5.44 -15 -0.927 -1.237 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 27.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LIPG HDL cholesterol (30760) EFO_0004612 1.38e-18 1.38 -18 0.779 0.637 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 128.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL3 HDL cholesterol (30760) EFO_0004612 1.08e-32 1.08 -32 -0.21 -0.251 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1519.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PLIN1 HDL cholesterol (30760) EFO_0004612 2.5000000000000002e-22 2.5 -22 0.346 0.288 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 774.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PLA2G12A HDL cholesterol (30760) EFO_0004612 3.2300000000000003e-47 3.23 -47 -0.119 -0.137 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 7488.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APOA1 HDL cholesterol (30760) EFO_0004612 8.66e-16 8.66 -16 -0.681 -0.9 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 54.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LIPG HDL cholesterol (30760) EFO_0004612 8.87e-44 8.87 -44 0.522 0.457 EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 620.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR Treatment or Medication Code - atorvastatin EFO_0007010 1.02e-16 1.02 -16 4.793 6.939 EUR HANCESTRO_0005 UK Biobank 450k GCST90078178 320758 16654 51.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR Treatment or Medication Code - atorvastatin EFO_0007010 1.97e-18 1.97 -18 10.316 17.39 EUR HANCESTRO_0005 UK Biobank 450k GCST90078178 320758 16654 32.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ZFAT Leg predicted mass right (23114) EFO_0004302 1.3400000000000002e-21 1.34 -21 0.168 0.139 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 1595.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN ICD10 I42.9: Cardiomyopathy, unspecified EFO_0000318 6.62e-19 6.62 -19 5.907 8.742 EUR HANCESTRO_0005 UK Biobank 450k GCST90079999 387930 681 42.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Leg predicted mass right (23114) EFO_0004302 5.62e-16 5.62 -16 -0.07 -0.092 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 2643.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PDE3B Leg predicted mass right (23114) EFO_0004302 6.41e-12 6.41 -12 0.148 0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 1200.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Leg predicted mass right (23114) EFO_0004302 2.8000000000000002e-28 2.8 -28 0.138 0.117 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 3012.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 I42.0: Dilated cardiomyopathy EFO_0000407 4.3900000000000005e-50 4.39 -50 8.086 10.649 EUR HANCESTRO_0005 UK Biobank 450k GCST90079998 387930 858 93.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Leg predicted mass right (23114) EFO_0004302 2.02e-12 2.02 -12 -0.039 -0.054 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 5845.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN ICD10 I42.0: Dilated cardiomyopathy EFO_0000407 2.4e-31 2.4 -31 18.244 29.742 EUR HANCESTRO_0005 UK Biobank 450k GCST90079998 387930 858 35.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON TTN Leg predicted mass right (23114) EFO_0004302 2.96e-17 2.96 -17 -0.057 -0.075 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 4404.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PDE3B Leg predicted mass right (23114) EFO_0004302 6.41e-12 6.41 -12 0.148 0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 1200.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IRS1 Leg predicted mass right (23114) EFO_0004302 7.65e-18 7.65 -18 -0.327 -0.424 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 140.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TTN ICD10 I42.9: Cardiomyopathy, unspecified EFO_0000318 1.71e-13 1.71 -13 11.143 21.158 EUR HANCESTRO_0005 UK Biobank 450k GCST90079999 387930 681 18.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON SCUBE3 Leg predicted mass right (23114) EFO_0004302 6.45e-13 6.45 -13 -0.087 -0.12 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 1216.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN ICD10 I42.0: Dilated cardiomyopathy EFO_0000407 2.4e-31 2.4 -31 18.244 29.742 EUR HANCESTRO_0005 UK Biobank 450k GCST90079998 387930 858 35.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON LCORL Leg predicted mass right (23114) EFO_0004302 9.74e-14 9.74 -14 0.436 0.345 EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 157.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ASXL1 Past tobacco smoking - Smoked on most or all days (1249) EFO_0005671 4.71e-15 4.71 -15 1.686 1.922 EUR HANCESTRO_0005 UK Biobank 450k GCST90077585 397089 109016 461.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MYO6 Hearing aid user - Yes (3393) EFO_0009720 3.46e-25 3.46 -25 9.262 14.108 EUR HANCESTRO_0005 UK Biobank 450k GCST90079053 281979 15741 49.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MYO6 Hearing aid user - Yes (3393) EFO_0009720 1.63e-20 1.63 -20 6.19 9.095 EUR HANCESTRO_0005 UK Biobank 450k GCST90079053 281979 15741 52.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TECTA Hearing aid user - Yes (3393) EFO_0009720 2.13e-13 2.13 -13 2.653 3.442 EUR HANCESTRO_0005 UK Biobank 450k GCST90079053 281979 15741 85.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PKD1 ICD10 Z46.6: Encounter for fitting and adjustment of urinary device EFO_0004542 5.17e-13 5.17 -13 12.675 25.255 EUR HANCESTRO_0005 UK Biobank 450k GCST90081265 387928 5605 17.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON MSH6 Type of Cancer: Malignant neoplasm of endometrium (40006) MONDO_0011962 7.480000000000001e-27 7.48 -27 15.541 25.654 EUR HANCESTRO_0005 UK Biobank 450k GCST90079109 41005 1536 38.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON A1CF Triglycerides (30870) EFO_0004530 3.23e-25 3.23 -25 0.112 0.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 9950.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PDE3B Triglycerides (30870) EFO_0004530 3.12e-43 3.12 -43 -0.316 -0.368 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 1159.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRE Triglycerides (30870) EFO_0004530 1.53e-12 1.53 -12 0.098 0.077 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 6967.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL8 Triglycerides (30870) EFO_0004530 3.770000000000001e-27 3.77 -27 -0.323 -0.394 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 602.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOA5 Triglycerides (30870) EFO_0004530 8.48e-18 8.48 -18 0.535 0.436 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 320.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOB Triglycerides (30870) EFO_0004530 2.4899999999999997e-54 2.49 -54 -0.38 -0.435 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 1036.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PDE3B Triglycerides (30870) EFO_0004530 2.15e-60 2.15 -60 -0.293 -0.333 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 2002.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH6 ICD10 C54.1: Malignant neoplasm of endometrium MONDO_0011962 1.0600000000000001e-21 1.06 -21 25.805 50.212 EUR HANCESTRO_0005 UK Biobank 450k GCST90079607 228786 1469 21.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MSH6 ICD10 C54.1: Malignant neoplasm of endometrium MONDO_0011962 2.32e-13 2.32 -13 5.125 7.935 EUR HANCESTRO_0005 UK Biobank 450k GCST90079607 228786 1469 33.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CREB3L3 Triglycerides (30870) EFO_0004530 4.9e-12 4.9 -12 0.416 0.324 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 369.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOB Triglycerides (30870) EFO_0004530 2.2899999999999998e-54 2.29 -54 -0.151 -0.173 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 6772.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APOA5 Triglycerides (30870) EFO_0004530 5.260000000000001e-72 5.26 -72 0.885 0.797 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 417.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANGPTL3 Triglycerides (30870) EFO_0004530 1.54e-23 1.54 -23 -0.53 -0.659 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 186.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LPL Triglycerides (30870) EFO_0004530 7.97e-30 7.97 -30 0.454 0.387 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 705.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APOB Triglycerides (30870) EFO_0004530 1.54e-76 1.54 -76 -0.23 -0.258 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 4345.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANGPTL3 Triglycerides (30870) EFO_0004530 1.4e-14 1.4 -14 -0.534 -0.717 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 93.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ANGPTL4 Triglycerides (30870) EFO_0004530 1.67e-44 1.67 -44 -0.308 -0.359 EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 1238.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SRSF2 ICD10 D69.6: Thrombocytopenia, unspecified HP_0001873 2.92e-22 2.92 -22 23.614 44.724 EUR HANCESTRO_0005 UK Biobank 450k GCST90079714 387579 1788 22.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON JAK2 ICD10 D69.6: Thrombocytopenia, unspecified HP_0001873 5.41e-18 5.41 -18 4.89 7.009 EUR HANCESTRO_0005 UK Biobank 450k GCST90079714 387579 1788 46.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 ICD10 D69.6: Thrombocytopenia, unspecified HP_0001873 3.02e-12 3.02 -12 4.076 6.049 EUR HANCESTRO_0005 UK Biobank 450k GCST90079714 387579 1788 38.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PIEZO1 ICD10 I83: Varicose veins of lower extremities HP_0002619 1.48e-13 1.48 -13 1.482 1.645 EUR HANCESTRO_0005 UK Biobank 450k GCST90080066 380908 15125 434.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON KDM5B Mean time to correctly identify matches (20023) EFO_0008354 1.75e-15 1.75 -15 0.572 0.459 EUR HANCESTRO_0005 UK Biobank 450k GCST90078252 427920 427920 253.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON KDM5B Mean time to correctly identify matches (20023) EFO_0008354 1.75e-15 1.75 -15 0.572 0.459 EUR HANCESTRO_0005 UK Biobank 450k GCST90078252 427920 427920 253.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APC Non cancer illness code self reported - rectal or colon adenoma polyps/ICD10 D12 EFO_1000633 6.84e-16 6.84 -16 40.879 100.629 EUR HANCESTRO_0005 UK Biobank 450k GCST90077868 329052 1492 12.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APC Non cancer illness code self reported - rectal or colon adenoma polyps/ICD10 D12 EFO_1000633 6.84e-16 6.84 -16 40.879 100.629 EUR HANCESTRO_0005 UK Biobank 450k GCST90077868 329052 1492 12.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON FLG ChildhoodAsthmaCases vs AdultAsthmaCases (RGC) MONDO_0005405 4.49e-12 4.49 -12 1.438 1.594 EUR HANCESTRO_0005 UK Biobank 450k GCST90081472 43153 16952 787.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Non cancer illness code self reported - high cholesterol HP_0003124 2.18e-20 2.18 -20 7.912 12.261 EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 53.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON APOB Non cancer illness code self reported - high cholesterol HP_0003124 1.02e-22 1.02 -22 0.194 0.269 EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 23.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOC3 Cholesterol lowering medication (6177) EFO_0007010 1.67e-12 1.67 -12 0.437 0.55 EUR HANCESTRO_0005 UK Biobank 450k GCST90079486 69473 49091 173.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 Non cancer illness code self reported - high cholesterol HP_0003124 2.25e-18 2.25 -18 0.228 0.318 EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 24.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR Cholesterol lowering medication (6177) EFO_0007010 6.27e-18 6.27 -18 3.604 4.822 EUR HANCESTRO_0005 UK Biobank 450k GCST90079486 69473 49091 303.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LDLR Non cancer illness code self reported - high cholesterol HP_0003124 2.33e-99 2.33 -99 3.504 3.936 EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 601.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 Z83: Family history of other specific disorders EFO_0000493 4.36e-15 4.36 -15 18.592 38.592 EUR HANCESTRO_0005 UK Biobank 450k GCST90081343 376753 4125 16.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON NF1 Cystatin C (30720) EFO_0004617 1.41e-14 1.41 -14 0.544 0.434 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 212.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GATA5 Cystatin C (30720) EFO_0004617 1.78e-11 1.78 -11 -0.049 -0.069 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 6884.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GIGYF1 Cystatin C (30720) EFO_0004617 3.68e-12 3.68 -12 0.591 0.461 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 154.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC34A3 Cystatin C (30720) EFO_0004617 4.15e-29 4.15 -29 0.353 0.3 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 940.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CST3 Cystatin C (30720) EFO_0004617 9.42e-123 9.42 -123 -2.982 -3.252 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 38.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LRP2 Cystatin C (30720) EFO_0004617 3.08e-23 3.08 -23 -0.351 -0.437 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 350.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC34A3 Cystatin C (30720) EFO_0004617 8.33e-14 8.33 -14 0.378 0.299 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 420.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CST3 Cystatin C (30720) EFO_0004617 2.2300000000000002e-307 2.23 -307 -2.747 -2.842 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 304.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PKD2 Cystatin C (30720) EFO_0004617 1.66e-12 1.66 -12 1.081 0.846 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 47.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON MLH1 ICD10 C18: Malignant neoplasm of colon EFO_1001950 2.54e-17 2.54 -17 8.286 13.52 EUR HANCESTRO_0005 UK Biobank 450k GCST90079581 387657 3899 30.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 Cystatin C (30720) EFO_0004617 3.81e-17 3.81 -17 0.204 0.165 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 1763.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC34A1 Cystatin C (30720) EFO_0004617 4.46e-16 4.46 -16 0.113 0.091 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 5426.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC34A3 Cystatin C (30720) EFO_0004617 4.15e-29 4.15 -29 0.353 0.3 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 940.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC34A1 Cystatin C (30720) EFO_0004617 3.81e-15 3.81 -15 0.184 0.147 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 1929.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH2 ICD10 C18: Malignant neoplasm of colon EFO_1001950 2.27e-17 2.27 -17 23.825 49.585 EUR HANCESTRO_0005 UK Biobank 450k GCST90079581 387657 3899 17.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON CLDN10 Cystatin C (30720) EFO_0004617 1.08e-32 1.08 -32 0.471 0.404 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 581.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LRP2 Cystatin C (30720) EFO_0004617 2.8e-13 2.8 -13 -0.416 -0.568 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 112.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON PKD1 Cystatin C (30720) EFO_0004617 2.89e-49 2.89 -49 1.169 1.032 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 138.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON CST9L Cystatin C (30720) EFO_0004617 1.55e-11 1.55 -11 -0.265 -0.373 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 237.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LRP2 Cystatin C (30720) EFO_0004617 1.75e-34 1.75 -34 -0.121 -0.144 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 4937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD2 Cystatin C (30720) EFO_0004617 2.67e-17 2.67 -17 0.836 0.678 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 105.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH2 ICD10 C18: Malignant neoplasm of colon EFO_1001950 3.95e-16 3.95 -16 19.554 40.007 EUR HANCESTRO_0005 UK Biobank 450k GCST90079581 387657 3899 17.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 Cystatin C (30720) EFO_0004617 3.81e-17 3.81 -17 0.204 0.165 EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 1763.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 Illnesses of siblings - Breast cancer (20111) EFO_0009640 1.46e-13 1.46 -13 3.314 4.554 EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 59.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 Illnesses of siblings - Breast cancer (20111) EFO_0009640 1.48e-15 1.48 -15 4.874 7.192 EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 44.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 Illnesses of siblings - Breast cancer (20111) EFO_0009640 4.8700000000000005e-21 4.87 -21 4.075 5.461 EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 74.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON CHEK2 Illnesses of siblings - Breast cancer (20111) EFO_0009640 1.38e-13 1.38 -13 1.543 1.731 EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 382.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 Illnesses of siblings - Breast cancer (20111) EFO_0009640 6.1e-14 6.1 -14 2.284 2.833 EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 115.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 Z86.0: Personal history of in-situ and benign neoplasms and neoplasms of uncertain behavior EFO_0000616 1.79e-18 1.79 -18 16.465 30.794 EUR HANCESTRO_0005 UK Biobank 450k GCST90081355 387929 6926 22.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON FLCN Non cancer illness code self reported - spontaneous pneumothorax recurrent pneumothorax/ICD10 J93 HP_0002108 1.04e-13 1.04 -13 18.701 40.47 EUR HANCESTRO_0005 UK Biobank 450k GCST90077686 329051 839 14.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Arm fat percentage left (23123) EFO_0007800 1.57e-12 1.57 -12 0.455 0.356 EUR HANCESTRO_0005 UK Biobank 450k GCST90078926 423545 423545 197.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 ICD10 C92: Myeloid leukemia EFO_0002427 5.06e-36 5.06 -36 17.93 28.161 EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 41.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TSHR Treatment or Medication Code - levothyroxine sodium EFO_0007010 1.3800000000000001e-22 1.38 -22 2.432 2.906 EUR HANCESTRO_0005 UK Biobank 450k GCST90078224 320758 19017 182.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Arm fat percentage left (23123) EFO_0007800 1.57e-12 1.57 -12 0.455 0.356 EUR HANCESTRO_0005 UK Biobank 450k GCST90078926 423545 423545 197.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASXL1 ICD10 C92: Myeloid leukemia EFO_0002427 1.56e-11 1.56 -11 9.968 19.45 EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 16.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 ICD10 C92: Myeloid leukemia EFO_0002427 5.41e-16 5.41 -16 15.496 30.07 EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 18.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON TP53 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 1.14e-11 1.14 -11 4.494 6.935 EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 34.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 2.07e-14 2.07 -14 1.528 1.703 EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 396.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Arm fat mass left (23124) EFO_0005409 5.91e-26 5.91 -26 0.33 0.278 EUR HANCESTRO_0005 UK Biobank 450k GCST90078927 423512 423512 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 7.31e-26 7.31 -26 4.743 6.34 EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 86.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 1.03e-16 1.03 -16 2.969 3.839 EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 86.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ATM ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 2.77e-12 2.77 -12 1.551 1.754 EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 314.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MSH6 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 4.2e-12 4.2 -12 2.657 3.502 EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 79.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ATM ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 1.28e-15 1.28 -15 2.652 3.369 EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 96.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ATM ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 2.73e-15 2.73 -15 2.715 3.479 EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 90.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APEH Red blood cell erythrocyte count (30010) EFO_0004305 2.3e-12 2.3 -12 -0.127 -0.176 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 975.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Red blood cell erythrocyte count (30010) EFO_0004305 1.89e-12 1.89 -12 -0.102 -0.142 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 1517.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.59e-14 1.59 -14 2.235 1.781 EAS HANCESTRO_0009 UK Biobank 450k 2153 2153 16.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TFRC Red blood cell erythrocyte count (30010) EFO_0004305 3.21e-18 3.21 -18 0.957 0.781 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 76.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 Illnesses of mother - Breast cancer (20110) EFO_0009640 1.1e-33 1.1 -33 1.97 2.199 EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 444.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON KLF1 Red blood cell erythrocyte count (30010) EFO_0004305 4.21e-13 4.21 -13 0.387 0.304 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 348.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PALB2 Illnesses of mother - Breast cancer (20110) EFO_0009640 4.42e-14 4.42 -14 1.747 2.02 EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 244.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CAD Red blood cell erythrocyte count (30010) EFO_0004305 1.27e-12 1.27 -12 -0.278 -0.384 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 210.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PKLR Red blood cell erythrocyte count (30010) EFO_0004305 9.37e-14 9.37 -14 -0.141 -0.191 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 934.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON EEF2 Red blood cell erythrocyte count (30010) EFO_0004305 6.51e-13 6.51 -13 -1.182 -1.625 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 12.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON BRCA2 Illnesses of mother - Breast cancer (20110) EFO_0009640 3.9699999999999997e-54 3.97 -54 3.041 3.5 EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 312.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 5.24e-29 5.24 -29 2.357 2.006 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 19.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACO1 Red blood cell erythrocyte count (30010) EFO_0004305 3.26e-17 3.26 -17 0.405 0.329 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 403.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 Illnesses of mother - Breast cancer (20110) EFO_0009640 2.6e-51 2.6 -51 3.177 3.693 EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 277.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANKRD12 Red blood cell erythrocyte count (30010) EFO_0004305 1.18e-12 1.18 -12 0.401 0.314 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 312.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON OR51V1 Red blood cell erythrocyte count (30010) EFO_0004305 5.73e-16 5.73 -16 1.126 0.906 SAS HANCESTRO_0006 UK Biobank 450k 9953 9953 75.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 Illnesses of mother - Breast cancer (20110) EFO_0009640 5.86e-19 5.86 -19 2.067 2.426 EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 212.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 Illnesses of mother - Breast cancer (20110) EFO_0009640 2.67e-14 2.67 -14 1.224 1.29 EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 1720.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PTPN14 ICD10 C44.3: Other and unspecified malignant neoplasm of skin of other and unspecified parts of face EFO_0004198 2.09e-12 2.09 -12 9.788 18.491 EUR HANCESTRO_0005 UK Biobank 450k GCST90079596 387930 7572 19.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 5.81e-16 5.81 -16 2.486 2.001 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 10.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON HBA2 Red blood cell erythrocyte count (30010) EFO_0004305 1.07e-12 1.07 -12 1.137 0.892 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 39.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON KLF1 Red blood cell erythrocyte count (30010) EFO_0004305 4.21e-13 4.21 -13 0.387 0.304 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 348.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TNFRSF13B Red blood cell erythrocyte count (30010) EFO_0004305 3.11e-20 3.11 -20 0.104 0.086 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 7149.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.8000000000000002e-158 1.8 -158 2.277 2.122 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 98.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TFRC Red blood cell erythrocyte count (30010) EFO_0004305 2.76e-24 2.76 -24 1.018 0.853 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 87.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Red blood cell erythrocyte count (30010) EFO_0004305 5.81e-16 5.81 -16 2.486 2.001 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 10.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON PKLR Red blood cell erythrocyte count (30010) EFO_0004305 5e-21 5.0 -21 -0.078 -0.098 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 5721.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TFRC Red blood cell erythrocyte count (30010) EFO_0004305 2.76e-24 2.76 -24 1.018 0.853 EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 87.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON A1CF Gamma glutamyltransferase (30730) EFO_0004532 2.27e-12 2.27 -12 0.63 0.493 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 150.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CHEK2 Age at menopause last menstrual period (3581) EFO_0004704 2.0599999999999997e-40 2.06 -40 0.331 0.288 EUR HANCESTRO_0005 UK Biobank 450k GCST90079064 140172 140172 2152.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GGT1 Gamma glutamyltransferase (30730) EFO_0004532 3.21e-69 3.21 -69 -1.03 -1.159 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 175.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON A1CF Gamma glutamyltransferase (30730) EFO_0004532 7.27e-13 7.27 -13 0.278 0.218 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 802.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CABIN1 Gamma glutamyltransferase (30730) EFO_0004532 1.66e-14 1.66 -14 -0.042 -0.057 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 14685.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TNFRSF10B Gamma glutamyltransferase (30730) EFO_0004532 4.44e-12 4.44 -12 0.224 0.174 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1165.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 ICD10 N18.9: Chronic kidney disease, unspecified EFO_0003884 1.63e-38 1.63 -38 24.953 40.562 EUR HANCESTRO_0005 UK Biobank 450k GCST90080583 387930 3916 40.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PKD1 ICD10 N18.9: Chronic kidney disease, unspecified EFO_0003884 9.25e-36 9.25 -36 19.717 31.488 EUR HANCESTRO_0005 UK Biobank 450k GCST90080583 387930 3916 41.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 Age at menopause last menstrual period (3581) EFO_0004704 1.77e-11 1.77 -11 -0.059 -0.083 EUR HANCESTRO_0005 UK Biobank 450k GCST90079064 140172 140172 6133.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CHEK2 Age at menopause last menstrual period (3581) EFO_0004704 2.08e-21 2.08 -21 0.293 0.243 EUR HANCESTRO_0005 UK Biobank 450k GCST90079064 140172 140172 1597.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GGT1 Gamma glutamyltransferase (30730) EFO_0004532 2.79e-12 2.79 -12 -0.752 -1.045 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 34.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON RORC Gamma glutamyltransferase (30730) EFO_0004532 3.82e-40 3.82 -40 0.244 0.213 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 2890.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GGT1 Gamma glutamyltransferase (30730) EFO_0004532 6.95e-44 6.95 -44 -1.28 -1.491 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 66.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PKHD1 Gamma glutamyltransferase (30730) EFO_0004532 4.55e-15 4.55 -15 0.242 0.194 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1214.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKHD1 Gamma glutamyltransferase (30730) EFO_0004532 1.1700000000000001e-21 1.17 -21 0.136 0.113 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 5327.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON UPB1 Gamma glutamyltransferase (30730) EFO_0004532 1.8499999999999999e-28 1.85 -28 0.257 0.218 EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1956.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 ICD10 N18.9: Chronic kidney disease, unspecified EFO_0003884 9.25e-36 9.25 -36 19.717 31.488 EUR HANCESTRO_0005 UK Biobank 450k GCST90080583 387930 3916 41.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Body mass index BMI (23104) EFO_0004340 6.49e-28 6.49 -28 0.346 0.293 EUR HANCESTRO_0005 UK Biobank 450k GCST90078907 423694 423694 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Body mass index BMI (23104) EFO_0004340 6.49e-28 6.49 -28 0.346 0.293 EUR HANCESTRO_0005 UK Biobank 450k GCST90078907 423694 423694 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 High light scatter reticulocyte count (30300) EFO_0007986 1.43e-16 1.43 -16 0.245 0.198 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1495.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON IFRD2 High light scatter reticulocyte count (30300) EFO_0007986 4.64e-38 4.64 -38 0.403 0.35 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1171.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IQGAP2 High light scatter reticulocyte count (30300) EFO_0007986 5.98e-22 5.98 -22 0.111 0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 9493.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC4A1 High light scatter reticulocyte count (30300) EFO_0007986 4.21e-20 4.21 -20 1.148 0.946 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 81.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON GMPR High light scatter reticulocyte count (30300) EFO_0007986 4.1699999999999995e-30 4.17 -30 0.312 0.266 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1583.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON RHAG High light scatter reticulocyte count (30300) EFO_0007986 5.050000000000001e-27 5.05 -27 0.557 0.471 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 450.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 High light scatter reticulocyte count (30300) EFO_0007986 4.02e-20 4.02 -20 0.246 0.203 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1767.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB High light scatter reticulocyte count (30300) EFO_0007986 1.4700000000000002e-31 1.47 -31 1.291 1.106 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 96.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RHAG High light scatter reticulocyte count (30300) EFO_0007986 1.25e-15 1.25 -15 0.254 0.204 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1330.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SRSF2 High light scatter reticulocyte count (30300) EFO_0007986 3.28e-35 3.28 -35 1.005 0.868 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 175.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS17 Forced vital capacity FVC (3062) EFO_0004312 2.96e-13 2.96 -13 -0.058 -0.079 EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 3829.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HGS Forced vital capacity FVC (3062) EFO_0004312 7.84e-13 7.84 -13 -0.08 -0.11 EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 1893.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HGS Forced vital capacity FVC (3062) EFO_0004312 7.84e-13 7.84 -13 -0.08 -0.11 EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 1893.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FERMT3 High light scatter reticulocyte count (30300) EFO_0007986 7.45e-13 7.45 -13 -0.05 -0.069 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 9731.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC4A1 High light scatter reticulocyte count (30300) EFO_0007986 7.09e-25 7.09 -25 2.272 1.909 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 25.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON SPTA1 High light scatter reticulocyte count (30300) EFO_0007986 5.36e-31 5.36 -31 0.66 0.564 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 365.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB High light scatter reticulocyte count (30300) EFO_0007986 1.4700000000000002e-31 1.47 -31 1.291 1.106 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 96.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SH2B3 High light scatter reticulocyte count (30300) EFO_0007986 4.3099999999999995e-23 4.31 -23 0.182 0.152 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 3655.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB High light scatter reticulocyte count (30300) EFO_0007986 2.49e-15 2.49 -15 0.954 0.765 SAS HANCESTRO_0006 UK Biobank 450k 9690 9690 99.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB High light scatter reticulocyte count (30300) EFO_0007986 1.4700000000000002e-31 1.47 -31 1.291 1.106 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 96.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB High light scatter reticulocyte count (30300) EFO_0007986 2.49e-15 2.49 -15 0.954 0.765 SAS HANCESTRO_0006 UK Biobank 450k 9690 9690 99.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKLR High light scatter reticulocyte count (30300) EFO_0007986 4.33e-19 4.33 -19 0.335 0.275 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 916.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Forced vital capacity FVC (3062) EFO_0004312 7.74e-13 7.74 -13 -0.055 -0.075 EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 4124.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Forced vital capacity FVC (3062) EFO_0004312 7.74e-13 7.74 -13 -0.055 -0.075 EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 4124.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON IQGAP2 High light scatter reticulocyte count (30300) EFO_0007986 2.56e-14 2.56 -14 0.238 0.189 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1400.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB High light scatter reticulocyte count (30300) EFO_0007986 2.49e-15 2.49 -15 0.954 0.765 SAS HANCESTRO_0006 UK Biobank 450k 9690 9690 99.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Forced vital capacity FVC (3062) EFO_0004312 4.96e-19 4.96 -19 0.092 0.076 EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 6256.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB High light scatter reticulocyte count (30300) EFO_0007986 1.4700000000000002e-31 1.47 -31 1.291 1.106 EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 96.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HMCN1 Forced vital capacity FVC (3062) EFO_0004312 1.12e-11 1.12 -11 0.042 0.032 EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 20670.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NF1 Non cancer illness code self reported - other neurological problem EFO_0000618 1.1e-36 1.1 -36 28.641 48.164 EUR HANCESTRO_0005 UK Biobank 450k GCST90077842 331754 1794 35.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON NF1 Non cancer illness code self reported - other neurological problem EFO_0000618 2.41e-42 2.41 -42 47.801 83.333 EUR HANCESTRO_0005 UK Biobank 450k GCST90077842 331754 1794 34.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SIX6 Spherical power left (5085) EFO_0004731 6.2e-21 6.2 -21 -0.181 -0.228 EUR HANCESTRO_0005 UK Biobank 450k GCST90079268 107117 107117 1496.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NF1 Non cancer illness code self reported - other neurological problem EFO_0000618 1.1e-36 1.1 -36 28.641 48.164 EUR HANCESTRO_0005 UK Biobank 450k GCST90077842 331754 1794 35.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MEN1 ICD10 E21: Hyperparathyroidism and other disorders of parathyroid gland EFO_0008506 1.75e-11 1.75 -11 14.176 30.7 EUR HANCESTRO_0005 UK Biobank 450k GCST90079753 387625 1168 13.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 DD Cancer - Yes (2453) EFO_0000311 4.87e-25 4.87 -25 3.091 3.828 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 138.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MEN1 ICD10 E21: Hyperparathyroidism and other disorders of parathyroid gland EFO_0008506 8.13e-23 8.13 -23 737.503 2750.38 EUR HANCESTRO_0005 UK Biobank 450k GCST90079753 387625 1168 10.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PALB2 DD Cancer - Yes (2453) EFO_0000311 5.43e-12 5.43 -12 2.083 2.566 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 128.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 DD Cancer - Yes (2453) EFO_0000311 4.87e-25 4.87 -25 3.091 3.828 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 138.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 DD Cancer - Yes (2453) EFO_0000311 9.95e-19 9.95 -19 2.149 2.546 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 195.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CHEK2 DD Cancer - Yes (2453) EFO_0000311 4.02e-22 4.02 -22 1.774 1.993 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 387.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MEN1 ICD10 E21: Hyperparathyroidism and other disorders of parathyroid gland EFO_0008506 5.86e-14 5.86 -14 22.513 50.737 EUR HANCESTRO_0005 UK Biobank 450k GCST90079753 387625 1168 13.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 DD Cancer - Yes (2453) EFO_0000311 7.84e-18 7.84 -18 2.767 3.489 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 113.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PALB2 DD Cancer - Yes (2453) EFO_0000311 5.43e-12 5.43 -12 2.083 2.566 EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 128.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CXCR2 White blood cell leukocyte count (30000) EFO_0004308 1.99e-17 1.99 -17 -0.336 -0.437 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 335.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC45A2 Ease of skin tanning - Get very tanned (1727) EFO_0007009 6.62e-24 6.62 -24 0.301 0.38 EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 58.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CHEK2 White blood cell leukocyte count (30000) EFO_0004308 6.38e-18 6.38 -18 0.15 0.122 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 5041.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CXCR4 White blood cell leukocyte count (30000) EFO_0004308 9.080000000000001e-21 9.08 -21 0.573 0.474 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 345.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON OCA2 Ease of skin tanning - Get very tanned (1727) EFO_0007009 3.8e-197 3.8 -197 0.414 0.439 EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 1126.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 White blood cell leukocyte count (30000) EFO_0004308 5.53e-18 5.53 -18 -0.149 -0.192 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 1794.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TYRP1 Ease of skin tanning - Get very tanned (1727) EFO_0007009 1.51e-15 1.51 -15 0.796 0.842 EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 1588.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC1R Ease of skin tanning - Get very tanned (1727) EFO_0007009 9.55e-115 9.55 -115 0.404 0.437 EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 594.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TYRP1 Ease of skin tanning - Get very tanned (1727) EFO_0007009 3.79e-13 3.79 -13 0.297 0.412 EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 29.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SH2B3 White blood cell leukocyte count (30000) EFO_0004308 2.32e-16 2.32 -16 0.212 0.171 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 2047.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 White blood cell leukocyte count (30000) EFO_0004308 5.53e-18 5.53 -18 -0.149 -0.192 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 1794.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MPO White blood cell leukocyte count (30000) EFO_0004308 1.33e-19 1.33 -19 0.093 0.077 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 12724.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Leg fat mass left (23116) EFO_0005409 2.34e-13 2.34 -13 0.487 0.385 EUR HANCESTRO_0005 UK Biobank 450k GCST90078919 423640 423640 197.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TYR Ease of skin tanning - Get very tanned (1727) EFO_0007009 3.2e-15 3.2 -15 0.427 0.528 EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 84.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 White blood cell leukocyte count (30000) EFO_0004308 1.53e-14 1.53 -14 -0.138 -0.185 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 1532.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ATM White blood cell leukocyte count (30000) EFO_0004308 6.31e-12 6.31 -12 0.091 0.071 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 8517.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON S1PR4 White blood cell leukocyte count (30000) EFO_0004308 1.71e-17 1.71 -17 -0.244 -0.317 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 639.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NOTCH1 White blood cell leukocyte count (30000) EFO_0004308 1.2500000000000001e-22 1.25 -22 1.61 1.341 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 47.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC9A3R1 White blood cell leukocyte count (30000) EFO_0004308 3.84e-15 3.84 -15 0.104 0.083 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 7966.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SBNO2 White blood cell leukocyte count (30000) EFO_0004308 1.02e-14 1.02 -14 0.356 0.284 EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 658.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ZNF770 SHBG (30830) EFO_0004696 1.47e-13 1.47 -13 0.561 0.443 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 189.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SHBG SHBG (30830) EFO_0004696 2.13e-13 2.13 -13 -0.975 -1.329 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 22.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON ADAMTS17 Seated height (51) EFO_0011011 5.95e-20 5.95 -20 -0.081 -0.103 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 4115.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SHBG SHBG (30830) EFO_0004696 2.1800000000000001e-97 2.18 -97 -0.999 -1.102 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 261.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ASXL1 Smoking status - Current (20116) EFO_0006527 4.19e-12 4.19 -12 2.318 2.941 EUR HANCESTRO_0005 UK Biobank 450k GCST90078302 429255 45239 103.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Seated height (51) EFO_0011011 1.04e-13 1.04 -13 0.455 0.36 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 219.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON NPR2 Seated height (51) EFO_0011011 2.21e-16 2.21 -16 -0.123 -0.161 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 1332.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Seated height (51) EFO_0011011 1.46e-13 1.46 -13 0.528 0.418 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 161.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SHBG SHBG (30830) EFO_0004696 5.44e-12 5.44 -12 -0.686 -0.958 SAS HANCESTRO_0006 UK Biobank 450k 8933 8933 38.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Seated height (51) EFO_0011011 1.21e-22 1.21 -22 0.209 0.174 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 1622.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON FOXA3 SHBG (30830) EFO_0004696 5.96e-15 5.96 -15 0.416 0.332 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 376.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON DPP9 SHBG (30830) EFO_0004696 4.93e-13 4.93 -13 0.242 0.19 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 982.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON B4GALNT3 Seated height (51) EFO_0011011 4.9e-12 4.9 -12 0.102 0.08 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 3904.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACAN Seated height (51) EFO_0011011 1.25e-27 1.25 -27 -0.8 -0.975 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 64.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ZFAT Seated height (51) EFO_0011011 8.300000000000001e-28 8.3 -28 0.167 0.142 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 3061.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ASXL1 Smoking status - Current (20116) EFO_0006527 1.9699999999999998e-38 1.97 -38 2.757 3.215 EUR HANCESTRO_0005 UK Biobank 450k GCST90078302 429255 45239 265.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACAN Seated height (51) EFO_0011011 1.25e-27 1.25 -27 -0.8 -0.975 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 64.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON NPR2 Seated height (51) EFO_0011011 2.21e-16 2.21 -16 -0.123 -0.161 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 1332.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Seated height (51) EFO_0011011 1.2099999999999998e-52 1.21 -52 0.15 0.133 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 6819.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Seated height (51) EFO_0011011 2.64e-25 2.64 -25 -0.561 -0.691 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 116.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZNF770 SHBG (30830) EFO_0004696 1.47e-13 1.47 -13 0.561 0.443 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 189.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NR1H4 SHBG (30830) EFO_0004696 2.7599999999999998e-89 2.76 -89 -0.202 -0.224 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 5493.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Seated height (51) EFO_0011011 8.32e-13 8.32 -13 0.403 0.316 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 263.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TMEM102 SHBG (30830) EFO_0004696 1.08e-66 1.08 -66 -0.157 -0.177 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 6846.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PLA2G12A SHBG (30830) EFO_0004696 2.7e-50 2.7 -50 0.162 0.144 EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 7413.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CRISPLD1 Seated height (51) EFO_0011011 2.21e-12 2.21 -12 -0.11 -0.152 EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 1085.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Hand grip strength right (47) EFO_0006941 9.69e-13 9.69 -13 -0.045 -0.062 EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 5940.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON KDM5B Hand grip strength right (47) EFO_0006941 2.45e-15 2.45 -15 -0.25 -0.332 EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 256.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Hand grip strength right (47) EFO_0006941 1.1e-16 1.1 -16 -0.064 -0.083 EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 4480.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PAM Hand grip strength right (47) EFO_0006941 2.52e-13 2.52 -13 -0.034 -0.046 EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 11445.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Hand grip strength right (47) EFO_0006941 1.34e-15 1.34 -15 -0.078 -0.104 EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 2692.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON KDM5B Hand grip strength right (47) EFO_0006941 2.45e-15 2.45 -15 -0.25 -0.332 EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 256.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Impedance of whole body (23106) HP_0000924 5.87e-14 5.87 -14 0.213 0.169 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 986.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON G6PC C reactive protein (30710) EFO_0004458 1.23e-17 1.23 -17 0.256 0.208 EUR HANCESTRO_0005 UK Biobank 450k GCST90079026 411229 411229 1445.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GHRH Trunk predicted mass (23130) EFO_0004324 2.03e-15 2.03 -15 -0.281 -0.373 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 143.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PAPPA2 Trunk predicted mass (23130) EFO_0004324 2.5e-13 2.5 -13 -0.179 -0.245 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 285.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Trunk predicted mass (23130) EFO_0004324 5.2400000000000005e-33 5.24 -33 0.333 0.286 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 554.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON COL8A2 Impedance of whole body (23106) HP_0000924 8.7e-17 8.7 -17 0.405 0.328 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 322.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON UBR2 Leg fat mass right (23112) EFO_0005409 7.99e-12 7.99 -12 0.553 0.43 EUR HANCESTRO_0005 UK Biobank 450k GCST90078915 423659 423659 141.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Leg fat mass right (23112) EFO_0005409 8.989999999999999e-28 8.99 -28 0.314 0.266 EUR HANCESTRO_0005 UK Biobank 450k GCST90078915 423659 423659 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Impedance of whole body (23106) HP_0000924 3.51e-24 3.51 -24 -0.166 -0.206 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 1201.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Leg fat mass right (23112) EFO_0005409 6.79e-14 6.79 -14 0.502 0.398 EUR HANCESTRO_0005 UK Biobank 450k GCST90078915 423659 423659 197.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Trunk predicted mass (23130) EFO_0004324 2.14e-22 2.14 -22 -0.551 -0.689 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 63.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PAPPA2 Trunk predicted mass (23130) EFO_0004324 2.5e-13 2.5 -13 -0.179 -0.245 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 285.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGF1R Trunk predicted mass (23130) EFO_0004324 2.22e-19 2.22 -19 -0.291 -0.372 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 185.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON PAPPA2 Trunk predicted mass (23130) EFO_0004324 3.19e-14 3.19 -14 -0.071 -0.096 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 2007.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CRP C reactive protein (30710) EFO_0004458 3.36e-34 3.36 -34 -0.552 -0.658 EUR HANCESTRO_0005 UK Biobank 450k GCST90079026 411229 411229 306.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Trunk predicted mass (23130) EFO_0004324 6.69e-15 6.69 -15 0.421 0.336 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 170.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CYR61 Impedance of whole body (23106) HP_0000924 7.93e-15 7.93 -15 0.079 0.063 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 7640.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CRP C reactive protein (30710) EFO_0004458 1.65e-39 1.65 -39 -0.588 -0.691 EUR HANCESTRO_0005 UK Biobank 450k GCST90079026 411229 411229 323.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Trunk predicted mass (23130) EFO_0004324 2.98e-16 2.98 -16 0.356 0.287 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 257.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UBR2 Leg fat mass right (23112) EFO_0005409 7.99e-12 7.99 -12 0.553 0.43 EUR HANCESTRO_0005 UK Biobank 450k GCST90078915 423659 423659 141.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Leg fat mass right (23112) EFO_0005409 6.79e-14 6.79 -14 0.502 0.398 EUR HANCESTRO_0005 UK Biobank 450k GCST90078915 423659 423659 197.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PIEZO1 Trunk predicted mass (23130) EFO_0004324 1.88e-19 1.88 -19 -0.026 -0.033 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 24572.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 6mm strong meridian left (5134) EFO_0004731 3.64e-18 3.64 -18 0.508 0.415 EUR HANCESTRO_0005 UK Biobank 450k GCST90079300 89735 89735 349.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Trunk predicted mass (23130) EFO_0004324 1.07e-14 1.07 -14 0.374 0.298 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 213.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GHRH Trunk predicted mass (23130) EFO_0004324 2.03e-15 2.03 -15 -0.281 -0.373 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 143.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Trunk predicted mass (23130) EFO_0004324 2.98e-16 2.98 -16 0.356 0.287 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 257.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Impedance of whole body (23106) HP_0000924 3.99e-18 3.99 -18 0.099 0.081 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 5847.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGF1R Trunk predicted mass (23130) EFO_0004324 4.43e-19 4.43 -19 -0.164 -0.211 EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 568.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ADAMTS17 Impedance of whole body (23106) HP_0000924 4.03e-18 4.03 -18 -0.096 -0.123 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 2462.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANGPTL7 6mm strong meridian left (5134) EFO_0004731 3.06e-17 3.06 -17 0.231 0.188 EUR HANCESTRO_0005 UK Biobank 450k GCST90079300 89735 89735 1623.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 6mm strong meridian left (5134) EFO_0004731 8.79e-19 8.79 -19 0.987 0.808 EUR HANCESTRO_0005 UK Biobank 450k GCST90079300 89735 89735 95.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 6mm strong meridian left (5134) EFO_0004731 3.64e-18 3.64 -18 0.508 0.415 EUR HANCESTRO_0005 UK Biobank 450k GCST90079300 89735 89735 349.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADAMTS17 Impedance of whole body (23106) HP_0000924 5.98e-13 5.98 -13 -0.186 -0.255 EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 394.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON OCA2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 2.74e-13 2.74 -13 2.441 3.101 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 123.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ACSF3 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 1.88e-25 1.88 -25 1.329 1.403 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 1968.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TYR Ease of skin tanning - Never tan only burn (1727) EFO_0007009 6.88e-28 6.88 -28 2.003 2.268 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 426.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ERCC4 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 5.67e-31 5.67 -31 1.318 1.381 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 2580.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON DGKD Calcium (30680) EFO_0004838 3.1e-16 3.1 -16 -0.501 -0.659 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 140.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON DGKD Calcium (30680) EFO_0004838 3.1e-16 3.1 -16 -0.501 -0.659 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 140.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC45A2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 1.8e-27 1.8 -27 2.488 2.932 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 271.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON KDM5B Duration to first press of snap button in each round (404) EFO_0008354 2.97e-13 2.97 -13 0.544 0.429 EUR HANCESTRO_0005 UK Biobank 450k GCST90079143 428085 428085 242.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC45A2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 3.43e-85 3.43 -85 2.33 2.536 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 989.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SPATA33 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 7.550000000000001e-21 7.55 -21 0.66 0.72 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 547.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 Z92.6: Personal history of chemotherapy for neoplastic disease EFO_0000352 6.75e-13 6.75 -13 4.935 7.629 EUR HANCESTRO_0005 UK Biobank 450k GCST90081409 387930 4641 33.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TYR Ease of skin tanning - Never tan only burn (1727) EFO_0007009 7.75e-26 7.75 -26 1.386 1.473 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 1601.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CASR Calcium (30680) EFO_0004838 6.41e-32 6.41 -32 1.266 1.085 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 108.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON TYR Ease of skin tanning - Never tan only burn (1727) EFO_0007009 1.75e-22 1.75 -22 2.338 2.773 EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 238.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CASR Calcium (30680) EFO_0004838 1.45e-32 1.45 -32 2.048 1.758 EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 42.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ALPL Alkaline phosphatase (30610) EFO_0004533 1.14e-13 1.14 -13 -1.393 -1.892 SAS HANCESTRO_0006 UK Biobank 450k 9849 9849 13.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 5.83e-19 5.83 -19 1.651 1.843 EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 406.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GPLD1 Alkaline phosphatase (30610) EFO_0004533 1.09e-17 1.09 -17 -0.44 -0.57 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 177.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 ICD10 C50: Malignant neoplasm of breast EFO_0003869 1.21e-12 1.21 -12 3.881 5.642 EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 46.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 3.22e-26 3.22 -26 2.016 2.295 EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 315.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PALB2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 2.6600000000000002e-21 2.66 -21 4.095 5.481 EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 77.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GPLD1 Alkaline phosphatase (30610) EFO_0004533 5.26e-17 5.26 -17 -0.6 -0.783 SAS HANCESTRO_0006 UK Biobank 450k 9849 9849 98.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ALPL Alkaline phosphatase (30610) EFO_0004533 1.14e-13 1.14 -13 -1.393 -1.892 SAS HANCESTRO_0006 UK Biobank 450k 9849 9849 13.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ALPL Alkaline phosphatase (30610) EFO_0004533 1.14e-13 1.14 -13 -1.393 -1.892 SAS HANCESTRO_0006 UK Biobank 450k 9849 9849 13.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON EDEM1 Alkaline phosphatase (30610) EFO_0004533 1.99e-24 1.99 -24 0.369 0.31 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 837.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADH1C Alkaline phosphatase (30610) EFO_0004533 8.3e-13 8.3 -13 -0.052 -0.072 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 7707.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC39A5 Alkaline phosphatase (30610) EFO_0004533 6.96e-19 6.96 -19 0.209 0.171 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 2095.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 1.8800000000000002e-59 1.88 -59 5.332 6.524 EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 175.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PALB2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 1.23e-14 1.23 -14 1.929 2.28 EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 187.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC39A5 Alkaline phosphatase (30610) EFO_0004533 6.96e-19 6.96 -19 0.209 0.171 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 2095.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 Alkaline phosphatase (30610) EFO_0004533 2.12e-11 2.12 -11 -0.043 -0.06 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 9764.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ALPL Alkaline phosphatase (30610) EFO_0004533 1.13e-12 1.13 -12 -1.349 -1.862 AFR HANCESTRO_0010 UK Biobank 450k 8544 8544 14.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EDEM1 Alkaline phosphatase (30610) EFO_0004533 7.600000000000001e-28 7.6 -28 0.36 0.306 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 990.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PALB2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 3.46e-15 3.46 -15 2.354 2.914 EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 122.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON B4GALNT3 Alkaline phosphatase (30610) EFO_0004533 4.77e-39 4.77 -39 0.217 0.189 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 3739.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ALPL Alkaline phosphatase (30610) EFO_0004533 3.09e-13 3.09 -13 -1.507 -2.061 AFR HANCESTRO_0010 UK Biobank 450k 8544 8544 12.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ASGR1 Alkaline phosphatase (30610) EFO_0004533 4.94e-65 4.94 -65 1.082 0.971 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 240.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ATM ICD10 C50: Malignant neoplasm of breast EFO_0003869 2.61e-16 2.61 -16 2.759 3.518 EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 99.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SYNJ2 Alkaline phosphatase (30610) EFO_0004533 1.19e-13 1.19 -13 -0.038 -0.051 EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 17118.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PDE3B Hip circumference (49) EFO_0005093 5.7600000000000004e-21 5.76 -21 0.234 0.193 EUR HANCESTRO_0005 UK Biobank 450k GCST90079253 430214 430214 2096.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACVRL1 ICD10 I78: Diseases of capillaries EFO_0004264 1.03e-15 1.03 -15 25.576 56.458 EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 14.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACVRL1 ICD10 I78: Diseases of capillaries EFO_0004264 1.93e-15 1.93 -15 690.568 3463.6 EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 6.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON ENG ICD10 I78: Diseases of capillaries EFO_0004264 3.02e-15 3.02 -15 130.613 438.133 EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 8.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON PDE3B Hip circumference (49) EFO_0005093 4.1e-16 4.1 -16 0.273 0.22 EUR HANCESTRO_0005 UK Biobank 450k GCST90079253 430214 430214 1213.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Hip circumference (49) EFO_0005093 1.66e-20 1.66 -20 0.302 0.249 EUR HANCESTRO_0005 UK Biobank 450k GCST90079253 430214 430214 1224.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RHAG Reticulocyte percentage (30240) EFO_0010700 4.46e-49 4.46 -49 0.741 0.654 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 451.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC4A1 Reticulocyte percentage (30240) EFO_0010700 7.72e-43 7.72 -43 2.397 2.098 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 38.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 4.33e-21 4.33 -21 5.147 7.237 EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 54.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC4A1 Reticulocyte percentage (30240) EFO_0010700 2.64e-27 2.64 -27 1.339 1.134 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 81.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 Reticulocyte percentage (30240) EFO_0010700 1.44e-25 1.44 -25 0.279 0.235 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1754.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MLH1 ICD10 C18.0: Malignant neoplasm of cecum MONDO_0002033 1.32e-11 1.32 -11 72.31 249.868 EUR HANCESTRO_0005 UK Biobank 450k GCST90079577 387929 774 7.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 3mm strong meridian left (5135) EFO_0004731 7.2e-18 7.2 -18 0.908 0.74 EUR HANCESTRO_0005 UK Biobank 450k GCST90079301 103531 103531 109.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 Reticulocyte percentage (30240) EFO_0010700 2.4e-25 2.4 -25 0.277 0.233 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1767.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 4.32e-15 4.32 -15 11.598 21.393 EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 20.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC4A1 Reticulocyte percentage (30240) EFO_0010700 3.9299999999999995e-23 3.93 -23 0.59 0.493 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 359.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA1 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 3.2e-26 3.2 -26 8.874 13.291 EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 44.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC4A1 Reticulocyte percentage (30240) EFO_0010700 8.08e-14 8.08 -14 0.264 0.209 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1140.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 3mm strong meridian left (5135) EFO_0004731 7.2e-18 7.2 -18 0.908 0.74 EUR HANCESTRO_0005 UK Biobank 450k GCST90079301 103531 103531 109.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 1.44e-13 1.44 -13 3.103 4.19 EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 61.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD1 ICD10 D63.165.8: Anemia in chronic kidney disease EFO_0004272 1.6e-12 1.6 -12 20.426 47.166 EUR HANCESTRO_0005 UK Biobank 450k GCST90079710 387885 936 12.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON JAK2 Reticulocyte percentage (30240) EFO_0010700 4.34e-12 4.34 -12 0.18 0.141 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 2137.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RHAG Reticulocyte percentage (30240) EFO_0010700 2.34e-48 2.34 -48 1.094 0.964 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 204.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 1.27e-11 1.27 -11 20.789 50.027 EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 11.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON CA1 Reticulocyte percentage (30240) EFO_0010700 5.68e-12 5.68 -12 0.346 0.269 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 582.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CA1 Reticulocyte percentage (30240) EFO_0010700 5.68e-12 5.68 -12 0.346 0.269 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 582.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON JAK2 Reticulocyte percentage (30240) EFO_0010700 4.34e-12 4.34 -12 0.18 0.141 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 2137.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MFSD2B Reticulocyte percentage (30240) EFO_0010700 2.51e-23 2.51 -23 -0.105 -0.131 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 5757.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SPTA1 Reticulocyte percentage (30240) EFO_0010700 1.83e-45 1.83 -45 0.882 0.775 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 299.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON EPB41 Reticulocyte percentage (30240) EFO_0010700 2.52e-20 2.52 -20 0.98 0.808 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 117.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON RHAG Reticulocyte percentage (30240) EFO_0010700 2.34e-48 2.34 -48 1.094 0.964 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 204.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC4A1 Reticulocyte percentage (30240) EFO_0010700 2.64e-27 2.64 -27 1.339 1.134 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 81.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC4A1 Reticulocyte percentage (30240) EFO_0010700 1.23e-18 1.23 -18 1.005 0.822 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 102.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON MLH1 ICD10 C18.0: Malignant neoplasm of cecum MONDO_0002033 1e-11 10.0 -12 75.885 263.978 EUR HANCESTRO_0005 UK Biobank 450k GCST90079577 387929 774 7.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SPTA1 Reticulocyte percentage (30240) EFO_0010700 2.9700000000000002e-58 2.97 -58 0.894 0.797 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 365.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 1.91e-11 1.91 -11 6.158 10.47 EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 23.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SPTB Reticulocyte percentage (30240) EFO_0010700 1.02e-15 1.02 -15 1.062 0.854 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 78.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SMAD6 3mm strong meridian left (5135) EFO_0004731 1.04e-17 1.04 -17 0.483 0.393 EUR HANCESTRO_0005 UK Biobank 450k GCST90079301 103531 103531 384.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CYB561D2 Reticulocyte percentage (30240) EFO_0010700 9.57e-13 9.57 -13 0.137 0.108 EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 3894.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MLH1 Type of Cancer: Malignant neoplasm of colon (40006) EFO_1001950 2.53e-12 2.53 -12 44.75 129.689 EUR HANCESTRO_0005 UK Biobank 450k GCST90079082 74230 3309 11.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON WNT1 Heel bone mineral density BMD T score automated right (4125) EFO_0009270 7.51e-13 7.51 -13 -0.357 -0.491 EUR HANCESTRO_0005 UK Biobank 450k GCST90079159 166358 166358 164.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADAMTS3 Impedance of leg right (23107) HP_0000924 9.11e-40 9.11 -40 -0.128 -0.15 EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 5509.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS3 Impedance of leg right (23107) HP_0000924 8.39e-22 8.39 -22 -0.137 -0.173 EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 2184.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADAMTS17 Impedance of leg right (23107) HP_0000924 1.57e-13 1.57 -13 -0.072 -0.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 4065.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Impedance of leg right (23107) HP_0000924 4.68e-13 4.68 -13 -0.315 -0.431 EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 197.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R Impedance of leg right (23107) HP_0000924 2.93e-12 2.93 -12 0.551 0.43 EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 185.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON CYR61 Impedance of leg right (23107) HP_0000924 1.04e-14 1.04 -14 0.093 0.075 EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 7640.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Impedance of leg right (23107) HP_0000924 6.69e-12 6.69 -12 0.098 0.076 EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 5849.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Impedance of leg right (23107) HP_0000924 3.3899999999999996e-24 3.39 -24 -0.198 -0.245 EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ADAMTS3 Impedance of leg right (23107) HP_0000924 7.98e-17 7.98 -17 -0.216 -0.282 EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 614.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ADAMTS17 Impedance of leg right (23107) HP_0000924 1.57e-13 1.57 -13 -0.072 -0.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 4065.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PFKM Haematocrit percentage (30030) EFO_0004348 4.83e-21 4.83 -21 0.207 0.171 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1808.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EGLN1 Haematocrit percentage (30030) EFO_0004348 1.03e-14 1.03 -14 0.812 0.648 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 85.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Haematocrit percentage (30030) EFO_0004348 2.71e-55 2.71 -55 -1.068 -1.221 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 98.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Haematocrit percentage (30030) EFO_0004348 1.48e-13 1.48 -13 -0.96 -1.307 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 19.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PFKM Haematocrit percentage (30030) EFO_0004348 1.88e-20 1.88 -20 0.221 0.182 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1539.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON FLCN ICD10 J93: Pneumothorax and air leak MONDO_0002076 4.53e-17 4.53 -17 10.892 19.016 EUR HANCESTRO_0005 UK Biobank 450k GCST90080153 387375 1190 24.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SF3B1 Haematocrit percentage (30030) EFO_0004348 7.16e-13 7.16 -13 -0.203 -0.28 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 394.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TMPRSS6 Haematocrit percentage (30030) EFO_0004348 6.33e-13 6.33 -13 -0.212 -0.292 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 361.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKLR Haematocrit percentage (30030) EFO_0004348 1.0600000000000001e-21 1.06 -21 -0.078 -0.098 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 5721.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON EGLN2 Haematocrit percentage (30030) EFO_0004348 1.66e-17 1.66 -17 0.247 0.201 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1072.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TMPRSS6 Haematocrit percentage (30030) EFO_0004348 1.59e-19 1.59 -19 -0.128 -0.164 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1822.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Haematocrit percentage (30030) EFO_0004348 2.71e-55 2.71 -55 -1.068 -1.221 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 98.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON EGLN1 Haematocrit percentage (30030) EFO_0004348 1.03e-14 1.03 -14 0.812 0.648 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 85.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TFR2 Haematocrit percentage (30030) EFO_0004348 2.02e-11 2.02 -11 0.115 0.089 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 3379.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Haematocrit percentage (30030) EFO_0004348 2.71e-55 2.71 -55 -1.068 -1.221 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 98.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON EGLN2 Haematocrit percentage (30030) EFO_0004348 1.66e-17 1.66 -17 0.247 0.201 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1072.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR Blood pressure medication (6177) EFO_0007010 2.58e-17 2.58 -17 0.176 0.263 EUR HANCESTRO_0005 UK Biobank 450k GCST90079487 69473 51432 36.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TET2 Haematocrit percentage (30030) EFO_0004348 7.12e-15 7.12 -15 -0.106 -0.142 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1794.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CALR Haematocrit percentage (30030) EFO_0004348 1.88e-13 1.88 -13 -0.494 -0.673 EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 71.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON WNT1 Heel bone mineral density BMD T score automated (78) EFO_0009270 4.26e-15 4.26 -15 -0.338 -0.451 EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 236.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LRP5 Heel bone mineral density BMD T score automated (78) EFO_0009270 9.82e-14 9.82 -14 -0.443 -0.601 EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 120.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LRP5 Heel bone mineral density BMD T score automated (78) EFO_0009270 9.82e-14 9.82 -14 -0.443 -0.601 EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 120.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MEPE Heel bone mineral density BMD T score automated (78) EFO_0009270 5.44e-38 5.44 -38 -0.307 -0.362 EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 985.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MEPE Heel bone mineral density BMD T score automated (78) EFO_0009270 9.15e-15 9.15 -15 -0.24 -0.321 EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 453.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GIGYF1 LDL direct (30780) EFO_0004611 1.98e-16 1.98 -16 -0.47 -0.616 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 153.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ALB LDL direct (30780) EFO_0004611 3.28e-14 3.28 -14 0.73 0.58 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 147.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON RRBP1 LDL direct (30780) EFO_0004611 8.79e-12 8.79 -12 -0.465 -0.653 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 94.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON GIGYF1 LDL direct (30780) EFO_0004611 1.98e-16 1.98 -16 -0.47 -0.616 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 153.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR LDL direct (30780) EFO_0004611 8.28e-76 8.28 -76 0.46 0.415 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 1784.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PCSK9 LDL direct (30780) EFO_0004611 3.23e-44 3.23 -44 -0.644 -0.75 AFR HANCESTRO_0010 UK Biobank 450k 8527 8527 319.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APOB LDL direct (30780) EFO_0004611 2.23e-22 2.23 -22 -0.089 -0.112 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 6773.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RRBP1 LDL direct (30780) EFO_0004611 2.57e-18 2.57 -18 -0.422 -0.545 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 221.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APOB LDL direct (30780) EFO_0004611 2.94e-118 2.94 -118 -0.612 -0.669 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 1039.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LDLR Treatment or Medication Code - ezetimibe EFO_0007010 1.99e-52 1.99 -52 8.561 11.284 EUR HANCESTRO_0005 UK Biobank 450k GCST90078226 320758 2675 96.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR Treatment or Medication Code - ezetimibe EFO_0007010 2.5799999999999997e-38 2.58 -38 19.157 29.959 EUR HANCESTRO_0005 UK Biobank 450k GCST90078226 320758 2675 44.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PCSK9 LDL direct (30780) EFO_0004611 1.15e-45 1.15 -45 -0.668 -0.775 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 291.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON NPC1L1 LDL direct (30780) EFO_0004611 8.690000000000001e-21 8.69 -21 -0.112 -0.142 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 3787.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB LDL direct (30780) EFO_0004611 3.72e-80 3.72 -80 -0.244 -0.273 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 4348.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RRBP1 LDL direct (30780) EFO_0004611 2.04e-16 2.04 -16 -0.376 -0.493 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 239.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GIGYF1 LDL direct (30780) EFO_0004611 1.25e-11 1.25 -11 -0.422 -0.594 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 112.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON APOB LDL direct (30780) EFO_0004611 1.96e-91 1.96 -91 -1.627 -1.801 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 110.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON LDLR LDL direct (30780) EFO_0004611 1.91e-40 1.91 -40 0.742 0.647 EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 383.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON FLG Vitamin D (30890) EFO_0004631 7.74e-40 7.74 -40 0.129 0.113 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 12731.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MSH6 Type of Cancer: Malignant neoplasm of corpus uteri (40006) EFO_0007532 7.34e-17 7.34 -17 4.186 5.86 EUR HANCESTRO_0005 UK Biobank 450k GCST90079110 41005 1612 58.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 1.9599999999999997e-30 1.96 -30 14.15 22.257 EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 40.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HAL Vitamin D (30890) EFO_0004631 3.73e-43 3.73 -43 0.132 0.116 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 13151.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NF1 Non cancer illness code self reported - other neurological problem/ICD10 G98 EFO_0000618 5.05e-38 5.05 -38 31.477 53.18 EUR HANCESTRO_0005 UK Biobank 450k GCST90077843 329052 1701 35.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB Vitamin D (30890) EFO_0004631 1.91e-12 1.91 -12 0.108 0.085 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 6427.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HAL Vitamin D (30890) EFO_0004631 2.79e-16 2.79 -16 0.144 0.116 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 4546.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON DHCR7 Vitamin D (30890) EFO_0004631 4.17e-19 4.17 -19 0.177 0.145 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 3484.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NF1 Non cancer illness code self reported - other neurological problem/ICD10 G98 EFO_0000618 5.05e-38 5.05 -38 31.477 53.18 EUR HANCESTRO_0005 UK Biobank 450k GCST90077843 329052 1701 35.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON NF1 Non cancer illness code self reported - other neurological problem/ICD10 G98 EFO_0000618 2.38e-25 2.38 -25 17.178 29.352 EUR HANCESTRO_0005 UK Biobank 450k GCST90077843 329052 1701 29.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON CYP2R1 Vitamin D (30890) EFO_0004631 5.6e-15 5.6 -15 -0.365 -0.488 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 234.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MSH6 Type of Cancer: Malignant neoplasm of corpus uteri (40006) EFO_0007532 1.81e-15 1.81 -15 5.815 8.972 EUR HANCESTRO_0005 UK Biobank 450k GCST90079110 41005 1612 38.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON FLG Vitamin D (30890) EFO_0004631 3.3e-21 3.3 -21 0.139 0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 6130.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PRPH2 ICD10 H35: Other retinal disorders EFO_0003839 8.85e-12 8.85 -12 7.675 13.782 EUR HANCESTRO_0005 UK Biobank 450k GCST90079902 384428 5808 21.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON APOB Vitamin D (30890) EFO_0004631 3.39e-14 3.39 -14 0.284 0.226 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 1017.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON BRCA2 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 1.79e-32 1.79 -32 4.067 5.128 EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 112.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 3.01e-17 3.01 -17 16.134 30.761 EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 20.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LDLR ICD10 I20: Angina pectoris EFO_0003913 4.51e-16 4.51 -16 2.069 2.466 EUR HANCESTRO_0005 UK Biobank 450k GCST90079968 386565 22332 178.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON DHCR7 Vitamin D (30890) EFO_0004631 1.88e-11 1.88 -11 0.222 0.172 EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 1400.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TECTA hearing loss (RGC) EFO_0004238 1.07e-16 1.07 -16 1.352 1.452 EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 1400.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON KLHDC7B hearing loss (RGC) EFO_0004238 8.729999999999999e-28 8.73 -28 2.156 2.474 EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 451.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MYO6 hearing loss (RGC) EFO_0004238 6.06e-17 6.06 -17 1.555 1.725 EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 699.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TECTA hearing loss (RGC) EFO_0004238 9.33e-14 9.33 -14 1.947 2.319 EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 271.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MYO6 hearing loss (RGC) EFO_0004238 6.32e-15 6.32 -15 1.455 1.598 EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 821.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GJB2 hearing loss (RGC) EFO_0004238 8.71e-15 8.71 -15 1.243 1.313 EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 2266.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FSCN2 hearing loss (RGC) EFO_0004238 5.25e-13 5.25 -13 1.209 1.273 EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 2584.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON THBS4 6mm weak meridian left (5097) EFO_0004731 1.6200000000000002e-21 1.62 -21 -0.245 -0.308 EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 772.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA2 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 8.25e-13 8.25 -13 2.032 2.467 EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 131.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 1.21e-34 1.21 -34 7.552 10.428 EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 69.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CYP1A2 Tea intake (1488) EFO_0010091 7.59e-13 7.59 -13 -0.12 -0.166 EUR HANCESTRO_0005 UK Biobank 450k GCST90077587 417958 417958 1692.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 2.5599999999999998e-23 2.56 -23 5.967 8.484 EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 54.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 9.19e-26 9.19 -26 6.965 10.008 EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 53.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 3.32e-34 3.32 -34 13.448 20.421 EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 47.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 Treatment or Medication Code - prednisolone EFO_0007010 2.88e-15 2.88 -15 12.131 22.54 EUR HANCESTRO_0005 UK Biobank 450k GCST90078076 320758 2671 20.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON WNT1 Heel bone mineral density BMD (3148) EFO_0009270 8.3e-15 8.3 -15 -0.34 -0.455 EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 226.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SHBG Heel bone mineral density BMD (3148) EFO_0009270 1.56e-12 1.56 -12 0.126 0.099 EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 4040.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FCGRT Albumin (30600) EFO_0004535 2.67e-35 2.67 -35 -1.598 -1.898 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 38.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MEPE Heel bone mineral density BMD (3148) EFO_0009270 2.97e-12 2.97 -12 -0.184 -0.256 EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 576.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LRP5 Heel bone mineral density BMD (3148) EFO_0009270 6.71e-14 6.71 -14 -0.447 -0.605 EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 120.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON HPN Albumin (30600) EFO_0004535 1.88e-11 1.88 -11 -0.456 -0.644 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 97.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON FCGRT Albumin (30600) EFO_0004535 8.809999999999999e-38 8.81 -38 -1.194 -1.41 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 74.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TBC1D2B Albumin (30600) EFO_0004535 1.35e-14 1.35 -14 -0.483 -0.648 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 125.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON INSC Heel bone mineral density BMD (3148) EFO_0009270 2.89e-15 2.89 -15 0.101 0.081 EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 7647.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LRP5 Heel bone mineral density BMD (3148) EFO_0009270 6.71e-14 6.71 -14 -0.447 -0.605 EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 120.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON FCGRT Albumin (30600) EFO_0004535 2.66e-14 2.66 -14 -1.089 -1.467 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 24.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON ALB Albumin (30600) EFO_0004535 1.0300000000000001e-103 1.03 -103 -1.027 -1.129 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 325.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON WNT1 Heel bone mineral density BMD (3148) EFO_0009270 3.58e-14 3.58 -14 -0.323 -0.436 EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 235.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FCGRT Albumin (30600) EFO_0004535 2.67e-35 2.67 -35 -1.598 -1.898 EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 38.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LRP5 Heel bone mineral density BMD (3148) EFO_0009270 6.71e-14 6.71 -14 -0.447 -0.605 EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 120.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGFALS Leg fat free mass left (23117) EFO_0004995 2.81e-13 2.81 -13 -0.071 -0.097 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 1957.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Leg fat free mass left (23117) EFO_0004995 1.4e-12 1.4 -12 0.425 0.333 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 157.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PDE3B Leg fat free mass left (23117) EFO_0004995 5.18e-14 5.18 -14 0.123 0.098 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 2067.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Leg fat free mass left (23117) EFO_0004995 2.88e-31 2.88 -31 0.261 0.224 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Leg fat free mass left (23117) EFO_0004995 1.74e-19 1.74 -19 -0.174 -0.223 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 568.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON IRS1 Leg fat free mass left (23117) EFO_0004995 7.07e-17 7.07 -17 -0.318 -0.416 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 140.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SCUBE3 Leg fat free mass left (23117) EFO_0004995 8.28e-13 8.28 -13 -0.088 -0.121 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 1216.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON IGF1R Leg fat free mass left (23117) EFO_0004995 6.83e-13 6.83 -13 -0.08 -0.11 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 1485.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PAPPA2 Leg fat free mass left (23117) EFO_0004995 1.68e-11 1.68 -11 -0.063 -0.089 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 2008.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Leg fat free mass left (23117) EFO_0004995 1.58e-13 1.58 -13 -0.297 -0.404 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 115.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Leg fat free mass left (23117) EFO_0004995 4.59e-15 4.59 -15 -0.053 -0.07 EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 4403.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON HBB High light scatter reticulocyte percentage (30290) EFO_0010700 5.38e-13 5.38 -13 0.876 0.689 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 96.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MAP3K15 Glucose (30740) EFO_0004468 1.23e-18 1.23 -18 -0.081 -0.104 EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 3565.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CALR High light scatter reticulocyte percentage (30290) EFO_0010700 2.82e-15 2.82 -15 1.112 0.891 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 69.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON EPB41 High light scatter reticulocyte percentage (30290) EFO_0010700 2.44e-14 2.44 -14 0.675 0.537 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 178.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GCK Glucose (30740) EFO_0004468 1.1999999999999999e-46 1.2 -46 0.795 0.7 EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 390.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IFRD2 High light scatter reticulocyte percentage (30290) EFO_0010700 1.4e-11 1.4 -11 0.512 0.397 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 254.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKLR High light scatter reticulocyte percentage (30290) EFO_0010700 7.87e-50 7.87 -50 0.212 0.187 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 5623.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON OCA2 Use of sun uv protection - Always (2267) EFO_0010729 6.03e-20 6.03 -20 1.234 1.292 EUR HANCESTRO_0005 UK Biobank 450k GCST90078882 430409 96475 2813.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CALR Immature reticulocyte fraction (30280) EFO_0010700 5.29e-13 5.29 -13 1.055 0.83 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 69.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SPTB ICD10 D73: Diseases of spleen EFO_0009002 6.79e-17 6.79 -17 90.903 261.982 EUR HANCESTRO_0005 UK Biobank 450k GCST90079718 387896 692 10.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GCK Glucose (30740) EFO_0004468 2.3999999999999998e-43 2.4 -43 1.223 1.071 EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 154.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC4A1 High light scatter reticulocyte percentage (30290) EFO_0010700 9.28e-22 9.28 -22 1.2 0.996 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 81.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SRSF2 High light scatter reticulocyte percentage (30290) EFO_0010700 2.59e-39 2.59 -39 1.067 0.928 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 175.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC1R Use of sun uv protection - Always (2267) EFO_0010729 3.39e-18 3.39 -18 1.308 1.389 EUR HANCESTRO_0005 UK Biobank 450k GCST90078882 430409 96475 1577.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PKLR High light scatter reticulocyte percentage (30290) EFO_0010700 9.3e-12 9.3 -12 0.215 0.167 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1471.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON RIOK3 Immature reticulocyte fraction (30280) EFO_0010700 3.3e-22 3.3 -22 0.145 0.121 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 5835.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CALR Immature reticulocyte fraction (30280) EFO_0010700 5.29e-13 5.29 -13 1.055 0.83 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 69.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON HBB Immature reticulocyte fraction (30280) EFO_0010700 3.87e-16 3.87 -16 0.982 0.792 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 96.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CALR High light scatter reticulocyte percentage (30290) EFO_0010700 2.82e-15 2.82 -15 1.112 0.891 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 69.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON IQGAP2 High light scatter reticulocyte percentage (30290) EFO_0010700 3.87e-12 3.87 -12 0.223 0.174 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1400.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON BTN2A2 High light scatter reticulocyte percentage (30290) EFO_0010700 4.16e-12 4.16 -12 -0.052 -0.072 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 8175.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC4A1 High light scatter reticulocyte percentage (30290) EFO_0010700 7.55e-26 7.55 -26 2.334 1.967 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 25.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON GIGYF1 Glucose (30740) EFO_0004468 1.39e-14 1.39 -14 0.775 0.618 EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 144.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SH2B3 High light scatter reticulocyte percentage (30290) EFO_0010700 5.03e-17 5.03 -17 0.16 0.13 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 3655.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON JAK2 High light scatter reticulocyte percentage (30290) EFO_0010700 1.17e-16 1.17 -16 0.207 0.167 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 2136.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON PDE3B High light scatter reticulocyte percentage (30290) EFO_0010700 1.59e-13 1.59 -13 -0.113 -0.154 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 2011.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON FERMT3 Immature reticulocyte fraction (30280) EFO_0010700 7.77e-29 7.77 -29 -0.091 -0.111 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 9731.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RNF10 High light scatter reticulocyte percentage (30290) EFO_0010700 2.34e-12 2.34 -12 0.91 0.711 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 85.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SPHK1 Immature reticulocyte fraction (30280) EFO_0010700 9.67e-24 9.67 -24 -0.097 -0.12 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 6363.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON HBB Immature reticulocyte fraction (30280) EFO_0010700 3.87e-16 3.87 -16 0.982 0.792 EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 96.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SPTA1 High light scatter reticulocyte percentage (30290) EFO_0010700 1.0600000000000001e-35 1.06 -35 0.71 0.613 EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 365.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON OBSCN Creatinine (30700) EFO_0004518 2.6e-13 2.6 -13 0.097 0.076 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 5301.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON RNF186 Creatinine (30700) EFO_0004518 8.379999999999999e-24 8.38 -24 0.301 0.252 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 908.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON RNF186 Creatinine (30700) EFO_0004518 8.49e-12 8.49 -12 0.157 0.122 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 1798.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 Z92.1: Personal history of long-term (current) use of anticoagulants (Z92.1) EFO_0000352 2.02e-13 2.02 -13 1.692 1.946 EUR HANCESTRO_0005 UK Biobank 450k GCST90081404 387930 15024 253.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PKD2 Creatinine (30700) EFO_0004518 6.36e-12 6.36 -12 0.651 0.506 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 105.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CGNL1 Creatinine (30700) EFO_0004518 1.89e-11 1.89 -11 0.457 0.354 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 206.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON RPL3L Creatinine (30700) EFO_0004518 6.53e-13 6.53 -13 -0.033 -0.045 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 15052.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APOC3 Creatinine (30700) EFO_0004518 1.15e-11 1.15 -11 0.142 0.11 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 2163.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CLDN10 Creatinine (30700) EFO_0004518 1.44e-13 1.44 -13 0.389 0.308 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 328.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON LRP2 Creatinine (30700) EFO_0004518 1.07e-20 1.07 -20 -0.249 -0.316 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 502.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON CLDN10 Creatinine (30700) EFO_0004518 4.01e-15 4.01 -15 0.306 0.245 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 582.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON CLDN10 Creatinine (30700) EFO_0004518 4.68e-13 4.68 -13 0.689 0.542 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 101.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SLC22A7 Creatinine (30700) EFO_0004518 4.18e-35 4.18 -35 0.275 0.237 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 1556.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ALDOB Creatinine (30700) EFO_0004518 2.04e-15 2.04 -15 -0.055 -0.072 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 6916.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON RNF128 Creatinine (30700) EFO_0004518 1.91e-108 1.91 -108 0.164 0.151 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 6558.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN ICD10 Z92.1: Personal history of long-term (current) use of anticoagulants (Z92.1) EFO_0000352 4.19e-14 4.19 -14 1.95 2.319 EUR HANCESTRO_0005 UK Biobank 450k GCST90081404 387930 15024 173.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PKD2 Creatinine (30700) EFO_0004518 6.36e-12 6.36 -12 0.651 0.506 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 105.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PKD1 Creatinine (30700) EFO_0004518 3.1500000000000004e-36 3.15 -36 0.622 0.538 EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 311.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 4.0600000000000004e-32 4.06 -32 3.738 4.654 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 141.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.42e-20 1.42 -20 2.217 2.622 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 202.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MEPE Heel broadband ultrasound attenuation right (4120) EFO_0004514 5.83e-20 5.83 -20 -0.245 -0.312 EUR HANCESTRO_0005 UK Biobank 450k GCST90079155 166349 166349 653.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA1 Type of Cancer: Malignant neoplasm of ovary (40006) EFO_0003893 1.84e-11 1.84 -11 5.85 9.794 EUR HANCESTRO_0005 UK Biobank 450k GCST90079111 41005 1106 26.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MLH1 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.92e-11 1.92 -11 4.988 7.975 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 33.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON MLH1 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.07e-14 1.07 -14 23.55 52.461 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 18.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON NF1 ICD10 D36.1: Benign neoplasm of peripheral nerves and autonomic nervous system EFO_0002422 1.49e-48 1.49 -48 82.269 148.451 EUR HANCESTRO_0005 UK Biobank 450k GCST90079694 387929 616 32.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON BRCA2 Type of Cancer: Malignant neoplasm of ovary (40006) EFO_0003893 1.23e-11 1.23 -11 4.557 7.067 EUR HANCESTRO_0005 UK Biobank 450k GCST90079111 41005 1106 34.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON NF1 ICD10 D36.1: Benign neoplasm of peripheral nerves and autonomic nervous system EFO_0002422 4.88e-35 4.88 -35 134.19 292.008 EUR HANCESTRO_0005 UK Biobank 450k GCST90079694 387929 616 20.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON PALB2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 6.17e-15 6.17 -15 2.38 2.96 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 122.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ATM ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 4.22e-16 4.22 -16 2.054 2.444 EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 184.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 6.16e-16 6.16 -16 0.168 0.135 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 508.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADAMTS17 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 2.46e-15 2.46 -15 -0.201 -0.267 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 125.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LCORL Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 5.99e-15 5.99 -15 0.411 0.329 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 80.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADAMTS17 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 2.46e-15 2.46 -15 -0.201 -0.267 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 125.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON IHH Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 1.57e-12 1.57 -12 -0.265 -0.367 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 53.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON NPR2 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 2.11e-17 2.11 -17 -0.14 -0.182 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 311.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON RASA2 Lymphocyte count (30120) EFO_0004587 8.15e-15 8.15 -15 -0.214 -0.286 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 649.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ADAMTS17 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 2.29e-14 2.29 -14 -0.059 -0.079 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 1336.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SPHK1 Lymphocyte count (30120) EFO_0004587 3.76e-13 3.76 -13 0.293 0.231 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 868.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GIGYF1 Townsend deprivation index at recruitment (189) EFO_0009711 5.13e-13 5.13 -13 0.708 0.557 EUR HANCESTRO_0005 UK Biobank 450k GCST90077617 430494 430494 158.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GCK OralDiabetes Med (RGC) EFO_0007010 1.42e-12 1.42 -12 18.024 40.126 EUR HANCESTRO_0005 UK Biobank 450k GCST90081503 320758 13132 15.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON STC2 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 4.8e-13 4.8 -13 0.121 0.095 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 822.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SCUBE3 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 8.78e-13 8.78 -13 -0.098 -0.135 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 396.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TYK2 Lymphocyte count (30120) EFO_0004587 1.92e-15 1.92 -15 0.105 0.085 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 7855.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NPR2 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 1.27e-11 1.27 -11 -0.307 -0.431 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 35.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON RASA3 Lymphocyte count (30120) EFO_0004587 1.45e-12 1.45 -12 -0.224 -0.31 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 456.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON RASA2 Lymphocyte count (30120) EFO_0004587 5.35e-15 5.35 -15 -0.176 -0.235 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 970.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON RASA2 Lymphocyte count (30120) EFO_0004587 6.25e-12 6.25 -12 -0.258 -0.361 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 318.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GCK OralDiabetes Med (RGC) EFO_0007010 1.98e-14 1.98 -14 4.366 6.369 EUR HANCESTRO_0005 UK Biobank 450k GCST90081503 320758 13132 46.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 1.02e-15 1.02 -15 0.532 0.427 EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 50.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ANKRD12 Lymphocyte count (30120) EFO_0004587 1.22e-11 1.22 -11 -0.255 -0.359 EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 312.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 Z09.0: Follow-up examination after surgery for other conditions (Z09.0) EFO_0004542 1.39e-11 1.39 -11 12.039 24.77 EUR HANCESTRO_0005 UK Biobank 450k GCST90081201 387930 5895 15.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APC ICD10 Z09.0: Follow-up examination after surgery for other conditions (Z09.0) EFO_0004542 1.39e-11 1.39 -11 12.039 24.77 EUR HANCESTRO_0005 UK Biobank 450k GCST90081201 387930 5895 15.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PCSK9 Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 1.26e-14 1.26 -14 0.254 0.36 EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 22.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LDLR Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 2.1200000000000002e-35 2.12 -35 4.714 6.021 EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 140.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GCK DD DM - Yes (2443) EFO_0000400 5.02e-32 5.02 -32 10.576 15.659 EUR HANCESTRO_0005 UK Biobank 450k GCST90078949 429739 22058 57.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON GCK DD DM - Yes (2443) EFO_0000400 3.35e-14 3.35 -14 10.223 18.642 EUR HANCESTRO_0005 UK Biobank 450k GCST90078949 429739 22058 24.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON GCK DD DM - Yes (2443) EFO_0000400 1.2299999999999998e-23 1.23 -23 22.735 41.882 EUR HANCESTRO_0005 UK Biobank 450k GCST90078949 429739 22058 29.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SMAD6 corneal power (RGC) EFO_0004731 2.88e-18 2.88 -18 0.486 0.397 EUR HANCESTRO_0005 UK Biobank 450k GCST90081537 103531 103531 384.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON FLG ICD10 L20: Atopic dermatitis EFO_0000274 1.57e-16 1.57 -16 2.006 2.367 EUR HANCESTRO_0005 UK Biobank 450k GCST90080337 378953 2972 179.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MFRP corneal power (RGC) EFO_0004731 2e-11 2.0 -11 0.318 0.246 EUR HANCESTRO_0005 UK Biobank 450k GCST90081537 103531 103531 594.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SMAD6 corneal power (RGC) EFO_0004731 3.85e-19 3.85 -19 0.93 0.763 EUR HANCESTRO_0005 UK Biobank 450k GCST90081537 103531 103531 109.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK Glycated haemoglobin HbA1c (30750) EFO_0004541 1.1800000000000002e-37 1.18 -37 1.515 1.314 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 73.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON RHAG Glycated haemoglobin HbA1c (30750) EFO_0004541 1.18e-50 1.18 -50 -0.791 -0.91 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 207.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK Glycated haemoglobin HbA1c (30750) EFO_0004541 3.49e-112 3.49 -112 1.154 1.061 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 345.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TSHR ICD10 E03: Other hypothyroidism EFO_0004705 8.37e-25 8.37 -25 2.45 2.906 EUR HANCESTRO_0005 UK Biobank 450k GCST90079722 383065 21010 198.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK Glycated haemoglobin HbA1c (30750) EFO_0004541 2.29e-22 2.29 -22 1.526 1.27 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 45.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON RHAG Glycated haemoglobin HbA1c (30750) EFO_0004541 6.040000000000001e-21 6.04 -21 -0.177 -0.224 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 1342.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANK1 Glycated haemoglobin HbA1c (30750) EFO_0004541 3.07e-27 3.07 -27 -0.083 -0.102 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 8840.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON G6PC2 Glycated haemoglobin HbA1c (30750) EFO_0004541 9.089999999999999e-23 9.09 -23 -0.128 -0.16 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 2924.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PTPRH Glycated haemoglobin HbA1c (30750) EFO_0004541 1.43e-18 1.43 -18 0.154 0.126 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 3771.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TFR2 Glycated haemoglobin HbA1c (30750) EFO_0004541 2.06e-13 2.06 -13 -0.082 -0.112 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 3307.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ATP11C Glycated haemoglobin HbA1c (30750) EFO_0004541 1.45e-14 1.45 -14 -0.49 -0.657 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 71.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PFKM Glycated haemoglobin HbA1c (30750) EFO_0004541 2.1299999999999998e-39 2.13 -39 -0.232 -0.273 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 1782.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GCK Glycated haemoglobin HbA1c (30750) EFO_0004541 1.43e-28 1.43 -28 1.541 1.309 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 55.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON PFKM Glycated haemoglobin HbA1c (30750) EFO_0004541 2.2299999999999997e-42 2.23 -42 -0.263 -0.307 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 1515.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PFKM Glycated haemoglobin HbA1c (30750) EFO_0004541 3.7e-16 3.7 -16 -0.232 -0.305 EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 547.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SIX6 MeanSphericalEquivalent started wearing glasses contacts before 40 (RGC) EFO_0004731 7.35e-19 7.35 -19 -0.24 -0.308 EUR HANCESTRO_0005 UK Biobank 450k GCST90081498 48482 48482 717.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MFRP MeanSphericalEquivalent started wearing glasses contacts before 40 (RGC) EFO_0004731 1.89e-15 1.89 -15 0.564 0.452 EUR HANCESTRO_0005 UK Biobank 450k GCST90081498 48482 48482 271.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON APC ICD10 Z93.2: Ileostomy status EFO_0002571 1.1e-21 1.1 -21 50.818 113.64 EUR HANCESTRO_0005 UK Biobank 450k GCST90081413 387887 1429 16.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ASXL1 Ever smoked - Yes (20160) EFO_0006527 6.19e-20 6.19 -20 1.851 2.112 EUR HANCESTRO_0005 UK Biobank 450k GCST90078324 429301 263214 934.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IFT140 ICD10 Q61: Cystic kidney disease EFO_0008615 5.13e-14 5.13 -14 12.996 25.339 EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 17.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON PKD1 ICD10 Q61: Cystic kidney disease EFO_0008615 4.76e-123 4.76 -123 207.08 322.526 EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 68.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PKD2 ICD10 Q61: Cystic kidney disease EFO_0008615 1.4e-57 1.4 -57 106.151 188.01 EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 36.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON UBR2 Leg fat percentage right (23111) EFO_0007800 4.12e-12 4.12 -12 0.438 0.341 EUR HANCESTRO_0005 UK Biobank 450k GCST90078914 423666 423666 141.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PKD1 ICD10 Q61: Cystic kidney disease EFO_0008615 7.23e-112 7.23 -112 454.198 774.41 EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 54.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON APC ICD10 K31.7: Polyp of stomach and duodenum MONDO_0008277 1.7e-15 1.7 -15 16.091 31.887 EUR HANCESTRO_0005 UK Biobank 450k GCST90080210 387782 6198 18.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON PKD2 ICD10 Q61: Cystic kidney disease EFO_0008615 1.01e-34 1.01 -34 514.818 1393.35 EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 15.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON PKD1 ICD10 Z94: Transplanted organ and tissue status EFO_0002571 3.9500000000000004e-65 3.95 -65 70.452 114.923 EUR HANCESTRO_0005 UK Biobank 450k GCST90081418 387906 1305 47.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN ICD10 I50: Heart failure EFO_0003144 1.92e-21 1.92 -21 2.085 2.426 EUR HANCESTRO_0005 UK Biobank 450k GCST90080023 387076 8159 226.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 I50: Heart failure EFO_0003144 1.92e-21 1.92 -21 2.085 2.426 EUR HANCESTRO_0005 UK Biobank 450k GCST90080023 387076 8159 226.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN ICD10 I50: Heart failure EFO_0003144 3.59e-23 3.59 -23 4.454 5.984 EUR HANCESTRO_0005 UK Biobank 450k GCST90080023 387076 8159 73.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON TTN Systolic blood pressure automated reading (4080) EFO_0006335 1.93e-15 1.93 -15 -0.106 -0.141 EUR HANCESTRO_0005 UK Biobank 450k GCST90079146 408211 408211 2574.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SIX6 SphericalEquivalent r (RGC) EFO_0004731 1.6700000000000002e-21 1.67 -21 -0.182 -0.229 EUR HANCESTRO_0005 UK Biobank 450k GCST90081512 107475 107475 1505.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON COL21A1 Systolic blood pressure automated reading (4080) EFO_0006335 5.25e-15 5.25 -15 0.156 0.125 EUR HANCESTRO_0005 UK Biobank 450k GCST90079146 408211 408211 3158.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON FLG ICD10 J45: Asthma MONDO_0004979 5.2e-13 5.2 -13 1.232 1.303 EUR HANCESTRO_0005 UK Biobank 450k GCST90080141 383974 39436 1513.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Systolic blood pressure automated reading (4080) EFO_0006335 1.01e-19 1.01 -19 -0.08 -0.102 EUR HANCESTRO_0005 UK Biobank 450k GCST90079146 408211 408211 6469.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR DD vascular heart problems - Angina (6150) EFO_0003913 1.29e-14 1.29 -14 2.334 2.895 EUR HANCESTRO_0005 UK Biobank 450k GCST90079443 129643 14103 132.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SIX6 SphericalEquivalent l started wearing glasses contacts before 40 (RGC) EFO_0004731 1.04e-18 1.04 -18 -0.24 -0.308 EUR HANCESTRO_0005 UK Biobank 450k GCST90081511 48821 48821 718.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Weight (23098) EFO_0004338 1.7999999999999998e-31 1.8 -31 0.362 0.31 EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ASXL1 ICD10 Z72.0: Tobacco use EFO_0007869 3.61e-12 3.61 -12 2.045 2.501 EUR HANCESTRO_0005 UK Biobank 450k GCST90081310 377012 21842 131.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CALR ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 4.54e-16 4.54 -16 36.256 86.224 EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 13.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ZFAT Weight (23098) EFO_0004338 3.3900000000000004e-37 3.39 -37 0.147 0.127 EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 6712.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SRSF2 ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 8.580000000000001e-21 8.58 -21 17.087 30.973 EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 24.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 2.23e-20 2.23 -20 4.664 6.463 EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 58.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MC4R Weight (23098) EFO_0004338 7.43e-16 7.43 -16 0.581 0.467 EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 197.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 1.04e-17 1.04 -17 4.636 6.584 EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 50.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON CALR ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 4.54e-16 4.54 -16 36.256 86.224 EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 13.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Weight (23098) EFO_0004338 3.26e-30 3.26 -30 0.314 0.268 EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC22A11 Testosterone (30850) EFO_0004908 3.63e-12 3.63 -12 -0.048 -0.066 EUR HANCESTRO_0005 UK Biobank 450k GCST90079042 373826 373826 3869.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON SLC22A11 Testosterone (30850) EFO_0004908 3.49e-12 3.49 -12 -0.048 -0.066 EUR HANCESTRO_0005 UK Biobank 450k GCST90079042 373826 373826 3875.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GATA5 Forced vital capacity FVC Best measure (20151) EFO_0004312 7.06e-14 7.06 -14 -0.05 -0.067 EUR HANCESTRO_0005 UK Biobank 450k GCST90078317 322002 322002 5446.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FLG ChildhoodAsthmaCases vs AllergicDiseaseControls (RGC) MONDO_0005405 7.93e-28 7.93 -28 1.563 1.694 EUR HANCESTRO_0005 UK Biobank 450k GCST90081473 297425 16952 787.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TTN Forced vital capacity FVC Best measure (20151) EFO_0004312 8.7e-15 8.7 -15 -0.086 -0.115 EUR HANCESTRO_0005 UK Biobank 450k GCST90078317 322002 322002 2001.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Forced vital capacity FVC Best measure (20151) EFO_0004312 4.79e-13 4.79 -13 -0.061 -0.084 EUR HANCESTRO_0005 UK Biobank 450k GCST90078317 322002 322002 3321.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON ANKRD12 Touchscreen duration (630) EFO_0000689 1.1e-15 1.1 -15 0.494 0.397 EUR HANCESTRO_0005 UK Biobank 450k GCST90079491 430751 430751 318.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC1R Use of sun uv protection - Sometimes (2267) EFO_0010729 1.97e-13 1.97 -13 0.811 0.858 EUR HANCESTRO_0005 UK Biobank 450k GCST90078880 430409 150448 1795.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Impedance of leg left (23108) HP_0000924 2.43e-27 2.43 -27 -0.216 -0.264 EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 1201.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON COL8A2 Impedance of leg left (23108) HP_0000924 9.46e-13 9.46 -13 0.43 0.337 EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 322.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Impedance of leg left (23108) HP_0000924 3.11e-17 3.11 -17 0.133 0.108 EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 4408.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Impedance of leg left (23108) HP_0000924 1.57e-16 1.57 -16 0.169 0.136 EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 2646.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC4R Impedance of leg left (23108) HP_0000924 8.12e-15 8.12 -15 -0.349 -0.467 EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 197.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MSH6 ICD10 Z80.0: Family history of malignant neoplasm of digestive organs EFO_0009640 4.8e-12 4.8 -12 3.83 5.606 EUR HANCESTRO_0005 UK Biobank 450k GCST90081329 385471 9455 41.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON MLH1 ICD10 Z80.0: Family history of malignant neoplasm of digestive organs EFO_0009640 2.34e-16 2.34 -16 39.258 94.352 EUR HANCESTRO_0005 UK Biobank 450k GCST90081329 385471 9455 14.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON MSH2 ICD10 Z80.0: Family history of malignant neoplasm of digestive organs EFO_0009640 1.07e-24 1.07 -24 16.287 27.755 EUR HANCESTRO_0005 UK Biobank 450k GCST90081329 385471 9455 31.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN Non cancer illness code self reported - atrial fibrillation EFO_0000275 6.26e-13 6.26 -13 4.515 6.808 EUR HANCESTRO_0005 UK Biobank 450k GCST90077881 331754 3921 37.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON TTN Non cancer illness code self reported - atrial fibrillation EFO_0000275 1.17e-19 1.17 -19 3.466 4.534 EUR HANCESTRO_0005 UK Biobank 450k GCST90077881 331754 3921 81.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON LRP5 Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 9.79e-14 9.79 -14 -0.443 -0.601 EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 120.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MEPE Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 9.15e-15 9.15 -15 -0.24 -0.321 EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 453.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN Arm fat free mass right (23121) EFO_0004995 1.8800000000000002e-27 1.88 -27 -0.076 -0.093 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 4403.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TTN Arm fat free mass right (23121) EFO_0004995 5.14e-20 5.14 -20 -0.053 -0.068 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 5844.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R Arm fat free mass right (23121) EFO_0004995 4.02e-12 4.02 -12 0.355 0.277 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 197.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Arm fat free mass right (23121) EFO_0004995 1.39e-19 1.39 -19 -0.501 -0.639 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 63.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC4R Arm fat free mass right (23121) EFO_0004995 2.55e-19 2.55 -19 0.201 0.165 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON MAMDC2 Corneal resistance factor right (5257) EFO_0010067 4.52e-18 4.52 -18 0.301 0.245 EUR HANCESTRO_0005 UK Biobank 450k GCST90079336 105888 105888 1123.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PTPN11 Arm fat free mass right (23121) EFO_0004995 1.08e-11 1.08 -11 -0.149 -0.21 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 332.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TTN HF (RGC) EFO_0003144 1.95e-21 1.95 -21 2.085 2.425 EUR HANCESTRO_0005 UK Biobank 450k GCST90081485 387050 8159 226.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IRS1 Arm fat free mass right (23121) EFO_0004995 1.27e-22 1.27 -22 -0.372 -0.466 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 140.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R Arm fat free mass right (23121) EFO_0004995 4.56e-19 4.56 -19 -0.124 -0.159 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 995.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON COL6A1 Corneal resistance factor right (5257) EFO_0010067 4.21e-13 4.21 -13 -0.957 -1.312 EUR HANCESTRO_0005 UK Biobank 450k GCST90079336 105888 105888 27.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON IGF1R Arm fat free mass right (23121) EFO_0004995 4.86e-18 4.86 -18 -0.157 -0.204 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 568.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON LCORL Arm fat free mass right (23121) EFO_0004995 1.71e-13 1.71 -13 0.445 0.352 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 138.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON G6PC Arm fat free mass right (23121) EFO_0004995 1.14e-11 1.14 -11 -0.07 -0.099 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 1484.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON COL6A1 Corneal resistance factor right (5257) EFO_0010067 4.79e-12 4.79 -12 -0.262 -0.366 EUR HANCESTRO_0005 UK Biobank 450k GCST90079336 105888 105888 317.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PAPPA2 Arm fat free mass right (23121) EFO_0004995 8.69e-14 8.69 -14 -0.069 -0.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 2008.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TTN HF (RGC) EFO_0003144 3.12e-34 3.12 -34 3.368 4.094 EUR HANCESTRO_0005 UK Biobank 450k GCST90081485 387050 8159 156.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON TTN HF (RGC) EFO_0003144 1.95e-21 1.95 -21 2.085 2.425 EUR HANCESTRO_0005 UK Biobank 450k GCST90081485 387050 8159 226.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SCUBE3 Standing height (50) EFO_0004339 6.22e-30 6.22 -30 -0.12 -0.145 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2094.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SCUBE3 Standing height (50) EFO_0004339 5.13e-16 5.13 -16 -0.325 -0.429 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 121.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON FIBIN Standing height (50) EFO_0004339 3.82e-17 3.82 -17 -0.054 -0.071 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 4759.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NPR2 Standing height (50) EFO_0004339 4.21e-13 4.21 -13 -0.291 -0.398 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 111.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON COL27A1 Standing height (50) EFO_0004339 1.28e-12 1.28 -12 -0.22 -0.305 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 182.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON LCORL Standing height (50) EFO_0004339 2.95e-32 2.95 -32 0.629 0.54 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 161.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Standing height (50) EFO_0004339 4.94e-32 4.94 -32 0.823 0.705 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 93.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON NPR2 Standing height (50) EFO_0004339 2.09e-55 2.09 -55 -0.218 -0.249 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1332.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON COL27A1 Standing height (50) EFO_0004339 1.28e-12 1.28 -12 -0.22 -0.305 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 182.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GHRH Standing height (50) EFO_0004339 2.19e-20 2.19 -20 -0.348 -0.441 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 146.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IRS1 Standing height (50) EFO_0004339 2.81e-12 2.81 -12 -0.043 -0.059 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 4783.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ACAN Standing height (50) EFO_0004339 5.49e-64 5.49 -64 -1.305 -1.476 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 44.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON NRK Standing height (50) EFO_0004339 6.07e-12 6.07 -12 0.337 0.262 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 148.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LTBP3 Standing height (50) EFO_0004339 8.16e-14 8.16 -14 -0.061 -0.083 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2723.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PTPN11 Standing height (50) EFO_0004339 4.69e-15 4.69 -15 -0.185 -0.247 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 340.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PDE3B Standing height (50) EFO_0004339 4.21e-19 4.21 -19 0.138 0.113 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2097.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON DDR2 Standing height (50) EFO_0004339 4.61e-13 4.61 -13 -0.102 -0.14 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 913.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON GHRH Standing height (50) EFO_0004339 5.72e-13 5.72 -13 -0.29 -0.398 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 109.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON LCORL Standing height (50) EFO_0004339 2.95e-32 2.95 -32 0.629 0.54 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 161.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACAN Standing height (50) EFO_0004339 1.0699999999999999e-81 1.07 -81 -1.245 -1.387 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 64.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON IGF1R Standing height (50) EFO_0004339 1.3399999999999999e-25 1.34 -25 -0.36 -0.443 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 187.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON NPR2 Standing height (50) EFO_0004339 2.09e-55 2.09 -55 -0.218 -0.249 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1332.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON GHRH Standing height (50) EFO_0004339 5.72e-13 5.72 -13 -0.29 -0.398 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 109.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GFPT2 Standing height (50) EFO_0004339 6.14e-13 6.14 -13 -0.056 -0.077 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2959.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NPR2 Standing height (50) EFO_0004339 3.46e-33 3.46 -33 -0.57 -0.681 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 104.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON CNPY2 Standing height (50) EFO_0004339 5.41e-14 5.41 -14 -0.251 -0.339 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 166.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON DTL Standing height (50) EFO_0004339 5.23e-25 5.23 -25 -0.404 -0.498 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 146.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ACAN Standing height (50) EFO_0004339 6.05e-53 6.05 -53 -0.719 -0.824 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 116.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADAMTS10 Standing height (50) EFO_0004339 2.28e-27 2.28 -27 -0.158 -0.193 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1051.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NRK Standing height (50) EFO_0004339 3.29e-17 3.29 -17 0.316 0.256 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 259.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON PDE3B Standing height (50) EFO_0004339 1.02e-13 1.02 -13 0.156 0.123 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1214.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON THBS3 Standing height (50) EFO_0004339 1.17e-11 1.17 -11 -0.042 -0.059 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 4475.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET1 Standing height (50) EFO_0004339 1.04e-13 1.04 -13 0.251 0.198 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 469.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ADAMTS10 Standing height (50) EFO_0004339 4.99e-16 4.99 -16 -0.376 -0.496 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 89.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON NRK Standing height (50) EFO_0004339 3.58e-15 3.58 -15 0.406 0.325 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 129.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SCUBE3 Standing height (50) EFO_0004339 1.8e-33 1.8 -33 -0.167 -0.2 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1235.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON PTPN11 Standing height (50) EFO_0004339 4.69e-15 4.69 -15 -0.185 -0.247 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 340.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ACAN Standing height (50) EFO_0004339 2.96e-13 2.96 -13 -0.126 -0.173 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 603.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ZFAT Standing height (50) EFO_0004339 5.8100000000000005e-58 5.81 -58 0.437 0.389 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 568.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON HTRA1 Standing height (50) EFO_0004339 2.96e-13 2.96 -13 -0.144 -0.197 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 457.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON NF1 Standing height (50) EFO_0004339 4.27e-24 4.27 -24 -0.317 -0.393 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 222.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON ZFAT Standing height (50) EFO_0004339 1.31e-44 1.31 -44 0.229 0.201 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1621.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA2 Type of Cancer: Malignant neoplasm of breast of unspecified site (40006) EFO_0003869 4.08e-13 4.08 -13 2.894 3.857 EUR HANCESTRO_0005 UK Biobank 450k GCST90079107 41005 5931 83.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON CNPY2 Standing height (50) EFO_0004339 4.87e-16 4.87 -16 -0.178 -0.234 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 405.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SERPINH1 Standing height (50) EFO_0004339 7.94e-18 7.94 -18 -0.455 -0.589 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 71.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ZFAT Standing height (50) EFO_0004339 5.6200000000000006e-21 5.62 -21 0.5 0.414 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 172.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON ADAMTS17 Standing height (50) EFO_0004339 7.7e-41 7.7 -41 -0.332 -0.389 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 399.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON FGFR3 Standing height (50) EFO_0004339 3.9800000000000006e-21 3.98 -21 -0.056 -0.07 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 6086.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GRAMD2 Standing height (50) EFO_0004339 3.77e-31 3.77 -31 0.079 0.068 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 10065.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON IGF1R Standing height (50) EFO_0004339 2.18e-12 2.18 -12 -0.448 -0.621 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 43.0 ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 -REGENERON SERPINH1 Standing height (50) EFO_0004339 2.72e-15 2.72 -15 -0.145 -0.193 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 558.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON HMGA2 Standing height (50) EFO_0004339 8.11e-12 8.11 -12 -0.359 -0.504 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 62.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CRISPLD2 Standing height (50) EFO_0004339 1.36e-25 1.36 -25 -0.083 -0.102 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 3504.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON DTL Standing height (50) EFO_0004339 2.13e-22 2.13 -22 -0.18 -0.225 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 637.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ANGPTL2 Standing height (50) EFO_0004339 1.07e-17 1.07 -17 -0.091 -0.118 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1769.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON TET1 Standing height (50) EFO_0004339 2.26e-12 2.26 -12 0.658 0.515 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 62.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON FLNB Standing height (50) EFO_0004339 2.21e-13 2.21 -13 -0.032 -0.044 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 9501.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON NPR2 Standing height (50) EFO_0004339 3.2e-47 3.2 -47 -0.225 -0.26 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1036.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON CNNM3 Standing height (50) EFO_0004339 7.39e-12 7.39 -12 0.17 0.132 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 917.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IGF1R Standing height (50) EFO_0004339 1.38e-18 1.38 -18 -0.467 -0.601 EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 72.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON GCK Metformin Med (RGC) EFO_0007010 5.16e-13 5.16 -13 4.223 6.243 EUR HANCESTRO_0005 UK Biobank 450k GCST90081499 320758 12065 42.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GCK Metformin Med (RGC) EFO_0007010 1.71e-11 1.71 -11 13.939 30.025 EUR HANCESTRO_0005 UK Biobank 450k GCST90081499 320758 12065 15.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON GCK Metformin Med (RGC) EFO_0007010 6.48e-14 6.48 -14 7.554 12.815 EUR HANCESTRO_0005 UK Biobank 450k GCST90081499 320758 12065 27.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON MSH6 Self Report - uterine endometrial cancer (20001) EFO_0002919 4.56e-13 4.56 -13 11.265 21.705 EUR HANCESTRO_0005 UK Biobank 450k GCST90077633 39614 1131 21.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON WNT1 Heel bone mineral density BMD left (4105) EFO_0009270 2.15e-13 2.15 -13 -0.367 -0.501 EUR HANCESTRO_0005 UK Biobank 450k GCST90079152 166186 166186 167.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON INSC Heel bone mineral density BMD left (4105) EFO_0009270 3.24e-12 3.24 -12 0.112 0.087 EUR HANCESTRO_0005 UK Biobank 450k GCST90079152 166186 166186 5111.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON FLCN Non cancer illness code self reported - spontaneous pneumothorax recurrent pneumothorax HP_0002108 1.75e-28 1.75 -28 66.512 139.845 EUR HANCESTRO_0005 UK Biobank 450k GCST90077685 331754 1058 20.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON WNT1 Heel bone mineral density BMD left (4105) EFO_0009270 1.52e-13 1.52 -13 -0.374 -0.509 EUR HANCESTRO_0005 UK Biobank 450k GCST90079152 166186 166186 164.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON APC ICD10 Z90.4: Acquired absence of other specified parts of digestive tract EFO_0000405 1.4400000000000001e-21 1.44 -21 16.973 30.37 EUR HANCESTRO_0005 UK Biobank 450k GCST90081392 387855 8508 26.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON WNT1 Heel bone mineral density BMD left (4105) EFO_0009270 2.15e-13 2.15 -13 -0.367 -0.501 EUR HANCESTRO_0005 UK Biobank 450k GCST90079152 166186 166186 167.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON MEPE Heel bone mineral density BMD left (4105) EFO_0009270 4.0499999999999995e-23 4.05 -23 -0.275 -0.343 EUR HANCESTRO_0005 UK Biobank 450k GCST90079152 166186 166186 649.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON LDLR Non cancer illness code self reported - angina EFO_0003913 2.02e-15 2.02 -15 2.464 3.078 EUR HANCESTRO_0005 UK Biobank 450k GCST90077655 331754 14285 114.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON BRCA1 Ever had hysterectomy womb removed - Yes (3591) EFO_0003881 1.19e-12 1.19 -12 3.42 4.8 EUR HANCESTRO_0005 UK Biobank 450k GCST90079065 207093 18107 58.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SMAD6 3mm weak meridian right (5099) EFO_0004731 1.23e-15 1.23 -15 0.445 0.357 EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 404.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON ANGPTL7 3mm weak meridian right (5099) EFO_0004731 2e-14 2.0 -14 0.202 0.161 EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 1842.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON PRSS56 3mm weak meridian right (5099) EFO_0004731 7.62e-12 7.62 -12 0.577 0.449 EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 188.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON BRCA1 Ever had hysterectomy womb removed - Yes (3591) EFO_0003881 1.19e-12 1.19 -12 3.42 4.8 EUR HANCESTRO_0005 UK Biobank 450k GCST90079065 207093 18107 58.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON SMAD6 3mm weak meridian right (5099) EFO_0004731 3.69e-19 3.69 -19 0.94 0.771 EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 108.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON IL33 AsthmaCases vs AllergicDiseaseControls (RGC) MONDO_0004979 2.58e-15 2.58 -15 0.676 0.745 EUR HANCESTRO_0005 UK Biobank 450k GCST90081459 328314 47628 427.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON FLG AsthmaCases vs AllergicDiseaseControls (RGC) MONDO_0004979 9.7e-18 9.7 -18 1.266 1.336 EUR HANCESTRO_0005 UK Biobank 450k GCST90081459 328314 47628 1808.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R TAG Obesity (RGC) EFO_0001073 5.37e-22 5.37 -22 2.193 2.572 EUR HANCESTRO_0005 UK Biobank 450k GCST90081522 246639 104086 452.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R TAG Obesity (RGC) EFO_0001073 6.22e-13 6.22 -13 4.512 6.802 EUR HANCESTRO_0005 UK Biobank 450k GCST90081522 246639 104086 86.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON MC4R TAG Obesity (RGC) EFO_0001073 5.860000000000001e-21 5.86 -21 2.369 2.836 EUR HANCESTRO_0005 UK Biobank 450k GCST90081522 246639 104086 371.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON FANCA Hair colour natural before greying - Dark brown (1747) EFO_0007822 6.76e-12 6.76 -12 1.195 1.257 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 3025.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON GAS8 Hair colour natural before greying - Dark brown (1747) EFO_0007822 1.18e-18 1.18 -18 0.796 0.838 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 2605.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC12A9 Hair colour natural before greying - Dark brown (1747) EFO_0007822 1.01e-13 1.01 -13 0.528 0.625 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 205.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON TCF25 Hair colour natural before greying - Dark brown (1747) EFO_0007822 1.25e-11 1.25 -11 1.248 1.331 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 1921.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON OCA2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 3.13e-12 3.13 -12 0.222 0.339 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 19.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON TYRP1 Hair colour natural before greying - Dark brown (1747) EFO_0007822 5.46e-30 5.46 -30 0.758 0.795 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 2932.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC45A2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 4.76e-14 4.76 -14 0.379 0.488 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 75.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON OCA2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 6.55e-26 6.55 -26 0.196 0.266 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 36.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TYRP1 Hair colour natural before greying - Dark brown (1747) EFO_0007822 1.35e-16 1.35 -16 0.362 0.46 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 82.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON PADI3 Hair colour natural before greying - Dark brown (1747) EFO_0007822 8.98e-13 8.98 -13 0.888 0.917 EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 6885.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SPHK1 Monocyte percentage (30190) EFO_0007989 4.93e-12 4.93 -12 -0.057 -0.08 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 6077.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TNFRSF13B Monocyte percentage (30190) EFO_0007989 1.36e-40 1.36 -40 -0.122 -0.143 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 7135.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON NPC1 Monocyte percentage (30190) EFO_0007989 2.06e-12 2.06 -12 -0.092 -0.128 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 2741.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON IL17RA Monocyte percentage (30190) EFO_0007989 1.16e-11 1.16 -11 -0.337 -0.473 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 166.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 Monocyte percentage (30190) EFO_0007989 2.14e-15 2.14 -15 0.334 0.268 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 710.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON FLT3 Monocyte percentage (30190) EFO_0007989 2.34e-16 2.34 -16 0.267 0.215 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 1180.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON TET2 Monocyte percentage (30190) EFO_0007989 8.010000000000001e-31 8.01 -31 0.289 0.247 EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 1777.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ABCC2 Direct bilirubin (30660) EFO_0004570 3.39e-21 3.39 -21 0.1 0.083 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 8833.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A4 Direct bilirubin (30660) EFO_0004570 6.69e-26 6.69 -26 0.312 0.263 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1338.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLC4A1 Direct bilirubin (30660) EFO_0004570 8.34e-16 8.34 -16 0.852 0.685 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 91.0 ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 -REGENERON UGT1A10 Direct bilirubin (30660) EFO_0004570 1.72e-59 1.72 -59 0.396 0.353 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1766.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SLC4A1 Direct bilirubin (30660) EFO_0004570 1.3700000000000002e-21 1.37 -21 1.116 0.926 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 70.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A5 Direct bilirubin (30660) EFO_0004570 1.1900000000000001e-35 1.19 -35 0.43 0.372 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 937.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SPTA1 Direct bilirubin (30660) EFO_0004570 4.1200000000000004e-27 4.12 -27 0.567 0.48 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 333.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON SLCO1B1 Direct bilirubin (30660) EFO_0004570 9.19e-33 9.19 -33 0.398 0.341 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 823.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON ATP11C Direct bilirubin (30660) EFO_0004570 5.09e-20 5.09 -20 0.951 0.783 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 60.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON UGT1A4 Direct bilirubin (30660) EFO_0004570 1.47e-41 1.47 -41 0.497 0.434 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 806.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON SPTA1 Direct bilirubin (30660) EFO_0004570 1.8399999999999998e-23 1.84 -23 0.591 0.494 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 269.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC4A1 Direct bilirubin (30660) EFO_0004570 7.11e-16 7.11 -16 0.456 0.367 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 319.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON UGT1A9 Direct bilirubin (30660) EFO_0004570 4.8299999999999993e-42 4.83 -42 0.4 0.35 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1261.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A4 Direct bilirubin (30660) EFO_0004570 6.69e-26 6.69 -26 0.312 0.263 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1338.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON SPTA1 Direct bilirubin (30660) EFO_0004570 4.1200000000000004e-27 4.12 -27 0.567 0.48 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 333.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON UGT1A8 Direct bilirubin (30660) EFO_0004570 2.7500000000000003e-37 2.75 -37 0.464 0.402 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 838.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON COL6A1 Corneal hysteresis left (5264) EFO_0010066 1.09e-25 1.09 -25 -0.948 -1.166 EUR HANCESTRO_0005 UK Biobank 450k GCST90079339 105697 105697 73.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON APOB Direct bilirubin (30660) EFO_0004570 2.5e-12 2.5 -12 0.271 0.212 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 913.0 ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 -REGENERON ATP11C Direct bilirubin (30660) EFO_0004570 5.44e-20 5.44 -20 0.956 0.787 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 59.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON SLC4A1 Direct bilirubin (30660) EFO_0004570 1.3700000000000002e-21 1.37 -21 1.116 0.926 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 70.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC1R Hair colour natural before greying - Light brown (1747) EFO_0007822 3.47e-25 3.47 -25 0.748 0.79 EUR HANCESTRO_0005 UK Biobank 450k GCST90077608 429979 175455 2016.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON UGT1A6 Direct bilirubin (30660) EFO_0004570 2.65e-43 2.65 -43 0.49 0.429 EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 863.0 ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 6.619999999999999e-23 6.62 -23 7.66 11.484 EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 42.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Waist circumference (48) EFO_0004342 3.9599999999999997e-23 3.96 -23 0.284 0.237 EUR HANCESTRO_0005 UK Biobank 450k GCST90079228 430261 430261 1225.0 ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 -REGENERON CALR ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 2.97e-28 2.97 -28 18.016 30.125 EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 32.0 ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 -REGENERON ASXL1 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 1.18e-12 1.18 -12 10.874 20.998 EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 17.0 ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 -REGENERON MC4R Waist circumference (48) EFO_0004342 3.3e-13 3.3 -13 0.545 0.429 EUR HANCESTRO_0005 UK Biobank 450k GCST90079228 430261 430261 202.0 ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 -REGENERON MC4R Waist circumference (48) EFO_0004342 3.3e-13 3.3 -13 0.545 0.429 EUR HANCESTRO_0005 UK Biobank 450k GCST90079228 430261 430261 202.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON TET2 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 6.619999999999999e-23 6.62 -23 7.66 11.484 EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 42.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -REGENERON TET2 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 6.619999999999999e-23 6.62 -23 7.66 11.484 EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 42.0 ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 -REGENERON APC ICD10 D13: Benign neoplasm of other and ill-defined parts of digestive system EFO_0002422 2.3300000000000002e-29 2.33 -29 71.302 149.957 EUR HANCESTRO_0005 UK Biobank 450k GCST90079664 387696 1532 20.0 ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 -SCHEMA consortium CACNA1G ENSG00000006283 schizophrenia MONDO_0005090 4.57e-07 4.57 -7 121570 24248 73.0 meta-analysis Meta-analysis of burden tests carried out with PTVs and missense variants (MPC > 2) with a MAF smaller than 0.005% 35396579 https://schema.broadinstitute.org -SCHEMA consortium RB1CC1 ENSG00000023287 schizophrenia MONDO_0005090 6.35e-08 6.35 -8 121570 24248 42.0 meta-analysis Meta-analysis of burden tests carried out with PTVs and missense variants (MPC > 2) with a MAF smaller than 0.005% 35396579 https://schema.broadinstitute.org -SCHEMA consortium CUL1 ENSG00000055130 schizophrenia MONDO_0005090 2.01e-09 2.01 -9 121570 24248 17.0 meta-analysis Meta-analysis of burden tests carried out with PTVs and missense variants (MPC > 2) with a MAF smaller than 0.005% 35396579 https://schema.broadinstitute.org -SCHEMA consortium SETD1A ENSG00000099381 schizophrenia MONDO_0005090 2e-12 2.0 -12 121570 24248 29.0 meta-analysis Meta-analysis of burden tests carried out with PTVs and missense variants (MPC > 2) with a MAF smaller than 0.005% 35396579 https://schema.broadinstitute.org -SCHEMA consortium HERC1 ENSG00000103657 schizophrenia MONDO_0005090 1.26e-06 1.26 -6 121570 24248 30.0 meta-analysis Meta-analysis of burden tests carried out with PTVs and missense variants (MPC > 2) with a MAF smaller than 0.005% 35396579 https://schema.broadinstitute.org -SCHEMA consortium SP4 ENSG00000105866 schizophrenia MONDO_0005090 5.08e-07 5.08 -7 121570 24248 16.0 meta-analysis Meta-analysis of burden tests carried out with PTVs and missense variants (MPC > 2) with a MAF smaller than 0.005% 35396579 https://schema.broadinstitute.org -SCHEMA consortium GRIA3 ENSG00000125675 schizophrenia MONDO_0005090 5.98e-07 5.98 -7 121570 24248 18.0 meta-analysis Meta-analysis of burden tests carried out with PTVs and missense variants (MPC > 2) with a MAF smaller than 0.005% 35396579 https://schema.broadinstitute.org -SCHEMA consortium XPO7 ENSG00000130227 schizophrenia MONDO_0005090 7.18e-09 7.18 -9 121570 24248 23.0 meta-analysis Meta-analysis of burden tests carried out with PTVs and missense variants (MPC > 2) with a MAF smaller than 0.005% 35396579 https://schema.broadinstitute.org -SCHEMA consortium GRIN2A ENSG00000183454 schizophrenia MONDO_0005090 7.37e-07 7.37 -7 121570 24248 25.0 meta-analysis Meta-analysis of burden tests carried out with PTVs and missense variants (MPC > 2) with a MAF smaller than 0.005% 35396579 https://schema.broadinstitute.org -SCHEMA consortium TRIO ENSG00000038382 schizophrenia MONDO_0005090 6.35e-08 6.35 -8 121570 24248 42.0 meta-analysis Meta-analysis of burden tests carried out with PTVs and missense variants (MPC > 2) with a MAF smaller than 0.005% 35396579 https://schema.broadinstitute.org -Epi25 collaborative NEXMIF ENSG00000050030 developmental and epileptic encephalopathy MONDO_0100062 1.56e-06 1.56 -6 9457 1021 6.0 ptv Burden test carried out with PTVs with a MAF smaller than 0.01%. 31327507 https://epi25.broadinstitute.org -Epi25 collaborative SCN1A ENSG00000144285 developmental and epileptic encephalopathy MONDO_0100062 9.93e-06 9.93 -6 9457 1021 6.0 ptv Burden test carried out with PTVs with a MAF smaller than 0.01%. 31327507 https://epi25.broadinstitute.org -OTAR022 LACTB ENSG00000103642 succinylcarnitine measurement EFO_0020020 7.6e-13 7.6 -13 INTERVAL 3867 3867 Autosomal recessive inheritance MLOF-VT Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the variable threshold test. 35568032 -OTAR022 ACADS ENSG00000122971 butyrylcarnitine measurement EFO_0020010 2.16e-12 2.16 -12 INTERVAL 3881 3881 Autosomal recessive inheritance MLOF-Burden Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the burden test. 35568032 -OTAR022 ABCG5 ENSG00000138075 campesterol measurement EFO_0020008 1.6e-08 1.6 -8 INTERVAL 2013 2013 Autosomal recessive inheritance MLOF-Burden Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the burden test. 35568032 -OTAR022 ACY1 ENSG00000243989 N-acetylmethionine measurement EFO_0021427 2.1e-24 2.1 -24 INTERVAL 3921 3921 Autosomal recessive inheritance MLOF-VT Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the variable threshold test. 35568032 -OTAR022 ADSL ENSG00000239900 N6-succinyladenosine measurement EFO_0021428 8.3e-11 8.3 -11 INTERVAL 3686 3686 Autosomal recessive inheritance MLOF-Burden Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the burden test. 35568032 -OTAR022 CCBL1 ENSG00000286112 indolelactate measurement EFO_0020012 1.2e-08 1.2 -8 INTERVAL 3924 3924 MLOF-Burden Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the burden test. 35568032 -OTAR022 CERS4 ENSG00000090661 sphingomyelin (d18:1/20:1, d18:2/20:0)* measurement EFO_0010118 6.2e-14 6.2 -14 INTERVAL 3924 3924 MLOF-Burden Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the burden test. 35568032 -OTAR022 CIC ENSG00000079432 1-(1-enyl-stearoyl)-2- linoleoyl-GPE (P-18:0/18:2)* measurement EFO_0020014 2.2e-08 2.2 -8 INTERVAL 3922 3922 Autosomal dominant inheritance CODING-Burden Burden test carried out with all coding region variants plus untranslated regions (UTRs) and essential splice sites and applying the burden test. 35568032 -OTAR022 CR1L ENSG00000197721 X-21444 measurement EFO_0020016 1.8e-08 1.8 -8 INTERVAL 2283 2283 CODING-MB Burden test carried out with all coding region variants plus untranslated regions (UTRs) and essential splice sites and applying the Madsen and Browning test. 35568032 -OTAR022 DPCR1 ENSG00000168631 2-aminobutyrate measurement EFO_0020017 2.5e-09 2.5 -9 INTERVAL 3905 3905 CODING-Burden Burden test carried out with all coding region variants plus untranslated regions (UTRs) and essential splice sites and applying the burden test. 35568032 -OTAR022 ERICH6 ENSG00000163645 glycerophosphorylcholine measurement EFO_0020018 1.9e-08 1.9 -8 INTERVAL 3924 3924 LOF-VT Burden test carried out with LoF variants predicted as high confidence by LOFTEE with a MAF smaller than 0.1% and applying the variable threshold test. 35568032 -OTAR022 IVD ENSG00000128928 isovalerylcarnitine measurement EFO_0020019 1.1e-11 1.1 -11 INTERVAL 3920 3920 MLOF-Burden Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the burden test. 35568032 -OTAR022 KYNU ENSG00000115919 xanthurenate measurement EFO_0010551 1.4e-09 1.4 -9 INTERVAL 3829 3829 Autosomal recessive inheritance MLOF-Burden Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the burden test. 35568032 -OTAR022 NAT8 ENSG00000144035 N-acetylarginine measurement EFO_0021429 8.4e-10 8.4 -10 INTERVAL 3854 3854 MLOF-Burden Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the burden test. 35568032 -OTAR022 PAH ENSG00000171759 phenylalanine measurement EFO_0005001 1.7e-10 1.7 -10 INTERVAL 3924 3924 Autosomal recessive inheritance MLOF-MB Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the Madsen and Browning test. 35568032 -OTAR022 PTER ENSG00000165983 N-acetyl-beta-alanine measurement EFO_0021430 1.9e-14 1.9 -14 INTERVAL 3899 3899 MLOF-MB Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the Madsen and Browning test. 35568032 -OTAR022 RGS3 ENSG00000138835 stearoyl sphingomyelin (d18:1/18:0) measurement EFO_0010118 1.6e-08 1.6 -8 INTERVAL 3924 3924 MLOF-VT Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the variable threshold test. 35568032 -OTAR022 SLC16A9 ENSG00000165449 carnitine measurement EFO_0010118 9.5e-09 9.5 -9 INTERVAL 3920 3920 MLOF-VT Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the variable threshold test. 35568032 -OTAR022 NPL ENSG00000135838 N-acetylneuraminate measurement EFO_0020022 3.3e-09 3.3 -9 INTERVAL 3881 3881 MLOF-Burden Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the burden test. 35568032 -OTAR022 SLC25A15 ENSG00000102743 X-15728 measurement EFO_0020024 4.8e-09 4.8 -9 INTERVAL 3596 3596 Autosomal recessive inheritance CODING-Burden Burden test carried out with all coding region variants plus untranslated regions (UTRs) and essential splice sites and applying the burden test. 35568032 -OTAR022 SLC5A10 ENSG00000154025 1,5-anhydroglucitol (1,5-AG) measurement EFO_0008009 2e-11 2.0 -11 INTERVAL 3924 3924 LOF-Burden Burden test carried out with LoF variants predicted as high confidence by LOFTEE with a MAF smaller than 0.1% and applying the burden test. 35568032 - PKD1 ENSG00000008710 chronic kidney disease EFO_0021433 1.5999999999999999e-55 1.6 -55 29.45 1.5 4.8 CUMC, AURORA 10125 562 66.0 Dominant/multiple piv-mendelian-all_dom_ultrarare_OO Burden test carried out with PTV,missense variants and in-frame indels with a MAF smaller than 0%. 31085678 - PKD2 ENSG00000118762 chronic kidney disease EFO_0021433 5.58e-26 5.58 -26 352.0 56.0 13164.0 CUMC, AURORA 10125 562 20.0 Dominant/multiple piv-mendelian-all_dom_rare_LOF Burden test carried out with PTV with a MAF smaller than 0.1%. 31085678 - COL4A5 ENSG00000188153 chronic kidney disease EFO_0021433 4.7e-12 4.7 -12 155.0 21.0 6512.0 CUMC, AURORA 10125 562 9.0 X-linked dominant/multiple piv-mendelian-all_dom_rare_LOF Burden test carried out with PTV with a MAF smaller than 0.1%. 31085678 -Autism Sequencing Consortium CHD8 ENSG00000100888 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 PAGES, DBS 14365 5556 2.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium SCN2A ENSG00000136531 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 PAGES, DBS 14365 5556 3.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium SYNGAP1 ENSG00000197283 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 PAGES, DBS 14365 5556 4.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium ADNP ENSG00000101126 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 PAGES, DBS 14365 5556 3.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium FOXP1 ENSG00000114861 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium POGZ ENSG00000143442 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 PAGES, DBS 14365 5556 6.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium ARID1B ENSG00000049618 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 PAGES, DBS 14365 5556 2.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium SUV420H1 ENSG00000110066 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium DYRK1A ENSG00000157540 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 PAGES, DBS 14365 5556 3.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium SLC6A1 ENSG00000157103 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium GRIN2B ENSG00000273079 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 PAGES, DBS 14365 5556 6.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium PTEN ENSG00000171862 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium SHANK3 ENSG00000251322 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 PAGES, DBS 14365 5556 2.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium MED13L ENSG00000123066 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium GIGYF1 ENSG00000146830 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 PAGES, DBS 14365 5556 6.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium CHD2 ENSG00000173575 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 PAGES, DBS 14365 5556 2.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium ANKRD11 ENSG00000167522 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 PAGES, DBS 14365 5556 3.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium ANK2 ENSG00000145362 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 PAGES, DBS 14365 5556 8.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium ASH1L ENSG00000116539 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium TLK2 ENSG00000146872 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium DNMT3A ENSG00000119772 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium DEAF1 ENSG00000177030 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium CTNNB1 ENSG00000168036 autism spectrum disorder EFO_0003756 5.72e-07 5.72 -7 PAGES, DBS 14365 5556 2.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium KDM6B ENSG00000132510 autism spectrum disorder EFO_0003756 1.72e-06 1.72 -6 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium DSCAM ENSG00000171587 autism spectrum disorder EFO_0003756 1.72e-06 1.72 -6 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium SETD5 ENSG00000168137 autism spectrum disorder EFO_0003756 4e-06 4.0 -6 PAGES, DBS 14365 5556 3.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium KCNQ3 ENSG00000184156 autism spectrum disorder EFO_0003756 4.58e-06 4.58 -6 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium SRPR ENSG00000182934 autism spectrum disorder EFO_0003756 4.58e-06 4.58 -6 PAGES, DBS 14365 5556 2.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium KDM5B ENSG00000117139 autism spectrum disorder EFO_0003756 1.43e-07 1.43 -7 PAGES, DBS 14365 5556 9.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium WAC ENSG00000095787 autism spectrum disorder EFO_0003756 6.29e-06 6.29 -6 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium SHANK2 ENSG00000162105 autism spectrum disorder EFO_0003756 1.54e-05 1.54 -5 PAGES, DBS 14365 5556 2.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium NRXN1 ENSG00000179915 autism spectrum disorder EFO_0003756 1.6e-05 1.6 -5 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium TBL1XR1 ENSG00000177565 autism spectrum disorder EFO_0003756 2.52e-05 2.52 -5 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium MYT1L ENSG00000186487 autism spectrum disorder EFO_0003756 3.66e-05 3.66 -5 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium BCL11A ENSG00000119866 autism spectrum disorder EFO_0003756 3.77e-05 3.77 -5 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium RORB ENSG00000198963 autism spectrum disorder EFO_0003756 5.43e-05 5.43 -5 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium RAI1 ENSG00000108557 autism spectrum disorder EFO_0003756 5.49e-05 5.49 -5 PAGES, DBS 14365 5556 3.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium DYNC1H1 ENSG00000197102 autism spectrum disorder EFO_0003756 5.83e-05 5.83 -5 PAGES, DBS 14365 5556 7.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium DPYSL2 ENSG00000092964 autism spectrum disorder EFO_0003756 7.84e-05 7.84 -5 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium AP2S1 ENSG00000042753 autism spectrum disorder EFO_0003756 9.89e-05 9.89 -5 PAGES, DBS 14365 5556 2.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium KMT2C ENSG00000055609 autism spectrum disorder EFO_0003756 9.89e-05 9.89 -5 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium PAX5 ENSG00000196092 autism spectrum disorder EFO_0003756 0.000106 1.06 -4 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium MKX ENSG00000150051 autism spectrum disorder EFO_0003756 0.000146 1.46 -4 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium GABRB3 ENSG00000166206 autism spectrum disorder EFO_0003756 0.000151 1.51 -4 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium SIN3A ENSG00000169375 autism spectrum disorder EFO_0003756 0.00016 1.6 -4 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium MBD5 ENSG00000204406 autism spectrum disorder EFO_0003756 0.000177 1.77 -4 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium MAP1A ENSG00000166963 autism spectrum disorder EFO_0003756 0.000178 1.78 -4 PAGES, DBS 14365 5556 7.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium STXBP1 ENSG00000136854 autism spectrum disorder EFO_0003756 0.000181 1.81 -4 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium CELF4 ENSG00000101489 autism spectrum disorder EFO_0003756 0.000185 1.85 -4 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium PHF12 ENSG00000109118 autism spectrum disorder EFO_0003756 0.000207 2.07 -4 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium TBR1 ENSG00000136535 autism spectrum disorder EFO_0003756 0.00028 2.8 -4 PAGES, DBS 14365 5556 2.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium PPP2R5D ENSG00000112640 autism spectrum disorder EFO_0003756 0.000295 2.95 -4 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium TM9SF4 ENSG00000101337 autism spectrum disorder EFO_0003756 0.000359 3.59 -4 PAGES, DBS 14365 5556 4.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium PHF21A ENSG00000135365 autism spectrum disorder EFO_0003756 0.000416 4.16 -4 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium PRR12 ENSG00000126464 autism spectrum disorder EFO_0003756 0.000438 4.38 -4 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium SKI ENSG00000157933 autism spectrum disorder EFO_0003756 0.00045 4.5 -4 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium ASXL3 ENSG00000141431 autism spectrum disorder EFO_0003756 0.00051 5.1 -4 PAGES, DBS 14365 5556 4.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium SPAST ENSG00000021574 autism spectrum disorder EFO_0003756 0.000516 5.16 -4 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium SMARCC2 ENSG00000139613 autism spectrum disorder EFO_0003756 0.000517 5.17 -4 PAGES, DBS 14365 5556 2.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium TRIP12 ENSG00000153827 autism spectrum disorder EFO_0003756 0.000521 5.21 -4 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium CREBBP ENSG00000005339 autism spectrum disorder EFO_0003756 0.000526 5.26 -4 PAGES, DBS 14365 5556 2.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium TCF4 ENSG00000196628 autism spectrum disorder EFO_0003756 0.000532 5.32 -4 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium CACNA1E ENSG00000198216 autism spectrum disorder EFO_0003756 0.000674 6.74 -4 PAGES, DBS 14365 5556 3.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium GNAI1 ENSG00000127955 autism spectrum disorder EFO_0003756 0.000717 7.17 -4 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium TCF20 ENSG00000100207 autism spectrum disorder EFO_0003756 0.000738 7.38 -4 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium FOXP2 ENSG00000128573 autism spectrum disorder EFO_0003756 0.000745 7.45 -4 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium NSD1 ENSG00000165671 autism spectrum disorder EFO_0003756 0.000761 7.61 -4 PAGES, DBS 14365 5556 3.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium TCF7L2 ENSG00000148737 autism spectrum disorder EFO_0003756 0.000772 7.72 -4 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium LDB1 ENSG00000198728 autism spectrum disorder EFO_0003756 0.000881 8.81 -4 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium EIF3G ENSG00000130811 autism spectrum disorder EFO_0003756 0.000916 9.16 -4 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium PHF2 ENSG00000197724 autism spectrum disorder EFO_0003756 0.000984 9.84 -4 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium KIAA0232 ENSG00000170871 autism spectrum disorder EFO_0003756 0.00105 1.05 -3 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium VEZF1 ENSG00000136451 autism spectrum disorder EFO_0003756 0.00109 1.09 -3 PAGES, DBS 14365 5556 3.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium GFAP ENSG00000131095 autism spectrum disorder EFO_0003756 5.43e-05 5.43 -5 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium IRF2BPL ENSG00000119669 autism spectrum disorder EFO_0003756 0.00114 1.14 -3 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium ZMYND8 ENSG00000101040 autism spectrum disorder EFO_0003756 0.00114 1.14 -3 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium SATB1 ENSG00000182568 autism spectrum disorder EFO_0003756 0.00119 1.19 -3 PAGES, DBS 14365 5556 3.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium RFX3 ENSG00000080298 autism spectrum disorder EFO_0003756 0.00124 1.24 -3 PAGES, DBS 14365 5556 2.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium SCN1A ENSG00000144285 autism spectrum disorder EFO_0003756 0.00125 1.25 -3 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium PPP5C ENSG00000011485 autism spectrum disorder EFO_0003756 0.00134 1.34 -3 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium TRIM23 ENSG00000113595 autism spectrum disorder EFO_0003756 0.000138 1.38 -4 PAGES, DBS 14365 5556 3.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium TRAF7 ENSG00000131653 autism spectrum disorder EFO_0003756 0.000456 4.56 -4 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium ELAVL3 ENSG00000196361 autism spectrum disorder EFO_0003756 0.000514 5.14 -4 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium GRIA2 ENSG00000120251 autism spectrum disorder EFO_0003756 0.00179 1.79 -3 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium LRRC4C ENSG00000148948 autism spectrum disorder EFO_0003756 0.0018 1.8 -3 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium CACNA2D3 ENSG00000157445 autism spectrum disorder EFO_0003756 0.00182 1.82 -3 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium NUP155 ENSG00000113569 autism spectrum disorder EFO_0003756 0.00187 1.87 -3 PAGES, DBS 14365 5556 5.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium KMT2E ENSG00000005483 autism spectrum disorder EFO_0003756 0.00193 1.93 -3 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium NR3C2 ENSG00000151623 autism spectrum disorder EFO_0003756 0.00197 1.97 -3 PAGES, DBS 14365 5556 3.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium NACC1 ENSG00000160877 autism spectrum disorder EFO_0003756 0.00199 1.99 -3 PAGES, DBS 14365 5556 2.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium PTK7 ENSG00000112655 autism spectrum disorder EFO_0003756 0.00207 2.07 -3 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium PPP1R9B ENSG00000108819 autism spectrum disorder EFO_0003756 0.00207 2.07 -3 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium GABRB2 ENSG00000145864 autism spectrum disorder EFO_0003756 0.00218 2.18 -3 PAGES, DBS 14365 5556 2.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium HDLBP ENSG00000115677 autism spectrum disorder EFO_0003756 0.0022 2.2 -3 PAGES, DBS 14365 5556 1.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium TAOK1 ENSG00000160551 autism spectrum disorder EFO_0003756 0.00222 2.22 -3 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium UBR1 ENSG00000159459 autism spectrum disorder EFO_0003756 0.000725 7.25 -3 PAGES, DBS 14365 5556 7.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium TEK ENSG00000120156 autism spectrum disorder EFO_0003756 0.00225 2.25 -3 PAGES, DBS 14365 5556 3.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium KCNMA1 ENSG00000156113 autism spectrum disorder EFO_0003756 0.00234 2.34 -3 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium CORO1A ENSG00000102879 autism spectrum disorder EFO_0003756 0.00234 2.34 -3 PAGES, DBS 14365 5556 0.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium HECTD4 ENSG00000173064 autism spectrum disorder EFO_0003756 0.00245 2.45 -3 PAGES, DBS 14365 5556 5.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium NCOA1 ENSG00000084676 autism spectrum disorder EFO_0003756 0.00251 2.51 -3 PAGES, DBS 14365 5556 2.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org -Autism Sequencing Consortium DIP2A ENSG00000160305 autism spectrum disorder EFO_0003756 0.000859 8.59 -4 PAGES, DBS 14365 5556 2.0 TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +projectId targetFromSource targetFromSourceId diseaseFromSource diseaseFromSourceMappedId resourceScore pValueMantissa pValueExponent oddsRatio ConfidenceIntervalLower ConfidenceIntervalUpper beta sex ancestry ancestryId cohortId studyId studySampleSize studyCases studyCasesWithQualifyingVariants allelicRequirements statisticalMethod statisticalMethodOverview literature url +SCHEMA consortium CACNA1G ENSG00000006283 schizophrenia MONDO_0005090 4.57e-07 4.57 -7 "" "" "" "" "" "" "" "" "" 121570 24248 73.0 "" meta-analysis Meta-analysis of burden tests carried out with PTVs and missense variants (MPC > 2) with a MAF smaller than 0.005% 35396579 https://schema.broadinstitute.org +SCHEMA consortium RB1CC1 ENSG00000023287 schizophrenia MONDO_0005090 6.35e-08 6.35 -8 "" "" "" "" "" "" "" "" "" 121570 24248 42.0 "" meta-analysis Meta-analysis of burden tests carried out with PTVs and missense variants (MPC > 2) with a MAF smaller than 0.005% 35396579 https://schema.broadinstitute.org +SCHEMA consortium CUL1 ENSG00000055130 schizophrenia MONDO_0005090 2.01e-09 2.01 -9 "" "" "" "" "" "" "" "" "" 121570 24248 17.0 "" meta-analysis Meta-analysis of burden tests carried out with PTVs and missense variants (MPC > 2) with a MAF smaller than 0.005% 35396579 https://schema.broadinstitute.org +SCHEMA consortium SETD1A ENSG00000099381 schizophrenia MONDO_0005090 2e-12 2.0 -12 "" "" "" "" "" "" "" "" "" 121570 24248 29.0 "" meta-analysis Meta-analysis of burden tests carried out with PTVs and missense variants (MPC > 2) with a MAF smaller than 0.005% 35396579 https://schema.broadinstitute.org +SCHEMA consortium HERC1 ENSG00000103657 schizophrenia MONDO_0005090 1.26e-06 1.26 -6 "" "" "" "" "" "" "" "" "" 121570 24248 30.0 "" meta-analysis Meta-analysis of burden tests carried out with PTVs and missense variants (MPC > 2) with a MAF smaller than 0.005% 35396579 https://schema.broadinstitute.org +SCHEMA consortium SP4 ENSG00000105866 schizophrenia MONDO_0005090 5.08e-07 5.08 -7 "" "" "" "" "" "" "" "" "" 121570 24248 16.0 "" meta-analysis Meta-analysis of burden tests carried out with PTVs and missense variants (MPC > 2) with a MAF smaller than 0.005% 35396579 https://schema.broadinstitute.org +SCHEMA consortium GRIA3 ENSG00000125675 schizophrenia MONDO_0005090 5.98e-07 5.98 -7 "" "" "" "" "" "" "" "" "" 121570 24248 18.0 "" meta-analysis Meta-analysis of burden tests carried out with PTVs and missense variants (MPC > 2) with a MAF smaller than 0.005% 35396579 https://schema.broadinstitute.org +SCHEMA consortium XPO7 ENSG00000130227 schizophrenia MONDO_0005090 7.18e-09 7.18 -9 "" "" "" "" "" "" "" "" "" 121570 24248 23.0 "" meta-analysis Meta-analysis of burden tests carried out with PTVs and missense variants (MPC > 2) with a MAF smaller than 0.005% 35396579 https://schema.broadinstitute.org +SCHEMA consortium GRIN2A ENSG00000183454 schizophrenia MONDO_0005090 7.37e-07 7.37 -7 "" "" "" "" "" "" "" "" "" 121570 24248 25.0 "" meta-analysis Meta-analysis of burden tests carried out with PTVs and missense variants (MPC > 2) with a MAF smaller than 0.005% 35396579 https://schema.broadinstitute.org +SCHEMA consortium TRIO ENSG00000038382 schizophrenia MONDO_0005090 6.35e-08 6.35 -8 "" "" "" "" "" "" "" "" "" 121570 24248 42.0 "" meta-analysis Meta-analysis of burden tests carried out with PTVs and missense variants (MPC > 2) with a MAF smaller than 0.005% 35396579 https://schema.broadinstitute.org +Epi25 collaborative NEXMIF ENSG00000050030 developmental and epileptic encephalopathy MONDO_0100062 1.56e-06 1.56 -6 "" "" "" "" "" "" "" "" "" 9457 1021 6.0 "" ptv Burden test carried out with PTVs with a MAF smaller than 0.01%. 31327507 https://epi25.broadinstitute.org +Epi25 collaborative SCN1A ENSG00000144285 developmental and epileptic encephalopathy MONDO_0100062 9.93e-06 9.93 -6 "" "" "" "" "" "" "" "" "" 9457 1021 6.0 "" ptv Burden test carried out with PTVs with a MAF smaller than 0.01%. 31327507 https://epi25.broadinstitute.org +OTAR022 LACTB ENSG00000103642 succinylcarnitine measurement EFO_0020020 7.6e-13 7.6 -13 "" "" "" "" "" "" "" INTERVAL "" 3867 3867 "" Autosomal recessive inheritance MLOF-VT Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the variable threshold test. 35568032 "" +OTAR022 ACADS ENSG00000122971 butyrylcarnitine measurement EFO_0020010 2.16e-12 2.16 -12 "" "" "" "" "" "" "" INTERVAL "" 3881 3881 "" Autosomal recessive inheritance MLOF-Burden Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the burden test. 35568032 "" +OTAR022 ABCG5 ENSG00000138075 campesterol measurement EFO_0020008 1.6e-08 1.6 -8 "" "" "" "" "" "" "" INTERVAL "" 2013 2013 "" Autosomal recessive inheritance MLOF-Burden Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the burden test. 35568032 "" +OTAR022 ACY1 ENSG00000243989 N-acetylmethionine measurement EFO_0021427 2.1e-24 2.1 -24 "" "" "" "" "" "" "" INTERVAL "" 3921 3921 "" Autosomal recessive inheritance MLOF-VT Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the variable threshold test. 35568032 "" +OTAR022 ADSL ENSG00000239900 N6-succinyladenosine measurement EFO_0021428 8.3e-11 8.3 -11 "" "" "" "" "" "" "" INTERVAL "" 3686 3686 "" Autosomal recessive inheritance MLOF-Burden Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the burden test. 35568032 "" +OTAR022 CCBL1 ENSG00000286112 indolelactate measurement EFO_0020012 1.2e-08 1.2 -8 "" "" "" "" "" "" "" INTERVAL "" 3924 3924 "" "" MLOF-Burden Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the burden test. 35568032 "" +OTAR022 CERS4 ENSG00000090661 sphingomyelin (d18:1/20:1, d18:2/20:0)* measurement EFO_0010118 6.2e-14 6.2 -14 "" "" "" "" "" "" "" INTERVAL "" 3924 3924 "" "" MLOF-Burden Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the burden test. 35568032 "" +OTAR022 CIC ENSG00000079432 1-(1-enyl-stearoyl)-2- linoleoyl-GPE (P-18:0/18:2)* measurement EFO_0020014 2.2e-08 2.2 -8 "" "" "" "" "" "" "" INTERVAL "" 3922 3922 "" Autosomal dominant inheritance CODING-Burden Burden test carried out with all coding region variants plus untranslated regions (UTRs) and essential splice sites and applying the burden test. 35568032 "" +OTAR022 CR1L ENSG00000197721 X-21444 measurement EFO_0020016 1.8e-08 1.8 -8 "" "" "" "" "" "" "" INTERVAL "" 2283 2283 "" "" CODING-MB Burden test carried out with all coding region variants plus untranslated regions (UTRs) and essential splice sites and applying the Madsen and Browning test. 35568032 "" +OTAR022 DPCR1 ENSG00000168631 2-aminobutyrate measurement EFO_0020017 2.5e-09 2.5 -9 "" "" "" "" "" "" "" INTERVAL "" 3905 3905 "" "" CODING-Burden Burden test carried out with all coding region variants plus untranslated regions (UTRs) and essential splice sites and applying the burden test. 35568032 "" +OTAR022 ERICH6 ENSG00000163645 glycerophosphorylcholine measurement EFO_0020018 1.9e-08 1.9 -8 "" "" "" "" "" "" "" INTERVAL "" 3924 3924 "" "" LOF-VT Burden test carried out with LoF variants predicted as high confidence by LOFTEE with a MAF smaller than 0.1% and applying the variable threshold test. 35568032 "" +OTAR022 IVD ENSG00000128928 isovalerylcarnitine measurement EFO_0020019 1.1e-11 1.1 -11 "" "" "" "" "" "" "" INTERVAL "" 3920 3920 "" "" MLOF-Burden Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the burden test. 35568032 "" +OTAR022 KYNU ENSG00000115919 xanthurenate measurement EFO_0010551 1.4e-09 1.4 -9 "" "" "" "" "" "" "" INTERVAL "" 3829 3829 "" Autosomal recessive inheritance MLOF-Burden Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the burden test. 35568032 "" +OTAR022 NAT8 ENSG00000144035 N-acetylarginine measurement EFO_0021429 8.4e-10 8.4 -10 "" "" "" "" "" "" "" INTERVAL "" 3854 3854 "" "" MLOF-Burden Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the burden test. 35568032 "" +OTAR022 PAH ENSG00000171759 phenylalanine measurement EFO_0005001 1.7e-10 1.7 -10 "" "" "" "" "" "" "" INTERVAL "" 3924 3924 "" Autosomal recessive inheritance MLOF-MB Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the Madsen and Browning test. 35568032 "" +OTAR022 PTER ENSG00000165983 N-acetyl-beta-alanine measurement EFO_0021430 1.9e-14 1.9 -14 "" "" "" "" "" "" "" INTERVAL "" 3899 3899 "" "" MLOF-MB Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the Madsen and Browning test. 35568032 "" +OTAR022 RGS3 ENSG00000138835 stearoyl sphingomyelin (d18:1/18:0) measurement EFO_0010118 1.6e-08 1.6 -8 "" "" "" "" "" "" "" INTERVAL "" 3924 3924 "" "" MLOF-VT Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the variable threshold test. 35568032 "" +OTAR022 SLC16A9 ENSG00000165449 carnitine measurement EFO_0010118 9.5e-09 9.5 -9 "" "" "" "" "" "" "" INTERVAL "" 3920 3920 "" "" MLOF-VT Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the variable threshold test. 35568032 "" +OTAR022 NPL ENSG00000135838 N-acetylneuraminate measurement EFO_0020022 3.3e-09 3.3 -9 "" "" "" "" "" "" "" INTERVAL "" 3881 3881 "" "" MLOF-Burden Burden test carried out with LoF and missense variants with a MAF smaller than 0.1% and applying the burden test. 35568032 "" +OTAR022 SLC25A15 ENSG00000102743 X-15728 measurement EFO_0020024 4.8e-09 4.8 -9 "" "" "" "" "" "" "" INTERVAL "" 3596 3596 "" Autosomal recessive inheritance CODING-Burden Burden test carried out with all coding region variants plus untranslated regions (UTRs) and essential splice sites and applying the burden test. 35568032 "" +OTAR022 SLC5A10 ENSG00000154025 1,5-anhydroglucitol (1,5-AG) measurement EFO_0008009 2e-11 2.0 -11 "" "" "" "" "" "" "" INTERVAL "" 3924 3924 "" "" LOF-Burden Burden test carried out with LoF variants predicted as high confidence by LOFTEE with a MAF smaller than 0.1% and applying the burden test. 35568032 "" +"" PKD1 ENSG00000008710 chronic kidney disease EFO_0021433 1.5999999999999999e-55 1.6 -55 29.45 1.5 4.8 "" "" "" "" CUMC, AURORA "" 10125 562 66.0 Dominant/multiple piv-mendelian-all_dom_ultrarare_OO Burden test carried out with PTV,missense variants and in-frame indels with a MAF smaller than 0%. 31085678 "" +"" PKD2 ENSG00000118762 chronic kidney disease EFO_0021433 5.58e-26 5.58 -26 352.0 56.0 13164.0 "" "" "" "" CUMC, AURORA "" 10125 562 20.0 Dominant/multiple piv-mendelian-all_dom_rare_LOF Burden test carried out with PTV with a MAF smaller than 0.1%. 31085678 "" +"" COL4A5 ENSG00000188153 chronic kidney disease EFO_0021433 4.7e-12 4.7 -12 155.0 21.0 6512.0 "" "" "" "" CUMC, AURORA "" 10125 562 9.0 X-linked dominant/multiple piv-mendelian-all_dom_rare_LOF Burden test carried out with PTV with a MAF smaller than 0.1%. 31085678 "" +Autism Sequencing Consortium CHD8 ENSG00000100888 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 2.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium SCN2A ENSG00000136531 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 3.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium SYNGAP1 ENSG00000197283 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 4.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium ADNP ENSG00000101126 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 3.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium FOXP1 ENSG00000114861 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium POGZ ENSG00000143442 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 6.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium ARID1B ENSG00000049618 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 2.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium SUV420H1 ENSG00000110066 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium DYRK1A ENSG00000157540 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 3.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium SLC6A1 ENSG00000157103 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium GRIN2B ENSG00000273079 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 6.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium PTEN ENSG00000171862 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium SHANK3 ENSG00000251322 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 2.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium MED13L ENSG00000123066 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium GIGYF1 ENSG00000146830 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 6.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium CHD2 ENSG00000173575 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 2.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium ANKRD11 ENSG00000167522 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 3.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium ANK2 ENSG00000145362 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 8.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium ASH1L ENSG00000116539 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium TLK2 ENSG00000146872 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium DNMT3A ENSG00000119772 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium DEAF1 ENSG00000177030 autism spectrum disorder EFO_0003756 2.86e-07 2.86 -7 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium CTNNB1 ENSG00000168036 autism spectrum disorder EFO_0003756 5.72e-07 5.72 -7 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 2.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium KDM6B ENSG00000132510 autism spectrum disorder EFO_0003756 1.72e-06 1.72 -6 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium DSCAM ENSG00000171587 autism spectrum disorder EFO_0003756 1.72e-06 1.72 -6 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium SETD5 ENSG00000168137 autism spectrum disorder EFO_0003756 4e-06 4.0 -6 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 3.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium KCNQ3 ENSG00000184156 autism spectrum disorder EFO_0003756 4.58e-06 4.58 -6 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium SRPR ENSG00000182934 autism spectrum disorder EFO_0003756 4.58e-06 4.58 -6 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 2.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium KDM5B ENSG00000117139 autism spectrum disorder EFO_0003756 1.43e-07 1.43 -7 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 9.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium WAC ENSG00000095787 autism spectrum disorder EFO_0003756 6.29e-06 6.29 -6 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium SHANK2 ENSG00000162105 autism spectrum disorder EFO_0003756 1.54e-05 1.54 -5 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 2.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium NRXN1 ENSG00000179915 autism spectrum disorder EFO_0003756 1.6e-05 1.6 -5 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium TBL1XR1 ENSG00000177565 autism spectrum disorder EFO_0003756 2.52e-05 2.52 -5 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium MYT1L ENSG00000186487 autism spectrum disorder EFO_0003756 3.66e-05 3.66 -5 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium BCL11A ENSG00000119866 autism spectrum disorder EFO_0003756 3.77e-05 3.77 -5 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium RORB ENSG00000198963 autism spectrum disorder EFO_0003756 5.43e-05 5.43 -5 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium RAI1 ENSG00000108557 autism spectrum disorder EFO_0003756 5.49e-05 5.49 -5 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 3.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium DYNC1H1 ENSG00000197102 autism spectrum disorder EFO_0003756 5.83e-05 5.83 -5 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 7.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium DPYSL2 ENSG00000092964 autism spectrum disorder EFO_0003756 7.84e-05 7.84 -5 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium AP2S1 ENSG00000042753 autism spectrum disorder EFO_0003756 9.89e-05 9.89 -5 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 2.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium KMT2C ENSG00000055609 autism spectrum disorder EFO_0003756 9.89e-05 9.89 -5 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium PAX5 ENSG00000196092 autism spectrum disorder EFO_0003756 0.000106 1.06 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium MKX ENSG00000150051 autism spectrum disorder EFO_0003756 0.000146 1.46 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium GABRB3 ENSG00000166206 autism spectrum disorder EFO_0003756 0.000151 1.51 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium SIN3A ENSG00000169375 autism spectrum disorder EFO_0003756 0.00016 1.6 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium MBD5 ENSG00000204406 autism spectrum disorder EFO_0003756 0.000177 1.77 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium MAP1A ENSG00000166963 autism spectrum disorder EFO_0003756 0.000178 1.78 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 7.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium STXBP1 ENSG00000136854 autism spectrum disorder EFO_0003756 0.000181 1.81 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium CELF4 ENSG00000101489 autism spectrum disorder EFO_0003756 0.000185 1.85 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium PHF12 ENSG00000109118 autism spectrum disorder EFO_0003756 0.000207 2.07 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium TBR1 ENSG00000136535 autism spectrum disorder EFO_0003756 0.00028 2.8 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 2.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium PPP2R5D ENSG00000112640 autism spectrum disorder EFO_0003756 0.000295 2.95 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium TM9SF4 ENSG00000101337 autism spectrum disorder EFO_0003756 0.000359 3.59 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 4.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium PHF21A ENSG00000135365 autism spectrum disorder EFO_0003756 0.000416 4.16 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium PRR12 ENSG00000126464 autism spectrum disorder EFO_0003756 0.000438 4.38 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium SKI ENSG00000157933 autism spectrum disorder EFO_0003756 0.00045 4.5 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium ASXL3 ENSG00000141431 autism spectrum disorder EFO_0003756 0.00051 5.1 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 4.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium SPAST ENSG00000021574 autism spectrum disorder EFO_0003756 0.000516 5.16 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium SMARCC2 ENSG00000139613 autism spectrum disorder EFO_0003756 0.000517 5.17 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 2.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium TRIP12 ENSG00000153827 autism spectrum disorder EFO_0003756 0.000521 5.21 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium CREBBP ENSG00000005339 autism spectrum disorder EFO_0003756 0.000526 5.26 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 2.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium TCF4 ENSG00000196628 autism spectrum disorder EFO_0003756 0.000532 5.32 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium CACNA1E ENSG00000198216 autism spectrum disorder EFO_0003756 0.000674 6.74 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 3.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium GNAI1 ENSG00000127955 autism spectrum disorder EFO_0003756 0.000717 7.17 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium TCF20 ENSG00000100207 autism spectrum disorder EFO_0003756 0.000738 7.38 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium FOXP2 ENSG00000128573 autism spectrum disorder EFO_0003756 0.000745 7.45 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium NSD1 ENSG00000165671 autism spectrum disorder EFO_0003756 0.000761 7.61 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 3.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium TCF7L2 ENSG00000148737 autism spectrum disorder EFO_0003756 0.000772 7.72 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium LDB1 ENSG00000198728 autism spectrum disorder EFO_0003756 0.000881 8.81 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium EIF3G ENSG00000130811 autism spectrum disorder EFO_0003756 0.000916 9.16 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium PHF2 ENSG00000197724 autism spectrum disorder EFO_0003756 0.000984 9.84 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium KIAA0232 ENSG00000170871 autism spectrum disorder EFO_0003756 0.00105 1.05 -3 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium VEZF1 ENSG00000136451 autism spectrum disorder EFO_0003756 0.00109 1.09 -3 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 3.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium GFAP ENSG00000131095 autism spectrum disorder EFO_0003756 5.43e-05 5.43 -5 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium IRF2BPL ENSG00000119669 autism spectrum disorder EFO_0003756 0.00114 1.14 -3 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium ZMYND8 ENSG00000101040 autism spectrum disorder EFO_0003756 0.00114 1.14 -3 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium SATB1 ENSG00000182568 autism spectrum disorder EFO_0003756 0.00119 1.19 -3 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 3.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium RFX3 ENSG00000080298 autism spectrum disorder EFO_0003756 0.00124 1.24 -3 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 2.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium SCN1A ENSG00000144285 autism spectrum disorder EFO_0003756 0.00125 1.25 -3 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium PPP5C ENSG00000011485 autism spectrum disorder EFO_0003756 0.00134 1.34 -3 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium TRIM23 ENSG00000113595 autism spectrum disorder EFO_0003756 0.000138 1.38 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 3.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium TRAF7 ENSG00000131653 autism spectrum disorder EFO_0003756 0.000456 4.56 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium ELAVL3 ENSG00000196361 autism spectrum disorder EFO_0003756 0.000514 5.14 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium GRIA2 ENSG00000120251 autism spectrum disorder EFO_0003756 0.00179 1.79 -3 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium LRRC4C ENSG00000148948 autism spectrum disorder EFO_0003756 0.0018 1.8 -3 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium CACNA2D3 ENSG00000157445 autism spectrum disorder EFO_0003756 0.00182 1.82 -3 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium NUP155 ENSG00000113569 autism spectrum disorder EFO_0003756 0.00187 1.87 -3 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 5.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium KMT2E ENSG00000005483 autism spectrum disorder EFO_0003756 0.00193 1.93 -3 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium NR3C2 ENSG00000151623 autism spectrum disorder EFO_0003756 0.00197 1.97 -3 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 3.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium NACC1 ENSG00000160877 autism spectrum disorder EFO_0003756 0.00199 1.99 -3 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 2.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium PTK7 ENSG00000112655 autism spectrum disorder EFO_0003756 0.00207 2.07 -3 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium PPP1R9B ENSG00000108819 autism spectrum disorder EFO_0003756 0.00207 2.07 -3 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium GABRB2 ENSG00000145864 autism spectrum disorder EFO_0003756 0.00218 2.18 -3 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 2.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium HDLBP ENSG00000115677 autism spectrum disorder EFO_0003756 0.0022 2.2 -3 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 1.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium TAOK1 ENSG00000160551 autism spectrum disorder EFO_0003756 0.00222 2.22 -3 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium UBR1 ENSG00000159459 autism spectrum disorder EFO_0003756 0.000725 7.25 -3 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 7.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium TEK ENSG00000120156 autism spectrum disorder EFO_0003756 0.00225 2.25 -3 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 3.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium KCNMA1 ENSG00000156113 autism spectrum disorder EFO_0003756 0.00234 2.34 -3 "" "" "" "" "" 5.00E-03 "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium CORO1A ENSG00000102879 autism spectrum disorder EFO_0003756 0.00234 2.34 -3 "" "" "" "" "" 5.00E-03 "" PAGES, DBS "" 14365 5556 0.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium HECTD4 ENSG00000173064 autism spectrum disorder EFO_0003756 0.00245 2.45 -3 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 5.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium NCOA1 ENSG00000084676 autism spectrum disorder EFO_0003756 0.00251 2.51 -3 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 2.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +Autism Sequencing Consortium DIP2A ENSG00000160305 autism spectrum disorder EFO_0003756 0.000859 8.59 -4 "" "" "" "" "" "" "" PAGES, DBS "" 14365 5556 2.0 "" TADA Burden test carried out with PTV and missense variants (MPC > 2) with a MAF smaller than 0.001%. 31981491 https://asc.broadinstitute.org +"" GRIN2B ENSG00000273079 autism spectrum disorder EFO_0003756 3.33E-16 3.33 -16 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" DNMT3A ENSG00000119772 autism spectrum disorder EFO_0003756 5.55E-16 5.55 -16 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" ARID1B ENSG00000049618 autism spectrum disorder EFO_0003756 1.11E-15 1.11 -15 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" BRSK2 ENSG00000174672 autism spectrum disorder EFO_0003756 1.55E-15 1.55 -15 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" CHD2 ENSG00000173575 autism spectrum disorder EFO_0003756 1.55E-15 1.55 -15 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" ASH1L ENSG00000116539 autism spectrum disorder EFO_0003756 9.73E-14 9.73 -14 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" DYNC1H1 ENSG00000197102 autism spectrum disorder EFO_0003756 2.55E-13 2.55 -13 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" KMT5B ENSG00000110066 autism spectrum disorder EFO_0003756 2.99E-13 2.99 -13 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" SLC6A1 ENSG00000157103 autism spectrum disorder EFO_0003756 4.27E-13 4.27 -13 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" WDFY3 ENSG00000163625 autism spectrum disorder EFO_0003756 4.48E-13 4.48 -13 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" KDM6B ENSG00000132510 autism spectrum disorder EFO_0003756 6.89E-13 6.89 -13 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" FOXP1 ENSG00000114861 autism spectrum disorder EFO_0003756 1.06E-12 1.06 -12 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" DYRK1A ENSG00000157540 autism spectrum disorder EFO_0003756 5.69E-12 5.69 -12 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" ANKRD11 ENSG00000167522 autism spectrum disorder EFO_0003756 7.32E-12 7.32 -12 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" CUL3 ENSG00000036257 autism spectrum disorder EFO_0003756 1.75E-11 1.75 -11 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" NF1 ENSG00000196712 autism spectrum disorder EFO_0003756 1.90E-11 1.9 -11 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" RAI1 ENSG00000108557 autism spectrum disorder EFO_0003756 1.56E-10 1.56 -10 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" TLK2 ENSG00000146872 autism spectrum disorder EFO_0003756 3.09E-10 3.09 -10 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" TBR1 ENSG00000136535 autism spectrum disorder EFO_0003756 4.54E-10 4.54 -10 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" RORB ENSG00000198963 autism spectrum disorder EFO_0003756 8.46E-10 8.46 -10 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" CTCF ENSG00000102974 autism spectrum disorder EFO_0003756 9.34E-10 9.34 -10 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" SPTBN1 ENSG00000115306 autism spectrum disorder EFO_0003756 3.51E-09 3.51 -9 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" SRCAP ENSG00000080603 autism spectrum disorder EFO_0003756 4.16E-09 4.16 -9 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" MYT1L ENSG00000186487 autism spectrum disorder EFO_0003756 4.17E-09 4.17 -9 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" MARK2 ENSG00000072518 autism spectrum disorder EFO_0003756 4.23E-09 4.23 -9 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" ASXL3 ENSG00000141431 autism spectrum disorder EFO_0003756 5.44E-09 5.44 -9 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" ANK2 ENSG00000145362 autism spectrum disorder EFO_0003756 5.73E-09 5.73 -9 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" STXBP1 ENSG00000136854 autism spectrum disorder EFO_0003756 7.66E-09 7.66 -9 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" TBL1XR1 ENSG00000177565 autism spectrum disorder EFO_0003756 8.68E-09 8.68 -9 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" NAV3 ENSG00000067798 autism spectrum disorder EFO_0003756 1.15E-08 1.15 -8 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" MED13 ENSG00000108510 autism spectrum disorder EFO_0003756 1.31E-08 1.31 -8 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" TCF20 ENSG00000100207 autism spectrum disorder EFO_0003756 1.70E-08 1.7 -8 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" KMT2C ENSG00000055609 autism spectrum disorder EFO_0003756 2.78E-08 2.78 -8 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" AUTS2 ENSG00000158321 autism spectrum disorder EFO_0003756 5.19E-08 5.19 -8 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" TAOK1 ENSG00000160551 autism spectrum disorder EFO_0003756 9.91E-08 9.91 -8 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" TSC2 ENSG00000103197 autism spectrum disorder EFO_0003756 9.99E-08 9.99 -8 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" MED13L ENSG00000123066 autism spectrum disorder EFO_0003756 1.19E-07 1.1 -7 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" KCNB1 ENSG00000158445 autism spectrum disorder EFO_0003756 1.42E-07 1.42 -7 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" DEAF1 ENSG00000177030 autism spectrum disorder EFO_0003756 1.43E-07 1.43 -7 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" MBD5 ENSG00000204406 autism spectrum disorder EFO_0003756 1.62E-07 1.62 -7 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" SCAF1 ENSG00000126461 autism spectrum disorder EFO_0003756 2.06E-07 2.06 -7 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" HNRNPUL2 ENSG00000214753 autism spectrum disorder EFO_0003756 2.69E-07 2.69 -7 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" TCF4 ENSG00000196628 autism spectrum disorder EFO_0003756 3.16E-07 3.16 -7 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" NAA15 ENSG00000164134 autism spectrum disorder EFO_0003756 3.72E-07 3.72 -7 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" SHANK2 ENSG00000162105 autism spectrum disorder EFO_0003756 4.02E-07 4.02 -7 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" ITSN1 ENSG00000205726 autism spectrum disorder EFO_0003756 4.25E-07 4.25 -7 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" SMARCC2 ENSG00000139613 autism spectrum disorder EFO_0003756 4.38E-07 4.38 -7 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" CNOT3 ENSG00000088038 autism spectrum disorder EFO_0003756 6.30E-07 6.3 -7 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" PHF21A ENSG00000135365 autism spectrum disorder EFO_0003756 1.01E-06 1.01 -6 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" EP300 ENSG00000100393 autism spectrum disorder EFO_0003756 1.12E-06 1.12 -6 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" SETD5 ENSG00000168137 autism spectrum disorder EFO_0003756 1.17E-06 1.17 -6 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" EHMT1 ENSG00000181090 autism spectrum disorder EFO_0003756 1.31E-06 1.31 -6 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" CSNK2B ENSG00000204435 autism spectrum disorder EFO_0003756 1.62E-06 1.62 -6 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" RFX3 ENSG00000080298 autism spectrum disorder EFO_0003756 1.86E-06 1.86 -6 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" DSCAM ENSG00000171587 autism spectrum disorder EFO_0003756 2.24E-06 2.24 -6 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" TRIP12 ENSG00000153827 autism spectrum disorder EFO_0003756 2.30E-06 2.3 -6 "" "" "" "" "" "" "" SPARK, ASC, MSSNG, SSC "" 259896 23896 "" "" meta-analysis Meta-analysis of burden tests carried out with missense de novo and LoF variants with a MAF smaller than 0.005% 35982159 "" +"" ACVR1C ENSG00000123612 BMI-adjusted waist-hip ratio EFO_0007788 3.10E-20 3.1 -20 "" -0.19 -0.12 -0.16 women, men "" "" UK Biobank, MDCS, MCPS "" 618375 83873 3059 "" pLOF plus deleterious missense, AAF<1% Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 1%. 35999217 "" +"" CALCRL ENSG00000064989 BMI-adjusted waist-hip ratio EFO_0007788 1.50E-10 1.5 -10 "" -0.11 -0.06 -0.087 women, men "" "" UK Biobank, MDCS, MCPS "" 618375 83873 4734 "" pLOF plus deleterious missense, AAF<1% Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 1%. 35999217 "" +"" PPARG ENSG00000132170 BMI-adjusted waist-hip ratio EFO_0007788 1.30E-10 1.3 -10 "" 0.089 0.18 0.14 women, men "" "" UK Biobank, MDCS, MCPS "" 618375 83873 1519 "" pLOF plus deleterious missense, AAF<1% Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 1%. 35999217 "" +"" STAB1 ENSG00000010327 BMI-adjusted waist-hip ratio EFO_0007788 2.80E-10 2.8 -10 "" -0.086 -0.045 -0.065 women, men "" "" UK Biobank, MDCS, MCPS "" 618375 83873 8270 "" pLOF plus deleterious missense, AAF<1% Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 1%. 35999217 "" +"" PLXND1 ENSG00000004399 BMI-adjusted waist-hip ratio EFO_0007788 7.30E-08 7.3 -8 "" -0.042 -0.019 -0.03 women, men "" "" UK Biobank, MDCS, MCPS "" 618375 83873 28422 "" pLOF plus deleterious missense, AAF<0.1% Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 35999217 "" +"" CD36 ENSG00000135218 BMI-adjusted waist-hip ratio EFO_0007788 6.80E-08 6.8 -8 "" 0.031 0.066 0.048 women, men "" "" UK Biobank, MDCS, MCPS "" 618375 83873 11156 "" pLOF plus deleterious missense, AAF<1% Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 1%. 35999217 "" +"" ABCA1 ENSG00000165029 BMI-adjusted waist-hip ratio EFO_0007788 5.10E-10 5.1 -10 "" -0.074 -0.038 -0.056 women, men "" "" UK Biobank, MDCS, MCPS "" 618375 83873 10685 "" pLOF plus deleterious missense, AAF<1% Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 1%. 35999217 "" +"" AIFM2 ENSG00000042286 BMI-adjusted waist-hip ratio EFO_0007788 2.10E-12 2.1 -12 "" 0.036 0.063 0.049 women, men "" "" UK Biobank, MDCS, MCPS "" 618375 83873 17833 "" pLOF plus deleterious missense, AAF<1% Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 1%. 35999217 "" +"" PDE3B ENSG00000152270 BMI-adjusted waist-hip ratio EFO_0007788 1.40E-22 1.4 -22 "" -0.22 -0.15 -0.18 women, men "" "" UK Biobank, MDCS, MCPS "" 618375 83873 2459 "" pLOF plus deleterious missense, AAF<0.1% Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 35999217 "" +"" INHBE ENSG00000139269 BMI-adjusted waist-hip ratio EFO_0007788 1.80E-09 1.8 -9 "" -0.22 -0.11 -0.17 women, men "" "" UK Biobank, MDCS, MCPS "" 618375 83873 1097 "" pLOF; AAF < 1% Burden test carried out with pLOF variants with a MAF smaller than 1%. 35999217 "" +"" PLIN1 ENSG00000166819 BMI-adjusted waist-hip ratio EFO_0007788 4.60E-32 4.6 -32 "" -0.23 -0.17 -0.2 women, men "" "" UK Biobank, MDCS, MCPS "" 618375 83873 3027 "" pLOF plus deleterious missense, AAF<1% Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 1%. 35999217 "" +"" ANKRD12 ENSG00000101745 BMI-adjusted waist-hip ratio EFO_0007788 1.60E-11 1.6 -11 "" 0.22 0.4 0.31 women, men "" "" UK Biobank, MDCS, MCPS "" 618375 83873 412 "" pLOF; AAF < 1% Burden test carried out with pLOF variants with a MAF smaller than 1%. 35999217 "" +"" PLIN4 ENSG00000167676 BMI-adjusted waist-hip ratio EFO_0007788 3.70E-13 3.7 -13 "" 0.079 0.14 0.11 women, men "" "" UK Biobank, MDCS, MCPS "" 618375 83873 3883 "" pLOF; AAF < 1% Burden test carried out with pLOF variants with a MAF smaller than 1%. 35999217 "" +"" INSR ENSG00000171105 BMI-adjusted waist-hip ratio EFO_0007788 1.20E-13 1.2 -13 "" -0.094 -0.055 -0.075 women, men "" "" UK Biobank, MDCS, MCPS "" 618375 83873 8552 "" pLOF plus deleterious missense, AAF<1% Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 1%. 35999217 "" +"" KEAP1 ENSG00000079999 BMI-adjusted waist-hip ratio EFO_0007788 3.40E-14 3.4 -14 "" 0.066 0.11 0.089 women, men "" "" UK Biobank, MDCS, MCPS "" 618375 83873 6277 "" pLOF plus deleterious missense, AAF<1% Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 1%. 35999217 "" +"" SLC5A3 ENSG00000198743 BMI-adjusted waist-hip ratio EFO_0007788 4.70E-10 4.7 -10 "" 0.041 0.078 0.06 women, men "" "" UK Biobank, MDCS, MCPS "" 618375 83873 9472 "" pLOF plus deleterious missense, AAF<1% Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 1%. 35999217 "" +"" FGF1 ENSG00000113578 BMI-adjusted waist-hip ratio EFO_0007788 2.80E-07 2.8 -7 "" -0.11 -0.051 -0.083 women "" "" UK Biobank, MDCS, MCPS "" 618375 83873 3189 "" pLOF plus deleterious missense, AAF<1% Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 1%. 35999217 "" +"" MSR1 ENSG00000038945 BMI-adjusted waist-hip ratio EFO_0007788 9.80E-08 9.8 -8 "" -0.096 -0.045 -0.071 women "" "" UK Biobank, MDCS, MCPS "" 618375 83873 4803 "" pLOF plus deleterious missense, AAF<1% Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 1%. 35999217 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 7.599999999999999e-24 7.6 -24 "" -2.648 -1.785 -2.217 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 19.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MYOC Eye problems disorders - Glaucoma (6148) EFO_0000516 3.9e-19 3.9 -19 4.109 oddsRatioConfidenceIntervalLower 5.602 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079431 37798 6848 89.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" THBS4 3mm weak meridian right (5099) EFO_0004731 1.52e-11 1.52 -11 "" -0.201 -0.11 -0.155 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 1531.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MYO6 Hearing difficulty problems - Yes (2247) EFO_0007616 3.86e-15 3.86 -15 1.394 oddsRatioConfidenceIntervalLower 1.514 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 936.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 3mm weak meridian left (5096) EFO_0004731 1.29e-18 1.29 -18 "" 0.587 0.923 0.755 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 109.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MEPE Heel quantitative ultrasound index QUI direct entry left (4104) EFO_0004514 5.79e-22 5.79 -22 "" -0.375 -0.248 -0.312 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079151 166283 166283 747.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC ICD10 Z83.7: Family history of diseases of the digestive system EFO_0000493 4.45e-12 4.45 -12 15.69 oddsRatioConfidenceIntervalLower 34.21 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081342 387433 947 13.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" ATM ICD10 C77: Secondary and unspecified malignant neoplasm of lymph nodes MONDO_0024339 1e-13 10.0 -14 3.072 oddsRatioConfidenceIntervalLower 4.128 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079620 387882 7019 64.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CGNL1 Cystatin C (30720) EFO_0004617 2.6e-20 2.6 -20 "" 0.416 0.641 0.529 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 206.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ALB LDL direct (30780) EFO_0004611 3.28e-14 3.28 -14 "" 0.43 0.73 0.58 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 147.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK Glucose (30740) EFO_0004468 2.08e-22 2.08 -22 "" 0.951 1.43 1.191 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 62.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" ADAMTS10 Standing height (50) EFO_0004339 3.32e-14 3.32 -14 "" -0.556 -0.328 -0.442 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 98.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 Illnesses of mother - Breast cancer (20110) EFO_0009640 5.86e-19 5.86 -19 2.067 oddsRatioConfidenceIntervalLower 2.426 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 212.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LRP5 Heel bone mineral density BMD T score automated (78) EFO_0009270 9.82e-14 9.82 -14 "" -0.76 -0.443 -0.601 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 120.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean corpuscular volume (30040) EFO_0004526 4.71e-17 4.71 -17 "" -2.76 -1.715 -2.237 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MIP ICD10 H26.9: Unspecified cataract MONDO_0005129 5.410000000000001e-27 5.41 -27 7.182 oddsRatioConfidenceIntervalLower 10.285 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079892 387427 17761 60.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KDM5B IGF 1 (30770) EFO_0004627 1.92e-12 1.92 -12 "" -0.258 -0.145 -0.202 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 982.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 ICD10 C78: Secondary malignant neoplasm of respiratory and digestive organs EFO_0009812 2.86e-21 2.86 -21 2.755 oddsRatioConfidenceIntervalLower 3.399 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079625 387835 6526 124.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 DD Cancer - Yes (2453) EFO_0000311 9.45e-18 9.45 -18 2.014 oddsRatioConfidenceIntervalLower 2.363 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 215.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CKAP2L Mean platelet thrombocyte volume (30100) EFO_0004584 4.32e-17 4.32 -17 "" -0.302 -0.188 -0.245 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 841.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PAPPA2 IGF 1 (30770) EFO_0004627 1.48e-16 1.48 -16 "" 0.347 0.563 0.455 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 265.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I42.9: Cardiomyopathy, unspecified EFO_0000318 4.78e-19 4.78 -19 7.746 oddsRatioConfidenceIntervalLower 12.148 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079999 387930 681 34.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" B4GALNT3 Alkaline phosphatase (30610) EFO_0004533 4.77e-39 4.77 -39 "" 0.161 0.217 0.189 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 3739.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKLR Immature reticulocyte fraction (30280) EFO_0010700 1.02e-12 1.02 -12 "" 0.066 0.117 0.091 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 5623.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HK1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.36e-13 1.36 -13 "" -0.248 -0.144 -0.196 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 1126.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Arm fat free mass right (23121) EFO_0004995 2.4e-13 2.4 -13 "" 0.24 0.416 0.328 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 157.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APC ICD10 Z90.4: Acquired absence of other specified parts of digestive tract EFO_0000405 8.15e-13 8.15 -13 13.892 oddsRatioConfidenceIntervalLower 28.553 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081392 387855 8508 16.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" GCK TAG ProbableT2D (RGC) MONDO_0005148 1.4199999999999999e-25 1.42 -25 6.118 oddsRatioConfidenceIntervalLower 8.592 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081526 426342 17719 64.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TMPRSS6 Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.440000000000001e-27 5.44 -27 "" 0.407 0.588 0.497 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 400.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GP1BB Platelet crit (30090) EFO_0007985 1.46e-15 1.46 -15 "" -1.202 -0.728 -0.965 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 52.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CD36 Apolipoprotein A (30630) EFO_0004732 4.08e-41 4.08 -41 "" 0.171 0.23 0.201 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 3255.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 Non cancer illness code self reported - other neurological problem/ICD10 G98 EFO_0000618 3.6900000000000004e-31 3.69 -31 10.691 oddsRatioConfidenceIntervalLower 15.95 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077843 329052 1701 47.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TFRC Mean corpuscular haemoglobin (30050) EFO_0004527 6.52e-28 6.52 -28 "" -2.156 -1.501 -1.829 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 28.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" LDLR Apolipoprotein B (30640) EFO_0004615 1.16e-65 1.16 -65 "" 0.345 0.435 0.39 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 1747.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 8.03e-20 8.03 -20 10.366 oddsRatioConfidenceIntervalLower 17.141 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 30.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CALR Platelet crit (30090) EFO_0007985 4.72e-75 4.72 -75 "" 1.698 2.105 1.902 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 71.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SF3B1 Type of Cancer: Chronic lymphocytic leukemia of B-cell type (40006) EFO_0000095 7.96e-14 7.96 -14 18.087 oddsRatioConfidenceIntervalLower 38.657 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079124 74230 571 15.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PIEZO1 Total bilirubin (30840) EFO_0004570 2.76e-19 2.76 -19 "" 0.037 0.057 0.047 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 23803.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PIEZO1 Trunk predicted mass (23130) EFO_0004324 1.88e-19 1.88 -19 "" -0.04 -0.026 -0.033 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 24572.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS17 Impedance of whole body (23106) HP_0000924 5.98e-13 5.98 -13 "" -0.325 -0.186 -0.255 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 394.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" COL8A2 Impedance of leg left (23108) HP_0000924 9.46e-13 9.46 -13 "" 0.245 0.43 0.337 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 322.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" XDH Urate (30880) EFO_0004531 5.53e-12 5.53 -12 "" -0.081 -0.045 -0.063 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 7484.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TSHR Treatment or Medication Code - levothyroxine sodium EFO_0007010 2.5e-12 2.5 -12 2.197 oddsRatioConfidenceIntervalLower 2.738 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078224 320758 19017 115.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TMEM206 Standing height (50) EFO_0004339 6.15e-13 6.15 -13 "" -0.094 -0.054 -0.074 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 3238.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OCA2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 6.55e-26 6.55 -26 0.196 oddsRatioConfidenceIntervalLower 0.266 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 36.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PROS1 VTE PE CC (RGC) EFO_0003827 1.08e-14 1.08 -14 11.017 oddsRatioConfidenceIntervalLower 20.244 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081536 376456 5226 21.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GCK DD DM - Yes (2443) EFO_0000400 3.51e-17 3.51 -17 18.773 oddsRatioConfidenceIntervalLower 37.128 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078949 429739 22058 22.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PKD1 ICD10 Z94: Transplanted organ and tissue status EFO_0002571 6.42e-34 6.42 -34 5.662 oddsRatioConfidenceIntervalLower 7.491 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081418 387906 1305 82.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Non cancer illness code self reported - atrial fibrillation EFO_0000275 2e-15 2.0 -15 2.33 oddsRatioConfidenceIntervalLower 2.871 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077881 331754 3921 120.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CD36 Red blood cell erythrocyte distribution width (30070) EFO_0009188 8.18e-16 8.18 -16 "" 0.196 0.323 0.26 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 826.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A4 Total bilirubin (30840) EFO_0004570 1.98e-14 1.98 -14 "" 0.367 0.62 0.493 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 206.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" XPO1 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 2.16e-11 2.16 -11 41.567 oddsRatioConfidenceIntervalLower 123.78 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 8.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ACAN Leg predicted mass right (23114) EFO_0004302 1.4e-16 1.4 -16 "" -0.747 -0.461 -0.604 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 63.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TSHR Treatment or Medication Code - levothyroxine sodium EFO_0007010 3.45e-14 3.45 -14 3.037 oddsRatioConfidenceIntervalLower 4.048 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078224 320758 19017 75.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ABCB11 Gamma glutamyltransferase (30730) EFO_0004532 1.57e-14 1.57 -14 "" -0.179 -0.106 -0.142 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 2169.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GPLD1 Alkaline phosphatase (30610) EFO_0004533 8.420000000000001e-169 8.42 -169 "" -0.732 -0.635 -0.684 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 1291.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TMPRSS6 Haematocrit percentage (30030) EFO_0004348 8.26e-14 8.26 -14 "" -0.194 -0.113 -0.153 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1412.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SBNO2 Lymphocyte count (30120) EFO_0004587 4.24e-17 4.24 -17 "" 0.401 0.645 0.523 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 228.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" APC ICD10 K31.7: Polyp of stomach and duodenum MONDO_0008277 1.7e-15 1.7 -15 16.091 oddsRatioConfidenceIntervalLower 31.887 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080210 387782 6198 18.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD2 ICD10 Q61: Cystic kidney disease EFO_0008615 1.95e-69 1.95 -69 380.586 oddsRatioConfidenceIntervalLower 737.228 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 34.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS10 Standing height (50) EFO_0004339 3.32e-14 3.32 -14 "" -0.556 -0.328 -0.442 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 98.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF1R Standing height (50) EFO_0004339 1.66e-29 1.66 -29 "" -0.32 -0.225 -0.272 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 577.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ZFAT Trunk fat free mass (23129) EFO_0004995 4.04e-73 4.04 -73 "" 0.112 0.139 0.125 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 6708.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 Reticulocyte count (30250) EFO_0007986 4.82e-26 4.82 -26 "" 1.599 2.328 1.963 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 25.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" SMAD6 3mm strong meridian right (5132) EFO_0004731 1.46e-15 1.46 -15 "" 0.269 0.445 0.357 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079298 103540 103540 404.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANGPTL7 Intra ocular pressure corneal compensated right (5254) EFO_0004695 1.02e-12 1.02 -12 "" -0.204 -0.116 -0.16 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079333 105888 105888 1877.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGF1R Arm fat free mass right (23121) EFO_0004995 6.8e-13 6.8 -13 "" -0.133 -0.076 -0.105 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 1485.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IL17RA Monocyte percentage (30190) EFO_0007989 1.16e-11 1.16 -11 "" -0.61 -0.337 -0.473 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 166.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBA2 Mean corpuscular volume (30040) EFO_0004526 1.13e-20 1.13 -20 "" -1.593 -1.04 -1.317 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 39.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Comparative height size at age 10 - Taller (1697) EFO_0004339 2.49e-30 2.49 -30 1.378 oddsRatioConfidenceIntervalLower 1.455 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 2169.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BTG2 Mean reticulocyte volume (30260) EFO_0010701 1.54e-11 1.54 -11 "" 0.226 0.41 0.318 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 383.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MSH6 Type of Cancer: Malignant neoplasm of endometrium (40006) MONDO_0011962 1.39e-17 1.39 -17 4.381 oddsRatioConfidenceIntervalLower 6.149 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079109 41005 1536 58.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" R3HDM4 High light scatter reticulocyte percentage (30290) EFO_0010700 4.99e-12 4.99 -12 "" 0.345 0.618 0.481 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 181.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" G6PD Glycated haemoglobin HbA1c (30750) EFO_0004541 2.23e-31 2.23 -31 "" -1.073 -0.764 -0.919 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2117 2117 82.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GOT1 Aspartate aminotransferase (30650) EFO_0004736 1.05e-127 1.05 -127 "" -2.209 -1.876 -2.042 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 117.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ABCG2 Urate (30880) EFO_0004531 1.98e-28 1.98 -28 "" 0.141 0.202 0.171 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 2748.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MPO Neutrophil percentage (30200) EFO_0007990 2.86e-19 2.86 -19 "" 0.06 0.093 0.076 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 12702.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGFALS IGF 1 (30770) EFO_0004627 1.86e-45 1.86 -45 "" -0.785 -0.594 -0.69 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 337.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 9.19e-26 9.19 -26 6.965 oddsRatioConfidenceIntervalLower 10.008 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 53.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CALR Immature reticulocyte fraction (30280) EFO_0010700 5.29e-13 5.29 -13 "" 0.604 1.055 0.83 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 69.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SCUBE3 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 8.78e-13 8.78 -13 "" -0.172 -0.098 -0.135 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 396.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NPC1 Monocyte percentage (30190) EFO_0007989 2.06e-12 2.06 -12 "" -0.164 -0.092 -0.128 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 2741.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z51.5: Encounter for palliative care EFO_0004542 1.18e-11 1.18 -11 4.719 oddsRatioConfidenceIntervalLower 7.389 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081283 387892 5496 31.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN ICD10 I50.9: Heart failure, unspecified EFO_0003144 4.03e-13 4.03 -13 5.753 oddsRatioConfidenceIntervalLower 9.23 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080022 387930 2407 29.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" APOB HDL cholesterol (30760) EFO_0004612 5.87e-22 5.87 -22 "" 0.249 0.376 0.312 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 640.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" DDR2 Standing height (50) EFO_0004339 1.28e-12 1.28 -12 "" -0.718 -0.407 -0.563 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 54.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC1R Hair colour natural before greying - Dark brown (1747) EFO_0007822 7.54e-173 7.54 -173 0.412 oddsRatioConfidenceIntervalLower 0.438 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 1306.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NPC1L1 LDL direct (30780) EFO_0004611 6.87e-15 6.87 -15 "" -0.195 -0.117 -0.156 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 2155.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN ICD10 Z92.1: Personal history of long-term (current) use of anticoagulants (Z92.1) EFO_0000352 2.02e-13 2.02 -13 1.692 oddsRatioConfidenceIntervalLower 1.946 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081404 387930 15024 253.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CLDN10 Urea (30670) EFO_0009795 3.82e-12 3.82 -12 "" 0.367 0.656 0.512 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 156.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 Mother still alive - Yes (1835) EFO_0007796 1.86e-13 1.86 -13 0.489 oddsRatioConfidenceIntervalLower 0.592 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077615 423687 167942 192.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK Non cancer illness code self reported - diabetes/ICD10 E14 EFO_0000400 1.47e-13 1.47 -13 3.76 oddsRatioConfidenceIntervalLower 5.342 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077723 329052 16961 52.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UBR2 Leg fat percentage right (23111) EFO_0007800 4.12e-12 4.12 -12 "" 0.245 0.438 0.341 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078914 423666 423666 141.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHTF18 Mean corpuscular haemoglobin (30050) EFO_0004527 2.79e-18 2.79 -18 "" 0.193 0.305 0.249 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 959.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC22A11 Urate (30880) EFO_0004531 3.12e-20 3.12 -20 "" 0.086 0.133 0.11 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 4371.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TYMP Mean sphered cell volume (30270) EFO_0004526 3.92e-12 3.92 -12 "" -0.199 -0.111 -0.155 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 1658.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 1.26e-16 1.26 -16 14.654 oddsRatioConfidenceIntervalLower 27.673 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 20.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CYP2R1 Vitamin D (30890) EFO_0004631 8.21e-20 8.21 -20 "" -0.341 -0.22 -0.28 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 965.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TMPRSS6 Mean corpuscular haemoglobin (30050) EFO_0004527 7.420000000000001e-26 7.42 -26 "" -0.928 -0.636 -0.782 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 142.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HNF1A Non cancer illness code self reported - diabetes EFO_0000400 5.58e-13 5.58 -13 7.814 oddsRatioConfidenceIntervalLower 13.664 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077722 331754 17927 25.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" WNT1 Heel quantitative ultrasound index QUI direct entry left (4104) EFO_0004514 4.6e-13 4.6 -13 "" -0.629 -0.361 -0.495 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079151 166283 166283 167.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 Ankle spacing width (3143) EFO_0004324 9.54e-25 9.54 -25 "" 0.451 0.664 0.558 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 215.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS17 Impedance of leg left (23108) HP_0000924 2.92e-13 2.92 -13 "" -0.158 -0.091 -0.125 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 2462.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APC ICD10 Z90.4: Acquired absence of other specified parts of digestive tract EFO_0000405 1.4400000000000001e-21 1.44 -21 16.973 oddsRatioConfidenceIntervalLower 30.37 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081392 387855 8508 26.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GCK ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 8.4e-28 8.4 -28 4.634 oddsRatioConfidenceIntervalLower 6.102 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 95.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR Apolipoprotein A (30630) EFO_0004732 5.66e-13 5.66 -13 "" -0.192 -0.11 -0.151 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1642.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Leg predicted mass right (23114) EFO_0004302 1.18e-13 1.18 -13 "" -0.507 -0.295 -0.401 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 115.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 1.9599999999999997e-30 1.96 -30 14.15 oddsRatioConfidenceIntervalLower 22.257 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 40.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 corneal power (RGC) EFO_0004731 3.85e-19 3.85 -19 "" 0.595 0.93 0.763 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081537 103531 103531 109.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANGPTL3 Cholesterol (30690) EFO_0004574 1.76e-17 1.76 -17 "" -0.105 -0.066 -0.086 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 8408.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OCA2 logMAR final left (5208) EFO_0008385 2.67e-12 2.67 -12 "" 0.094 0.167 0.131 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079332 109433 109433 2715.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KCNJ5 Pulse rate automated reading (102) EFO_0004326 2.26e-14 2.26 -14 "" 0.195 0.33 0.263 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 782.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ATM ICD10 C77: Secondary and unspecified malignant neoplasm of lymph nodes MONDO_0024339 5.71e-14 5.71 -14 3.217 oddsRatioConfidenceIntervalLower 4.363 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079620 387882 7019 61.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR Non cancer illness code self reported - high cholesterol HP_0003124 2.33e-99 2.33 -99 3.504 oddsRatioConfidenceIntervalLower 3.936 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 601.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB High light scatter reticulocyte count (30300) EFO_0007986 1.4700000000000002e-31 1.47 -31 "" 0.92 1.291 1.106 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 96.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Whole body fat free mass (23101) EFO_0004995 1e-15 10.0 -16 "" 0.273 0.45 0.361 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 157.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS17 Forced vital capacity FVC Best measure (20151) EFO_0004312 1.08e-14 1.08 -14 "" -0.115 -0.068 -0.092 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078317 322002 322002 3138.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCA1 Cholesterol (30690) EFO_0004574 2.99e-49 2.99 -49 "" -0.185 -0.141 -0.163 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 6965.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I50.0: Congestive heart failure (I50.0) EFO_0000373 9.48e-17 9.48 -17 5.693 oddsRatioConfidenceIntervalLower 8.579 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080020 387930 3182 39.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" CLSPN Mean reticulocyte volume (30260) EFO_0010701 8.45e-12 8.45 -12 "" 0.26 0.47 0.365 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 295.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLG ChildhoodAsthmaCases vs AllergicDiseaseControls (RGC) MONDO_0005405 1.64e-12 1.64 -12 1.514 oddsRatioConfidenceIntervalLower 1.699 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081473 297425 16952 373.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ELOVL7 Mean platelet thrombocyte volume (30100) EFO_0004584 1.33e-13 1.33 -13 "" 0.174 0.299 0.236 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 705.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 Sitting height (20015) EFO_0011011 1.66e-11 1.66 -11 "" 0.158 0.287 0.222 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 403.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NRK Sitting height (20015) EFO_0011011 5.17e-14 5.17 -14 "" 0.147 0.251 0.199 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 462.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HNF1A OralDiabetes Med (RGC) EFO_0007010 6.15e-12 6.15 -12 7.884 oddsRatioConfidenceIntervalLower 14.201 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081503 320758 13132 22.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PCSK9 Apolipoprotein B (30640) EFO_0004615 9.65e-103 9.65 -103 "" -0.815 -0.679 -0.747 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 703.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Haemoglobin concentration (30020) EFO_0004509 1.27e-133 1.27 -133 "" -2.008 -1.712 -1.86 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 98.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BAK1 Platelet crit (30090) EFO_0007985 1.02e-15 1.02 -15 "" 0.244 0.402 0.323 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 475.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R Leg predicted mass right (23114) EFO_0004302 4.4900000000000005e-21 4.49 -21 "" -0.277 -0.182 -0.229 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 568.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APC ICD10 D12: Benign neoplasm of colon, rectum, anus and anal canal EFO_0002422 5.3700000000000004e-27 5.37 -27 15.03 oddsRatioConfidenceIntervalLower 24.623 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079662 387680 16948 38.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS3 Standing height (50) EFO_0004339 4.01e-16 4.01 -16 "" -0.234 -0.143 -0.189 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 623.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LDLR ICD10 E78.0: Pure hypercholesterolemia HP_0003124 3.25e-54 3.25 -54 2.721 oddsRatioConfidenceIntervalLower 3.089 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079766 378271 45730 423.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 Total bilirubin (30840) EFO_0004570 1.23e-14 1.23 -14 "" 0.457 0.769 0.613 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 98.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" IRS1 Basal metabolic rate (23105) EFO_0007777 1.41e-20 1.41 -20 "" -0.567 -0.369 -0.468 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 140.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC45A2 Ease of skin tanning - Get very tanned (1727) EFO_0007009 6.62e-24 6.62 -24 0.301 oddsRatioConfidenceIntervalLower 0.38 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 58.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NF1 Non cancer illness code self reported - other neurological problem/ICD10 G98 EFO_0000618 8.21e-20 8.21 -20 4.74 oddsRatioConfidenceIntervalLower 6.624 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077843 329052 1701 55.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS17 Impedance of leg left (23108) HP_0000924 3.15e-13 3.15 -13 "" -0.123 -0.071 -0.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 4065.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TNFSF13 Total protein (30860) EFO_0004536 8.66e-15 8.66 -15 "" -0.669 -0.399 -0.534 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 189.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GCK T2D New Strict CC (RGC) MONDO_0005148 3.95e-25 3.95 -25 6.493 oddsRatioConfidenceIntervalLower 9.251 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081517 352271 11970 58.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK T2D (RGC) MONDO_0005148 1.57e-41 1.57 -41 5.751 oddsRatioConfidenceIntervalLower 7.414 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 121.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC ICD10 Z87.1: Personal history of diseases of the digestive system EFO_0000405 6.57e-15 6.57 -15 7.754 oddsRatioConfidenceIntervalLower 12.979 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081368 386566 20497 29.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TET2 ICD10 D69.6: Thrombocytopenia, unspecified HP_0001873 3.02e-12 3.02 -12 4.076 oddsRatioConfidenceIntervalLower 6.049 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079714 387579 1788 38.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Immature reticulocyte fraction (30280) EFO_0010700 3.87e-16 3.87 -16 "" 0.601 0.982 0.792 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 96.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RHAG Glycated haemoglobin HbA1c (30750) EFO_0004541 6.040000000000001e-21 6.04 -21 "" -0.271 -0.177 -0.224 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 1342.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLT3 Monocyte percentage (30190) EFO_0007989 2.34e-16 2.34 -16 "" 0.164 0.267 0.215 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 1180.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MEN1 ICD10 E21.3: Hyperparathyroidism, unspecified EFO_0008506 4.85e-12 4.85 -12 298.59 oddsRatioConfidenceIntervalLower 1503.59 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079752 387820 512 5.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RRAD Pulse rate automated reading (102) EFO_0004326 4.46e-13 4.46 -13 "" 0.165 0.287 0.226 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 954.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS17 Forced vital capacity FVC (3062) EFO_0004312 2.96e-13 2.96 -13 "" -0.101 -0.058 -0.079 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 3829.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD2 ICD10 Q61: Cystic kidney disease EFO_0008615 3.36e-37 3.36 -37 23.785 oddsRatioConfidenceIntervalLower 38.723 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 37.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Haemoglobin concentration (30020) EFO_0004509 5.62e-65 5.62 -65 "" -1.636 -1.298 -1.467 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CALR Platelet crit (30090) EFO_0007985 4.72e-75 4.72 -75 "" 1.698 2.105 1.902 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 71.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASGR1 Alkaline phosphatase (30610) EFO_0004533 4.25e-23 4.25 -23 "" 0.82 1.225 1.023 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 73.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" E2F8 Mean sphered cell volume (30270) EFO_0004526 1.34e-11 1.34 -11 "" 0.265 0.48 0.372 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 272.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL6A1 Corneal hysteresis right (5256) EFO_0010066 3.44e-25 3.44 -25 "" -1.349 -0.92 -1.135 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079335 105888 105888 75.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RNF10 High light scatter reticulocyte count (30300) EFO_0007986 2.79e-12 2.79 -12 "" 0.505 0.899 0.702 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 85.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FCGRT Total protein (30860) EFO_0004536 1.6e-32 1.6 -32 "" -1.523 -1.091 -1.307 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 74.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RHOF Mean platelet thrombocyte volume (30100) EFO_0004584 3.05e-34 3.05 -34 "" 0.354 0.489 0.422 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 632.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 Illnesses of mother - Breast cancer (20110) EFO_0009640 4.52e-28 4.52 -28 3.416 oddsRatioConfidenceIntervalLower 4.253 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 133.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CRISPLD1 Seated height (51) EFO_0011011 2.21e-12 2.21 -12 "" -0.195 -0.11 -0.152 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 1085.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PLEKHO2 Platelet distribution width (30110) EFO_0007984 1.36e-13 1.36 -13 "" 0.115 0.197 0.156 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1806.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 2.0999999999999999e-41 2.1 -41 3.389 oddsRatioConfidenceIntervalLower 4.048 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 192.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TECTA hearing loss (RGC) EFO_0004238 4.19e-17 4.19 -17 1.465 oddsRatioConfidenceIntervalLower 1.601 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 926.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC4A1 Glycated haemoglobin HbA1c (30750) EFO_0004541 5.05e-22 5.05 -22 "" -0.551 -0.365 -0.458 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 342.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HMCN1 Forced vital capacity FVC Z score (20257) EFO_0004312 1.13e-11 1.13 -11 "" -0.064 -0.035 -0.05 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078389 343302 343302 17949.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PALB2 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 1.01e-12 1.01 -12 3.011 oddsRatioConfidenceIntervalLower 4.077 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 62.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Red blood cell erythrocyte count (30010) EFO_0004305 4.23e-12 4.23 -12 "" -0.165 -0.092 -0.128 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 1794.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SBNO2 Lymphocyte count (30120) EFO_0004587 1.3499999999999999e-24 1.35 -24 "" 0.303 0.447 0.375 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 658.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" E2F8 Mean corpuscular haemoglobin (30050) EFO_0004527 3.76e-14 3.76 -14 "" 0.299 0.508 0.403 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 273.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LRP5 Speed of sound through heel (3146) EFO_0005654 1.68e-13 1.68 -13 "" -0.762 -0.442 -0.602 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 120.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PIEZO1 Arm predicted mass right (23122) EFO_0004302 7.87e-12 7.87 -12 "" -0.032 -0.018 -0.025 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 24585.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK T2D New Strict CC (RGC) MONDO_0005148 1.6500000000000002e-26 1.65 -26 14.99 oddsRatioConfidenceIntervalLower 24.664 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081517 352271 11970 37.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 5.24e-29 5.24 -29 "" 1.654 2.357 2.006 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 19.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MLH1 ICD10 C18.0: Malignant neoplasm of cecum MONDO_0002033 1.32e-11 1.32 -11 72.31 oddsRatioConfidenceIntervalLower 249.868 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079577 387929 774 7.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Monocyte percentage (30190) EFO_0007989 2.14e-15 2.14 -15 "" 0.202 0.334 0.268 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 710.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" JAK2 ICD10 R16: Hepatomegaly and splenomegaly, not elsewhere classified HP_0002240 1.32e-17 1.32 -17 7.004 oddsRatioConfidenceIntervalLower 10.947 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080805 387634 864 31.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 Illnesses of siblings - Breast cancer (20111) EFO_0009640 9.59e-16 9.59 -16 2.662 oddsRatioConfidenceIntervalLower 3.38 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 98.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PDE3B Leg fat free mass left (23117) EFO_0004995 1.62e-11 1.62 -11 "" 0.081 0.148 0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 1200.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PER3 Chronotype - Definitely a morning person (1180) EFO_0008328 7.93e-16 7.93 -16 1.274 oddsRatioConfidenceIntervalLower 1.351 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077573 388330 107453 1750.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PTPRH Glycated haemoglobin HbA1c (30750) EFO_0004541 5.95e-19 5.95 -19 "" 0.1 0.157 0.129 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 3669.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GIGYF1 Apolipoprotein B (30640) EFO_0004615 2.94e-14 2.94 -14 "" -0.707 -0.417 -0.562 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 152.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOC3 Triglycerides (30870) EFO_0004530 2.2300000000000002e-307 2.23 -307 "" -1.203 -1.126 -1.164 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 2155.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHEK2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 3.84e-23 3.84 -23 1.879 oddsRatioConfidenceIntervalLower 2.128 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 350.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GPLD1 Alkaline phosphatase (30610) EFO_0004533 2.2300000000000002e-307 2.23 -307 "" -0.823 -0.77 -0.796 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 4217.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACVRL1 ICD10 I78: Diseases of capillaries EFO_0004264 2.62e-19 2.62 -19 168.599 oddsRatioConfidenceIntervalLower 516.038 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 10.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I50: Heart failure EFO_0003144 1.92e-21 1.92 -21 2.085 oddsRatioConfidenceIntervalLower 2.426 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080023 387076 8159 226.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SHBG Testosterone (30850) EFO_0004908 1.13e-48 1.13 -48 "" -0.363 -0.277 -0.32 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079042 373826 373826 745.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APC ICD10 D13.1: Benign neoplasm of stomach MONDO_0021449 2.17e-25 2.17 -25 137.279 oddsRatioConfidenceIntervalLower 346.704 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079663 387930 1028 14.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" MLH1 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 2.47e-25 2.47 -25 8.119 oddsRatioConfidenceIntervalLower 12.049 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 47.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SEC23B Red blood cell erythrocyte distribution width (30070) EFO_0009188 7.87e-19 7.87 -19 "" 0.446 0.7 0.573 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 203.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CXCL2 Neutrophil percentage (30200) EFO_0007990 2.42e-12 2.42 -12 "" -0.757 -0.426 -0.591 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 126.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PDE3B Seated height (51) EFO_0011011 4.09e-15 4.09 -15 "" 0.092 0.154 0.123 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 2097.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC1R Skin colour - Light olive (1717) EFO_0003784 1.37e-158 1.37 -158 0.301 oddsRatioConfidenceIntervalLower 0.329 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 423.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CETP Apolipoprotein A (30630) EFO_0004732 9.46e-51 9.46 -51 "" 0.587 0.764 0.676 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 361.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" DIAPH1 Mean platelet thrombocyte volume (30100) EFO_0004584 1.26e-12 1.26 -12 "" 0.299 0.527 0.413 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 212.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SMAD6 6mm weak meridian left (5097) EFO_0004731 1.05e-14 1.05 -14 "" 0.587 0.986 0.787 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 77.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ACAN Arm predicted mass left (23126) EFO_0004302 8.89e-16 8.89 -16 "" -0.862 -0.524 -0.693 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 44.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" TTN Trunk fat free mass (23129) EFO_0004995 1.26e-18 1.26 -18 "" -0.08 -0.051 -0.066 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 5841.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Forced expiratory volume in 1 second FEV1 (3063) EFO_0004314 9.33e-13 9.33 -13 "" -0.128 -0.073 -0.1 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079017 395451 395451 2481.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PDZK1 Urate (30880) EFO_0004531 9.809999999999999e-48 9.81 -48 "" -0.618 -0.471 -0.545 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 437.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 Mother still alive - Yes (1835) EFO_0007796 1.86e-13 1.86 -13 0.489 oddsRatioConfidenceIntervalLower 0.592 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077615 423687 167942 192.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CXCL2 Neutrophil count (30140) EFO_0004833 3.29e-17 3.29 -17 "" -0.871 -0.543 -0.707 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 126.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MPO Neutrophil count (30140) EFO_0004833 1.11e-26 1.11 -26 "" 0.074 0.107 0.091 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 12701.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGFALS Whole body fat free mass (23101) EFO_0004995 1.41e-11 1.41 -11 "" -0.081 -0.045 -0.063 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 3693.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Leg predicted mass right (23114) EFO_0004302 2.02e-12 2.02 -12 "" -0.069 -0.039 -0.054 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 5845.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR Non cancer illness code self reported - high cholesterol HP_0003124 2.18e-20 2.18 -20 7.912 oddsRatioConfidenceIntervalLower 12.261 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 53.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" TET2 Cystatin C (30720) EFO_0004617 3.81e-17 3.81 -17 "" 0.127 0.204 0.165 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 1763.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 ICD10 Y43.3: Adverse effects in the therapeutic use of other antineoplastic drugs (Y43.3) EFO_0000546 1.38e-13 1.38 -13 4.304 oddsRatioConfidenceIntervalLower 6.336 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081150 387930 2845 40.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC1R Skin colour - Dark olive (1717) EFO_0003784 8.99e-17 8.99 -17 0.29 oddsRatioConfidenceIntervalLower 0.388 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077600 425361 7210 28.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 7.64e-21 7.64 -21 16.639 oddsRatioConfidenceIntervalLower 29.971 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 24.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APC ICD10 K91: Intraoperative and postprocedural complications and disorders of digestive system, not elsewhere classified EFO_0000405 1.1e-15 1.1 -15 31.771 oddsRatioConfidenceIntervalLower 74.012 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080318 387834 2050 13.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SERPINC1 ICD10 D68: Other coagulation defects EFO_0009314 1.63e-11 1.63 -11 266.332 oddsRatioConfidenceIntervalLower 1352.57 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079713 387478 1286 5.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" CAD Mean corpuscular volume (30040) EFO_0004526 3.14e-13 3.14 -13 "" 0.546 0.948 0.747 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 74.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" MFSD2B Mean sphered cell volume (30270) EFO_0004526 4.88e-16 4.88 -16 "" -0.128 -0.078 -0.103 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 5756.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Basal metabolic rate (23105) EFO_0007777 1.5e-13 1.5 -13 "" -0.073 -0.043 -0.058 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 5845.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PCSK9 Apolipoprotein B (30640) EFO_0004615 2.77e-38 2.77 -38 "" -0.83 -0.612 -0.721 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8474 8474 308.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APC ICD10 K91.4: Colostomy and enterostomy malfunction (K91.4) EFO_0000405 2.5e-14 2.5 -14 63.128 oddsRatioConfidenceIntervalLower 183.296 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080316 387930 635 9.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EML4 Impedance of arm right (23109) HP_0000924 6.52e-13 6.52 -13 "" -0.162 -0.093 -0.128 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 1376.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Reticulocyte percentage (30240) EFO_0010700 1.18e-21 1.18 -21 "" 0.184 0.28 0.232 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1508.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGF1R Trunk fat free mass (23129) EFO_0004995 9.38e-20 9.38 -20 "" -0.458 -0.296 -0.377 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 185.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" LDLR ICD10 E78.0: Pure hypercholesterolemia HP_0003124 5.23e-16 5.23 -16 6.655 oddsRatioConfidenceIntervalLower 10.524 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079766 378271 45730 43.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CXCL6 Neutrophil count (30140) EFO_0004833 1.24e-24 1.24 -24 "" -0.146 -0.099 -0.123 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 6207.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.43e-128 2.43 -128 "" -2.53 -2.149 -2.339 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 98.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 DD Cancer - Yes (2453) EFO_0000311 2.69e-15 2.69 -15 1.413 oddsRatioConfidenceIntervalLower 1.539 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 669.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANKRD12 Townsend deprivation index at recruitment (189) EFO_0009711 3.55e-14 3.55 -14 "" 0.305 0.518 0.412 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077617 430494 430494 318.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHEK2 Illnesses of mother - Breast cancer (20110) EFO_0009640 2.55e-16 2.55 -16 1.655 oddsRatioConfidenceIntervalLower 1.867 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 343.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EXOC3L4 Gamma glutamyltransferase (30730) EFO_0004532 9.03e-12 9.03 -12 "" -0.134 -0.074 -0.104 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 3889.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGF1R Trunk predicted mass (23130) EFO_0004324 3.23e-21 3.23 -21 "" -0.204 -0.134 -0.169 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 995.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MSH2 ICD10 Z80.0: Family history of malignant neoplasm of digestive organs EFO_0009640 7.65e-13 7.65 -13 4.742 oddsRatioConfidenceIntervalLower 7.257 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081329 385471 9455 35.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A6 Direct bilirubin (30660) EFO_0004570 9.88e-12 9.88 -12 "" 0.283 0.511 0.397 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 245.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Leg fat free mass right (23113) EFO_0004995 2.68e-14 2.68 -14 "" 0.206 0.349 0.278 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 257.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SCUBE3 Seated height (51) EFO_0011011 5.71e-16 5.71 -16 "" -0.158 -0.097 -0.127 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 2094.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 Non cancer illness code self reported - other neurological problem/ICD10 G98 EFO_0000618 5.86e-43 5.86 -43 49.984 oddsRatioConfidenceIntervalLower 87.331 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077843 329052 1701 34.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SPSB3 Trunk fat free mass (23129) EFO_0004995 5.82e-15 5.82 -15 "" -0.069 -0.041 -0.055 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 6510.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Non cancer illness code self reported - atrial fibrillation/ICD10 I48 EFO_0000275 3.12e-15 3.12 -15 2.351 oddsRatioConfidenceIntervalLower 2.908 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077882 329052 3763 116.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Arm fat free mass left (23125) EFO_0004995 7.98e-18 7.98 -18 "" -0.566 -0.356 -0.461 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 115.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean corpuscular volume (30040) EFO_0004526 6.05e-108 6.05 -108 "" -2.412 -2.018 -2.215 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TMPRSS6 Haemoglobin concentration (30020) EFO_0004509 2.62e-31 2.62 -31 "" -0.239 -0.17 -0.205 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1822.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTA1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.74e-16 2.74 -16 "" 0.31 0.505 0.407 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 373.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SCARB1 HDL cholesterol (30760) EFO_0004612 3.74e-30 3.74 -30 "" 0.31 0.439 0.375 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 624.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOB Triglycerides (30870) EFO_0004530 2.2899999999999998e-54 2.29 -54 "" -0.195 -0.151 -0.173 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 6772.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SRSF2 ICD10 D69.6: Thrombocytopenia, unspecified HP_0001873 2.92e-22 2.92 -22 23.614 oddsRatioConfidenceIntervalLower 44.724 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079714 387579 1788 22.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK DD DM - Yes (2443) EFO_0000400 3.35e-14 3.35 -14 10.223 oddsRatioConfidenceIntervalLower 18.642 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078949 429739 22058 24.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" SMAD6 3mm weak meridian right (5099) EFO_0004731 1.23e-15 1.23 -15 "" 0.27 0.445 0.357 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 404.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOB ICD10 E78: Disorders of lipoprotein metabolism and other lipidemias Orphanet_79062 4.42e-15 4.42 -15 0.29 oddsRatioConfidenceIntervalLower 0.396 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079768 372199 51365 30.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN ICD10 I50.0: Congestive heart failure (I50.0) EFO_0000373 9.48e-17 9.48 -17 5.693 oddsRatioConfidenceIntervalLower 8.579 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080020 387930 3182 39.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" OCA2 Age started wearing glasses or contact lenses (2217) EFO_0004731 1.23e-25 1.23 -25 "" -0.125 -0.086 -0.105 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078869 374837 374837 9443.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Total bilirubin (30840) EFO_0004570 1.69e-13 1.69 -13 "" 0.416 0.718 0.567 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 105.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TP53 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 1.67e-14 1.67 -14 16.566 oddsRatioConfidenceIntervalLower 33.933 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 16.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS17 Seated height (51) EFO_0011011 4.05e-20 4.05 -20 "" -0.16 -0.104 -0.132 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 2488.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NPR2 Seated height (51) EFO_0011011 3.1e-14 3.1 -14 "" -0.345 -0.203 -0.274 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 394.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CALR High light scatter reticulocyte percentage (30290) EFO_0010700 2.82e-15 2.82 -15 "" 0.67 1.112 0.891 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 69.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SHBG Testosterone (30850) EFO_0004908 1.61e-12 1.61 -12 "" -0.336 -0.19 -0.263 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079042 373826 373826 256.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APC ICD10 K91: Intraoperative and postprocedural complications and disorders of digestive system, not elsewhere classified EFO_0000405 1.1e-15 1.1 -15 31.771 oddsRatioConfidenceIntervalLower 74.012 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080318 387834 2050 13.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 3mm weak meridian right (5099) EFO_0004731 3.51e-22 3.51 -22 "" 0.45 0.678 0.564 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 237.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LRP5 Speed of sound through heel (3146) EFO_0005654 1.68e-13 1.68 -13 "" -0.762 -0.442 -0.602 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 120.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RUNX1 Platelet count (30080) EFO_0004309 1.11e-13 1.11 -13 "" -1.598 -0.931 -1.265 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 26.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GIGYF1 ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 1.97e-11 1.97 -11 4.551 oddsRatioConfidenceIntervalLower 7.086 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 37.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CACNA1F Age started wearing glasses or contact lenses (2217) EFO_0004847 7.67e-13 7.67 -13 "" -0.825 -0.471 -0.648 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078869 374837 374837 64.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" OCA2 started wearing glasses contacts before 40 (RGC) EFO_0004731 8.639999999999999e-24 8.64 -24 "" -0.166 -0.112 -0.139 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081542 192090 192090 5146.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Forced expiratory volume in 1 second FEV1 Best measure (20150) EFO_0004314 5.32e-12 5.32 -12 "" -0.107 -0.06 -0.083 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078316 322002 322002 3321.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SF3B1 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 1.68e-19 1.68 -19 22.526 oddsRatioConfidenceIntervalLower 44.28 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 19.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 ICD10 N18.9: Chronic kidney disease, unspecified EFO_0003884 1.1e-22 1.1 -22 4.733 oddsRatioConfidenceIntervalLower 6.458 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080583 387930 3916 65.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" NPC1 Mean corpuscular haemoglobin (30050) EFO_0004527 3.97e-12 3.97 -12 "" -0.159 -0.089 -0.124 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 2745.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Impedance of arm left (23110) HP_0000924 4.82e-16 4.82 -16 "" 0.129 0.212 0.171 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 987.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" TYRP1 Hair colour natural before greying - Dark brown (1747) EFO_0007822 7.57e-13 7.57 -13 0.358 oddsRatioConfidenceIntervalLower 0.474 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 59.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" JAK2 Platelet count (30080) EFO_0004309 1.85e-44 1.85 -44 "" 0.283 0.375 0.329 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1387.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NF1 Neutrophil count (30140) EFO_0004833 1.16e-12 1.16 -12 "" 0.274 0.483 0.378 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 314.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Leg fat free mass right (23113) EFO_0004995 3.67e-28 3.67 -28 "" 0.097 0.138 0.118 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 3012.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NF1 Non cancer illness code self reported - other neurological problem/ICD10 G98 EFO_0000618 8.21e-20 8.21 -20 4.74 oddsRatioConfidenceIntervalLower 6.624 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077843 329052 1701 55.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Non cancer illness code self reported - atrial fibrillation EFO_0000275 2e-15 2.0 -15 2.33 oddsRatioConfidenceIntervalLower 2.871 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077881 331754 3921 120.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN HF (RGC) EFO_0003144 8.55e-30 8.55 -30 2.575 oddsRatioConfidenceIntervalLower 3.032 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081485 387050 8159 206.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Arm predicted mass left (23126) EFO_0004302 1.54e-12 1.54 -12 "" 0.208 0.368 0.288 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 197.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TECTA Hearing difficulty problems - Yes (2247) EFO_0007616 1.44e-16 1.44 -16 1.302 oddsRatioConfidenceIntervalLower 1.386 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 1601.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HNF1A Non cancer illness code self reported - diabetes/ICD10 E14 EFO_0000400 1.06e-11 1.06 -11 7.369 oddsRatioConfidenceIntervalLower 13.106 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077723 329052 16961 23.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ALPL Alkaline phosphatase (30610) EFO_0004533 3.32e-106 3.32 -106 "" -0.793 -0.663 -0.728 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 703.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HK1 Glycated haemoglobin HbA1c (30750) EFO_0004541 7.19e-15 7.19 -15 "" -0.271 -0.162 -0.216 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 1014.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Standing height (50) EFO_0004339 6.6e-118 6.6 -118 "" 0.149 0.176 0.162 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 6816.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" DIAPH1 Mean platelet thrombocyte volume (30100) EFO_0004584 2.08e-11 2.08 -11 "" 0.384 0.702 0.543 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 109.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" UGT1A1 ICD10 E80: Disorders of porphyrin and bilirubin metabolism Orphanet_309824 8.52e-13 8.52 -13 9.933 oddsRatioConfidenceIntervalLower 18.635 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079769 387166 614 18.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" JAK2 Platelet crit (30090) EFO_0007985 4.33e-13 4.33 -13 "" 0.327 0.569 0.448 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 202.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" ZFAT Basal metabolic rate (23105) EFO_0007777 1.38e-11 1.38 -11 "" 0.218 0.397 0.308 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 170.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Whole body fat free mass (23101) EFO_0004995 2.89e-16 2.89 -16 "" 0.219 0.357 0.288 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 257.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LRP2 Cystatin C (30720) EFO_0004617 3.08e-23 3.08 -23 "" -0.524 -0.351 -0.437 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 350.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS17 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 2.46e-15 2.46 -15 "" -0.333 -0.201 -0.267 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 125.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Arm fat free mass right (23121) EFO_0004995 2.55e-19 2.55 -19 "" 0.129 0.201 0.165 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SCUBE3 Standing height (50) EFO_0004339 6.22e-30 6.22 -30 "" -0.17 -0.12 -0.145 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2094.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Platelet distribution width (30110) EFO_0007984 8.52e-17 8.52 -17 "" 0.214 0.345 0.279 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 709.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" TET2 White blood cell leukocyte count (30000) EFO_0004308 3.95e-18 3.95 -18 "" -0.238 -0.15 -0.194 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 1779.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NFKBIE ICD10 C91: Lymphoid leukemia EFO_0004289 1.13e-12 1.13 -12 25.422 oddsRatioConfidenceIntervalLower 61.994 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 11.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Basal metabolic rate (23105) EFO_0007777 3.22e-29 3.22 -29 "" 0.159 0.226 0.192 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK DD DM - Yes (2443) EFO_0000400 9.46e-30 9.46 -30 5.13 oddsRatioConfidenceIntervalLower 6.807 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078949 429739 22058 89.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MYOC ICD10 H40: Glaucoma EFO_0000516 2.16e-20 2.16 -20 2.905 oddsRatioConfidenceIntervalLower 3.641 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079909 384560 8122 110.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C78.6: Secondary malignant neoplasm of retroperitoneum and peritoneum EFO_0009812 3.82e-22 3.82 -22 7.099 oddsRatioConfidenceIntervalLower 10.559 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079623 387930 1833 43.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Arm predicted mass right (23122) EFO_0004302 9.72e-13 9.72 -13 "" 0.206 0.362 0.284 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 197.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PROS1 VTE PE CC (RGC) EFO_0003827 4.08e-12 4.08 -12 2.826 oddsRatioConfidenceIntervalLower 3.791 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081536 376456 5226 63.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 1.79e-14 1.79 -14 "" -2.921 -1.731 -2.326 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 10.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" APOB Non cancer illness code self reported - high cholesterol HP_0003124 1.99e-11 1.99 -11 0.633 oddsRatioConfidenceIntervalLower 0.724 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 237.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CASR Calcium (30680) EFO_0004838 1.45e-32 1.45 -32 "" 1.468 2.048 1.758 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 42.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APOC3 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.21e-53 1.21 -53 "" 0.265 0.342 0.304 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 2205.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Haemoglobin concentration (30020) EFO_0004509 6.04e-29 6.04 -29 "" -2.251 -1.579 -1.915 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 19.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ATP11C Total bilirubin (30840) EFO_0004570 5.79e-16 5.79 -16 "" 0.487 0.798 0.643 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 68.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOC3 Apolipoprotein A (30630) EFO_0004732 1.3800000000000001e-273 1.38 -273 "" 0.647 0.723 0.685 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1921.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Arm fat mass left (23124) EFO_0005409 2.69e-15 2.69 -15 "" 0.387 0.642 0.514 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078927 423512 423512 197.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANK1 Reticulocyte percentage (30240) EFO_0010700 1.19e-17 1.19 -17 "" 0.699 1.114 0.907 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 79.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Impedance of leg right (23107) HP_0000924 1.16e-17 1.16 -17 "" 0.108 0.172 0.14 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 2646.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANGPTL3 Cholesterol (30690) EFO_0004574 2.51e-15 2.51 -15 "" -0.449 -0.271 -0.36 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 410.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Pulse rate (4194) EFO_0004326 6.910000000000001e-21 6.91 -21 "" 0.174 0.266 0.22 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079160 173103 173103 1734.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RUNX1 Platelet crit (30090) EFO_0007985 2.92e-13 2.92 -13 "" -1.582 -0.912 -1.247 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 26.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SAG Total bilirubin (30840) EFO_0004570 2.42e-14 2.42 -14 "" 0.226 0.382 0.304 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8490 8490 715.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOC3 Triglycerides (30870) EFO_0004530 2.2300000000000002e-307 2.23 -307 "" -1.203 -1.126 -1.165 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 2162.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Trunk predicted mass (23130) EFO_0004324 2.14e-22 2.14 -22 "" -0.828 -0.551 -0.689 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 63.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LRP5 Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 9.79e-14 9.79 -14 "" -0.76 -0.443 -0.601 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 120.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 3mm weak meridian right (5099) EFO_0004731 1.23e-15 1.23 -15 "" 0.27 0.445 0.357 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 404.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CALR Mean platelet thrombocyte volume (30100) EFO_0004584 1.21e-14 1.21 -14 "" -0.968 -0.576 -0.772 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 71.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Impedance of arm right (23109) HP_0000924 1.02e-36 1.02 -36 "" 0.106 0.145 0.126 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 4407.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANGPTL8 Apolipoprotein A (30630) EFO_0004732 7.28e-14 7.28 -14 "" 0.205 0.351 0.278 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 519.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MFRP corneal power (RGC) EFO_0004731 2e-11 2.0 -11 "" 0.174 0.318 0.246 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081537 103531 103531 594.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Arm fat free mass right (23121) EFO_0004995 1.71e-13 1.71 -13 "" 0.258 0.445 0.352 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 138.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGF1R Standing height (50) EFO_0004339 1.3399999999999999e-25 1.34 -25 "" -0.527 -0.36 -0.443 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 187.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" SLC45A2 Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 4.1e-18 4.1 -18 0.627 oddsRatioConfidenceIntervalLower 0.697 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 488.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGFBP6 IGF 1 (30770) EFO_0004627 5.25e-12 5.25 -12 "" -0.398 -0.222 -0.31 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 397.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NF1 ICD10 D36.1: Benign neoplasm of peripheral nerves and autonomic nervous system EFO_0002422 9.5e-29 9.5 -29 9.787 oddsRatioConfidenceIntervalLower 14.628 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079694 387929 616 45.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IL33 ICD10 J45: Asthma MONDO_0004979 1.32e-11 1.32 -11 0.695 oddsRatioConfidenceIntervalLower 0.772 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080141 383974 39436 343.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Weight (23098) EFO_0004338 3.34e-13 3.34 -13 "" 0.095 0.166 0.131 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 2067.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LIPC HDL cholesterol (30760) EFO_0004612 7.74e-95 7.74 -95 "" 0.264 0.32 0.292 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 3403.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LIPC HDL cholesterol (30760) EFO_0004612 1.1900000000000001e-27 1.19 -27 "" 0.233 0.336 0.284 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 998.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GCK DD DM - Yes (2443) EFO_0000400 1.2299999999999998e-23 1.23 -23 22.735 oddsRatioConfidenceIntervalLower 41.882 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078949 429739 22058 29.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Arm predicted mass right (23122) EFO_0004302 4.23e-13 4.23 -13 "" 0.236 0.411 0.323 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 157.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 1.17e-160 1.17 -160 "" -1.267 -1.096 -1.181 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 423.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RNF10 Reticulocyte count (30250) EFO_0007986 5.73e-12 5.73 -12 "" 0.59 1.06 0.825 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 60.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ABCA3 FEV1 FVC ratio Z score (20258) EFO_0004713 1.63e-18 1.63 -18 "" 0.066 0.104 0.085 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 9750.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR MI (RGC) EFO_0000612 7.01e-12 7.01 -12 2.158 oddsRatioConfidenceIntervalLower 2.688 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081495 422491 17896 114.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ALB Calcium (30680) EFO_0004838 2.54e-20 2.54 -20 "" -0.592 -0.385 -0.488 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 325.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" KDM5B Hand grip strength left (46) EFO_0006941 2.21e-15 2.21 -15 "" -0.414 -0.25 -0.332 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 256.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PIEZO1 Whole body water mass (23102) EFO_0009805 3.37e-15 3.37 -15 "" -0.036 -0.022 -0.029 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 24592.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Arm fat percentage right (23119) EFO_0007800 1.1e-21 1.1 -21 "" 0.156 0.237 0.196 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078922 423608 423608 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Leg fat free mass left (23117) EFO_0004995 1.83e-50 1.83 -50 "" 0.094 0.122 0.108 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 6709.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGFALS Impedance of leg left (23108) HP_0000924 2.27e-13 2.27 -13 "" 0.103 0.178 0.14 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 1960.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 Speed of sound through heel (3146) EFO_0005654 1.79e-12 1.79 -12 "" -0.547 -0.309 -0.428 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 215.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN ICD10 I42: Cardiomyopathy EFO_0000318 4.42e-52 4.42 -52 6.375 oddsRatioConfidenceIntervalLower 8.097 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 117.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PCSK9 Apolipoprotein B (30640) EFO_0004615 1.39e-12 1.39 -12 "" -0.703 -0.398 -0.55 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8474 8474 154.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACAN Comparative height size at age 10 - Shorter (1697) EFO_0004339 1.05e-16 1.05 -16 9.674 oddsRatioConfidenceIntervalLower 16.533 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 42.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TET2 White blood cell leukocyte count (30000) EFO_0004308 5.53e-18 5.53 -18 "" -0.236 -0.149 -0.192 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 1794.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LRP5 Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 9.79e-14 9.79 -14 "" -0.76 -0.443 -0.601 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 120.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" COL4A4 Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 8.39e-85 8.39 -85 "" 0.797 0.975 0.886 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 447.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ATR Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.22e-17 1.22 -17 "" 0.1 0.159 0.129 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3756.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PCSK9 Apolipoprotein B (30640) EFO_0004615 1.48e-77 1.48 -77 "" -1.149 -0.93 -1.039 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 272.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SPTA1 Reticulocyte count (30250) EFO_0007986 5.49e-50 5.49 -50 "" 0.631 0.823 0.727 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 365.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MYOC Non cancer illness code self reported - glaucoma EFO_0000516 3.09e-19 3.09 -19 4.007 oddsRatioConfidenceIntervalLower 5.428 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077754 331754 5059 66.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FBN2 Impedance of arm left (23110) HP_0000924 1.24e-11 1.24 -11 "" 0.318 0.578 0.448 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 99.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" ABCA1 Apolipoprotein A (30630) EFO_0004732 5.75e-12 5.75 -12 "" -0.904 -0.504 -0.704 "" SAS HANCESTRO_0006 UK Biobank 450k "" 8973 8973 73.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGF1R Leg fat free mass right (23113) EFO_0004995 9.94e-17 9.94 -17 "" -0.711 -0.44 -0.575 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 71.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ACO1 Red blood cell erythrocyte count (30010) EFO_0004305 3.26e-17 3.26 -17 "" 0.253 0.405 0.329 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 403.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MEN1 ICD10 E21: Hyperparathyroidism and other disorders of parathyroid gland EFO_0008506 1.75e-11 1.75 -11 14.176 oddsRatioConfidenceIntervalLower 30.7 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079753 387625 1168 13.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Seated height (51) EFO_0011011 1.25e-27 1.25 -27 "" -1.151 -0.8 -0.975 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 64.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ASGR1 Alkaline phosphatase (30610) EFO_0004533 4.94e-65 4.94 -65 "" 0.859 1.082 0.971 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 240.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS17 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 2.29e-14 2.29 -14 "" -0.099 -0.059 -0.079 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 1336.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK Glycated haemoglobin HbA1c (30750) EFO_0004541 1.1800000000000002e-37 1.18 -37 "" 1.114 1.515 1.314 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 73.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" PTPN11 Standing height (50) EFO_0004339 4.69e-15 4.69 -15 "" -0.308 -0.185 -0.247 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 340.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ALB Cholesterol (30690) EFO_0004574 1.39e-16 1.39 -16 "" 0.476 0.772 0.624 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 147.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CSF2RB Eosinophil percentage (30210) EFO_0007991 9.62e-39 9.62 -39 "" -0.565 -0.417 -0.491 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 616.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TRIM10 Mean reticulocyte volume (30260) EFO_0010701 2.18e-14 2.18 -14 "" 0.166 0.281 0.224 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 994.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NR1I3 Direct bilirubin (30660) EFO_0004570 2.76e-13 2.76 -13 "" 0.146 0.253 0.199 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 887.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CALR ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 4.3799999999999995e-61 4.38 -61 387.89 oddsRatioConfidenceIntervalLower 787.79 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 31.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APC ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 3.62e-14 3.62 -14 7.643 oddsRatioConfidenceIntervalLower 12.936 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 28.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB Triglycerides (30870) EFO_0004530 2.4199999999999998e-234 2.42 -234 "" -1.183 -1.049 -1.116 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 697.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z40: Encounter for prophylactic surgery EFO_0009580 6.91e-14 6.91 -14 1.786 oddsRatioConfidenceIntervalLower 2.079 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081254 347298 40136 238.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CALR Haematocrit percentage (30030) EFO_0004348 1.88e-13 1.88 -13 "" -0.853 -0.494 -0.673 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 71.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IQGAP2 High light scatter reticulocyte percentage (30290) EFO_0010700 3.87e-12 3.87 -12 "" 0.125 0.223 0.174 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1400.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS17 Standing height (50) EFO_0004339 2.73e-25 2.73 -25 "" -0.267 -0.182 -0.225 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 721.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" E2F4 Mean corpuscular haemoglobin (30050) EFO_0004527 1.9e-21 1.9 -21 "" 1.361 2.068 1.714 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 24.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" STC2 Comparative height size at age 10 - Taller (1697) EFO_0004339 1.43e-12 1.43 -12 1.385 oddsRatioConfidenceIntervalLower 1.516 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 791.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Arm predicted mass left (23126) EFO_0004302 4.65e-17 4.65 -17 "" -0.552 -0.343 -0.448 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 115.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FLG Age hay fever rhinitis or eczema diagnosed (3761) EFO_0003956 2.02e-12 2.02 -12 "" -0.289 -0.163 -0.226 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079072 88602 88602 880.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.11e-81 3.11 -81 "" -2.209 -1.797 -2.003 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTA1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.1500000000000001e-43 1.15 -43 "" -0.808 -0.608 -0.708 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 294.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GP1BB Platelet distribution width (30110) EFO_0007984 2.5300000000000003e-21 2.53 -21 "" 0.933 1.42 1.177 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 52.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PRPSAP1 Urate (30880) EFO_0004531 1.04e-12 1.04 -12 "" 0.123 0.216 0.169 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 1085.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SEC23B Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.73e-23 2.73 -23 "" 0.131 0.195 0.163 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3194.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Comparative body size at age 10 - Plumper (1687) EFO_0009819 2.3800000000000002e-32 2.38 -32 6.071 oddsRatioConfidenceIntervalLower 8.183 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077589 423612 68629 104.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Arm fat mass right (23120) EFO_0005409 1.42e-26 1.42 -26 "" 0.23 0.333 0.281 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078923 423576 423576 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOC3 Mean reticulocyte volume (30260) EFO_0010701 2.6e-12 2.6 -12 "" 0.099 0.176 0.137 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 2176.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PAPPA2 Trunk predicted mass (23130) EFO_0004324 2.17e-15 2.17 -15 "" -0.139 -0.084 -0.111 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 1620.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Impedance of leg right (23107) HP_0000924 4.68e-13 4.68 -13 "" -0.548 -0.315 -0.431 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 197.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TMPRSS6 Mean corpuscular haemoglobin (30050) EFO_0004527 6.78e-67 6.78 -67 "" -0.4 -0.319 -0.36 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1822.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PAPPA2 Whole body water mass (23102) EFO_0009805 2.18e-14 2.18 -14 "" -0.122 -0.072 -0.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 2008.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL4A3 Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 4.63e-15 4.63 -15 "" 0.106 0.176 0.141 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 2864.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PIEZO1 Sitting height (20015) EFO_0011011 2.02e-11 2.02 -11 "" -0.147 -0.081 -0.114 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1517.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PAPPA2 Sitting height (20015) EFO_0011011 1.51e-13 1.51 -13 "" -0.137 -0.08 -0.109 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 2053.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IL33 ICD10 J45.9: Other and unspecified asthma MONDO_0004979 9.93e-12 9.93 -12 0.689 oddsRatioConfidenceIntervalLower 0.767 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080140 385754 38114 329.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PAPPA2 Whole body fat free mass (23101) EFO_0004995 3.75e-14 3.75 -14 "" -0.12 -0.071 -0.096 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 2008.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - atorvastatin EFO_0007010 1.02e-16 1.02 -16 4.793 oddsRatioConfidenceIntervalLower 6.939 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078178 320758 16654 51.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ALB Albumin (30600) EFO_0004535 1.0300000000000001e-103 1.03 -103 "" -1.232 -1.027 -1.129 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 325.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SPHK1 Lymphocyte count (30120) EFO_0004587 3.76e-13 3.76 -13 "" 0.169 0.293 0.231 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 868.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SH2B3 Platelet crit (30090) EFO_0007985 3.13e-12 3.13 -12 "" 0.299 0.534 0.416 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 215.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Basal metabolic rate (23105) EFO_0007777 1.5e-13 1.5 -13 "" -0.073 -0.043 -0.058 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 5845.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GIGYF1 Cystatin C (30720) EFO_0004617 3.68e-12 3.68 -12 "" 0.331 0.591 0.461 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 154.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Systolic blood pressure automated reading (4080) EFO_0006335 3.53e-13 3.53 -13 "" -0.127 -0.073 -0.1 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079146 408211 408211 4262.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" JAK2 Platelet count (30080) EFO_0004309 1.45e-29 1.45 -29 "" 0.676 0.96 0.818 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 146.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PAM T2D (RGC) MONDO_0005148 8e-12 8.0 -12 1.276 oddsRatioConfidenceIntervalLower 1.369 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 989.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Eosinophil percentage (30210) EFO_0007991 1.92e-50 1.92 -50 "" -0.373 -0.287 -0.33 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 1791.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPTB Mean reticulocyte volume (30260) EFO_0010701 1.47e-23 1.47 -23 "" -1.61 -1.083 -1.346 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 46.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" R3HDM4 High light scatter reticulocyte percentage (30290) EFO_0010700 4.99e-12 4.99 -12 "" 0.345 0.618 0.481 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 181.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PCSK9 Cholesterol (30690) EFO_0004574 9.81e-128 9.81 -128 "" -0.94 -0.798 -0.869 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 649.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR LipidLowering Med (RGC) EFO_0007010 3.93e-108 3.93 -108 3.677 oddsRatioConfidenceIntervalLower 4.127 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 726.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OCA2 Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 1.53e-15 1.53 -15 0.649 oddsRatioConfidenceIntervalLower 0.722 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 485.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD1 ICD10 I12: Hypertensive chronic kidney disease MONDO_0024633 1.38e-25 1.38 -25 24.864 oddsRatioConfidenceIntervalLower 45.412 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079964 387912 1660 25.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CST3 Cystatin C (30720) EFO_0004617 2.2300000000000002e-307 2.23 -307 "" -2.754 -2.524 -2.639 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 211.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SMAD6 6mm strong meridian left (5134) EFO_0004731 8.79e-19 8.79 -19 "" 0.629 0.987 0.808 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079300 89735 89735 95.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYR Ease of skin tanning - Never tan only burn (1727) EFO_0007009 1.75e-22 1.75 -22 2.338 oddsRatioConfidenceIntervalLower 2.773 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 238.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" DTL Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 9.98e-12 9.98 -12 "" -0.455 -0.252 -0.353 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 53.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Leg predicted mass left (23118) EFO_0004302 1.01e-16 1.01 -16 "" 0.264 0.427 0.345 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 197.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ATR Mean corpuscular volume (30040) EFO_0004526 8.91e-16 8.91 -16 "" -0.145 -0.088 -0.116 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 3756.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SRSF2 ICD10 D64.9: Anemia, unspecified EFO_0004272 9.7e-12 9.7 -12 4.552 oddsRatioConfidenceIntervalLower 7.041 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079711 387075 14923 35.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EIF2AK1 Immature reticulocyte fraction (30280) EFO_0010700 1.47e-16 1.47 -16 "" 0.188 0.306 0.247 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 1015.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GP1BA Platelet count (30080) EFO_0004309 3.03e-47 3.03 -47 "" -0.476 -0.362 -0.419 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 902.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R Leg predicted mass left (23118) EFO_0004302 3.8e-19 3.8 -19 "" -0.468 -0.3 -0.384 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 185.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" OCA2 Skin colour - Light olive (1717) EFO_0003784 3.66e-287 3.66 -287 0.306 oddsRatioConfidenceIntervalLower 0.326 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 784.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ATP11C Direct bilirubin (30660) EFO_0004570 5.09e-20 5.09 -20 "" 0.616 0.951 0.783 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 60.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MED17 Mean corpuscular volume (30040) EFO_0004526 8.03e-15 8.03 -15 "" -0.549 -0.328 -0.439 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 243.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RTEL1 Mean sphered cell volume (30270) EFO_0004526 8.93e-15 8.93 -15 "" 0.287 0.481 0.384 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 336.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACVRL1 ICD10 R04.0: Epistaxis EFO_0003895 7.05e-13 7.05 -13 53.477 oddsRatioConfidenceIntervalLower 158.493 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080761 385081 3559 9.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LDLR Blood pressure medication (6177) EFO_0007010 1.84e-19 1.84 -19 0.358 oddsRatioConfidenceIntervalLower 0.448 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079487 69473 51432 177.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC9A3R2 Haematocrit percentage (30030) EFO_0004348 1.8e-14 1.8 -14 "" -0.092 -0.055 -0.073 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 6540.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Leg fat free mass left (23117) EFO_0004995 1.58e-16 1.58 -16 "" -0.756 -0.465 -0.611 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 63.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GP1BB Mean platelet thrombocyte volume (30100) EFO_0004584 1.67e-58 1.67 -58 "" 1.648 2.104 1.876 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 52.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR ICD10 I25.1: Atherosclerotic heart disease of native coronary artery EFO_0001645 1.33e-17 1.33 -17 2.293 oddsRatioConfidenceIntervalLower 2.775 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079978 387911 23129 160.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD1 ICD10 Z45: Encounter for adjustment and management of implanted device EFO_0004542 6.19e-12 6.19 -12 8.576 oddsRatioConfidenceIntervalLower 15.825 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081264 387920 4136 19.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" OCA2 Skin colour - Light olive (1717) EFO_0003784 1.44e-15 1.44 -15 0.161 oddsRatioConfidenceIntervalLower 0.253 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 12.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Whole body fat free mass (23101) EFO_0004995 1e-15 10.0 -16 "" 0.273 0.45 0.361 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 157.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LCORL Seated height (51) EFO_0011011 1.04e-13 1.04 -13 "" 0.265 0.455 0.36 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 219.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANGPTL2 Standing height (50) EFO_0004339 1.07e-17 1.07 -17 "" -0.145 -0.091 -0.118 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1769.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Trunk fat free mass (23129) EFO_0004995 8.93e-23 8.93 -23 "" -0.837 -0.558 -0.698 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 63.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" WNT1 Speed of sound through heel (3146) EFO_0005654 4.74e-14 4.74 -14 "" -0.552 -0.324 -0.438 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 236.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TSHR Non cancer illness code self reported - hypothyroidism myxoedema/ICD10 E03 EFO_1001055 1.54e-11 1.54 -11 2.161 oddsRatioConfidenceIntervalLower 2.703 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077731 329052 18362 111.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CHD2 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 2.28e-22 2.28 -22 255.178 oddsRatioConfidenceIntervalLower 779.382 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 11.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" MYD88 White blood cell leukocyte count (30000) EFO_0004308 3.22e-14 3.22 -14 "" 0.452 0.767 0.609 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 137.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CLDN10 Creatinine (30700) EFO_0004518 4.68e-13 4.68 -13 "" 0.395 0.689 0.542 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 101.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC22A2 Creatinine (30700) EFO_0004518 2.55e-49 2.55 -49 "" 0.248 0.324 0.286 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 1526.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Weight (23098) EFO_0004338 7.43e-16 7.43 -16 "" 0.354 0.581 0.467 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 197.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ALB Calcium (30680) EFO_0004838 1.96e-12 1.96 -12 "" -1.018 -0.574 -0.796 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 71.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GCK Metformin Med (RGC) EFO_0007010 1.71e-11 1.71 -11 13.939 oddsRatioConfidenceIntervalLower 30.025 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081499 320758 12065 15.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A5 Direct bilirubin (30660) EFO_0004570 5.99e-18 5.99 -18 "" 0.158 0.251 0.205 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1488.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GOT1 Aspartate aminotransferase (30650) EFO_0004736 1.05e-127 1.05 -127 "" -2.209 -1.876 -2.042 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 117.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IL33 Atopy CC (RGC) EFO_0002686 5.44e-13 5.44 -13 0.698 oddsRatioConfidenceIntervalLower 0.77 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081463 359926 46691 416.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" POLE Mean sphered cell volume (30270) EFO_0004526 8.66e-15 8.66 -15 "" 0.202 0.338 0.27 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 682.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A1 Total bilirubin (30840) EFO_0004570 1.79e-16 1.79 -16 "" 0.338 0.548 0.443 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9811 9811 335.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL1A1 Non cancer illness code self reported - bone disorder/ICD10 M85 EFO_0004260 1.04e-13 1.04 -13 105.079 oddsRatioConfidenceIntervalLower 358.417 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077770 329052 841 9.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TET2 ICD10 C92: Myeloid leukemia EFO_0002427 3.2900000000000002e-21 3.29 -21 9.96 oddsRatioConfidenceIntervalLower 16.04 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 32.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Seated height (51) EFO_0011011 8.32e-13 8.32 -13 "" 0.23 0.403 0.316 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 263.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LRP5 Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 9.79e-14 9.79 -14 "" -0.76 -0.443 -0.601 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 120.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGFALS Standing height (50) EFO_0004339 2.71e-12 2.71 -12 "" -0.116 -0.065 -0.09 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1996.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LRP5 Speed of sound through heel left (4103) EFO_0005654 1.82e-11 1.82 -11 "" -1.333 -0.731 -1.032 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079150 166283 166283 34.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APC ICD10 D13: Benign neoplasm of other and ill-defined parts of digestive system EFO_0002422 2.3300000000000002e-29 2.33 -29 71.302 oddsRatioConfidenceIntervalLower 149.957 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079664 387696 1532 20.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MYOC ICD10 H40.9: Unspecified glaucoma EFO_0000516 1.02e-14 1.02 -14 3.423 oddsRatioConfidenceIntervalLower 4.675 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079908 387930 3672 59.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Basal metabolic rate (23105) EFO_0007777 2.1700000000000002e-29 2.17 -29 "" 0.18 0.256 0.218 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CRISPLD2 Standing height (50) EFO_0004339 1.36e-25 1.36 -25 "" -0.121 -0.083 -0.102 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 3504.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A1 Total bilirubin (30840) EFO_0004570 1.79e-16 1.79 -16 "" 0.338 0.548 0.443 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9811 9811 335.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NRK Standing height (50) EFO_0004339 6.07e-12 6.07 -12 "" 0.187 0.337 0.262 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 148.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS10 Standing height (50) EFO_0004339 6.4e-18 6.4 -18 "" -0.757 -0.477 -0.617 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 65.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APC ICD10 Z90.4: Acquired absence of other specified parts of digestive tract EFO_0000405 1.4400000000000001e-21 1.44 -21 16.973 oddsRatioConfidenceIntervalLower 30.37 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081392 387855 8508 26.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" STAB1 Total protein (30860) EFO_0004536 7.22e-15 7.22 -15 "" 0.071 0.119 0.095 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 6132.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANK1 Mean sphered cell volume (30270) EFO_0004526 8.51e-15 8.51 -15 "" -0.799 -0.477 -0.638 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 123.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R IGF 1 (30770) EFO_0004627 7.43e-13 7.43 -13 "" 0.764 1.339 1.051 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 37.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" NF1 Non cancer illness code self reported - other neurological problem/ICD10 G98 EFO_0000618 5.05e-38 5.05 -38 31.477 oddsRatioConfidenceIntervalLower 53.18 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077843 329052 1701 35.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FCGRT Albumin (30600) EFO_0004535 2.67e-35 2.67 -35 "" -2.198 -1.598 -1.898 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 38.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Arm fat free mass right (23121) EFO_0004995 1.8800000000000002e-27 1.88 -27 "" -0.109 -0.076 -0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 4403.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FANCA Hair colour natural before greying - Dark brown (1747) EFO_0007822 6.76e-12 6.76 -12 1.195 oddsRatioConfidenceIntervalLower 1.257 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 3025.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Arm predicted mass right (23122) EFO_0004302 2.33e-28 2.33 -28 "" -0.142 -0.099 -0.121 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 2642.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Impedance of arm right (23109) HP_0000924 2.87e-18 2.87 -18 "" 0.142 0.224 0.183 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 987.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" TET2 Red blood cell erythrocyte count (30010) EFO_0004305 4.23e-12 4.23 -12 "" -0.165 -0.092 -0.128 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 1794.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB Alkaline phosphatase (30610) EFO_0004533 3.57e-15 3.57 -15 "" -0.328 -0.197 -0.262 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 700.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS17 Impedance of arm left (23110) HP_0000924 1.65e-11 1.65 -11 "" -0.288 -0.158 -0.223 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 394.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SHBG Heel bone mineral density BMD T score automated (78) EFO_0009270 1.08e-11 1.08 -11 "" 0.067 0.122 0.095 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 4045.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC2A9 Urate (30880) EFO_0004531 1.03e-41 1.03 -41 "" -1.033 -0.772 -0.902 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 148.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 4.67e-14 4.67 -14 4.855 oddsRatioConfidenceIntervalLower 7.32 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 37.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Haematocrit percentage (30030) EFO_0004348 1.64e-27 1.64 -27 "" -1.101 -0.764 -0.932 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RASA2 Lymphocyte count (30120) EFO_0004587 5.35e-15 5.35 -15 "" -0.294 -0.176 -0.235 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 970.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Arm predicted mass right (23122) EFO_0004302 4.23e-13 4.23 -13 "" 0.236 0.411 0.323 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 157.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Total bilirubin (30840) EFO_0004570 1.69e-13 1.69 -13 "" 0.416 0.718 0.567 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 105.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" WNT1 Heel broadband ultrasound attenuation left (4101) EFO_0004514 1.16e-11 1.16 -11 "" -0.593 -0.327 -0.46 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079149 166276 166276 167.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANK1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.06e-11 1.06 -11 "" -0.1 -0.056 -0.078 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 5897.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MPO Monocyte percentage (30190) EFO_0007989 2.42e-50 2.42 -50 "" -0.182 -0.139 -0.16 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 7086.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Sitting height (20015) EFO_0011011 1.71e-16 1.71 -16 "" 0.119 0.194 0.157 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1214.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASXL1 Past tobacco smoking - I have never smoked (1249) EFO_0005671 5.47e-12 5.47 -12 0.616 oddsRatioConfidenceIntervalLower 0.707 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077586 397089 171084 273.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ALPL Alkaline phosphatase (30610) EFO_0004533 2.2300000000000002e-307 2.23 -307 "" -1.703 -1.624 -1.663 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 1910.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Hip circumference (49) EFO_0005093 8.74e-22 8.74 -22 "" 0.232 0.351 0.292 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079253 430214 430214 954.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MAP3K15 Glycated haemoglobin HbA1c (30750) EFO_0004541 3.74e-17 3.74 -17 "" -0.106 -0.066 -0.086 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 3929.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GP1BA Platelet count (30080) EFO_0004309 1.8200000000000001e-47 1.82 -47 "" -1.074 -0.818 -0.946 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 178.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CUBN Microalbumin in urine (30500) EFO_0010967 2.98e-19 2.98 -19 "" 0.185 0.289 0.237 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 1393.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" POLE Mean reticulocyte volume (30260) EFO_0010701 2.96e-15 2.96 -15 "" 0.055 0.091 0.073 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 10085.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Leg predicted mass right (23114) EFO_0004302 1.18e-13 1.18 -13 "" -0.507 -0.295 -0.401 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 115.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.1399999999999999e-23 1.14 -23 2.463 oddsRatioConfidenceIntervalLower 2.937 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 190.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SRSF2 ICD10 D70: Neutropenia MONDO_0001475 6.149999999999999e-28 6.15 -28 17.495 oddsRatioConfidenceIntervalLower 29.19 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079716 387075 4407 33.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC ICD10 D12.6: Benign neoplasm of colon, unspecified EFO_0002422 3.66e-30 3.66 -30 47.964 oddsRatioConfidenceIntervalLower 93.242 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079659 387930 2672 24.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Whole body fat free mass (23101) EFO_0004995 2.14e-18 2.14 -18 "" -0.909 -0.577 -0.743 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 44.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" POLE Mean reticulocyte volume (30260) EFO_0010701 4.34e-39 4.34 -39 "" 0.167 0.226 0.196 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 3741.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IFRD2 High light scatter reticulocyte count (30300) EFO_0007986 4.64e-38 4.64 -38 "" 0.296 0.403 0.35 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1171.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN ICD10 I50: Heart failure EFO_0003144 1.92e-21 1.92 -21 2.085 oddsRatioConfidenceIntervalLower 2.426 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080023 387076 8159 226.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LIPC HDL cholesterol (30760) EFO_0004612 9.010000000000001e-32 9.01 -32 "" 0.34 0.477 0.409 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 559.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOB Treatment or Medication Code - simvastatin EFO_0007010 1.11e-12 1.11 -12 0.32 oddsRatioConfidenceIntervalLower 0.438 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078009 320758 51781 31.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.59e-14 1.59 -14 "" 1.326 2.235 1.781 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SPATA33 Ease of skin tanning - Get very tanned (1727) EFO_0007009 9.82e-13 9.82 -13 1.292 oddsRatioConfidenceIntervalLower 1.386 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 1186.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB Vitamin D (30890) EFO_0004631 3.24e-52 3.24 -52 "" 0.48 0.622 0.551 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 687.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SF3B1 ICD10 C91: Lymphoid leukemia EFO_0004289 2.22e-18 2.22 -18 17.97 oddsRatioConfidenceIntervalLower 34.333 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 20.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APC ICD10 D12.8: Benign neoplasm of rectum EFO_0002422 1.01e-12 1.01 -12 16.669 oddsRatioConfidenceIntervalLower 36.126 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079661 387930 4111 14.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Impedance of arm left (23110) HP_0000924 1.26e-32 1.26 -32 "" 0.128 0.178 0.153 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 2646.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGFALS IGF 1 (30770) EFO_0004627 3.73e-136 3.73 -136 "" -0.402 -0.343 -0.373 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 3579.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RTTN Mean reticulocyte volume (30260) EFO_0010701 3.23e-12 3.23 -12 "" -0.11 -0.062 -0.086 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 5584.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CST9L Cystatin C (30720) EFO_0004617 1.55e-11 1.55 -11 "" -0.481 -0.265 -0.373 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 237.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ATM DD Cancer - Yes (2453) EFO_0000311 8.52e-13 8.52 -13 1.464 oddsRatioConfidenceIntervalLower 1.626 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 455.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OCA2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 9.239999999999999e-111 9.24 -111 2.527 oddsRatioConfidenceIntervalLower 2.741 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 1094.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBQ1 Mean corpuscular haemoglobin (30050) EFO_0004527 6.72e-25 6.72 -25 "" -0.885 -0.602 -0.744 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 233.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS17 Forced expiratory volume in 1 second FEV1 (3063) EFO_0004314 1.91e-11 1.91 -11 "" -0.098 -0.054 -0.076 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079017 395451 395451 3829.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NOTCH1 Lymphocyte percentage (30180) EFO_0007993 4.6800000000000005e-27 4.68 -27 "" 1.194 1.725 1.46 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 47.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RHAG Mean corpuscular haemoglobin concentration (30060) EFO_0004528 1.4400000000000001e-21 1.44 -21 "" 0.339 0.514 0.426 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 463.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GFPT2 Trunk fat free mass (23129) EFO_0004995 9.59e-12 9.59 -12 "" -0.092 -0.051 -0.071 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 2921.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PCSK9 Cholesterol (30690) EFO_0004574 5.91e-39 5.91 -39 "" -0.81 -0.598 -0.704 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 291.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 6.48e-13 6.48 -13 9.703 oddsRatioConfidenceIntervalLower 18.026 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 21.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" COL4A4 Microalbumin in urine (30500) EFO_0010967 7.46e-57 7.46 -57 "" 0.636 0.815 0.726 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 463.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MSH6 DD Cancer - Yes (2453) EFO_0000311 3.68e-12 3.68 -12 2.454 oddsRatioConfidenceIntervalLower 3.161 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 91.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN ICD10 I51: Complications and ill-defined descriptions of heart disease EFO_0003777 2.08e-11 2.08 -11 1.934 oddsRatioConfidenceIntervalLower 2.346 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080027 385880 6712 133.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ITGB3 Mean platelet thrombocyte volume (30100) EFO_0004584 5.1e-16 5.1 -16 "" 0.105 0.172 0.139 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 2455.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PCSK9 Apolipoprotein B (30640) EFO_0004615 2.22e-40 2.22 -40 "" -1.25 -0.929 -1.089 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 126.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ASXL1 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 2.31e-17 2.31 -17 8.012 oddsRatioConfidenceIntervalLower 12.962 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 30.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYRP1 Skin colour - Very fair (1717) EFO_0003784 9.63e-21 9.63 -21 2.139 oddsRatioConfidenceIntervalLower 2.509 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 229.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CEBPE Monocyte count (30130) EFO_0005091 3.57e-12 3.57 -12 "" 0.054 0.096 0.075 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 6983.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FGD1 Impedance of arm right (23109) HP_0000924 6.58e-12 6.58 -12 "" -0.342 -0.19 -0.266 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 158.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LDLR ICD10 E78: Disorders of lipoprotein metabolism and other lipidemias Orphanet_79062 1.2500000000000001e-70 1.25 -70 3.023 oddsRatioConfidenceIntervalLower 3.416 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079768 372199 51365 490.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TMPRSS6 Mean corpuscular volume (30040) EFO_0004526 4.82e-56 4.82 -56 "" -0.368 -0.287 -0.328 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1822.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C80: Malignant neoplasm without specification of site EFO_0000616 4.21e-17 4.21 -17 5.313 oddsRatioConfidenceIntervalLower 7.842 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079632 387252 2342 42.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 1.17e-19 1.17 -19 3.423 oddsRatioConfidenceIntervalLower 4.465 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 86.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Pulse rate automated reading (102) EFO_0004326 2.3600000000000002e-26 2.36 -26 "" 0.271 0.394 0.332 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 952.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" GATA5 Cystatin C (30720) EFO_0004617 1.78e-11 1.78 -11 "" -0.09 -0.049 -0.069 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 6884.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR Non cancer illness code self reported - angina EFO_0003913 2.02e-15 2.02 -15 2.464 oddsRatioConfidenceIntervalLower 3.078 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077655 331754 14285 114.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A10 Direct bilirubin (30660) EFO_0004570 1.72e-59 1.72 -59 "" 0.311 0.396 0.353 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1766.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Non cancer illness code self reported - atrial fibrillation/ICD10 I48 EFO_0000275 1.13e-12 1.13 -12 4.527 oddsRatioConfidenceIntervalLower 6.862 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077882 329052 3763 36.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" LCORL Basal metabolic rate (23105) EFO_0007777 6.26e-15 6.26 -15 "" 0.216 0.361 0.289 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 257.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" POLE Mean corpuscular haemoglobin (30050) EFO_0004527 1.15e-16 1.15 -16 "" 0.212 0.344 0.278 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 689.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK Non cancer illness code self reported - diabetes EFO_0000400 3.52e-17 3.52 -17 4.922 oddsRatioConfidenceIntervalLower 7.131 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077722 331754 17927 51.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PLIN1 Apolipoprotein A (30630) EFO_0004732 5.06e-13 5.06 -13 "" 0.162 0.283 0.223 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 766.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZNF12 IGF 1 (30770) EFO_0004627 1.12e-18 1.12 -18 "" 0.471 0.74 0.605 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 171.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC4A1 Mean reticulocyte volume (30260) EFO_0010701 7.68e-21 7.68 -21 "" -0.546 -0.357 -0.452 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 359.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ZNF770 SHBG (30830) EFO_0004696 1.8e-18 1.8 -18 "" 0.62 0.976 0.798 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 82.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OR51V1 Mean corpuscular haemoglobin (30050) EFO_0004527 3.91e-18 3.91 -18 "" -1.252 -0.791 -1.021 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 75.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGFALS Arm predicted mass right (23122) EFO_0004302 4.93e-13 4.93 -13 "" -0.116 -0.067 -0.092 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 1957.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R Whole body water mass (23102) EFO_0009805 7.44e-15 7.44 -15 "" -0.143 -0.085 -0.114 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 1485.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FLG Age hay fever rhinitis or eczema diagnosed (3761) EFO_0003956 1.7999999999999998e-35 1.8 -35 "" -0.246 -0.179 -0.213 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079072 88602 88602 3170.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 5.88e-12 5.88 -12 "" -2.301 -1.281 -1.791 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Apolipoprotein A (30630) EFO_0004732 5.66e-13 5.66 -13 "" -0.192 -0.11 -0.151 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1642.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APC ICD10 Z83.7: Family history of diseases of the digestive system EFO_0000493 8.16e-20 8.16 -20 54.591 oddsRatioConfidenceIntervalLower 129.067 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081342 387433 947 14.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ENG ICD10 I78: Diseases of capillaries EFO_0004264 1.32e-20 1.32 -20 60.077 oddsRatioConfidenceIntervalLower 142.331 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 14.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 1.04e-103 1.04 -103 "" -2.306 -1.922 -2.114 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TNRC6B Hand grip strength left (46) EFO_0006941 4.6e-16 4.6 -16 "" -0.74 -0.452 -0.596 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 83.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GCK ICD10 E11.9: Type 2 diabetes mellitus without complications MONDO_0005148 1.96e-24 1.96 -24 24.365 oddsRatioConfidenceIntervalLower 45.001 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079741 385838 26590 32.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A7 Total bilirubin (30840) EFO_0004570 2.9799999999999998e-53 2.98 -53 "" 0.399 0.515 0.457 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 969.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A9 Total bilirubin (30840) EFO_0004570 9.240000000000001e-32 9.24 -32 "" 0.464 0.651 0.558 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 379.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKHD1 Gamma glutamyltransferase (30730) EFO_0004532 1.1700000000000001e-21 1.17 -21 "" 0.09 0.136 0.113 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 5327.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NOTCH1 White blood cell leukocyte count (30000) EFO_0004308 1.2500000000000001e-22 1.25 -22 "" 1.073 1.61 1.341 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 47.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" R3HDM4 High light scatter reticulocyte percentage (30290) EFO_0010700 4.99e-12 4.99 -12 "" 0.345 0.618 0.481 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 181.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 Mothers age at death (3526) EFO_0007796 3.18e-20 3.18 -20 "" -0.493 -0.32 -0.406 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 469.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GCK Non cancer illness code self reported - type 2 diabetes/ICD10 E11 MONDO_0005148 5.65e-15 5.65 -15 16.597 oddsRatioConfidenceIntervalLower 33.585 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077725 329052 3203 17.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" NPR3 Comparative height size at age 10 - Taller (1697) EFO_0004339 8.34e-15 8.34 -15 1.29 oddsRatioConfidenceIntervalLower 1.375 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 1532.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASXL1 Eosinophil percentage (30210) EFO_0007991 9.58e-13 9.58 -13 "" -0.249 -0.142 -0.195 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 1165.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean reticulocyte volume (30260) EFO_0010701 9.289999999999999e-42 9.29 -42 "" -1.599 -1.194 -1.396 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9692 9692 99.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IQGAP2 Mean platelet thrombocyte volume (30100) EFO_0004584 3.06e-300 3.06 -300 "" 0.305 0.339 0.322 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 9656.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLT3 Monocyte count (30130) EFO_0005091 1.55e-19 1.55 -19 "" 0.185 0.287 0.236 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 1180.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NOTCH1 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 1.1100000000000001e-32 1.11 -32 306.222 oddsRatioConfidenceIntervalLower 785.793 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 17.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Monocyte percentage (30190) EFO_0007989 3.63e-15 3.63 -15 "" 0.2 0.333 0.266 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 708.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" TUBB1 Platelet distribution width (30110) EFO_0007984 2.2300000000000002e-307 2.23 -307 "" 0.979 1.065 1.022 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1677.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Haemoglobin concentration (30020) EFO_0004509 1.27e-133 1.27 -133 "" -2.008 -1.712 -1.86 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 98.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" JAK2 IGF 1 (30770) EFO_0004627 1.52e-20 1.52 -20 "" -0.392 -0.256 -0.324 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 655.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ZFAT Leg fat free mass right (23113) EFO_0004995 1.24e-21 1.24 -21 "" 0.111 0.169 0.14 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 1595.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NR1H3 HDL cholesterol (30760) EFO_0004612 1.12e-11 1.12 -11 "" 0.242 0.438 0.34 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 270.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR Cholesterol lowering medication (6177) EFO_0007010 6.27e-18 6.27 -18 3.604 oddsRatioConfidenceIntervalLower 4.822 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079486 69473 49091 303.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ATM White blood cell leukocyte count (30000) EFO_0004308 6.31e-12 6.31 -12 "" 0.051 0.091 0.071 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 8517.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NPR2 Seated height (51) EFO_0011011 2.21e-16 2.21 -16 "" -0.2 -0.123 -0.161 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 1332.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 Reticulocyte percentage (30240) EFO_0010700 7.72e-43 7.72 -43 "" 1.798 2.397 2.098 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 38.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" WNT1 Heel bone mineral density BMD (3148) EFO_0009270 8.3e-15 8.3 -15 "" -0.57 -0.34 -0.455 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 226.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GCK T2D (RGC) MONDO_0005148 3.37e-24 3.37 -24 16.272 oddsRatioConfidenceIntervalLower 27.887 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 37.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" SLCO1B3 Total bilirubin (30840) EFO_0004570 2.88e-17 2.88 -17 "" 0.208 0.334 0.271 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 618.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TP53 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 1.33e-14 1.33 -14 26.521 oddsRatioConfidenceIntervalLower 61.064 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 13.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ZFAT Whole body fat free mass (23101) EFO_0004995 5.59e-69 5.59 -69 "" 0.108 0.135 0.121 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 6712.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LPL HDL cholesterol (30760) EFO_0004612 5.4e-20 5.4 -20 "" -0.803 -0.52 -0.662 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 130.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CST9L Cystatin C (30720) EFO_0004617 1.55e-11 1.55 -11 "" -0.481 -0.265 -0.373 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 237.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASGR1 LDL direct (30780) EFO_0004611 2.33e-14 2.33 -14 "" -0.322 -0.19 -0.256 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 765.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RTEL1 Mean corpuscular haemoglobin (30050) EFO_0004527 1.29e-18 1.29 -18 "" 0.155 0.243 0.199 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1520.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RTEL1 Platelet crit (30090) EFO_0007985 1.67e-12 1.67 -12 "" -0.203 -0.115 -0.159 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 1518.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ATR Mean sphered cell volume (30270) EFO_0004526 1.27e-19 1.27 -19 "" -0.165 -0.106 -0.136 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 3704.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Ankle spacing width left (4100) EFO_0004324 1.18e-13 1.18 -13 "" 0.084 0.144 0.114 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079148 166283 166283 2758.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Seated height (51) EFO_0011011 1.21e-26 1.21 -26 "" 0.262 0.38 0.321 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 568.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SRSF2 Reticulocyte percentage (30240) EFO_0010700 3.18e-38 3.18 -38 "" 0.782 1.061 0.921 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 175.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Trunk fat free mass (23129) EFO_0004995 8.93e-23 8.93 -23 "" -0.837 -0.558 -0.698 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 63.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Hand grip strength left (46) EFO_0006941 5.49e-17 5.49 -17 "" -0.104 -0.065 -0.084 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 4482.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN ICD10 I42: Cardiomyopathy EFO_0000318 3.54e-56 3.54 -56 8.954 oddsRatioConfidenceIntervalLower 11.754 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 98.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PCSK9 Apolipoprotein B (30640) EFO_0004615 5.16e-162 5.16 -162 "" -1.062 -0.919 -0.99 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 635.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CXCL6 Neutrophil percentage (30200) EFO_0007990 8.31e-17 8.31 -17 "" -0.124 -0.077 -0.1 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 6207.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL27A1 Standing height (50) EFO_0004339 8.21e-13 8.21 -13 "" -0.421 -0.24 -0.331 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 157.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CAD Mean corpuscular haemoglobin (30050) EFO_0004527 7.53e-13 7.53 -13 "" 0.141 0.247 0.194 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1068.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PAPPA2 Leg predicted mass left (23118) EFO_0004302 8.92e-13 8.92 -13 "" -0.133 -0.076 -0.104 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 1621.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOC3 HDL cholesterol (30760) EFO_0004612 5.97e-13 5.97 -13 "" 0.552 0.965 0.758 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 61.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS17 Forced vital capacity FVC Best measure (20151) EFO_0004312 1.08e-14 1.08 -14 "" -0.115 -0.068 -0.092 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078317 322002 322002 3138.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.75e-114 1.75 -114 "" 1.941 2.307 2.124 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 98.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A9 Direct bilirubin (30660) EFO_0004570 5.010000000000001e-47 5.01 -47 "" 0.366 0.481 0.424 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 963.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TMPRSS6 Mean corpuscular haemoglobin (30050) EFO_0004527 5.649999999999999e-45 5.65 -45 "" -0.748 -0.565 -0.656 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 361.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SF3B1 Mean sphered cell volume (30270) EFO_0004526 1.44e-12 1.44 -12 "" 0.236 0.416 0.326 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 390.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOA1 Apolipoprotein A (30630) EFO_0004732 1.22e-33 1.22 -33 "" -1.62 -1.168 -1.394 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 54.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 7.88e-15 7.88 -15 3.71 oddsRatioConfidenceIntervalLower 5.163 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 61.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ASXL1 ICD10 A41: Other sepsis HP_0100806 1.08e-11 1.08 -11 2.738 oddsRatioConfidenceIntervalLower 3.661 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079546 387463 5918 65.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MIP Non cancer illness code self reported - cataract MONDO_0005129 7.01e-13 7.01 -13 5.992 oddsRatioConfidenceIntervalLower 9.769 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077756 331754 8629 29.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PAPPA2 Arm predicted mass right (23122) EFO_0004302 1.04e-13 1.04 -13 "" -0.131 -0.076 -0.104 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 1620.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Arm predicted mass right (23122) EFO_0004302 1.0800000000000001e-27 1.08 -27 "" -0.109 -0.076 -0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 4403.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RRBP1 Cholesterol (30690) EFO_0004574 1.32e-13 1.32 -13 "" -0.555 -0.322 -0.439 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 239.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" EP400 Hand grip strength left (46) EFO_0006941 8.45e-16 8.45 -16 "" -0.684 -0.416 -0.55 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 96.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" ABCG2 Urate (30880) EFO_0004531 1.21e-21 1.21 -21 "" 0.2 0.303 0.252 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 951.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean corpuscular volume (30040) EFO_0004526 4.71e-17 4.71 -17 "" -2.76 -1.715 -2.237 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Eosinophil percentage (30210) EFO_0007991 2.65e-47 2.65 -47 "" -0.394 -0.3 -0.347 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 1515.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ZFAT Whole body fat free mass (23101) EFO_0004995 7.59e-13 7.59 -13 "" 0.225 0.395 0.31 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 170.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LPL Triglycerides (30870) EFO_0004530 7.97e-30 7.97 -30 "" 0.32 0.454 0.387 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 705.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Seated height (51) EFO_0011011 8.32e-13 8.32 -13 "" 0.23 0.403 0.316 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 263.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ALPL Alkaline phosphatase (30610) EFO_0004533 1.13e-12 1.13 -12 "" -2.376 -1.349 -1.862 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8544 8544 14.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR Blood pressure medication (6177) EFO_0007010 2.58e-17 2.58 -17 0.176 oddsRatioConfidenceIntervalLower 0.263 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079487 69473 51432 36.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APOB LDL direct (30780) EFO_0004611 1.96e-91 1.96 -91 "" -1.975 -1.627 -1.801 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 110.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" TFRC Mean corpuscular haemoglobin (30050) EFO_0004527 2.44e-14 2.44 -14 "" -0.317 -0.187 -0.252 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 717.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANKRD12 Index of Multiple Deprivation England (26410) EFO_0009711 9.19e-13 9.19 -13 "" 0.304 0.534 0.419 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078952 369491 369491 273.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PTPRJ Mean platelet thrombocyte volume (30100) EFO_0004584 7.23e-25 7.23 -25 "" -0.581 -0.395 -0.488 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 317.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.08e-18 1.08 -18 1.508 oddsRatioConfidenceIntervalLower 1.651 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 604.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IFT140 ICD10 N28: Other disorders of kidney and ureter, not elsewhere classified EFO_0009690 1.09e-16 1.09 -16 5.464 oddsRatioConfidenceIntervalLower 8.161 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080595 387002 3413 40.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SF3B1 Mean reticulocyte volume (30260) EFO_0010701 1.67e-14 1.67 -14 "" 0.265 0.447 0.356 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 390.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GP1BA Mean platelet thrombocyte volume (30100) EFO_0004584 4.63e-114 4.63 -114 "" 0.584 0.694 0.639 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 902.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NPC1 Mean sphered cell volume (30270) EFO_0004526 6.38e-13 6.38 -13 "" -0.169 -0.097 -0.133 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 2705.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TSHR Non cancer illness code self reported - hypothyroidism myxoedema EFO_1001055 6.82e-12 6.82 -12 3.092 oddsRatioConfidenceIntervalLower 4.269 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 61.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 4.43e-25 4.43 -25 11.344 oddsRatioConfidenceIntervalLower 17.972 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 36.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.8000000000000002e-158 1.8 -158 "" 1.967 2.277 2.122 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 98.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PIEZO1 Seated height (51) EFO_0011011 1.04e-13 1.04 -13 "" -0.098 -0.057 -0.077 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 4765.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Hand grip strength right (47) EFO_0006941 1.34e-15 1.34 -15 "" -0.129 -0.078 -0.104 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 2692.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" FLG Vitamin D (30890) EFO_0004631 4.92e-15 4.92 -15 "" 0.095 0.158 0.126 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 3485.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LCORL Leg predicted mass right (23114) EFO_0004302 2.9e-14 2.9 -14 "" 0.205 0.347 0.276 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 257.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z40: Encounter for prophylactic surgery EFO_0009580 5.93e-14 5.93 -14 1.861 oddsRatioConfidenceIntervalLower 2.188 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081254 347298 40136 212.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IRS1 Basal metabolic rate (23105) EFO_0007777 1.41e-20 1.41 -20 "" -0.567 -0.369 -0.468 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 140.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Arm fat free mass right (23121) EFO_0004995 3.4e-36 3.4 -36 "" 0.109 0.149 0.129 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 3011.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TUBB1 Platelet distribution width (30110) EFO_0007984 2.2300000000000002e-307 2.23 -307 "" 1.772 1.953 1.862 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 382.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBA2 Mean corpuscular haemoglobin (30050) EFO_0004527 4.22e-20 4.22 -20 "" -1.576 -1.021 -1.299 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 39.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANGPTL7 3mm weak meridian left (5096) EFO_0004731 1.63e-13 1.63 -13 "" 0.114 0.196 0.155 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 1843.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NRK Sitting height (20015) EFO_0011011 1.37e-11 1.37 -11 "" 0.21 0.382 0.296 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 148.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" EPB41 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.87e-19 1.87 -19 "" 0.485 0.754 0.619 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 182.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCA1 Apolipoprotein A (30630) EFO_0004732 4.65e-127 4.65 -127 "" -0.87 -0.739 -0.804 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 639.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MAMDC2 Corneal hysteresis right (5256) EFO_0010066 2.58e-14 2.58 -14 "" 0.161 0.273 0.217 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079335 105888 105888 1123.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean reticulocyte volume (30260) EFO_0010701 4.76e-47 4.76 -47 "" -1.529 -1.163 -1.346 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 96.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - atorvastatin EFO_0007010 1.9799999999999997e-48 1.98 -48 3.465 oddsRatioConfidenceIntervalLower 4.093 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078178 320758 16654 229.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Arm fat percentage left (23123) EFO_0007800 1.57e-12 1.57 -12 "" 0.258 0.455 0.356 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078926 423545 423545 197.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Non cancer illness code self reported - atrial fibrillation EFO_0000275 1.17e-19 1.17 -19 3.466 oddsRatioConfidenceIntervalLower 4.534 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077881 331754 3921 81.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" E2F4 Mean reticulocyte volume (30260) EFO_0010701 3.57e-17 3.57 -17 "" 1.207 1.938 1.573 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 24.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CD36 HDL cholesterol (30760) EFO_0004612 7.15e-18 7.15 -18 "" 0.143 0.227 0.185 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1472.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" WNT1 Heel Broadband ultrasound attenuation direct entry (3144) EFO_0004514 6.14e-14 6.14 -14 "" -0.541 -0.317 -0.429 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079049 246304 246304 236.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CXCR4 Neutrophil count (30140) EFO_0004833 6.29e-19 6.29 -19 "" 0.351 0.55 0.45 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 345.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GIGYF1 Education score England (26414) EFO_0011015 1.97e-13 1.97 -13 "" 0.456 0.787 0.621 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078953 369491 369491 132.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Trunk predicted mass (23130) EFO_0004324 3.08e-16 3.08 -16 "" 0.279 0.455 0.367 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 157.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Impedance of whole body (23106) HP_0000924 6.12e-29 6.12 -29 "" 0.127 0.181 0.154 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 2644.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HK1 Glycated haemoglobin HbA1c (30750) EFO_0004541 4.65e-13 4.65 -13 "" -1.461 -0.838 -1.15 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 31.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" TMPRSS6 Mean corpuscular haemoglobin (30050) EFO_0004527 5.649999999999999e-45 5.65 -45 "" -0.748 -0.565 -0.656 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 361.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Platelet count (30080) EFO_0004309 1.64e-17 1.64 -17 "" -0.217 -0.136 -0.176 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1779.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EPB41 High light scatter reticulocyte count (30300) EFO_0007986 1.39e-13 1.39 -13 "" 0.379 0.653 0.516 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 178.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RNF186 Creatinine (30700) EFO_0004518 8.379999999999999e-24 8.38 -24 "" 0.203 0.301 0.252 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 908.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Impedance of leg left (23108) HP_0000924 3.11e-17 3.11 -17 "" 0.083 0.133 0.108 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 4408.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANGPTL2 Standing height (50) EFO_0004339 3.68e-12 3.68 -12 "" -0.183 -0.103 -0.143 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 795.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A6 Direct bilirubin (30660) EFO_0004570 2.78e-38 2.78 -38 "" 0.294 0.399 0.347 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1161.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PTPRJ Trunk fat free mass (23129) EFO_0004995 1.57e-11 1.57 -11 "" -0.276 -0.152 -0.214 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 316.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EXOC3L4 Gamma glutamyltransferase (30730) EFO_0004532 8.91e-14 8.91 -14 "" -0.314 -0.183 -0.249 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 668.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR Non cancer illness code self reported - angina/ICD10 I20 EFO_0003913 1.28e-15 1.28 -15 2.327 oddsRatioConfidenceIntervalLower 2.862 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077656 329052 13585 129.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 High light scatter reticulocyte percentage (30290) EFO_0010700 9.29e-26 9.29 -26 "" 0.191 0.279 0.235 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1754.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NOTCH1 Lymphocyte count (30120) EFO_0004587 9.239999999999999e-30 9.24 -30 "" 1.279 1.813 1.546 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 47.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LOXL2 Standing height (50) EFO_0004339 8.18e-12 8.18 -12 "" 0.05 0.09 0.07 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 3232.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IHH Standing height (50) EFO_0004339 4.6e-31 4.6 -31 "" -0.307 -0.218 -0.263 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 660.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TADA1 Platelet count (30080) EFO_0004309 2.17e-13 2.17 -13 "" -0.443 -0.256 -0.35 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 339.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 1.4099999999999999e-24 1.41 -24 "" -1.248 -0.847 -1.047 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8544 8544 83.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ATM ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 1.59e-11 1.59 -11 2.681 oddsRatioConfidenceIntervalLower 3.571 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 68.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Trunk fat free mass (23129) EFO_0004995 2.55e-16 2.55 -16 "" 0.281 0.457 0.369 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 157.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Mean platelet thrombocyte volume (30100) EFO_0004584 3.62e-16 3.62 -16 "" 0.124 0.202 0.163 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1779.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IRS1 Weight (21002) EFO_0004338 1.65e-11 1.65 -11 "" -0.589 -0.324 -0.456 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 145.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GP1BA Platelet crit (30090) EFO_0007985 8.39e-12 8.39 -12 "" -0.579 -0.321 -0.45 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 176.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PDE10A IGF 1 (30770) EFO_0004627 2.57e-14 2.57 -14 "" 0.272 0.461 0.367 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 346.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FLG Vitamin D (30890) EFO_0004631 7.74e-40 7.74 -40 "" 0.096 0.129 0.113 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 12731.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IHH Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 1.57e-12 1.57 -12 "" -0.469 -0.265 -0.367 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 53.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ASXL1 Ever smoked - Yes (20160) EFO_0006527 6.19e-20 6.19 -20 1.851 oddsRatioConfidenceIntervalLower 2.112 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078324 429301 263214 934.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SCUBE3 Arm fat free mass left (23125) EFO_0004995 7.48e-13 7.48 -13 "" -0.116 -0.066 -0.091 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 2062.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Neutrophil count (30140) EFO_0004833 8.74e-19 8.74 -19 "" -0.242 -0.154 -0.198 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 1777.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Pulse rate automated reading (102) EFO_0004326 1.4599999999999998e-52 1.46 -52 "" 0.253 0.328 0.291 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 2574.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" WNT1 Speed of sound through heel right (4122) EFO_0005654 1.7e-11 1.7 -11 "" -0.598 -0.328 -0.463 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079156 166358 166358 167.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 Speed of sound through heel (3146) EFO_0005654 8.09e-12 8.09 -12 "" -0.275 -0.152 -0.214 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 815.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Leg predicted mass left (23118) EFO_0004302 5.02e-15 5.02 -15 "" -0.087 -0.052 -0.069 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 4403.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" EGLN1 Haemoglobin concentration (30020) EFO_0004509 2.52e-15 2.52 -15 "" 0.484 0.802 0.643 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 85.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 I12.0: Hypertensive chronic kidney disease with stage 5 chronic kidney disease or end stage renal disease MONDO_0024633 2.72e-24 2.72 -24 26.26 oddsRatioConfidenceIntervalLower 49.3 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079963 387930 1504 23.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GCK ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 4.52e-24 4.52 -24 23.55 oddsRatioConfidenceIntervalLower 43.422 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 32.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 Eosinophil percentage (30210) EFO_0007991 9.58e-13 9.58 -13 "" -0.249 -0.142 -0.195 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 1165.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PAPPA2 IGF 1 (30770) EFO_0004627 1.48e-16 1.48 -16 "" 0.347 0.563 0.455 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 265.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TNFRSF10B Gamma glutamyltransferase (30730) EFO_0004532 4.44e-12 4.44 -12 "" 0.125 0.224 0.174 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1165.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SIX6 Spherical power right (5084) EFO_0004731 6.2e-21 6.2 -21 "" -0.274 -0.179 -0.227 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079267 107475 107475 1505.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GPLD1 Alkaline phosphatase (30610) EFO_0004533 6.5e-152 6.5 -152 "" -0.837 -0.721 -0.779 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 893.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 4.0600000000000004e-32 4.06 -32 3.738 oddsRatioConfidenceIntervalLower 4.654 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 141.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC4A1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.76e-19 1.76 -19 "" -2.211 -1.422 -1.817 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 19.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" MIP Non cancer illness code self reported - cataract MONDO_0005129 1.84e-12 1.84 -12 13.901 oddsRatioConfidenceIntervalLower 28.906 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077756 331754 8629 16.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHEK2 Mean corpuscular haemoglobin (30050) EFO_0004527 2.39e-21 2.39 -21 "" -0.128 -0.084 -0.106 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 6989.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" JAK2 Platelet distribution width (30110) EFO_0007984 1.13e-15 1.13 -15 "" 0.116 0.191 0.154 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 2164.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - rosuvastatin EFO_0007010 1.56e-16 1.56 -16 24.354 oddsRatioConfidenceIntervalLower 51.991 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078225 320758 2905 16.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Comparative body size at age 10 - Thinner (1687) EFO_0009819 2.3e-20 2.3 -20 0.535 oddsRatioConfidenceIntervalLower 0.611 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077588 423612 141504 260.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC Non cancer illness code self reported - rectal or colon adenoma polyps/ICD10 D12 EFO_1000633 1.14e-12 1.14 -12 43.91 oddsRatioConfidenceIntervalLower 124.513 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077868 329052 1492 9.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 1.04e-103 1.04 -103 "" -2.306 -1.922 -2.114 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SPIRE2 Hair colour natural before greying - Red (1747) EFO_0007822 1.4199999999999999e-74 1.42 -74 0.294 oddsRatioConfidenceIntervalLower 0.335 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 143.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 Total bilirubin (30840) EFO_0004570 1.21e-20 1.21 -20 "" 1.158 1.774 1.466 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 25.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" SPTA1 Mean reticulocyte volume (30260) EFO_0010701 1.92e-35 1.92 -35 "" -0.767 -0.558 -0.663 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 299.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TPM4 Platelet count (30080) EFO_0004309 8.69e-14 8.69 -14 "" -1.526 -0.891 -1.208 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 29.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PRSS56 6mm weak meridian right (5098) EFO_0004731 6.11e-12 6.11 -12 "" 0.347 0.624 0.485 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 162.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 2.31e-17 2.31 -17 8.012 oddsRatioConfidenceIntervalLower 12.962 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 30.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TFRC Mean corpuscular haemoglobin (30050) EFO_0004527 3.0499999999999997e-23 3.05 -23 "" -0.582 -0.39 -0.486 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 326.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GCK T2D New Strict CC (RGC) MONDO_0005148 1.63e-13 1.63 -13 26.912 oddsRatioConfidenceIntervalLower 64.549 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081517 352271 11970 14.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Leg predicted mass left (23118) EFO_0004302 1.38e-31 1.38 -31 "" 0.164 0.23 0.197 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CLSPN Mean sphered cell volume (30270) EFO_0004526 8.87e-12 8.87 -12 "" 0.258 0.466 0.362 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 295.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Whole body fat mass (23100) EFO_0005409 5.14e-13 5.14 -13 "" 0.34 0.594 0.467 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078904 423023 423023 197.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A9 Total bilirubin (30840) EFO_0004570 9.240000000000001e-32 9.24 -32 "" 0.464 0.651 0.558 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 379.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCA1 Apolipoprotein A (30630) EFO_0004732 2.2300000000000002e-307 2.23 -307 "" -0.601 -0.547 -0.574 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 3745.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PAPPA2 IGF 1 (30770) EFO_0004627 1.48e-16 1.48 -16 "" 0.347 0.563 0.455 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 265.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOB Non cancer illness code self reported - high cholesterol HP_0003124 1.02e-22 1.02 -22 0.194 oddsRatioConfidenceIntervalLower 0.269 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 23.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS3 Impedance of leg right (23107) HP_0000924 9.11e-40 9.11 -40 "" -0.172 -0.128 -0.15 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 5509.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 Non cancer illness code self reported - other neurological problem/ICD10 G98 EFO_0000618 5.05e-38 5.05 -38 31.477 oddsRatioConfidenceIntervalLower 53.18 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077843 329052 1701 35.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPTB ICD10 D73: Diseases of spleen EFO_0009002 6.79e-17 6.79 -17 90.903 oddsRatioConfidenceIntervalLower 261.982 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079718 387896 692 10.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC4A1 High light scatter reticulocyte percentage (30290) EFO_0010700 9.28e-22 9.28 -22 "" 0.793 1.2 0.996 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 81.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I50: Heart failure EFO_0003144 1.92e-21 1.92 -21 2.085 oddsRatioConfidenceIntervalLower 2.426 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080023 387076 8159 226.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TNFRSF13B Total protein (30860) EFO_0004536 1.4500000000000001e-100 1.45 -100 "" -0.275 -0.229 -0.252 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 6448.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS17 Standing height (50) EFO_0004339 1.74e-53 1.74 -53 "" -0.202 -0.157 -0.179 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2487.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 1.07e-21 1.07 -21 "" -2.022 -1.335 -1.679 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2108 2108 31.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC45A2 Hair colour natural before greying - Blonde (1747) EFO_0007822 5.26e-63 5.26 -63 4.601 oddsRatioConfidenceIntervalLower 5.501 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 254.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 C78: Secondary malignant neoplasm of respiratory and digestive organs EFO_0009812 2.64e-12 2.64 -12 4.171 oddsRatioConfidenceIntervalLower 6.224 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079625 387835 6526 38.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ATP11C Glycated haemoglobin HbA1c (30750) EFO_0004541 6.14e-13 6.14 -13 "" -0.142 -0.081 -0.111 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 2059.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 Cystatin C (30720) EFO_0004617 3.04e-18 3.04 -18 "" 0.254 0.402 0.328 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 476.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" UPB1 Gamma glutamyltransferase (30730) EFO_0004532 8.3e-16 8.3 -16 "" 0.094 0.155 0.125 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 3183.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MFRP SphericalEquivalent l started wearing glasses contacts before 40 (RGC) EFO_0004731 1.01e-13 1.01 -13 "" 0.312 0.536 0.424 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081511 48821 48821 273.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C79: Secondary malignant neoplasm of other and unspecified sites EFO_0009812 1.77e-12 1.77 -12 3.586 oddsRatioConfidenceIntervalLower 5.115 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079629 387728 5376 46.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC5A2 Urate (30880) EFO_0004531 3.93e-15 3.93 -15 "" -0.166 -0.1 -0.133 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 2154.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYR Skin colour - Light olive (1717) EFO_0003784 2.01e-26 2.01 -26 0.692 oddsRatioConfidenceIntervalLower 0.741 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 1037.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Whole body fat free mass (23101) EFO_0004995 4.2900000000000005e-27 4.29 -27 "" 0.125 0.18 0.152 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 1595.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SDPR Mean platelet thrombocyte volume (30100) EFO_0004584 1.48e-13 1.48 -13 "" -0.29 -0.168 -0.229 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 751.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GOT1 Aspartate aminotransferase (30650) EFO_0004736 4.3e-22 4.3 -22 "" -1.558 -1.033 -1.295 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 47.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" GCK T2D New Strict CC (RGC) MONDO_0005148 3.95e-25 3.95 -25 6.493 oddsRatioConfidenceIntervalLower 9.251 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081517 352271 11970 58.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CETP HDL cholesterol (30760) EFO_0004612 2.9600000000000002e-105 2.96 -105 "" 0.855 1.024 0.939 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 379.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKLR High light scatter reticulocyte percentage (30290) EFO_0010700 6.58e-24 6.58 -24 "" 0.252 0.374 0.313 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 916.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" EPB41 Mean sphered cell volume (30270) EFO_0004526 2.2999999999999997e-24 2.3 -24 "" -0.834 -0.565 -0.699 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 178.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MEGF6 FEV1 FVC ratio Z score (20258) EFO_0004713 2.34e-13 2.34 -13 "" 0.08 0.139 0.11 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 4077.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OBSCN Impedance of arm right (23109) HP_0000924 3.9e-18 3.9 -18 "" -0.065 -0.041 -0.053 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 11785.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS17 Forced expiratory volume in 1 second FEV1 Best measure (20150) EFO_0004314 1.7e-14 1.7 -14 "" -0.152 -0.09 -0.121 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078316 322002 322002 1921.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" KDM5B Duration to first press of snap button in each round (404) EFO_0008354 4.35e-14 4.35 -14 "" 0.321 0.546 0.434 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079143 428085 428085 253.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ALPL Alkaline phosphatase (30610) EFO_0004533 1.14e-13 1.14 -13 "" -2.392 -1.393 -1.892 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9849 9849 13.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 1.47e-11 1.47 -11 "" -1.983 -1.091 -1.537 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9830 9830 14.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" ANKRD12 Total protein (30860) EFO_0004536 1.81e-20 1.81 -20 "" -0.631 -0.411 -0.521 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 282.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EXOC3L4 Mean platelet thrombocyte volume (30100) EFO_0004584 7.47e-20 7.47 -20 "" -0.363 -0.235 -0.299 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 661.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC22A2 Lipoprotein A (30790) EFO_0006925 1.3099999999999999e-61 1.31 -61 "" 0.296 0.375 0.336 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079034 329317 329317 2451.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ATP11C Total bilirubin (30840) EFO_0004570 5.79e-16 5.79 -16 "" 0.487 0.798 0.643 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 68.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MLH1 ICD10 Z08.0: Follow-up examination after surgery for malignant neoplasm (Z08.0) EFO_0004542 1.59e-11 1.59 -11 3.081 oddsRatioConfidenceIntervalLower 4.273 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081197 387930 4711 52.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SHBG SHBG (30830) EFO_0004696 2.13e-13 2.13 -13 "" -1.684 -0.975 -1.329 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 22.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" BRCA2 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 8.25e-13 8.25 -13 2.032 oddsRatioConfidenceIntervalLower 2.467 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 131.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CGNL1 Creatinine (30700) EFO_0004518 1.89e-11 1.89 -11 "" 0.25 0.457 0.354 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 206.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Forced vital capacity FVC Best measure (20151) EFO_0004312 4.79e-13 4.79 -13 "" -0.106 -0.061 -0.084 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078317 322002 322002 3321.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MIP ICD10 H26: Other cataract MONDO_0005129 4.05e-18 4.05 -18 13.424 oddsRatioConfidenceIntervalLower 24.134 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079893 384442 20291 27.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I42.0: Dilated cardiomyopathy EFO_0000407 4.3900000000000005e-50 4.39 -50 8.086 oddsRatioConfidenceIntervalLower 10.649 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079998 387930 858 93.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FCGRT Albumin (30600) EFO_0004535 8.809999999999999e-38 8.81 -38 "" -1.625 -1.194 -1.41 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 74.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OR6F1 Mean platelet thrombocyte volume (30100) EFO_0004584 3.06e-16 3.06 -16 "" -0.141 -0.086 -0.114 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 3791.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Haemoglobin concentration (30020) EFO_0004509 1.27e-133 1.27 -133 "" -2.008 -1.712 -1.86 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 98.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOC3 Eosinophil count (30150) EFO_0004842 7.43e-13 7.43 -13 "" 0.102 0.179 0.141 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 2210.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR ICD10 I25: Chronic ischemic heart disease EFO_0003777 9.14e-13 9.14 -13 3.379 oddsRatioConfidenceIntervalLower 4.719 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079982 387110 32706 61.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB Aspartate aminotransferase (30650) EFO_0004736 3.05e-18 3.05 -18 "" 0.233 0.368 0.3 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 697.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HNF1A ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 1.58e-11 1.58 -11 5.739 oddsRatioConfidenceIntervalLower 9.539 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 29.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B High light scatter reticulocyte count (30300) EFO_0007986 1.47e-15 1.47 -15 "" -0.206 -0.125 -0.165 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 2011.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Immature reticulocyte fraction (30280) EFO_0010700 3.87e-16 3.87 -16 "" 0.601 0.982 0.792 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 96.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APC ICD10 Z93.2: Ileostomy status EFO_0002571 1.1e-21 1.1 -21 50.818 oddsRatioConfidenceIntervalLower 113.64 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081413 387887 1429 16.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Weight (21002) EFO_0004338 4.63e-14 4.63 -14 "" 0.113 0.193 0.153 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 1618.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" E2F4 Mean corpuscular volume (30040) EFO_0004526 4.66e-24 4.66 -24 "" 1.468 2.174 1.821 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 24.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CXCR4 Monocyte count (30130) EFO_0005091 4.2e-15 4.2 -15 "" 0.284 0.474 0.379 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 345.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK T2D (RGC) MONDO_0005148 1.02e-26 1.02 -26 26.578 oddsRatioConfidenceIntervalLower 48.468 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 35.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PTPN14 ICD10 C44.3: Other and unspecified malignant neoplasm of skin of other and unspecified parts of face EFO_0004198 2.09e-12 2.09 -12 9.788 oddsRatioConfidenceIntervalLower 18.491 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079596 387930 7572 19.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Seated height (51) EFO_0011011 1.46e-13 1.46 -13 "" 0.307 0.528 0.418 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 161.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC1R Ease of skin tanning - Never tan only burn (1727) EFO_0007009 5.17e-17 5.17 -17 2.609 oddsRatioConfidenceIntervalLower 3.265 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 138.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB High light scatter reticulocyte percentage (30290) EFO_0010700 5.38e-13 5.38 -13 "" 0.502 0.876 0.689 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 96.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC45A2 Skin colour - Very fair (1717) EFO_0003784 4.4e-67 4.4 -67 2.547 oddsRatioConfidenceIntervalLower 2.831 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 554.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK Non cancer illness code self reported - type 2 diabetes/ICD10 E11 MONDO_0005148 5.14e-15 5.14 -15 10.36 oddsRatioConfidenceIntervalLower 18.608 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077725 329052 3203 22.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Basal metabolic rate (23105) EFO_0007777 2.07e-14 2.07 -14 "" 0.352 0.594 0.473 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 92.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TET2 Platelet count (30080) EFO_0004309 9.85e-18 9.85 -18 "" -0.217 -0.136 -0.177 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1794.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HNF1A ICD10 E11.9: Type 2 diabetes mellitus without complications MONDO_0005148 1.04e-11 1.04 -11 5.844 oddsRatioConfidenceIntervalLower 9.72 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079741 385838 26590 29.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" XDH Urate (30880) EFO_0004531 7.05e-15 7.05 -15 "" -0.063 -0.038 -0.05 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 15221.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB Apolipoprotein B (30640) EFO_0004615 2.2300000000000002e-307 2.23 -307 "" -1.768 -1.602 -1.685 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 474.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SPATA33 Skin colour - Light olive (1717) EFO_0003784 8.65e-15 8.65 -15 1.339 oddsRatioConfidenceIntervalLower 1.442 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 1091.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Impedance of whole body (23106) HP_0000924 5.87e-14 5.87 -14 "" 0.125 0.213 0.169 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 986.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 1.27e-11 1.27 -11 20.789 oddsRatioConfidenceIntervalLower 50.027 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 11.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" ACAN Standing height (50) EFO_0004339 5.49e-64 5.49 -64 "" -1.647 -1.305 -1.476 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 44.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" NPR2 Standing height (50) EFO_0004339 3.2e-47 3.2 -47 "" -0.295 -0.225 -0.26 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1036.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC45A2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 4.76e-14 4.76 -14 0.379 oddsRatioConfidenceIntervalLower 0.488 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 75.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MLXIP Mean platelet thrombocyte volume (30100) EFO_0004584 2.17e-15 2.17 -15 "" 0.061 0.101 0.081 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 7327.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GIGYF1 LDL direct (30780) EFO_0004611 1.98e-16 1.98 -16 "" -0.763 -0.47 -0.616 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 153.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APEH Glycated haemoglobin HbA1c (30750) EFO_0004541 2.96e-15 2.96 -15 "" 0.169 0.281 0.225 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 945.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Impedance of leg left (23108) HP_0000924 1.19e-11 1.19 -11 "" 0.054 0.098 0.076 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 5849.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C79.5: Secondary malignant neoplasm of bone and bone marrow EFO_0009812 1e-19 10.0 -20 5.015 oddsRatioConfidenceIntervalLower 7.101 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079627 387930 3104 52.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R Whole body water mass (23102) EFO_0009805 2.46e-14 2.46 -14 "" -0.642 -0.379 -0.511 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 71.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" EGFL8 Non cancer illness code self reported - psoriasis EFO_0000676 3.45e-18 3.45 -18 2.355 oddsRatioConfidenceIntervalLower 2.857 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077855 331754 5389 139.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOC3 Cholesterol lowering medication (6177) EFO_0007010 1.11e-12 1.11 -12 0.433 oddsRatioConfidenceIntervalLower 0.546 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079486 69473 49091 171.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 1.9599999999999997e-30 1.96 -30 14.15 oddsRatioConfidenceIntervalLower 22.257 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 40.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 2.85e-24 2.85 -24 "" -0.697 -0.472 -0.584 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 43.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ATP11C Direct bilirubin (30660) EFO_0004570 7.99e-12 7.99 -12 "" 0.145 0.261 0.203 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 479.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RAB32 Hair colour natural before greying - Blonde (1747) EFO_0007822 1.07e-17 1.07 -17 2.503 oddsRatioConfidenceIntervalLower 3.088 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 150.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APEH Red blood cell erythrocyte distribution width (30070) EFO_0009188 8.41e-16 8.41 -16 "" -0.296 -0.18 -0.238 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 975.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 6mm weak meridian right (5098) EFO_0004731 3.89e-21 3.89 -21 "" 0.468 0.714 0.591 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 204.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PIEZO1 Arm predicted mass left (23126) EFO_0004302 4.81e-13 4.81 -13 "" -0.034 -0.02 -0.027 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 24583.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 9.81e-18 9.81 -18 8.09 oddsRatioConfidenceIntervalLower 13.046 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 31.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Leg predicted mass left (23118) EFO_0004302 1.5e-12 1.5 -12 "" 0.254 0.449 0.352 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 138.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TMPRSS6 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.95e-45 2.95 -45 "" 0.264 0.349 0.306 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1822.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CYP2R1 Vitamin D (30890) EFO_0004631 5.6e-15 5.6 -15 "" -0.61 -0.365 -0.488 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 234.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MLH1 ICD10 Z80.0: Family history of malignant neoplasm of digestive organs EFO_0009640 6.82e-18 6.82 -18 21.705 oddsRatioConfidenceIntervalLower 43.705 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081329 385471 9455 19.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 Type of Cancer: Malignant neoplasm of breast (40006) EFO_0003869 7.49e-12 7.49 -12 3.422 oddsRatioConfidenceIntervalLower 4.866 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079108 41005 12472 79.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PCSK9 LipidLowering Med (RGC) EFO_0007010 1.17e-14 1.17 -14 0.484 oddsRatioConfidenceIntervalLower 0.582 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 129.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Red blood cell erythrocyte count (30010) EFO_0004305 2.36e-12 2.36 -12 "" -0.167 -0.094 -0.13 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 1779.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MSH6 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 9.86e-15 9.86 -15 2.812 oddsRatioConfidenceIntervalLower 3.654 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 89.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MSH2 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 5.5e-21 5.5 -21 17.317 oddsRatioConfidenceIntervalLower 31.385 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 25.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CAD Mean corpuscular volume (30040) EFO_0004526 1.42e-26 1.42 -26 "" 0.53 0.769 0.649 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 210.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADCK3 Mean corpuscular volume (30040) EFO_0004526 4.41e-17 4.41 -17 "" -0.203 -0.126 -0.165 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 2036.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CXCR4 Monocyte count (30130) EFO_0005091 1.46e-17 1.46 -17 "" 0.402 0.642 0.522 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 215.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" JAK2 Platelet crit (30090) EFO_0007985 4.48e-162 4.48 -162 "" 0.475 0.548 0.511 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 2164.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GNB1 Lymphocyte percentage (30180) EFO_0007993 9.77e-14 9.77 -14 "" -0.503 -0.293 -0.398 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 304.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HGS Forced vital capacity FVC (3062) EFO_0004312 7.84e-13 7.84 -13 "" -0.14 -0.08 -0.11 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 1893.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 1.44e-13 1.44 -13 3.103 oddsRatioConfidenceIntervalLower 4.19 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 61.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD2 Creatinine (30700) EFO_0004518 6.36e-12 6.36 -12 "" 0.362 0.651 0.506 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 105.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ATP11C Glycated haemoglobin HbA1c (30750) EFO_0004541 1.45e-14 1.45 -14 "" -0.825 -0.49 -0.657 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 71.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 Q61: Cystic kidney disease EFO_0008615 7.23e-112 7.23 -112 454.198 oddsRatioConfidenceIntervalLower 774.41 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 54.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 1.04e-103 1.04 -103 "" -2.306 -1.922 -2.114 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" STAB1 Total protein (30860) EFO_0004536 4.64e-14 4.64 -14 "" 0.094 0.16 0.127 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 3191.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LCORL Leg predicted mass right (23114) EFO_0004302 4.88e-13 4.88 -13 "" 0.21 0.366 0.288 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 213.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SF3B1 Red blood cell erythrocyte count (30010) EFO_0004305 1.05e-31 1.05 -31 "" -0.541 -0.386 -0.463 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 394.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACVRL1 ICD10 I78: Diseases of capillaries EFO_0004264 7.770000000000001e-21 7.77 -21 269.523 oddsRatioConfidenceIntervalLower 869.779 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 10.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SIGIRR Lymphocyte count (30120) EFO_0004587 2.29e-13 2.29 -13 "" -0.229 -0.132 -0.181 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 1447.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PRSS56 3mm weak meridian left (5096) EFO_0004731 7.74e-12 7.74 -12 "" 0.321 0.578 0.449 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 187.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PRSS56 6mm weak meridian right (5098) EFO_0004731 6.11e-12 6.11 -12 "" 0.347 0.624 0.485 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 162.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EGLN1 Haematocrit percentage (30030) EFO_0004348 1.76e-11 1.76 -11 "" 0.695 1.267 0.981 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 28.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" SPTA1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.72e-47 1.72 -47 "" -0.755 -0.575 -0.665 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 364.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NPR3 Standing height (50) EFO_0004339 1.13e-15 1.13 -15 "" 0.145 0.239 0.192 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 587.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GP1BB Platelet distribution width (30110) EFO_0007984 2.5300000000000003e-21 2.53 -21 "" 0.933 1.42 1.177 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 52.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IRS1 Sitting height (20015) EFO_0011011 7.94e-16 7.94 -16 "" -0.553 -0.337 -0.445 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 145.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ASGR1 Apolipoprotein B (30640) EFO_0004615 6.53e-18 6.53 -18 "" -0.351 -0.221 -0.286 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 759.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I50.9: Heart failure, unspecified EFO_0003144 1.25e-11 1.25 -11 2.445 oddsRatioConfidenceIntervalLower 3.168 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080022 387930 2407 78.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Forced expiratory volume in 1 second FEV1 (3063) EFO_0004314 4.71e-12 4.71 -12 "" 0.065 0.116 0.091 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079017 395451 395451 2825.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TFRC Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.0199999999999995e-25 6.02 -25 "" 0.827 1.215 1.021 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 87.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Trunk predicted mass (23130) EFO_0004324 9.66e-25 9.66 -25 "" -0.135 -0.092 -0.113 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 2640.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LCORL Arm predicted mass left (23126) EFO_0004302 2.9e-12 2.9 -12 "" 0.197 0.351 0.274 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 213.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANK1 Mean sphered cell volume (30270) EFO_0004526 4.51e-20 4.51 -20 "" -0.133 -0.086 -0.11 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 5886.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A1 Total bilirubin (30840) EFO_0004570 4.5900000000000003e-66 4.59 -66 "" 0.407 0.512 0.46 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1198.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Leg predicted mass right (23114) EFO_0004302 1.4e-16 1.4 -16 "" -0.747 -0.461 -0.604 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 63.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TET2 ICD10 D69.6: Thrombocytopenia, unspecified HP_0001873 2.34e-12 2.34 -12 4.113 oddsRatioConfidenceIntervalLower 6.106 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079714 387579 1788 38.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" WNT1 Heel bone mineral density BMD T score automated left (4106) EFO_0009270 4.6e-13 4.6 -13 "" -0.629 -0.361 -0.495 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079153 166283 166283 167.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 ICD10 D70: Neutropenia MONDO_0001475 4.42e-19 4.42 -19 3.546 oddsRatioConfidenceIntervalLower 4.683 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079716 387075 4407 75.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CYP2R1 Vitamin D (30890) EFO_0004631 5.6e-15 5.6 -15 "" -0.61 -0.365 -0.488 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 234.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 1.23e-20 1.23 -20 2.773 oddsRatioConfidenceIntervalLower 3.436 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 118.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 2.3e-23 2.3 -23 "" -2.562 -1.72 -2.141 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 21.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GP1BB Mean platelet thrombocyte volume (30100) EFO_0004584 1.2599999999999999e-30 1.26 -30 "" 1.601 2.259 1.93 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 25.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Whole body water mass (23102) EFO_0009805 3.39e-26 3.39 -26 "" 0.159 0.232 0.195 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SRSF2 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.32e-15 1.32 -15 "" 0.413 0.681 0.547 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 182.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK T2D (RGC) MONDO_0005148 1.57e-41 1.57 -41 5.751 oddsRatioConfidenceIntervalLower 7.414 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 121.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 ICD10 N28: Other disorders of kidney and ureter, not elsewhere classified EFO_0009690 1.48e-12 1.48 -12 8.7 oddsRatioConfidenceIntervalLower 15.839 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080595 387002 3413 20.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK T2D (RGC) MONDO_0005148 5.92e-50 5.92 -50 8.047 oddsRatioConfidenceIntervalLower 10.595 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 114.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC1R Ease of skin tanning - Get mildly or occasionally tanned (1727) EFO_0007009 5.98e-25 5.98 -25 1.373 oddsRatioConfidenceIntervalLower 1.458 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077604 422570 93163 1599.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A9 Total bilirubin (30840) EFO_0004570 3.43e-66 3.43 -66 "" 0.38 0.478 0.429 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1375.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCAT Apolipoprotein A (30630) EFO_0004732 3.1499999999999995e-23 3.15 -23 "" -1.348 -0.904 -1.126 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 57.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MIP ICD10 H26: Other cataract MONDO_0005129 4.05e-18 4.05 -18 13.424 oddsRatioConfidenceIntervalLower 24.134 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079893 384442 20291 27.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 DD Cancer - Yes (2453) EFO_0000311 9.95e-19 9.95 -19 2.149 oddsRatioConfidenceIntervalLower 2.546 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 195.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TSHR ICD10 E03: Other hypothyroidism EFO_0004705 8.37e-25 8.37 -25 2.45 oddsRatioConfidenceIntervalLower 2.906 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079722 383065 21010 198.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" WNT1 Heel bone mineral density BMD left (4105) EFO_0009270 2.15e-13 2.15 -13 "" -0.635 -0.367 -0.501 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079152 166186 166186 167.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CALR ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 2.97e-28 2.97 -28 18.016 oddsRatioConfidenceIntervalLower 30.125 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 32.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Arm fat mass right (23120) EFO_0005409 4.41e-15 4.41 -15 "" 0.382 0.637 0.51 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078923 423576 423576 197.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GIGYF1 Glucose (30740) EFO_0004468 1.39e-14 1.39 -14 "" 0.46 0.775 0.618 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 144.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 2.94e-13 2.94 -13 "" -2.664 -1.536 -2.1 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 14.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 6.95e-21 6.95 -21 2.042 oddsRatioConfidenceIntervalLower 2.37 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 235.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Non cancer illness code self reported - high cholesterol HP_0003124 4.27e-23 4.27 -23 8.631 oddsRatioConfidenceIntervalLower 13.226 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 60.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SERPINH1 Standing height (50) EFO_0004339 7.94e-18 7.94 -18 "" -0.723 -0.455 -0.589 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 71.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TMCC2 Mean platelet thrombocyte volume (30100) EFO_0004584 9.55e-13 9.55 -13 "" -0.236 -0.134 -0.185 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1090.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BTG2 Mean sphered cell volume (30270) EFO_0004526 1.8e-11 1.8 -11 "" 0.223 0.406 0.315 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 383.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Arm fat mass right (23120) EFO_0005409 4.41e-15 4.41 -15 "" 0.382 0.637 0.51 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078923 423576 423576 197.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OCA2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 2.95e-23 2.95 -23 3.777 oddsRatioConfidenceIntervalLower 4.91 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 122.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NPR2 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 3.2200000000000003e-21 3.22 -21 "" -0.213 -0.14 -0.176 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 410.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SH2B3 Direct bilirubin (30660) EFO_0004570 1.72e-11 1.72 -11 "" 0.07 0.128 0.099 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 3135.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS17 Forced expiratory volume in 1 second FEV1 Best measure (20150) EFO_0004314 4.6e-12 4.6 -12 "" -0.11 -0.061 -0.086 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078316 322002 322002 3138.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" KLHDC7B hearing loss (RGC) EFO_0004238 8.729999999999999e-28 8.73 -28 2.156 oddsRatioConfidenceIntervalLower 2.474 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 451.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.2e-13 1.2 -13 1.327 oddsRatioConfidenceIntervalLower 1.43 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 860.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SCUBE3 Trunk fat free mass (23129) EFO_0004995 1.86e-11 1.86 -11 "" -0.216 -0.118 -0.167 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 518.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MYBPC3 ICD10 I42: Cardiomyopathy EFO_0000318 4.51e-25 4.51 -25 31.625 oddsRatioConfidenceIntervalLower 60.852 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 22.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC12A9 Hair colour natural before greying - Blonde (1747) EFO_0007822 8.92e-41 8.92 -41 2.261 oddsRatioConfidenceIntervalLower 2.548 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 454.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Leg predicted mass left (23118) EFO_0004302 1.62e-13 1.62 -13 "" -0.107 -0.062 -0.084 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 2642.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ATR Mean corpuscular volume (30040) EFO_0004526 3.06e-14 3.06 -14 "" -0.311 -0.184 -0.247 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 737.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OBSCN Impedance of arm right (23109) HP_0000924 1.44e-12 1.44 -12 "" -0.081 -0.046 -0.063 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 5453.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS3 Impedance of leg right (23107) HP_0000924 4.52e-17 4.52 -17 "" -0.228 -0.142 -0.185 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 1455.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LCORL Leg fat free mass left (23117) EFO_0004995 1.22e-13 1.22 -13 "" 0.2 0.344 0.272 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 257.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NF1 ICD10 D36.1: Benign neoplasm of peripheral nerves and autonomic nervous system EFO_0002422 8.329999999999999e-34 8.33 -34 14.083 oddsRatioConfidenceIntervalLower 21.6 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079694 387929 616 43.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLCO1B3 Direct bilirubin (30660) EFO_0004570 5.82e-90 5.82 -90 "" 0.287 0.349 0.318 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 2698.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SCUBE3 Arm predicted mass left (23126) EFO_0004302 2.72e-14 2.72 -14 "" -0.158 -0.093 -0.125 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 1216.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CRLF3 Platelet distribution width (30110) EFO_0007984 3.83e-12 3.83 -12 "" -0.261 -0.146 -0.203 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 939.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TUBB1 Platelet distribution width (30110) EFO_0007984 2.2300000000000002e-307 2.23 -307 "" 1.772 1.953 1.862 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 382.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" WNT1 Heel quantitative ultrasound index QUI direct entry right (4123) EFO_0004514 1.65e-12 1.65 -12 "" -0.613 -0.347 -0.48 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079157 166358 166358 167.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" DCT Skin colour - Light olive (1717) EFO_0003784 5.19e-12 5.19 -12 0.679 oddsRatioConfidenceIntervalLower 0.758 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 386.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 Illnesses of mother - None of the above group 2 (20110) EFO_0000493 4.5699999999999995e-23 4.57 -23 0.562 oddsRatioConfidenceIntervalLower 0.63 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078283 423686 308506 784.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Leg fat free mass right (23113) EFO_0004995 4.2399999999999995e-52 4.24 -52 "" 0.095 0.123 0.109 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 6711.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC34A3 Cystatin C (30720) EFO_0004617 4.15e-29 4.15 -29 "" 0.248 0.353 0.3 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 940.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 1.03e-16 1.03 -16 2.969 oddsRatioConfidenceIntervalLower 3.839 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 86.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ZFAT Forced vital capacity FVC (3062) EFO_0004312 4.96e-19 4.96 -19 "" 0.059 0.092 0.076 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 6256.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKLR Haematocrit percentage (30030) EFO_0004348 1.0600000000000001e-21 1.06 -21 "" -0.119 -0.078 -0.098 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 5721.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SRSF2 High light scatter reticulocyte percentage (30290) EFO_0010700 2.59e-39 2.59 -39 "" 0.789 1.067 0.928 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 175.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A4 Direct bilirubin (30660) EFO_0004570 1.47e-41 1.47 -41 "" 0.371 0.497 0.434 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 806.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Eosinophil percentage (30210) EFO_0007991 1.61e-50 1.61 -50 "" -0.375 -0.288 -0.332 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 1777.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TERT Mean reticulocyte volume (30260) EFO_0010701 9.89e-15 9.89 -15 "" 0.336 0.563 0.45 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 247.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CALR Red blood cell erythrocyte count (30010) EFO_0004305 8.28e-24 8.28 -24 "" -1.117 -0.753 -0.935 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 71.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Arm predicted mass right (23122) EFO_0004302 2.33e-28 2.33 -28 "" -0.142 -0.099 -0.121 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 2642.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GIGYF1 Hand grip strength left (46) EFO_0006941 3.14e-13 3.14 -13 "" -0.493 -0.284 -0.388 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 158.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LRP2 Cystatin C (30720) EFO_0004617 2.24e-17 2.24 -17 "" -0.524 -0.327 -0.426 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 269.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 Illnesses of mother - Breast cancer (20110) EFO_0009640 1.25e-11 1.25 -11 3.043 oddsRatioConfidenceIntervalLower 4.198 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 59.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SPTB ICD10 D73: Diseases of spleen EFO_0009002 1.15e-17 1.15 -17 176.493 oddsRatioConfidenceIntervalLower 577.118 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079718 387896 692 9.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" ZFAT Sitting height (20015) EFO_0011011 2.8e-12 2.8 -12 "" 0.54 0.961 0.751 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 38.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" HBB Total bilirubin (30840) EFO_0004570 1.69e-13 1.69 -13 "" 0.416 0.718 0.567 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 105.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PFKM Glycated haemoglobin HbA1c (30750) EFO_0004541 9.66e-21 9.66 -21 "" -0.556 -0.363 -0.459 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 317.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPSB3 Standing height (50) EFO_0004339 1.98e-16 1.98 -16 "" -0.072 -0.045 -0.058 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 6610.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PCSK9 Cholesterol (30690) EFO_0004574 7.52e-80 7.52 -80 "" -0.722 -0.587 -0.654 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 709.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LRP2 Urate (30880) EFO_0004531 3.22e-13 3.22 -13 "" 0.254 0.441 0.347 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 270.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ACAN Comparative height size at age 10 - Shorter (1697) EFO_0004339 4.05e-15 4.05 -15 13.459 oddsRatioConfidenceIntervalLower 25.75 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 32.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" SLC34A3 Phosphate (30810) EFO_0010968 1.31e-25 1.31 -25 "" -0.399 -0.273 -0.336 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 850.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOC3 Mean reticulocyte volume (30260) EFO_0010701 2.53e-12 2.53 -12 "" 0.099 0.176 0.137 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 2185.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LPL HDL cholesterol (30760) EFO_0004612 1.12e-17 1.12 -17 "" -0.59 -0.37 -0.48 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 216.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 Illnesses of siblings - Breast cancer (20111) EFO_0009640 9.7e-23 9.7 -23 3.939 oddsRatioConfidenceIntervalLower 5.179 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 84.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Systolic blood pressure automated reading (4080) EFO_0006335 3.53e-13 3.53 -13 "" -0.127 -0.073 -0.1 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079146 408211 408211 4262.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SF3B1 Mean corpuscular haemoglobin (30050) EFO_0004527 4.3e-20 4.3 -20 "" 0.321 0.495 0.408 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 394.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC45A2 Hair colour natural before greying - Blonde (1747) EFO_0007822 3.93e-158 3.93 -158 3.568 oddsRatioConfidenceIntervalLower 3.916 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 866.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KLF1 Mean corpuscular volume (30040) EFO_0004526 5.799999999999999e-75 5.8 -75 "" -0.961 -0.775 -0.868 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 348.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" JAK2 High light scatter reticulocyte percentage (30290) EFO_0010700 1.17e-16 1.17 -16 "" 0.128 0.207 0.167 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 2136.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ATP11C Glycated haemoglobin HbA1c (30750) EFO_0004541 1.68e-12 1.68 -12 "" -0.264 -0.149 -0.207 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 597.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" COL6A1 Corneal resistance factor right (5257) EFO_0010067 3.24e-30 3.24 -30 "" -1.453 -1.028 -1.24 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079336 105888 105888 75.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" G6PC Arm fat free mass right (23121) EFO_0004995 1.14e-11 1.14 -11 "" -0.128 -0.07 -0.099 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 1484.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBA2 Mean corpuscular volume (30040) EFO_0004526 6.15e-13 6.15 -13 "" -0.775 -0.443 -0.609 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 110.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MPO Basophil percentage (30220) EFO_0007992 3.1e-23 3.1 -23 "" 0.071 0.105 0.088 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078999 418454 418454 12702.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" INSC Heel broadband ultrasound attenuation left (4101) EFO_0004514 5.47e-12 5.47 -12 "" 0.061 0.11 0.086 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079149 166276 166276 5117.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CA1 Mean reticulocyte volume (30260) EFO_0010701 1.18e-12 1.18 -12 "" -0.345 -0.196 -0.27 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 582.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CLDN10 Cystatin C (30720) EFO_0004617 1.08e-32 1.08 -32 "" 0.338 0.471 0.404 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 581.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Impedance of leg left (23108) HP_0000924 1.57e-16 1.57 -16 "" 0.104 0.169 0.136 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 2646.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MSH2 ICD10 Z80.0: Family history of malignant neoplasm of digestive organs EFO_0009640 1.07e-24 1.07 -24 16.287 oddsRatioConfidenceIntervalLower 27.755 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081329 385471 9455 31.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ATP11C Direct bilirubin (30660) EFO_0004570 5.09e-20 5.09 -20 "" 0.616 0.951 0.783 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 60.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Waist circumference (48) EFO_0004342 3.9599999999999997e-23 3.96 -23 "" 0.19 0.284 0.237 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079228 430261 430261 1225.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R Whole body water mass (23102) EFO_0009805 1.03e-20 1.03 -20 "" -0.469 -0.306 -0.387 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 185.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" IQGAP2 Platelet count (30080) EFO_0004309 5.6300000000000005e-21 5.63 -21 "" -0.373 -0.244 -0.308 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 708.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" AGER FEV1 FVC ratio Z score (20258) EFO_0004713 2.37e-13 2.37 -13 "" -0.237 -0.137 -0.187 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 1395.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" COL4A3 Microalbumin in urine (30500) EFO_0010967 1.77e-16 1.77 -16 "" 0.168 0.273 0.221 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 1353.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PALB2 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 1.01e-12 1.01 -12 3.011 oddsRatioConfidenceIntervalLower 4.077 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 62.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CXCR4 Neutrophil count (30140) EFO_0004833 1.23e-15 1.23 -15 "" 0.388 0.639 0.514 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 215.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PKD1 ICD10 Z99.2: Dependence on renal dialysis EFO_0010690 2.4699999999999997e-40 2.47 -40 39.256 oddsRatioConfidenceIntervalLower 67.433 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081442 385553 1868 34.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GIGYF1 Glucose (30740) EFO_0004468 1.39e-14 1.39 -14 "" 0.46 0.775 0.618 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 144.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LCORL Arm fat free mass right (23121) EFO_0004995 1.67e-13 1.67 -13 "" 0.189 0.327 0.258 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 257.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TFRC Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.8e-11 1.8 -11 "" 0.831 1.515 1.173 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 28.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" IFRD2 Reticulocyte count (30250) EFO_0007986 4.15e-74 4.15 -74 "" 0.304 0.377 0.341 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 2475.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 5.88e-12 5.88 -12 "" -2.301 -1.281 -1.791 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OCA2 Skin colour - Dark olive (1717) EFO_0003784 2.0099999999999997e-23 2.01 -23 0.357 oddsRatioConfidenceIntervalLower 0.437 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077600 425361 7210 64.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - atorvastatin EFO_0007010 6.05e-46 6.05 -46 3.764 oddsRatioConfidenceIntervalLower 4.518 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078178 320758 16654 194.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR Non cancer illness code self reported - angina/ICD10 I20 EFO_0003913 1.28e-15 1.28 -15 2.327 oddsRatioConfidenceIntervalLower 2.862 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077656 329052 13585 129.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 ICD10 D36: Benign neoplasm of other and unspecified sites EFO_0002422 2.88e-31 2.88 -31 30.241 oddsRatioConfidenceIntervalLower 53.716 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079695 387660 899 28.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" UGT1A1 Direct bilirubin (30660) EFO_0004570 2.96e-19 2.96 -19 "" 0.468 0.729 0.598 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 187.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SCUBE3 Trunk fat free mass (23129) EFO_0004995 3.96e-15 3.96 -15 "" -0.123 -0.074 -0.098 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 2062.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGFALS Arm fat free mass left (23125) EFO_0004995 1.82e-12 1.82 -12 "" -0.117 -0.066 -0.092 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 1957.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK Non cancer illness code self reported - diabetes EFO_0000400 2.5e-17 2.5 -17 7.661 oddsRatioConfidenceIntervalLower 12.273 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077722 331754 17927 36.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGF1R Arm fat free mass left (23125) EFO_0004995 7.08e-16 7.08 -16 "" -0.424 -0.258 -0.341 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 185.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" TMPRSS6 Haemoglobin concentration (30020) EFO_0004509 5.4e-23 5.4 -23 "" -0.466 -0.312 -0.389 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 361.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TCF25 Hair colour natural before greying - Red (1747) EFO_0007822 2.3199999999999997e-30 2.32 -30 0.313 oddsRatioConfidenceIntervalLower 0.382 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 65.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ALPL Phosphate (30810) EFO_0010968 3.4e-24 3.4 -24 "" 0.783 1.158 0.97 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 96.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" NF1 ICD10 D36.1: Benign neoplasm of peripheral nerves and autonomic nervous system EFO_0002422 2.06e-32 2.06 -32 40.463 oddsRatioConfidenceIntervalLower 74.609 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079694 387929 616 26.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" HGS Forced vital capacity FVC Z score (20257) EFO_0004312 2.55e-14 2.55 -14 "" 0.133 0.225 0.179 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078389 343302 343302 1655.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Arm predicted mass right (23122) EFO_0004302 1.83e-24 1.83 -24 "" 0.116 0.171 0.143 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 1594.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 Type of Cancer: Malignant neoplasm of breast (40006) EFO_0003869 7.49e-12 7.49 -12 3.422 oddsRatioConfidenceIntervalLower 4.866 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079108 41005 12472 79.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SF3B1 Type of Cancer: Chronic lymphocytic leukemia of B-cell type (40006) EFO_0000095 7.96e-14 7.96 -14 18.087 oddsRatioConfidenceIntervalLower 38.657 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079124 74230 571 15.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCA1 HDL cholesterol (30760) EFO_0004612 4.6499999999999993e-104 4.65 -104 "" -0.764 -0.637 -0.701 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 644.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKLR High light scatter reticulocyte percentage (30290) EFO_0010700 9.3e-12 9.3 -12 "" 0.119 0.215 0.167 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1471.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK Glycated haemoglobin HbA1c (30750) EFO_0004541 3.49e-112 3.49 -112 "" 0.969 1.154 1.061 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 345.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OR51V1 Mean corpuscular volume (30040) EFO_0004526 1.43e-22 1.43 -22 "" -1.417 -0.944 -1.181 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 75.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APC ICD10 K91.4: Colostomy and enterostomy malfunction (K91.4) EFO_0000405 2.5e-14 2.5 -14 63.128 oddsRatioConfidenceIntervalLower 183.296 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080316 387930 635 9.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Arm fat mass right (23120) EFO_0005409 1.42e-26 1.42 -26 "" 0.23 0.333 0.281 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078923 423576 423576 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 2.63e-22 2.63 -22 3.052 oddsRatioConfidenceIntervalLower 3.823 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 125.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean corpuscular volume (30040) EFO_0004526 6.05e-108 6.05 -108 "" -2.412 -2.018 -2.215 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" KDM5B IGF 1 (30770) EFO_0004627 8.81e-12 8.81 -12 "" -0.512 -0.284 -0.398 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 236.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Ankle spacing width (3143) EFO_0004324 7.56e-14 7.56 -14 "" 0.169 0.289 0.229 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 677.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 Direct bilirubin (30660) EFO_0004570 2.8e-27 2.8 -27 "" 1.569 2.263 1.916 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 21.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" NPR3 Comparative height size at age 10 - Taller (1697) EFO_0004339 1.48e-12 1.48 -12 1.921 oddsRatioConfidenceIntervalLower 2.301 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 226.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ATM DD Cancer - Yes (2453) EFO_0000311 3.96e-15 3.96 -15 1.97 oddsRatioConfidenceIntervalLower 2.333 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 191.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ENG ICD10 I78: Diseases of capillaries EFO_0004264 2.57e-18 2.57 -18 407.834 oddsRatioConfidenceIntervalLower 1572.64 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 8.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" SF3B1 Mean sphered cell volume (30270) EFO_0004526 1.44e-12 1.44 -12 "" 0.236 0.416 0.326 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 390.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK Non cancer illness code self reported - diabetes/ICD10 E14 EFO_0000400 1.7e-15 1.7 -15 4.718 oddsRatioConfidenceIntervalLower 6.912 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077723 329052 16961 47.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CAD Mean reticulocyte volume (30260) EFO_0010701 8.36e-62 8.36 -62 "" 0.929 1.178 1.054 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 208.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 ICD10 C92: Myeloid leukemia EFO_0002427 5.68e-20 5.68 -20 14.599 oddsRatioConfidenceIntervalLower 25.924 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 24.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 Type of Cancer: Malignant neoplasm of ovary (40006) EFO_0003893 9.7e-12 9.7 -12 5.02 oddsRatioConfidenceIntervalLower 7.985 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079111 41005 1106 31.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PIEZO1 Standing height (50) EFO_0004339 1.61e-16 1.61 -16 "" -0.151 -0.093 -0.122 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1518.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHTF18 Mean corpuscular volume (30040) EFO_0004526 8.24e-16 8.24 -16 "" 0.206 0.338 0.272 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 682.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Non cancer illness code self reported - atrial fibrillation EFO_0000275 4.16e-19 4.16 -19 2.799 oddsRatioConfidenceIntervalLower 3.508 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077881 331754 3921 108.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ARHGAP25 Monocyte percentage (30190) EFO_0007989 4.14e-16 4.14 -16 "" 0.069 0.112 0.09 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 6671.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANKRD12 Total protein (30860) EFO_0004536 2.54e-12 2.54 -12 "" -0.683 -0.384 -0.534 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 153.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LDLR ICD10 I25: Chronic ischemic heart disease EFO_0003777 1.13e-14 1.13 -14 7.33 oddsRatioConfidenceIntervalLower 12.151 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079982 387110 32706 33.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANTXR1 Impedance of arm left (23110) HP_0000924 2.01e-17 2.01 -17 "" -0.182 -0.114 -0.148 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 1439.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR Cholesterol lowering medication (6177) EFO_0007010 7.8e-20 7.8 -20 3.421 oddsRatioConfidenceIntervalLower 4.457 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079486 69473 49091 374.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 DD Cancer - Yes (2453) EFO_0000311 9.45e-18 9.45 -18 2.014 oddsRatioConfidenceIntervalLower 2.363 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 215.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTSL4 Standing height (50) EFO_0004339 6.46e-16 6.46 -16 "" -0.121 -0.074 -0.098 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2329.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PRPH2 Eye problems disorders - Macular degeneration (6148) EFO_0009606 7.78e-13 7.78 -13 43.337 oddsRatioConfidenceIntervalLower 121.513 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079434 37798 4185 15.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LY75-CD302 Platelet count (30080) EFO_0004309 3.82e-15 3.82 -15 "" 0.086 0.144 0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 3689.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GP1BA Mean platelet thrombocyte volume (30100) EFO_0004584 3.05e-50 3.05 -50 "" 1.148 1.495 1.322 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 91.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CCNF Mean sphered cell volume (30270) EFO_0004526 9.74e-13 9.74 -13 "" 0.16 0.282 0.221 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 859.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Impedance of arm right (23109) HP_0000924 6.4500000000000004e-27 6.45 -27 "" 0.076 0.11 0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 5848.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" COL4A4 Microalbumin in urine (30500) EFO_0010967 6.91e-12 6.91 -12 "" 0.415 0.747 0.581 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 134.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD1 ICD10 Z99.2: Dependence on renal dialysis EFO_0010690 1.18e-14 1.18 -14 3.152 oddsRatioConfidenceIntervalLower 4.22 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081442 385553 1868 65.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CST3 Cystatin C (30720) EFO_0004617 2.2300000000000002e-307 2.23 -307 "" -2.938 -2.747 -2.842 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 304.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 Non cancer illness code self reported - other neurological problem EFO_0000618 2.41e-42 2.41 -42 47.801 oddsRatioConfidenceIntervalLower 83.333 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077842 331754 1794 34.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Leg fat mass left (23116) EFO_0005409 2.34e-13 2.34 -13 "" 0.282 0.487 0.385 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078919 423640 423640 197.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC9A3R1 White blood cell leukocyte count (30000) EFO_0004308 3.84e-15 3.84 -15 "" 0.063 0.104 0.083 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 7966.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 6mm strong meridian left (5134) EFO_0004731 3.64e-18 3.64 -18 "" 0.321 0.508 0.415 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079300 89735 89735 349.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK DD DM - Yes (2443) EFO_0000400 5.02e-32 5.02 -32 10.576 oddsRatioConfidenceIntervalLower 15.659 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078949 429739 22058 57.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGFALS IGF 1 (30770) EFO_0004627 1.37e-37 1.37 -37 "" -0.739 -0.543 -0.641 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 320.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 9.81e-18 9.81 -18 8.09 oddsRatioConfidenceIntervalLower 13.046 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 31.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FLG ChildhoodAsthmaCases vs AllergicDiseaseControls (RGC) MONDO_0005405 7.93e-28 7.93 -28 1.563 oddsRatioConfidenceIntervalLower 1.694 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081473 297425 16952 787.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGF1R Trunk fat free mass (23129) EFO_0004995 2.33e-21 2.33 -21 "" -0.205 -0.135 -0.17 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 995.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ITGA2B Platelet count (30080) EFO_0004309 3.51e-18 3.51 -18 "" -0.469 -0.296 -0.382 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 393.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GP1BB Mean platelet thrombocyte volume (30100) EFO_0004584 1.67e-58 1.67 -58 "" 1.648 2.104 1.876 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 52.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" AMPD3 Haemoglobin concentration (30020) EFO_0004509 1.38e-16 1.38 -16 "" -0.07 -0.043 -0.057 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 11976.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Reticulocyte count (30250) EFO_0007986 5.870000000000001e-26 5.87 -26 "" 0.814 1.186 1.0 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 96.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SPHK1 Reticulocyte count (30250) EFO_0007986 4.36e-25 4.36 -25 "" -0.148 -0.101 -0.125 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 5990.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANK1 Mean sphered cell volume (30270) EFO_0004526 3.1e-32 3.1 -32 "" -1.938 -1.387 -1.663 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 42.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" RP11-545J16.1 Total bilirubin (30840) EFO_0004570 2.14e-20 2.14 -20 "" 0.134 0.206 0.17 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1895.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TRIM10 Mean reticulocyte volume (30260) EFO_0010701 1.27e-12 1.27 -12 "" 0.229 0.404 0.316 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 429.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Leg predicted mass right (23114) EFO_0004302 3e-15 3.0 -15 "" 0.245 0.407 0.326 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 197.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PAPPA2 Trunk predicted mass (23130) EFO_0004324 2.5e-13 2.5 -13 "" -0.31 -0.179 -0.245 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 285.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF1R Impedance of leg right (23107) HP_0000924 8.7e-12 8.7 -12 "" 0.129 0.234 0.181 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 996.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC12A9 Hair colour natural before greying - Dark brown (1747) EFO_0007822 6.779999999999999e-23 6.78 -23 0.612 oddsRatioConfidenceIntervalLower 0.675 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 641.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SH2B3 Total bilirubin (30840) EFO_0004570 1.65e-12 1.65 -12 "" 0.068 0.12 0.094 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 3592.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 Ankle spacing width (3143) EFO_0004324 1.11e-28 1.11 -28 "" 0.333 0.475 0.404 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 481.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC30A8 Glycated haemoglobin HbA1c (30750) EFO_0004541 4.97e-20 4.97 -20 "" -0.275 -0.178 -0.227 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 1256.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Waist circumference (48) EFO_0004342 3.9599999999999997e-23 3.96 -23 "" 0.19 0.284 0.237 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079228 430261 430261 1225.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NOTCH1 ICD10 C91: Lymphoid leukemia EFO_0004289 1.4900000000000001e-33 1.49 -33 258.404 oddsRatioConfidenceIntervalLower 636.738 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 18.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SF3B1 ICD10 C91: Lymphoid leukemia EFO_0004289 2.22e-18 2.22 -18 17.97 oddsRatioConfidenceIntervalLower 34.333 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 20.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PYGM Urate (30880) EFO_0004531 1.54e-16 1.54 -16 "" 0.08 0.13 0.105 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 3788.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 Illnesses of mother - None of the above group 2 (20110) EFO_0000493 2.89e-14 2.89 -14 0.631 oddsRatioConfidenceIntervalLower 0.71 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078283 423686 308506 777.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GHRH IGF 1 (30770) EFO_0004627 6.51e-14 6.51 -14 "" -0.827 -0.484 -0.656 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 104.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Trunk predicted mass (23130) EFO_0004324 6.229999999999999e-42 6.23 -42 "" 0.119 0.16 0.14 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 3010.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RHAG Reticulocyte percentage (30240) EFO_0010700 4.08e-15 4.08 -15 "" 0.329 0.548 0.438 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 285.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IFRD2 High light scatter reticulocyte percentage (30290) EFO_0010700 5.04e-39 5.04 -39 "" 0.304 0.411 0.358 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1171.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SCUBE3 Standing height (50) EFO_0004339 3.01e-19 3.01 -19 "" -0.621 -0.398 -0.509 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 105.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GCK ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 8.35e-17 8.35 -17 18.071 oddsRatioConfidenceIntervalLower 35.716 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 24.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SMAD6 3mm strong meridian right (5132) EFO_0004731 8.790000000000001e-21 8.79 -21 "" 0.431 0.66 0.546 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079298 103540 103540 237.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MLH1 ICD10 Z08.0: Follow-up examination after surgery for malignant neoplasm (Z08.0) EFO_0004542 1.22e-15 1.22 -15 14.583 oddsRatioConfidenceIntervalLower 28.114 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081197 387930 4711 19.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 Smoking status - Current (20116) EFO_0006527 2.5e-15 2.5 -15 1.467 oddsRatioConfidenceIntervalLower 1.614 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078302 429255 45239 566.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Hand grip strength right (47) EFO_0006941 1.1e-16 1.1 -16 "" -0.103 -0.064 -0.083 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 4480.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF1R Leg fat free mass left (23117) EFO_0004995 6.11e-14 6.11 -14 "" -0.66 -0.387 -0.523 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 71.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC27A3 Standing height (50) EFO_0004339 1.14e-11 1.14 -11 "" 0.039 0.07 0.054 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 5363.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PLA2G12A Mean sphered cell volume (30270) EFO_0004526 7.2e-14 7.2 -14 "" 0.056 0.096 0.076 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 8134.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHD2 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 2.9e-17 2.9 -17 68.464 oddsRatioConfidenceIntervalLower 182.462 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 11.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NR1H3 HDL cholesterol (30760) EFO_0004612 1.41e-32 1.41 -32 "" 0.192 0.268 0.23 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1805.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOA5 HDL cholesterol (30760) EFO_0004612 2.0900000000000002e-22 2.09 -22 "" -0.355 -0.236 -0.296 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 734.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANGPTL3 Triglycerides (30870) EFO_0004530 1.41e-29 1.41 -29 "" -0.588 -0.414 -0.501 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 410.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACAN Seated height (51) EFO_0011011 5.01e-22 5.01 -22 "" -1.253 -0.83 -1.042 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 44.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" LCORL Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 5.99e-15 5.99 -15 "" 0.246 0.411 0.329 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 80.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Arm predicted mass right (23122) EFO_0004302 3.75e-20 3.75 -20 "" -0.082 -0.053 -0.068 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 5844.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GAS8 Hair colour natural before greying - Blonde (1747) EFO_0007822 6.88e-12 6.88 -12 1.282 oddsRatioConfidenceIntervalLower 1.377 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 1059.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FAM21C Mean corpuscular volume (30040) EFO_0004526 5.85e-13 5.85 -13 "" 0.043 0.075 0.059 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 11901.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CXCL2 Neutrophil count (30140) EFO_0004833 1.13e-18 1.13 -18 "" -1.004 -0.639 -0.822 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 102.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PDE3B Triglycerides (30870) EFO_0004530 2.15e-60 2.15 -60 "" -0.373 -0.293 -0.333 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 2002.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EPB41 Reticulocyte percentage (30240) EFO_0010700 2.52e-20 2.52 -20 "" 0.637 0.98 0.808 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 117.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SPTB Reticulocyte percentage (30240) EFO_0010700 1.02e-15 1.02 -15 "" 0.645 1.062 0.854 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 78.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PCSK9 LDL direct (30780) EFO_0004611 3.23e-44 3.23 -44 "" -0.855 -0.644 -0.75 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8527 8527 319.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Standing height (50) EFO_0004339 2.96e-13 2.96 -13 "" -0.219 -0.126 -0.173 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 603.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BAK1 Platelet count (30080) EFO_0004309 2.37e-19 2.37 -19 "" 0.209 0.326 0.268 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 863.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CKAP2L Mean platelet thrombocyte volume (30100) EFO_0004584 1.68e-17 1.68 -17 "" -0.318 -0.199 -0.258 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 780.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OR51V1 Mean sphered cell volume (30270) EFO_0004526 1.13e-23 1.13 -23 "" -1.533 -1.032 -1.283 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9690 9690 71.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LRP2 Cystatin C (30720) EFO_0004617 3.72e-16 3.72 -16 "" -0.372 -0.228 -0.3 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 501.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PIEZO1 Glycated haemoglobin HbA1c (30750) EFO_0004541 3.17e-135 3.17 -135 "" -0.155 -0.132 -0.144 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 23939.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Arm fat free mass left (23125) EFO_0004995 2e-12 2.0 -12 "" 0.233 0.413 0.323 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 157.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 1.2e-19 1.2 -19 "" -2.36 -1.521 -1.941 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 18.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APOA5 HDL cholesterol (30760) EFO_0004612 8.160000000000001e-29 8.16 -29 "" -0.551 -0.386 -0.469 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 382.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKHD1 Gamma glutamyltransferase (30730) EFO_0004532 1.02e-17 1.02 -17 "" 0.133 0.211 0.172 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1843.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTSL4 Forced expiratory volume in 1 second FEV1 (3063) EFO_0004314 2.72e-12 2.72 -12 "" -0.135 -0.076 -0.106 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079017 395451 395451 2134.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 Mothers age at death (3526) EFO_0007796 3.18e-20 3.18 -20 "" -0.493 -0.32 -0.406 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 469.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC1R Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 4.6099999999999996e-95 4.61 -95 0.554 oddsRatioConfidenceIntervalLower 0.586 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 1621.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANKRD12 Lymphocyte count (30120) EFO_0004587 1.22e-11 1.22 -11 "" -0.462 -0.255 -0.359 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 312.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ATP11C Direct bilirubin (30660) EFO_0004570 5.09e-20 5.09 -20 "" 0.616 0.951 0.783 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 60.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MSH6 ICD10 C54: Malignant neoplasm of corpus uteri EFO_0007532 3.62e-24 3.62 -24 13.298 oddsRatioConfidenceIntervalLower 21.927 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079608 211679 1515 32.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC1R Skin colour - Very fair (1717) EFO_0003784 5.290000000000001e-231 5.29 -231 3.28 oddsRatioConfidenceIntervalLower 3.524 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 1257.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK T2D (RGC) MONDO_0005148 2.38e-19 2.38 -19 20.963 oddsRatioConfidenceIntervalLower 40.683 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 27.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CHEK2 Illnesses of mother - Breast cancer (20110) EFO_0009640 4.9e-19 4.9 -19 1.459 oddsRatioConfidenceIntervalLower 1.585 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 747.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHEK2 Platelet count (30080) EFO_0004309 3.5e-14 3.5 -14 "" 0.074 0.125 0.1 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 5041.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPHK1 High light scatter reticulocyte count (30300) EFO_0007986 1.97e-34 1.97 -34 "" -0.171 -0.124 -0.147 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 5986.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR ICD10 E78: Disorders of lipoprotein metabolism and other lipidemias Orphanet_79062 1.38e-62 1.38 -62 3.15 oddsRatioConfidenceIntervalLower 3.604 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079768 372199 51365 404.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NPC1L1 Apolipoprotein B (30640) EFO_0004615 4.52e-14 4.52 -14 "" -0.142 -0.083 -0.113 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 3764.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" JAK2 Platelet crit (30090) EFO_0007985 1.4700000000000002e-27 1.47 -27 "" 0.622 0.895 0.758 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 159.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GIGYF1 Glycated haemoglobin HbA1c (30750) EFO_0004541 2.82e-25 2.82 -25 "" 0.591 0.866 0.728 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 156.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GP1BB Platelet distribution width (30110) EFO_0007984 2.5300000000000003e-21 2.53 -21 "" 0.933 1.42 1.177 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 52.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MEN1 ICD10 E21.3: Hyperparathyroidism, unspecified EFO_0008506 4.85e-12 4.85 -12 298.59 oddsRatioConfidenceIntervalLower 1503.59 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079752 387820 512 5.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Whole body water mass (23102) EFO_0009805 4.26e-16 4.26 -16 "" 0.297 0.486 0.391 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 138.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GATA5 Forced expiratory volume in 1 second FEV1 Z score (20256) EFO_0004314 1.59e-18 1.59 -18 "" 0.086 0.135 0.111 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078388 343302 343302 5762.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC9A3R1 Neutrophil count (30140) EFO_0004833 1.99e-14 1.99 -14 "" 0.061 0.102 0.081 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 7948.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC45A2 Ease of skin tanning - Get mildly or occasionally tanned (1727) EFO_0007009 4.3899999999999995e-25 4.39 -25 1.533 oddsRatioConfidenceIntervalLower 1.663 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077604 422570 93163 938.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TFRC Mean corpuscular haemoglobin concentration (30060) EFO_0004528 4.67e-16 4.67 -16 "" -1.037 -0.634 -0.835 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 87.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" EML4 Impedance of arm right (23109) HP_0000924 1.05e-16 1.05 -16 "" -0.139 -0.086 -0.113 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 2348.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TBC1D2B Albumin (30600) EFO_0004535 1.35e-14 1.35 -14 "" -0.813 -0.483 -0.648 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 125.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Standing height (50) EFO_0004339 5.6200000000000006e-21 5.62 -21 "" 0.327 0.5 0.414 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 172.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RTEL1 Mean corpuscular haemoglobin (30050) EFO_0004527 4.31e-14 4.31 -14 "" 0.267 0.454 0.361 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 339.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GIGYF1 T2D (RGC) MONDO_0005148 4.58e-13 4.58 -13 4.769 oddsRatioConfidenceIntervalLower 7.28 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 42.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK Non cancer illness code self reported - diabetes/ICD10 E14 EFO_0000400 1.47e-13 1.47 -13 3.76 oddsRatioConfidenceIntervalLower 5.342 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077723 329052 16961 52.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 6mm strong meridian right (5133) EFO_0004731 3.03e-22 3.03 -22 "" 0.484 0.728 0.606 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079299 90887 90887 204.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TFR2 Glycated haemoglobin HbA1c (30750) EFO_0004541 2.06e-13 2.06 -13 "" -0.142 -0.082 -0.112 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 3307.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Standing height (50) EFO_0004339 5.6200000000000006e-21 5.62 -21 "" 0.327 0.5 0.414 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 172.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS10 Standing height (50) EFO_0004339 5.89e-29 5.89 -29 "" -0.306 -0.215 -0.261 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 612.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Impedance of arm left (23110) HP_0000924 1.2800000000000001e-21 1.28 -21 "" 0.066 0.1 0.083 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 5849.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A4 Total bilirubin (30840) EFO_0004570 4.0400000000000004e-35 4.04 -35 "" 0.25 0.344 0.297 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1488.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ORAI3 Basophil percentage (30220) EFO_0007992 1.08e-11 1.08 -11 "" -0.17 -0.094 -0.132 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078999 418454 418454 2571.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANGPTL8 Apolipoprotein A (30630) EFO_0004732 5.58e-13 5.58 -13 "" 0.193 0.337 0.265 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 530.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.59e-14 1.59 -14 "" 1.326 2.235 1.781 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I50: Heart failure EFO_0003144 8.42e-30 8.42 -30 2.575 oddsRatioConfidenceIntervalLower 3.032 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080023 387076 8159 206.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF1R Arm fat free mass right (23121) EFO_0004995 4.32e-16 4.32 -16 "" -0.416 -0.254 -0.335 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 185.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" TTN Trunk predicted mass (23130) EFO_0004324 3.77e-24 3.77 -24 "" -0.104 -0.07 -0.087 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 4400.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LCORL Trunk fat free mass (23129) EFO_0004995 1.56e-16 1.56 -16 "" 0.222 0.36 0.291 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 257.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR CAD Loose CC (RGC) EFO_0001645 9.35e-26 9.35 -26 2.222 oddsRatioConfidenceIntervalLower 2.579 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081465 387011 33971 273.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PAPPA2 Whole body fat free mass (23101) EFO_0004995 8.5e-12 8.5 -12 "" -0.295 -0.163 -0.229 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 285.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL4A4 ICD10 R31: Hematuria HP_0000790 5.83e-59 5.83 -59 6.075 oddsRatioConfidenceIntervalLower 7.558 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080842 383009 19710 153.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FGB Cholesterol (30690) EFO_0004574 1.92e-12 1.92 -12 "" 0.058 0.104 0.081 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 6419.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IL17RA Monocyte count (30130) EFO_0005091 1.76e-17 1.76 -17 "" -0.725 -0.454 -0.589 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 166.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPSB3 IGF 1 (30770) EFO_0004627 7.26e-12 7.26 -12 "" -0.1 -0.055 -0.077 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 6291.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LRP2 Cystatin C (30720) EFO_0004617 3.3099999999999997e-23 3.31 -23 "" -0.226 -0.152 -0.189 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 1876.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CST3 Cystatin C (30720) EFO_0004617 2.82e-118 2.82 -118 "" -2.988 -2.521 -2.755 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 51.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Arm predicted mass left (23126) EFO_0004302 2.77e-22 2.77 -22 "" 0.128 0.193 0.16 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IL33 Eosinophil count (30150) EFO_0004842 5.13e-74 5.13 -74 "" -0.264 -0.213 -0.238 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 5008.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANGPTL3 Apolipoprotein A (30630) EFO_0004732 1.8400000000000002e-21 1.84 -21 "" -0.112 -0.073 -0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 7666.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IQGAP2 Albumin (30600) EFO_0004535 1.66e-18 1.66 -18 "" -0.204 -0.13 -0.167 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 2469.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SHOX Standing height (50) EFO_0004339 3.24e-23 3.24 -23 "" -1.31 -0.878 -1.094 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 27.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" FAM21C Mean corpuscular haemoglobin (30050) EFO_0004527 2.15e-13 2.15 -13 "" 0.044 0.076 0.06 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 11901.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PROS1 VTE PE CC (RGC) EFO_0004286 2.48e-17 2.48 -17 6.359 oddsRatioConfidenceIntervalLower 9.757 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081536 376456 5226 37.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MYO9B Mean platelet thrombocyte volume (30100) EFO_0004584 1.07e-13 1.07 -13 "" 0.079 0.135 0.107 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 3457.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CUBN Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 9.79e-22 9.79 -22 "" 0.227 0.344 0.286 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 1034.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SUPT5H Red blood cell erythrocyte distribution width (30070) EFO_0009188 7.18e-15 7.18 -15 "" 0.999 1.671 1.335 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 29.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APOC3 Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.649999999999999e-54 5.65 -54 "" 0.266 0.343 0.304 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 2214.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 1.58e-15 1.58 -15 5.841 oddsRatioConfidenceIntervalLower 9.015 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 35.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 9.86e-19 9.86 -19 8.455 oddsRatioConfidenceIntervalLower 13.575 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 32.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" WNT1 Heel bone mineral density BMD T score automated right (4125) EFO_0009270 7.51e-13 7.51 -13 "" -0.626 -0.357 -0.491 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079159 166358 166358 164.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PALB2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 6.17e-15 6.17 -15 2.38 oddsRatioConfidenceIntervalLower 2.96 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 122.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APC ICD10 Z09.0: Follow-up examination after surgery for other conditions (Z09.0) EFO_0004542 1.39e-11 1.39 -11 12.039 oddsRatioConfidenceIntervalLower 24.77 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081201 387930 5895 15.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 2.23e-20 2.23 -20 4.664 oddsRatioConfidenceIntervalLower 6.463 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 58.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 1.04e-17 1.04 -17 4.636 oddsRatioConfidenceIntervalLower 6.584 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 50.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" FIBIN Sitting height (20015) EFO_0011011 1.81e-11 1.81 -11 "" -0.084 -0.046 -0.065 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 4759.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTA1 Total bilirubin (30840) EFO_0004570 2.2e-26 2.2 -26 "" 0.357 0.519 0.438 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 365.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 ICD10 Q61: Cystic kidney disease EFO_0008615 6.7e-117 6.7 -117 126.218 oddsRatioConfidenceIntervalLower 190.675 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 72.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" TTN ICD10 I50: Heart failure EFO_0003144 3.07e-34 3.07 -34 3.369 oddsRatioConfidenceIntervalLower 4.094 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080023 387076 8159 156.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ACSF3 Hair colour natural before greying - Dark brown (1747) EFO_0007822 4.5e-13 4.5 -13 0.841 oddsRatioConfidenceIntervalLower 0.881 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 3104.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RHAG Mean reticulocyte volume (30260) EFO_0010701 4.24e-30 4.24 -30 "" -0.864 -0.61 -0.737 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 204.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANK1 Mean reticulocyte volume (30260) EFO_0010701 4.49e-29 4.49 -29 "" -1.861 -1.306 -1.583 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 42.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" ANK1 Reticulocyte percentage (30240) EFO_0010700 7.61e-20 7.61 -20 "" 1.04 1.61 1.325 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 42.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" APC ICD10 Z93: Artificial opening status EFO_0002571 4.01e-22 4.01 -22 27.213 oddsRatioConfidenceIntervalLower 53.156 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081416 387863 3783 21.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RASA2 Lymphocyte percentage (30180) EFO_0007993 5.51e-14 5.51 -14 "" -0.494 -0.29 -0.392 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 318.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RP11-545J16.1 Total bilirubin (30840) EFO_0004570 6.85e-42 6.85 -42 "" 0.145 0.194 0.17 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 4104.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Weight (21002) EFO_0004338 8.54e-19 8.54 -19 "" 0.102 0.16 0.131 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 3056.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR ICD10 I25.9: Chronic ischemic heart disease, unspecified EFO_0003777 1.14e-13 1.14 -13 2.106 oddsRatioConfidenceIntervalLower 2.563 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079981 386241 17106 141.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A3 Total bilirubin (30840) EFO_0004570 2.91e-14 2.91 -14 "" 0.114 0.193 0.154 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 2103.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLTM Impedance of whole body (23106) HP_0000924 5.13e-12 5.13 -12 "" -0.627 -0.35 -0.488 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 99.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC34A3 Creatinine (30700) EFO_0004518 4.6899999999999994e-23 4.69 -23 "" 0.195 0.292 0.244 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 940.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Trunk fat mass (23128) EFO_0005409 1.58e-11 1.58 -11 "" 0.099 0.18 0.139 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078931 423433 423433 2066.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 6.48e-86 6.48 -86 "" -2.278 -1.865 -2.071 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9690 9690 99.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A10 Total bilirubin (30840) EFO_0004570 3.06e-90 3.06 -90 "" 0.383 0.465 0.424 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1935.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MLH1 ICD10 Z08.0: Follow-up examination after surgery for malignant neoplasm (Z08.0) EFO_0004542 1.22e-15 1.22 -15 14.583 oddsRatioConfidenceIntervalLower 28.114 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081197 387930 4711 19.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" DNMT3A Platelet count (30080) EFO_0004309 1.22e-11 1.22 -11 "" 0.059 0.108 0.084 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 5082.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EXOC3L4 Mean platelet thrombocyte volume (30100) EFO_0004584 2.48e-36 2.48 -36 "" -0.471 -0.344 -0.408 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 676.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CAD Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.56e-22 5.56 -22 "" 0.489 0.739 0.614 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 210.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APEH Red blood cell erythrocyte distribution width (30070) EFO_0009188 8.41e-16 8.41 -16 "" -0.296 -0.18 -0.238 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 975.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLG Asthma (RGC) MONDO_0004979 2.43e-17 2.43 -17 1.227 oddsRatioConfidenceIntervalLower 1.287 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081461 375465 61807 2344.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 Ankle spacing width (3143) EFO_0004324 9.54e-25 9.54 -25 "" 0.451 0.664 0.558 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 215.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SCARB1 HDL cholesterol (30760) EFO_0004612 3.35e-117 3.35 -117 "" 0.379 0.45 0.415 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 2078.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASXL1 Smoking status - Never (20116) EFO_0006527 2.24e-14 2.24 -14 0.494 oddsRatioConfidenceIntervalLower 0.592 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078300 429255 232790 172.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PDZK1 Urate (30880) EFO_0004531 9.809999999999999e-48 9.81 -48 "" -0.618 -0.471 -0.545 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 437.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC2A9 Urate (30880) EFO_0004531 2.61e-20 2.61 -20 "" -0.957 -0.622 -0.79 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 90.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" POLE Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.49e-29 6.49 -29 "" 0.323 0.461 0.392 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 689.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BAK1 Platelet crit (30090) EFO_0007985 4.11e-15 4.11 -15 "" 0.296 0.493 0.395 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 304.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Comparative height size at age 10 - Shorter (1697) EFO_0004339 9.26e-20 9.26 -20 0.739 oddsRatioConfidenceIntervalLower 0.789 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 1093.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ALPL Phosphate (30810) EFO_0010968 5.7e-149 5.7 -149 "" 0.539 0.626 0.582 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 1750.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - atorvastatin EFO_0007010 1.97e-18 1.97 -18 10.316 oddsRatioConfidenceIntervalLower 17.39 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078178 320758 16654 32.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANKRD12 Lymphocyte count (30120) EFO_0004587 1.22e-11 1.22 -11 "" -0.462 -0.255 -0.359 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 312.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SIX6 SphericalEquivalent l started wearing glasses contacts before 40 (RGC) EFO_0004731 1.04e-18 1.04 -18 "" -0.377 -0.24 -0.308 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081511 48821 48821 718.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TNFRSF13B Monocyte percentage (30190) EFO_0007989 1.36e-40 1.36 -40 "" -0.164 -0.122 -0.143 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 7135.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC ICD10 Z87.1: Personal history of diseases of the digestive system EFO_0000405 6.57e-15 6.57 -15 7.754 oddsRatioConfidenceIntervalLower 12.979 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081368 386566 20497 29.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANGPTL7 6mm strong meridian right (5133) EFO_0004731 7.63e-17 7.63 -17 "" 0.141 0.228 0.184 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079299 90887 90887 1648.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RNF10 High light scatter reticulocyte percentage (30290) EFO_0010700 2.34e-12 2.34 -12 "" 0.512 0.91 0.711 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 85.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IFRD2 Immature reticulocyte fraction (30280) EFO_0010700 9.53e-26 9.53 -26 "" 0.238 0.347 0.292 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 1171.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF1R Leg predicted mass left (23118) EFO_0004302 8.35e-13 8.35 -13 "" -0.138 -0.079 -0.109 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 1485.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HSPA9 Mean corpuscular volume (30040) EFO_0004526 1.11e-20 1.11 -20 "" -0.652 -0.425 -0.539 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 232.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - simvastatin EFO_0007010 2.89e-13 2.89 -13 1.642 oddsRatioConfidenceIntervalLower 1.876 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078009 320758 51781 340.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IRS1 Seated height (51) EFO_0011011 2.48e-12 2.48 -12 "" -0.534 -0.301 -0.417 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 145.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB Alkaline phosphatase (30610) EFO_0004533 3.57e-15 3.57 -15 "" -0.328 -0.197 -0.262 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 700.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PIEZO1 Glycated haemoglobin HbA1c (30750) EFO_0004541 7.0900000000000005e-31 7.09 -31 "" -0.132 -0.093 -0.112 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 8217.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IHH Standing height (50) EFO_0004339 1.27e-13 1.27 -13 "" -1.576 -0.917 -1.247 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 12.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGFALS Urate (30880) EFO_0004531 3.81e-12 3.81 -12 "" 0.106 0.189 0.148 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 1355.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" JAK2 Mean reticulocyte volume (30260) EFO_0010701 2.76e-20 2.76 -20 "" 0.143 0.221 0.182 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 2137.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TSHR Non cancer illness code self reported - hypothyroidism myxoedema/ICD10 E03 EFO_0004705 1.45e-20 1.45 -20 2.358 oddsRatioConfidenceIntervalLower 2.825 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077731 329052 18362 176.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPTB Reticulocyte count (30250) EFO_0007986 5.09e-16 5.09 -16 "" 0.841 1.377 1.109 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 46.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" BRCA1 Illnesses of mother - Breast cancer (20110) EFO_0009640 6.96e-25 6.96 -25 3.072 oddsRatioConfidenceIntervalLower 3.803 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 136.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CXCR4 White blood cell leukocyte count (30000) EFO_0004308 1.26e-19 1.26 -19 "" 0.456 0.708 0.582 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 215.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PKLR Reticulocyte percentage (30240) EFO_0010700 5.84e-22 5.84 -22 "" 0.24 0.363 0.301 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 916.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC30A8 Glycated haemoglobin HbA1c (30750) EFO_0004541 4.97e-20 4.97 -20 "" -0.275 -0.178 -0.227 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 1256.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MLH1 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 4.27e-31 4.27 -31 57.945 oddsRatioConfidenceIntervalLower 115.075 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 25.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR ICD10 I25.1: Atherosclerotic heart disease of native coronary artery EFO_0001645 4.06e-12 4.06 -12 7.302 oddsRatioConfidenceIntervalLower 12.808 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079978 387911 23129 25.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGF1R Sitting height (20015) EFO_0011011 3.42e-22 3.42 -22 "" -0.244 -0.162 -0.203 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1007.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RASA2 Lymphocyte percentage (30180) EFO_0007993 1.15e-16 1.15 -16 "" -0.306 -0.189 -0.248 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 970.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Forced vital capacity FVC (3062) EFO_0004312 1.02e-13 1.02 -13 "" -0.127 -0.074 -0.1 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 2481.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" KDM5B Hand grip strength left (46) EFO_0006941 6.42e-14 6.42 -14 "" -0.405 -0.237 -0.321 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 245.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PADI3 Hair colour natural before greying - Blonde (1747) EFO_0007822 1.04e-13 1.04 -13 1.193 oddsRatioConfidenceIntervalLower 1.25 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 2446.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RRBP1 Apolipoprotein B (30640) EFO_0004615 1.82e-24 1.82 -24 "" -0.804 -0.545 -0.674 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 191.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 2.01e-16 2.01 -16 "" -3.074 -1.891 -2.482 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8409 8409 13.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Whole body fat mass (23100) EFO_0005409 5.14e-13 5.14 -13 "" 0.34 0.594 0.467 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078904 423023 423023 197.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Basal metabolic rate (23105) EFO_0007777 9.38e-18 9.38 -18 "" -0.122 -0.077 -0.1 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 2643.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CREB3L3 Triglycerides (30870) EFO_0004530 4.4e-18 4.4 -18 "" 0.248 0.393 0.32 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 594.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ITGA2B Platelet count (30080) EFO_0004309 8.220000000000001e-21 8.22 -21 "" -0.562 -0.368 -0.465 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 308.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS17 Sitting height (20015) EFO_0011011 1.75e-16 1.75 -16 "" -0.136 -0.084 -0.11 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 2488.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A6 Total bilirubin (30840) EFO_0004570 2.12e-18 2.12 -18 "" 0.383 0.604 0.494 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 269.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CAD Mean reticulocyte volume (30260) EFO_0010701 8.510000000000001e-31 8.51 -31 "" 0.164 0.231 0.198 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 2879.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 DD Cancer - Yes (2453) EFO_0000311 4.87e-25 4.87 -25 3.091 oddsRatioConfidenceIntervalLower 3.828 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 138.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACAN Seated height (51) EFO_0011011 1.25e-27 1.25 -27 "" -1.151 -0.8 -0.975 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 64.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RHAG Mean corpuscular haemoglobin concentration (30060) EFO_0004528 1.5e-14 1.5 -14 "" 0.381 0.641 0.511 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 209.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MSH2 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 1.57e-24 1.57 -24 13.53 oddsRatioConfidenceIntervalLower 22.294 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 35.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ALPL Calcium (30680) EFO_0004838 1.25e-16 1.25 -16 "" 0.194 0.315 0.254 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 965.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Body mass index BMI (23104) EFO_0004340 2.57e-16 2.57 -16 "" 0.411 0.67 0.541 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078907 423694 423694 197.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Standing height (50) EFO_0004339 5.6200000000000006e-21 5.62 -21 "" 0.327 0.5 0.414 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 172.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Standing height (50) EFO_0004339 1.0699999999999999e-81 1.07 -81 "" -1.53 -1.245 -1.387 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 64.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ACAN Arm predicted mass right (23122) EFO_0004302 6.84e-19 6.84 -19 "" -0.564 -0.36 -0.462 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 115.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 3.12e-28 3.12 -28 "" -1.884 -1.315 -1.599 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2108 2108 45.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I42: Cardiomyopathy EFO_0000318 3.54e-56 3.54 -56 8.954 oddsRatioConfidenceIntervalLower 11.754 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 98.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Arm fat percentage right (23119) EFO_0007800 1.1e-21 1.1 -21 "" 0.156 0.237 0.196 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078922 423608 423608 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Leg fat free mass right (23113) EFO_0004995 3.18e-16 3.18 -16 "" -0.745 -0.457 -0.601 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 63.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SPTB Mean reticulocyte volume (30260) EFO_0010701 1.05e-12 1.05 -12 "" -0.241 -0.137 -0.189 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1186.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MFRP corneal power (RGC) EFO_0004731 2e-11 2.0 -11 "" 0.174 0.318 0.246 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081537 103531 103531 594.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PRPH2 Eye problems disorders - Macular degeneration (6148) EFO_0009606 2.26e-16 2.26 -16 8.781 oddsRatioConfidenceIntervalLower 14.753 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079434 37798 4185 35.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TUBB1 Platelet count (30080) EFO_0004309 8.86e-13 8.86 -13 "" -0.915 -0.521 -0.718 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 75.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" KLHDC7B Hearing difficulty problems - Yes (2247) EFO_0007616 4.21e-28 4.21 -28 1.962 oddsRatioConfidenceIntervalLower 2.212 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 511.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RTEL1 Mean sphered cell volume (30270) EFO_0004526 9.78e-21 9.78 -21 "" 0.174 0.266 0.22 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 1491.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SMAD6 Ankle spacing width (3143) EFO_0004324 1.0899999999999999e-23 1.09 -23 "" 0.219 0.326 0.273 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 862.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Whole body fat free mass (23101) EFO_0004995 2.09e-14 2.09 -14 "" 0.228 0.386 0.307 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 197.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC45A2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 3.43e-85 3.43 -85 2.33 oddsRatioConfidenceIntervalLower 2.536 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 989.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASXL1 ICD10 A41: Other sepsis HP_0100806 1.08e-11 1.08 -11 2.738 oddsRatioConfidenceIntervalLower 3.661 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079546 387463 5918 65.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RUNX1 Platelet count (30080) EFO_0004309 1.11e-13 1.11 -13 "" -1.598 -0.931 -1.265 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 26.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PIEZO1 Standing height (50) EFO_0004339 4.42e-28 4.42 -28 "" -0.247 -0.172 -0.21 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 912.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MIP Non cancer illness code self reported - cataract MONDO_0005129 1.84e-12 1.84 -12 13.901 oddsRatioConfidenceIntervalLower 28.906 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077756 331754 8629 16.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 1.04e-103 1.04 -103 "" -2.306 -1.922 -2.114 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GHRH Whole body water mass (23102) EFO_0009805 1.97e-13 1.97 -13 "" -0.439 -0.254 -0.347 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 143.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" COL1A1 Non cancer illness code self reported - bone disorder EFO_0004260 8.53e-17 8.53 -17 75.426 oddsRatioConfidenceIntervalLower 208.746 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077769 331754 988 12.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SH2B3 Reticulocyte count (30250) EFO_0007986 3.18e-27 3.18 -27 "" 0.136 0.197 0.166 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 3655.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TMPRSS6 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 1.58e-13 1.58 -13 "" -0.472 -0.274 -0.373 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 361.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLCO1B1 Total bilirubin (30840) EFO_0004570 2.09e-18 2.09 -18 "" 0.178 0.281 0.229 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 931.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IRS1 Whole body fat free mass (23101) EFO_0004995 1.0499999999999999e-23 1.05 -23 "" -0.574 -0.386 -0.48 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 140.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CAD Red blood cell erythrocyte count (30010) EFO_0004305 1.27e-12 1.27 -12 "" -0.491 -0.278 -0.384 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 210.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ALPL Alkaline phosphatase (30610) EFO_0004533 1.14e-13 1.14 -13 "" -2.392 -1.393 -1.892 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9849 9849 13.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 1.91e-11 1.91 -11 6.158 oddsRatioConfidenceIntervalLower 10.47 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 23.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Weight (23098) EFO_0004338 1.7999999999999998e-31 1.8 -31 "" 0.258 0.362 0.31 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC45A2 Ease of skin tanning - Get very tanned (1727) EFO_0007009 4.03e-66 4.03 -66 0.385 oddsRatioConfidenceIntervalLower 0.429 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 305.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 9.62e-22 9.62 -22 3.205 oddsRatioConfidenceIntervalLower 4.068 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 112.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LDLR Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 1.03e-66 1.03 -66 3.273 oddsRatioConfidenceIntervalLower 3.744 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 412.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CCR2 Monocyte percentage (30190) EFO_0007989 4.68e-19 4.68 -19 "" -0.299 -0.191 -0.245 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 1084.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LRRC75B Gamma glutamyltransferase (30730) EFO_0004532 4.16e-34 4.16 -34 "" 0.119 0.165 0.142 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 5589.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IRS1 Trunk predicted mass (23130) EFO_0004324 4.43e-25 4.43 -25 "" -0.587 -0.4 -0.494 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 140.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PARN Mean corpuscular haemoglobin (30050) EFO_0004527 8.73e-14 8.73 -14 "" 0.123 0.211 0.167 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1553.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Sitting height (20015) EFO_0011011 2.51e-16 2.51 -16 "" 0.255 0.415 0.335 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 263.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TFRC Mean corpuscular volume (30040) EFO_0004526 8.910000000000001e-21 8.91 -21 "" -0.553 -0.362 -0.457 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 326.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PDE3B Triglycerides (30870) EFO_0004530 3.12e-43 3.12 -43 "" -0.42 -0.316 -0.368 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 1159.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Seated height (51) EFO_0011011 2.64e-25 2.64 -25 "" -0.822 -0.561 -0.691 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 116.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD2 ICD10 Q61: Cystic kidney disease EFO_0008615 1.4799999999999999e-40 1.48 -40 29.727 oddsRatioConfidenceIntervalLower 48.945 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 37.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CST3 Cystatin C (30720) EFO_0004617 2.2300000000000002e-307 2.23 -307 "" -2.938 -2.747 -2.842 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 304.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 High light scatter reticulocyte count (30300) EFO_0007986 2.37e-20 2.37 -20 "" 0.161 0.248 0.205 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1754.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 ICD10 D36: Benign neoplasm of other and unspecified sites EFO_0002422 1.53e-31 1.53 -31 10.688 oddsRatioConfidenceIntervalLower 15.902 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079695 387660 899 47.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ATG4C SHBG (30830) EFO_0004696 3.22e-12 3.22 -12 "" 0.078 0.139 0.108 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 2820.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GMPR Reticulocyte percentage (30240) EFO_0010700 7.72e-40 7.72 -40 "" 0.267 0.359 0.313 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1583.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IHH Standing height (50) EFO_0004339 1.6500000000000002e-26 1.65 -26 "" -0.593 -0.408 -0.5 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 154.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ZFAT Arm predicted mass right (23122) EFO_0004302 1.31e-62 1.31 -62 "" 0.101 0.128 0.114 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 6709.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCA1 Cholesterol (30690) EFO_0004574 3.6099999999999996e-60 3.61 -60 "" -0.263 -0.207 -0.235 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 4117.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC22A12 Urate (30880) EFO_0004531 1.57e-16 1.57 -16 "" -1.28 -0.789 -1.034 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2106 2106 38.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" COL1A1 Sitting height (20015) EFO_0011011 8.93e-12 8.93 -12 "" -0.686 -0.38 -0.533 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 72.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R Arm fat free mass left (23125) EFO_0004995 7.48e-12 7.48 -12 "" -0.132 -0.073 -0.102 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 1485.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - rosuvastatin EFO_0007010 5.8e-14 5.8 -14 10.505 oddsRatioConfidenceIntervalLower 19.404 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078225 320758 2905 20.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MIP ICD10 H26: Other cataract MONDO_0005129 4.05e-18 4.05 -18 13.424 oddsRatioConfidenceIntervalLower 24.134 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079893 384442 20291 27.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD1 ICD10 N18.9: Chronic kidney disease, unspecified EFO_0003884 1.63e-38 1.63 -38 24.953 oddsRatioConfidenceIntervalLower 40.562 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080583 387930 3916 40.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PAPPA2 Arm fat free mass right (23121) EFO_0004995 8.69e-14 8.69 -14 "" -0.118 -0.069 -0.094 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 2008.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 Ankle spacing width right (4119) EFO_0004324 1.26e-13 1.26 -13 "" 0.363 0.623 0.493 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079154 166358 166358 151.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Y43: Adverse effects in the therapeutic use of primarily systemic agents (Y43) EFO_0000546 1.46e-13 1.46 -13 4.406 oddsRatioConfidenceIntervalLower 6.528 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081151 387930 3135 39.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACVRL1 ICD10 R04.0: Epistaxis EFO_0003895 1.12e-11 1.12 -11 36.284 oddsRatioConfidenceIntervalLower 102.305 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080761 385081 3559 9.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKHD1 Gamma glutamyltransferase (30730) EFO_0004532 5.69e-15 5.69 -15 "" 0.092 0.153 0.122 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 3029.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CXCL6 White blood cell leukocyte count (30000) EFO_0004308 1.99e-16 1.99 -16 "" -0.122 -0.075 -0.098 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 6220.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TNFRSF13B Interpolated Age of participant when operation took place (20011) EFO_0002571 2.36e-19 2.36 -19 "" -0.132 -0.085 -0.109 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078244 346023 346023 6087.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Body mass index BMI (23104) EFO_0004340 2.57e-16 2.57 -16 "" 0.411 0.67 0.541 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078907 423694 423694 197.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" THPO Platelet count (30080) EFO_0004309 4.56e-12 4.56 -12 "" -0.394 -0.22 -0.307 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 390.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" EXOC3L4 Mean platelet thrombocyte volume (30100) EFO_0004584 2.48e-36 2.48 -36 "" -0.471 -0.344 -0.408 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 676.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IRS1 Basal metabolic rate (23105) EFO_0007777 1.41e-20 1.41 -20 "" -0.567 -0.369 -0.468 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 140.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SMAD6 6mm strong meridian right (5133) EFO_0004731 9.67e-20 9.67 -20 "" 0.653 1.011 0.832 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079299 90887 90887 95.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC4A1 Mean reticulocyte volume (30260) EFO_0010701 2.63e-12 2.63 -12 "" -0.243 -0.136 -0.19 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1140.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOB LDL direct (30780) EFO_0004611 1.34e-215 1.34 -215 "" -1.735 -1.53 -1.632 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 320.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MSH6 Type of Cancer: Malignant neoplasm of corpus uteri (40006) EFO_0007532 2.02e-15 2.02 -15 7.99 oddsRatioConfidenceIntervalLower 13.344 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079110 41005 1612 30.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CHEK2 White blood cell leukocyte count (30000) EFO_0004308 7.1800000000000006e-37 7.18 -37 "" 0.127 0.173 0.15 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 6989.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 2.2300000000000002e-307 2.23 -307 "" -1.417 -1.285 -1.351 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 720.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EPB41 Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.47e-15 5.47 -15 "" 0.497 0.83 0.663 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 119.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TADA1 Platelet distribution width (30110) EFO_0007984 5.14e-12 5.14 -12 "" 0.243 0.435 0.339 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 339.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 ICD10 Z99: Dependence on enabling machines and devices, not elsewhere classified EFO_0002571 3.69e-21 3.69 -21 9.367 oddsRatioConfidenceIntervalLower 14.903 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081445 385473 3699 34.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" TNRC6B Hand grip strength left (46) EFO_0006941 2.85e-12 2.85 -12 "" -0.786 -0.441 -0.613 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 58.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.07e-15 5.07 -15 "" 1.412 2.356 1.884 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 21.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TSHR Non cancer illness code self reported - hypothyroidism myxoedema EFO_1001055 1.04e-18 1.04 -18 3.398 oddsRatioConfidenceIntervalLower 4.457 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 90.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SCUBE3 Leg fat free mass right (23113) EFO_0004995 4.02e-13 4.02 -13 "" -0.155 -0.089 -0.122 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 1216.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - atorvastatin EFO_0007010 6.470000000000001e-27 6.47 -27 5.593 oddsRatioConfidenceIntervalLower 7.658 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078178 320758 16654 73.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ACO1 Haematocrit percentage (30030) EFO_0004348 7.67e-26 7.67 -26 "" 0.329 0.479 0.404 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 403.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NF1 ICD10 D36.1: Benign neoplasm of peripheral nerves and autonomic nervous system EFO_0002422 2.9699999999999996e-54 2.97 -54 130.435 oddsRatioConfidenceIntervalLower 241.386 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079694 387929 616 32.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" FCGRT Total protein (30860) EFO_0004536 1.1500000000000002e-27 1.15 -27 "" -1.976 -1.373 -1.674 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 38.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" UGT1A5 Total bilirubin (30840) EFO_0004570 6.67e-27 6.67 -27 "" 0.2 0.289 0.244 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1661.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Basal metabolic rate (23105) EFO_0007777 5.830000000000001e-27 5.83 -27 "" 0.222 0.321 0.271 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 554.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ADH1C Alkaline phosphatase (30610) EFO_0004533 8.3e-13 8.3 -13 "" -0.092 -0.052 -0.072 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 7707.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 Reticulocyte percentage (30240) EFO_0010700 8.08e-14 8.08 -14 "" 0.154 0.264 0.209 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1140.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" STC2 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 4.8e-13 4.8 -13 "" 0.07 0.121 0.095 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 822.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GP1BA Platelet distribution width (30110) EFO_0007984 7.36e-44 7.36 -44 "" 0.356 0.473 0.415 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 901.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Neutrophil count (30140) EFO_0004833 1.44e-18 1.44 -18 "" -0.24 -0.152 -0.196 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 1791.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PAPPA2 IGF 1 (30770) EFO_0004627 2.37e-19 2.37 -19 "" 0.239 0.373 0.306 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 695.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PKD1 ICD10 Z99.2: Dependence on renal dialysis EFO_0010690 2.88e-37 2.88 -37 31.226 oddsRatioConfidenceIntervalLower 52.985 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081442 385553 1868 34.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PCSK9 LDL direct (30780) EFO_0004611 1.12e-35 1.12 -35 "" -1.198 -0.873 -1.036 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 126.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MEPE Heel broadband ultrasound attenuation right (4120) EFO_0004514 2.59e-18 2.59 -18 "" -0.341 -0.216 -0.278 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079155 166349 166349 748.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHEK2 Lymphocyte count (30120) EFO_0004587 9.85e-12 9.85 -12 "" 0.069 0.124 0.096 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 5035.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Arm fat free mass left (23125) EFO_0004995 7.37e-20 7.37 -20 "" -0.802 -0.518 -0.66 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 63.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ABCA1 Apolipoprotein A (30630) EFO_0004732 5.33e-69 5.33 -69 "" -0.992 -0.793 -0.892 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 278.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" PLIN1 HDL cholesterol (30760) EFO_0004612 2.07e-15 2.07 -15 "" 0.146 0.242 0.194 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1139.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Standing height (50) EFO_0004339 3.57e-29 3.57 -29 "" 0.33 0.47 0.4 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 263.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TUBB1 Mean platelet thrombocyte volume (30100) EFO_0004584 1.4e-109 1.4 -109 "" 0.323 0.385 0.354 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 2827.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TSHR Non cancer illness code self reported - hypothyroidism myxoedema/ICD10 E03 EFO_1001055 1.45e-20 1.45 -20 2.358 oddsRatioConfidenceIntervalLower 2.825 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077731 329052 18362 176.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.89e-13 3.89 -13 "" -2.532 -1.456 -1.994 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 14.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z92.6: Personal history of chemotherapy for neoplastic disease EFO_0000352 6.75e-13 6.75 -13 4.935 oddsRatioConfidenceIntervalLower 7.629 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081409 387930 4641 33.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ASXL1 Current tobacco smoking - Yes on most or all days (1239) EFO_0005671 6.07e-20 6.07 -20 2.598 oddsRatioConfidenceIntervalLower 3.189 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077584 430498 33523 140.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Forced expiratory volume in 1 second FEV1 Best measure (20150) EFO_0004314 1.96e-12 1.96 -12 "" -0.14 -0.079 -0.109 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078316 322002 322002 2001.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 4.71e-17 4.71 -17 10.524 oddsRatioConfidenceIntervalLower 18.232 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 25.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" UGT1A1 Direct bilirubin (30660) EFO_0004570 2.96e-19 2.96 -19 "" 0.468 0.729 0.598 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 187.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CAD Red blood cell erythrocyte distribution width (30070) EFO_0009188 3.98e-20 3.98 -20 "" 0.518 0.799 0.658 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 166.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC9A3R2 Red blood cell erythrocyte count (30010) EFO_0004305 2.85e-17 2.85 -17 "" -0.101 -0.063 -0.082 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 6540.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGF1R Whole body water mass (23102) EFO_0009805 9.16e-21 9.16 -21 "" -0.268 -0.175 -0.222 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 568.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LCORL Seated height (51) EFO_0011011 8.32e-13 8.32 -13 "" 0.23 0.403 0.316 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 263.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZNF229 LDL direct (30780) EFO_0004611 2.9e-28 2.9 -28 "" -0.171 -0.12 -0.145 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 5193.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SRSF2 High light scatter reticulocyte percentage (30290) EFO_0010700 6.73e-14 6.73 -14 "" 0.549 0.938 0.743 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 89.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 Mothers age at death (3526) EFO_0007796 2.98e-17 2.98 -17 "" -0.493 -0.307 -0.4 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 406.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 2.36e-12 2.36 -12 "" -1.602 -0.902 -1.252 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9830 9830 28.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SH2B3 Platelet count (30080) EFO_0004309 1.12e-14 1.12 -14 "" 0.168 0.282 0.225 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 908.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Whole body water mass (23102) EFO_0009805 1.07e-26 1.07 -26 "" 0.142 0.206 0.174 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I50.0: Congestive heart failure (I50.0) EFO_0000373 8.83e-17 8.83 -17 2.553 oddsRatioConfidenceIntervalLower 3.183 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080020 387930 3182 110.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Neutrophil count (30140) EFO_0004833 8.74e-19 8.74 -19 "" -0.242 -0.154 -0.198 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 1777.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL6A1 Corneal hysteresis right (5256) EFO_0010066 3.44e-25 3.44 -25 "" -1.349 -0.92 -1.135 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079335 105888 105888 75.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TSHR Non cancer illness code self reported - hypothyroidism myxoedema EFO_0004705 6.920000000000001e-29 6.92 -29 2.576 oddsRatioConfidenceIntervalLower 3.042 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 220.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R Leg fat free mass right (23113) EFO_0004995 3.05e-14 3.05 -14 "" -0.145 -0.086 -0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 1485.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ATM ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 2.73e-15 2.73 -15 2.715 oddsRatioConfidenceIntervalLower 3.479 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 90.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CHEK2 DD Cancer - Yes (2453) EFO_0000311 4.02e-22 4.02 -22 1.774 oddsRatioConfidenceIntervalLower 1.993 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 387.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Seated height (51) EFO_0011011 2.64e-25 2.64 -25 "" -0.822 -0.561 -0.691 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 116.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF1R Trunk predicted mass (23130) EFO_0004324 2.22e-19 2.22 -19 "" -0.453 -0.291 -0.372 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 185.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" GPLD1 Alkaline phosphatase (30610) EFO_0004533 1.09e-17 1.09 -17 "" -0.701 -0.44 -0.57 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 177.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CYP1A2 Tea intake (1488) EFO_0010091 7.59e-13 7.59 -13 "" -0.211 -0.12 -0.166 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077587 417958 417958 1692.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Leg fat free mass left (23117) EFO_0004995 1.4e-12 1.4 -12 "" 0.241 0.425 0.333 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 157.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS17 Standing height (50) EFO_0004339 7.7e-41 7.7 -41 "" -0.445 -0.332 -0.389 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 399.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Arm predicted mass left (23126) EFO_0004302 7.3e-16 7.3 -16 "" -0.076 -0.046 -0.061 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 5843.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHEK2 Mean corpuscular haemoglobin (30050) EFO_0004527 1.68e-12 1.68 -12 "" -0.121 -0.068 -0.094 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 5041.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYR Skin colour - Very fair (1717) EFO_0003784 3.14e-13 3.14 -13 2.684 oddsRatioConfidenceIntervalLower 3.5 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 85.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Mean platelet thrombocyte volume (30100) EFO_0004584 3.62e-16 3.62 -16 "" 0.124 0.202 0.163 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1779.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Impedance of arm left (23110) HP_0000924 1.2800000000000001e-21 1.28 -21 "" 0.066 0.1 0.083 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 5849.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RRBP1 LDL direct (30780) EFO_0004611 2.7e-16 2.7 -16 "" -0.679 -0.417 -0.548 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 192.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SERPINC1 ICD10 D68: Other coagulation defects EFO_0009314 2.54e-13 2.54 -13 250.757 oddsRatioConfidenceIntervalLower 1101.37 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079713 387478 1286 6.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LDLR LipidLowering Med (RGC) EFO_0007010 2.0300000000000002e-21 2.03 -21 3.832 oddsRatioConfidenceIntervalLower 5.056 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 128.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CREB3L3 Apolipoprotein A (30630) EFO_0004732 4.51e-16 4.51 -16 "" -0.35 -0.214 -0.282 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 597.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Arm predicted mass left (23126) EFO_0004302 7.3e-16 7.3 -16 "" -0.076 -0.046 -0.061 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 5843.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC ICD10 Z83.7: Family history of diseases of the digestive system EFO_0000493 8.16e-20 8.16 -20 54.591 oddsRatioConfidenceIntervalLower 129.067 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081342 387433 947 14.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" NF1 Non cancer illness code self reported - other neurological problem/ICD10 G98 EFO_0000618 5.05e-38 5.05 -38 31.477 oddsRatioConfidenceIntervalLower 53.18 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077843 329052 1701 35.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ASXL1 Current tobacco smoking - Yes on most or all days (1239) EFO_0005671 8.65e-15 8.65 -15 1.523 oddsRatioConfidenceIntervalLower 1.693 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077584 430498 33523 442.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GHRH Whole body water mass (23102) EFO_0009805 1.97e-13 1.97 -13 "" -0.439 -0.254 -0.347 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 143.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GHRH Whole body water mass (23102) EFO_0009805 1.97e-13 1.97 -13 "" -0.439 -0.254 -0.347 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 143.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOC3 Eosinophil count (30150) EFO_0004842 4.39e-13 4.39 -13 "" 0.104 0.181 0.143 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 2201.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 2.01e-16 2.01 -16 "" -3.074 -1.891 -2.482 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8409 8409 13.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GAS8 Hair colour natural before greying - Red (1747) EFO_0007822 2.26e-38 2.26 -38 1.833 oddsRatioConfidenceIntervalLower 2.009 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 599.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CASP7 ICD10 H26: Other cataract MONDO_0005129 1.05e-14 1.05 -14 1.714 oddsRatioConfidenceIntervalLower 1.965 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079893 384442 20291 275.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Trunk fat free mass (23129) EFO_0004995 7.15e-17 7.15 -17 "" 0.307 0.495 0.401 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 138.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LCORL Arm predicted mass right (23122) EFO_0004302 2.43e-13 2.43 -13 "" 0.255 0.441 0.348 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 138.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 Type of Cancer: Malignant neoplasm of breast (40006) EFO_0003869 3.8199999999999995e-24 3.82 -24 3.365 oddsRatioConfidenceIntervalLower 4.254 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079108 41005 12472 177.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" COL4A4 Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 8.39e-85 8.39 -85 "" 0.797 0.975 0.886 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 447.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Leg fat percentage left (23115) EFO_0007800 3.16e-15 3.16 -15 "" 0.099 0.164 0.131 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078918 423643 423643 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Basal metabolic rate (23105) EFO_0007777 2.18e-14 2.18 -14 "" 0.287 0.485 0.386 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 138.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ZFAT Trunk predicted mass (23130) EFO_0004324 1.58e-12 1.58 -12 "" 0.216 0.382 0.299 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 177.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" LCORL Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 1.02e-15 1.02 -15 "" 0.323 0.532 0.427 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 50.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Arm predicted mass left (23126) EFO_0004302 4.41e-26 4.41 -26 "" 0.209 0.305 0.257 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 554.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Trunk fat free mass (23129) EFO_0004995 2.76e-25 2.76 -25 "" -0.137 -0.093 -0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 2641.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC26A5 Hearing difficulty problems - Yes (2247) EFO_0007616 5.84e-13 5.84 -13 2.062 oddsRatioConfidenceIntervalLower 2.511 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 193.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" STAB1 Total protein (30860) EFO_0004536 1.17e-15 1.17 -15 "" 0.081 0.133 0.107 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 5171.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MYBPC3 ICD10 I42: Cardiomyopathy EFO_0000318 4.51e-25 4.51 -25 31.625 oddsRatioConfidenceIntervalLower 60.852 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 22.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Whole body water mass (23102) EFO_0009805 3.06e-14 3.06 -14 "" 0.227 0.384 0.306 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 197.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IRS1 Whole body water mass (23102) EFO_0009805 2.74e-23 2.74 -23 "" -0.571 -0.383 -0.477 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 140.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC5A2 Urate (30880) EFO_0004531 3.93e-15 3.93 -15 "" -0.166 -0.1 -0.133 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 2154.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Impedance of arm left (23110) HP_0000924 1.2800000000000001e-21 1.28 -21 "" 0.066 0.1 0.083 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 5849.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Eosinophil percentage (30210) EFO_0007991 1.92e-50 1.92 -50 "" -0.373 -0.287 -0.33 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 1791.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - ezetrol 10mg tablet EFO_0007010 2.07e-12 2.07 -12 43.109 oddsRatioConfidenceIntervalLower 123.119 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078227 320758 843 9.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APC ICD10 Z83.7: Family history of diseases of the digestive system EFO_0000493 5.51e-17 5.51 -17 66.802 oddsRatioConfidenceIntervalLower 178.577 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081342 387433 947 11.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" MC1R Ease of skin tanning - Get very tanned (1727) EFO_0007009 9.55e-115 9.55 -115 0.404 oddsRatioConfidenceIntervalLower 0.437 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 594.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Impedance of whole body (23106) HP_0000924 3.99e-18 3.99 -18 "" 0.062 0.099 0.081 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 5847.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK Glycated haemoglobin HbA1c (30750) EFO_0004541 2.29e-22 2.29 -22 "" 1.014 1.526 1.27 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 45.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC12A9 Hair colour natural before greying - Dark brown (1747) EFO_0007822 1.01e-13 1.01 -13 0.528 oddsRatioConfidenceIntervalLower 0.625 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 205.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" S1PR4 White blood cell leukocyte count (30000) EFO_0004308 1.22e-11 1.22 -11 "" -0.266 -0.147 -0.207 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 954.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PIEZO1 Reticulocyte percentage (30240) EFO_0010700 5.66e-17 5.66 -17 "" 0.04 0.064 0.052 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 23942.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB Vitamin D (30890) EFO_0004631 3.24e-52 3.24 -52 "" 0.48 0.622 0.551 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 687.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RASA3 Lymphocyte count (30120) EFO_0004587 2.58e-14 2.58 -14 "" -0.559 -0.33 -0.444 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 257.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CAD Mean corpuscular volume (30040) EFO_0004526 1.42e-26 1.42 -26 "" 0.53 0.769 0.649 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 210.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Haemoglobin concentration (30020) EFO_0004509 7.89e-12 7.89 -12 "" -1.704 -0.945 -1.325 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RHAG Reticulocyte count (30250) EFO_0007986 2.56e-15 2.56 -15 "" 0.328 0.544 0.436 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 285.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.11e-81 3.11 -81 "" -2.209 -1.797 -2.003 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PAPPA2 Leg predicted mass right (23114) EFO_0004302 5.98e-14 5.98 -14 "" -0.137 -0.08 -0.109 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 1621.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CHEK2 Degree bothered by menstrual cramps or other problems with period in the last three months - Not bothered at all (21050) EFO_0009724 1.99e-13 1.99 -13 0.191 oddsRatioConfidenceIntervalLower 0.297 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078791 27107 22936 131.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 Illnesses of siblings - Breast cancer (20111) EFO_0009640 9.7e-23 9.7 -23 3.939 oddsRatioConfidenceIntervalLower 5.179 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 84.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LRP5 Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 9.79e-14 9.79 -14 "" -0.76 -0.443 -0.601 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 120.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TUBB1 Platelet count (30080) EFO_0004309 1.4800000000000001e-105 1.48 -105 "" -1.055 -0.881 -0.968 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 382.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HNF1A ICD10 E11.9: Type 2 diabetes mellitus without complications MONDO_0005148 1.04e-11 1.04 -11 5.844 oddsRatioConfidenceIntervalLower 9.72 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079741 385838 26590 29.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NPR2 Comparative height size at age 10 - Shorter (1697) EFO_0004339 2.0200000000000003e-21 2.02 -21 1.846 oddsRatioConfidenceIntervalLower 2.095 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 413.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL8A2 Impedance of arm right (23109) HP_0000924 1.54e-14 1.54 -14 "" 0.132 0.222 0.177 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 811.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 ICD10 C92: Myeloid leukemia EFO_0002427 3.2900000000000002e-21 3.29 -21 9.96 oddsRatioConfidenceIntervalLower 16.04 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 32.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MLH1 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 1.79e-11 1.79 -11 14.879 oddsRatioConfidenceIntervalLower 32.692 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 16.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC22A7 Creatinine (30700) EFO_0004518 4.18e-35 4.18 -35 "" 0.2 0.275 0.237 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 1556.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD2 ICD10 Q61: Cystic kidney disease EFO_0008615 2.62e-26 2.62 -26 9.677 oddsRatioConfidenceIntervalLower 14.717 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 41.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SERPINH1 Standing height (50) EFO_0004339 2.72e-15 2.72 -15 "" -0.241 -0.145 -0.193 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 558.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" STC2 Arm predicted mass left (23126) EFO_0004302 1.53e-19 1.53 -19 "" 0.082 0.127 0.104 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 2488.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MSH2 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 4.63e-13 4.63 -13 6.389 oddsRatioConfidenceIntervalLower 10.558 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 27.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - ezetrol 10mg tablet EFO_0007010 8.66e-17 8.66 -17 7.941 oddsRatioConfidenceIntervalLower 12.937 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078227 320758 843 29.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NF1 ICD10 D36: Benign neoplasm of other and unspecified sites EFO_0002422 2.91e-52 2.91 -52 92.299 oddsRatioConfidenceIntervalLower 165.343 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079695 387660 899 34.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GMPR Mean corpuscular haemoglobin (30050) EFO_0004527 5.12e-74 5.12 -74 "" 0.362 0.45 0.406 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1619.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HGS Forced vital capacity FVC Z score (20257) EFO_0004312 2.55e-14 2.55 -14 "" 0.133 0.225 0.179 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078389 343302 343302 1655.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC45A2 Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 1.81e-16 1.81 -16 0.522 oddsRatioConfidenceIntervalLower 0.609 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 204.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean reticulocyte volume (30260) EFO_0010701 9.289999999999999e-42 9.29 -42 "" -1.599 -1.194 -1.396 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9692 9692 99.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB Triglycerides (30870) EFO_0004530 2.4199999999999998e-234 2.42 -234 "" -1.183 -1.049 -1.116 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 697.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Blood pressure medication (6177) EFO_0007010 6.09e-20 6.09 -20 0.39 oddsRatioConfidenceIntervalLower 0.478 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079487 69473 51432 224.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MPL Platelet count (30080) EFO_0004309 1.4200000000000001e-27 1.42 -27 "" 0.341 0.491 0.416 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 527.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PRPSAP1 Urate (30880) EFO_0004531 1.57e-12 1.57 -12 "" 0.151 0.267 0.209 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 700.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" WNT1 Sitting height (20015) EFO_0011011 1.12e-12 1.12 -12 "" -0.304 -0.173 -0.238 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 394.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SCUBE3 Basal metabolic rate (23105) EFO_0007777 1.12e-15 1.12 -15 "" -0.17 -0.103 -0.137 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 1216.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" STC2 Basal metabolic rate (23105) EFO_0007777 2.08e-19 2.08 -19 "" 0.084 0.131 0.108 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 2489.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK ICD10 E13.621.: Other specified diabetes mellitus with foot ulcer EFO_0000400 1.12e-11 1.12 -11 5.184 oddsRatioConfidenceIntervalLower 8.336 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079743 386731 8622 29.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FLG ICD10 J45.9: Other and unspecified asthma MONDO_0004979 3.84e-12 3.84 -12 1.225 oddsRatioConfidenceIntervalLower 1.298 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080140 385754 38114 1461.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCA1 Apolipoprotein A (30630) EFO_0004732 4.42e-50 4.42 -50 "" -1.783 -1.368 -1.576 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 64.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" APOC3 LDL direct (30780) EFO_0004611 5.66e-18 5.66 -18 "" -0.212 -0.134 -0.173 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 2150.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EXOC3L4 Mean platelet thrombocyte volume (30100) EFO_0004584 9.69e-19 9.69 -19 "" -0.489 -0.312 -0.401 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 345.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" DNMT3A ICD10 C92: Myeloid leukemia EFO_0002427 9.68e-12 9.68 -12 4.156 oddsRatioConfidenceIntervalLower 6.262 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 35.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 1.33e-19 1.33 -19 4.264 oddsRatioConfidenceIntervalLower 5.836 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 64.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MYOC Intra ocular pressure Goldmann correlated right (5255) EFO_0004695 1.93e-12 1.93 -12 "" 0.247 0.437 0.342 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079334 105888 105888 395.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PAPPA2 Leg predicted mass left (23118) EFO_0004302 1.72e-11 1.72 -11 "" -0.114 -0.062 -0.088 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 2008.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 5.57e-23 5.57 -23 4.39 oddsRatioConfidenceIntervalLower 5.888 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 74.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB Vitamin D (30890) EFO_0004631 1.4899999999999998e-30 1.49 -30 "" 0.51 0.72 0.615 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 314.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" UGT1A8 Direct bilirubin (30660) EFO_0004570 3.08e-33 3.08 -33 "" 0.272 0.379 0.326 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1136.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Non cancer illness code self reported - atrial fibrillation/ICD10 I48 EFO_0000275 3.12e-15 3.12 -15 2.351 oddsRatioConfidenceIntervalLower 2.908 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077882 329052 3763 116.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TNFRSF13B Neutrophil percentage (30200) EFO_0007990 2.91e-17 2.91 -17 "" 0.073 0.117 0.095 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 7135.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 N18: Chronic kidney disease (CKD) EFO_0003884 3.63e-31 3.63 -31 7.346 oddsRatioConfidenceIntervalLower 10.286 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080584 382843 10144 65.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" BRCA2 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 7.65e-16 7.65 -16 1.525 oddsRatioConfidenceIntervalLower 1.69 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 441.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGFBP3 IGF 1 (30770) EFO_0004627 2.43e-33 2.43 -33 "" -0.503 -0.362 -0.432 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 624.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IRS1 Leg fat free mass right (23113) EFO_0004995 4.75e-18 4.75 -18 "" -0.526 -0.332 -0.429 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 140.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SMAD6 3mm weak meridian left (5096) EFO_0004731 1.41e-14 1.41 -14 "" 0.256 0.431 0.343 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 404.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC2A9 Urate (30880) EFO_0004531 1.7999999999999998e-138 1.8 -138 "" -0.736 -0.63 -0.683 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 887.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ATR Mean reticulocyte volume (30260) EFO_0010701 1.19e-18 1.19 -18 "" -0.162 -0.103 -0.133 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 3706.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I42.9: Cardiomyopathy, unspecified EFO_0000318 6.62e-19 6.62 -19 5.907 oddsRatioConfidenceIntervalLower 8.742 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079999 387930 681 42.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MEPE Speed of sound through heel (3146) EFO_0005654 8.51e-14 8.51 -14 "" -0.395 -0.231 -0.313 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 453.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" COL1A1 Sitting height (20015) EFO_0011011 8.93e-12 8.93 -12 "" -0.686 -0.38 -0.533 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 72.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean corpuscular volume (30040) EFO_0004526 6.05e-108 6.05 -108 "" -2.412 -2.018 -2.215 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EGFL8 Non cancer illness code self reported - psoriasis EFO_0000676 3.45e-18 3.45 -18 2.355 oddsRatioConfidenceIntervalLower 2.857 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077855 331754 5389 139.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TSHR Treatment or Medication Code - levothyroxine sodium EFO_0007010 1.3800000000000001e-22 1.38 -22 2.432 oddsRatioConfidenceIntervalLower 2.906 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078224 320758 19017 182.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CRISPLD1 Seated height (51) EFO_0011011 2.21e-12 2.21 -12 "" -0.195 -0.11 -0.152 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 1085.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Hip circumference (49) EFO_0005093 7.93e-15 7.93 -15 "" 0.384 0.643 0.513 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079253 430214 430214 202.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I50: Heart failure EFO_0003144 3.59e-23 3.59 -23 4.454 oddsRatioConfidenceIntervalLower 5.984 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080023 387076 8159 73.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" APOB ICD10 E78.0: Pure hypercholesterolemia HP_0003124 4.86e-13 4.86 -13 0.303 oddsRatioConfidenceIntervalLower 0.419 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079766 378271 45730 27.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL4A3 Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 3.09e-20 3.09 -20 "" 0.268 0.413 0.341 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 675.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACAN Sitting height (20015) EFO_0011011 3.0800000000000004e-37 3.08 -37 "" -0.905 -0.664 -0.785 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 116.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACO1 Haemoglobin concentration (30020) EFO_0004509 8.49e-22 8.49 -22 "" 0.08 0.121 0.1 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 5181.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CAD Mean sphered cell volume (30270) EFO_0004526 1.48e-45 1.48 -45 "" 0.769 1.016 0.893 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 208.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CREB3L3 Apolipoprotein A (30630) EFO_0004732 5.06e-14 5.06 -14 "" -0.435 -0.255 -0.345 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 343.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Leg predicted mass right (23114) EFO_0004302 2.8000000000000002e-28 2.8 -28 "" 0.096 0.138 0.117 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 3012.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PDE3B Triglycerides (30870) EFO_0004530 3.12e-43 3.12 -43 "" -0.42 -0.316 -0.368 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 1159.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Leg fat mass right (23112) EFO_0005409 6.79e-14 6.79 -14 "" 0.294 0.502 0.398 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078915 423659 423659 197.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LRP5 Heel bone mineral density BMD T score automated (78) EFO_0009270 9.82e-14 9.82 -14 "" -0.76 -0.443 -0.601 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 120.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RRBP1 LDL direct (30780) EFO_0004611 8.79e-12 8.79 -12 "" -0.84 -0.465 -0.653 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 94.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" ZFAT Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 6.16e-16 6.16 -16 "" 0.102 0.168 0.135 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 508.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Arm predicted mass left (23126) EFO_0004302 2.98e-13 2.98 -13 "" 0.318 0.552 0.435 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 92.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANGPTL3 Cholesterol (30690) EFO_0004574 2.11e-11 2.11 -11 "" -0.584 -0.32 -0.452 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 186.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" COL1A1 Non cancer illness code self reported - bone disorder EFO_0004260 8.59e-17 8.59 -17 175.994 oddsRatioConfidenceIntervalLower 594.696 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077769 331754 988 9.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" TSHR Non cancer illness code self reported - hypothyroidism myxoedema EFO_0004705 1.93e-16 1.93 -16 2.366 oddsRatioConfidenceIntervalLower 2.905 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 140.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CALR Platelet count (30080) EFO_0004309 4.02e-14 4.02 -14 "" 0.192 0.327 0.26 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 647.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RPS6KB2 Mean corpuscular volume (30040) EFO_0004526 1.18e-15 1.18 -15 "" -0.116 -0.07 -0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 5805.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Arm fat free mass left (23125) EFO_0004995 5.93e-35 5.93 -35 "" 0.109 0.15 0.13 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 3011.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I50.0: Congestive heart failure (I50.0) EFO_0000373 8.83e-17 8.83 -17 2.553 oddsRatioConfidenceIntervalLower 3.183 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080020 387930 3182 110.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Reticulocyte count (30250) EFO_0007986 7.53e-13 7.53 -13 "" 0.498 0.872 0.685 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9692 9692 99.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC45A2 Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 1.81e-16 1.81 -16 0.522 oddsRatioConfidenceIntervalLower 0.609 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 204.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC1R Ease of skin tanning - Never tan only burn (1727) EFO_0007009 2.02e-249 2.02 -249 2.772 oddsRatioConfidenceIntervalLower 2.941 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 2060.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TMPRSS6 Red blood cell erythrocyte distribution width (30070) EFO_0009188 3.42e-38 3.42 -38 "" 0.27 0.367 0.318 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1412.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ABCA1 HDL cholesterol (30760) EFO_0004612 9.949999999999999e-292 9.95 -292 "" -0.683 -0.614 -0.648 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 2144.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" EIF2AK1 High light scatter reticulocyte count (30300) EFO_0007986 3.82e-15 3.82 -15 "" 0.172 0.286 0.229 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1015.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IQGAP2 Platelet distribution width (30110) EFO_0007984 1.72e-15 1.72 -15 "" 0.055 0.091 0.073 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 9653.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" JAK2 Platelet count (30080) EFO_0004309 4.26e-166 4.26 -166 "" 0.479 0.553 0.516 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 2164.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Whole body water mass (23102) EFO_0009805 6.82e-18 6.82 -18 "" -0.9 -0.567 -0.733 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 44.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" RHAG Reticulocyte count (30250) EFO_0007986 3.88e-45 3.88 -45 "" 0.791 1.046 0.918 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 204.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MEN1 ICD10 E21: Hyperparathyroidism and other disorders of parathyroid gland EFO_0008506 8.13e-23 8.13 -23 737.503 oddsRatioConfidenceIntervalLower 2750.38 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079753 387625 1168 10.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" OCA2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 2.95e-23 2.95 -23 3.777 oddsRatioConfidenceIntervalLower 4.91 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 122.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 Mean corpuscular haemoglobin (30050) EFO_0004527 1.49e-11 1.49 -11 "" 0.463 0.841 0.652 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 83.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GIGYF1 Cholesterol (30690) EFO_0004574 1.09e-13 1.09 -13 "" -0.812 -0.473 -0.643 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 112.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PALB2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 8.91e-16 8.91 -16 2.174 oddsRatioConfidenceIntervalLower 2.627 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 147.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EPB41 High light scatter reticulocyte count (30300) EFO_0007986 1.39e-13 1.39 -13 "" 0.379 0.653 0.516 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 178.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 Illnesses of mother - None of the above group 2 (20110) EFO_0000493 5.57e-15 5.57 -15 0.737 oddsRatioConfidenceIntervalLower 0.796 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078283 423686 308506 2055.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ATM ICD10 C77: Secondary and unspecified malignant neoplasm of lymph nodes MONDO_0024339 1e-13 10.0 -14 3.072 oddsRatioConfidenceIntervalLower 4.128 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079620 387882 7019 64.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CNNM4 Calcium (30680) EFO_0004838 5.85e-14 5.85 -14 "" 0.192 0.328 0.26 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 768.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Trunk fat free mass (23129) EFO_0004995 7.32e-15 7.32 -15 "" 0.225 0.377 0.301 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 213.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CHD2 ICD10 C91: Lymphoid leukemia EFO_0004289 8.7e-17 8.7 -17 70.944 oddsRatioConfidenceIntervalLower 193.584 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 11.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IQGAP2 Mean platelet thrombocyte volume (30100) EFO_0004584 1.61e-30 1.61 -30 "" 0.477 0.673 0.575 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 286.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RRBP1 Apolipoprotein B (30640) EFO_0004615 1.05e-27 1.05 -27 "" -0.792 -0.551 -0.671 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 220.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RRBP1 Apolipoprotein B (30640) EFO_0004615 5.67e-12 5.67 -12 "" -0.338 -0.189 -0.263 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 570.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CXCL6 Neutrophil percentage (30200) EFO_0007990 6.3e-17 6.3 -17 "" -0.125 -0.077 -0.101 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 6166.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CXCL2 Lymphocyte percentage (30180) EFO_0007993 6.76e-13 6.76 -13 "" 0.482 0.843 0.662 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 102.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS17 Impedance of arm left (23110) HP_0000924 1.65e-11 1.65 -11 "" -0.288 -0.158 -0.223 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 394.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CSF2RB Eosinophil percentage (30210) EFO_0007991 5.3700000000000004e-36 5.37 -36 "" -0.535 -0.39 -0.463 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 642.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CST3 Cystatin C (30720) EFO_0004617 9.42e-123 9.42 -123 "" -3.523 -2.982 -3.252 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 38.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" S1PR4 White blood cell leukocyte count (30000) EFO_0004308 1.71e-17 1.71 -17 "" -0.39 -0.244 -0.317 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 639.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ASXL1 Smoking status - Current (20116) EFO_0006527 4.19e-12 4.19 -12 2.318 oddsRatioConfidenceIntervalLower 2.941 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078302 429255 45239 103.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CRP C reactive protein (30710) EFO_0004458 1.65e-39 1.65 -39 "" -0.794 -0.588 -0.691 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079026 411229 411229 323.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" DGKD Calcium (30680) EFO_0004838 3.1e-16 3.1 -16 "" -0.817 -0.501 -0.659 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 140.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 5.83e-19 5.83 -19 1.651 oddsRatioConfidenceIntervalLower 1.843 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 406.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACVRL1 ICD10 I78: Diseases of capillaries EFO_0004264 1.93e-15 1.93 -15 690.568 oddsRatioConfidenceIntervalLower 3463.6 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 6.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" GP1BB Mean platelet thrombocyte volume (30100) EFO_0004584 1.67e-58 1.67 -58 "" 1.648 2.104 1.876 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 52.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SH2B3 Eosinophil count (30150) EFO_0004842 4.68e-15 4.68 -15 "" 0.12 0.2 0.16 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 2045.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 ICD10 D69.6: Thrombocytopenia, unspecified HP_0001873 3.02e-12 3.02 -12 4.076 oddsRatioConfidenceIntervalLower 6.049 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079714 387579 1788 38.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 3mm strong meridian left (5135) EFO_0004731 7.2e-18 7.2 -18 "" 0.572 0.908 0.74 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079301 103531 103531 109.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC ICD10 D13: Benign neoplasm of other and ill-defined parts of digestive system EFO_0002422 2.3300000000000002e-29 2.33 -29 71.302 oddsRatioConfidenceIntervalLower 149.957 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079664 387696 1532 20.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD1 ICD10 I12.0: Hypertensive chronic kidney disease with stage 5 chronic kidney disease or end stage renal disease MONDO_0024633 2.72e-24 2.72 -24 26.26 oddsRatioConfidenceIntervalLower 49.3 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079963 387930 1504 23.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Comparative height size at age 10 - Shorter (1697) EFO_0004339 4.48e-14 4.48 -14 4.568 oddsRatioConfidenceIntervalLower 6.777 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 59.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 2.01e-16 2.01 -16 "" -3.074 -1.891 -2.482 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8409 8409 13.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RHAG Mean corpuscular haemoglobin concentration (30060) EFO_0004528 1.5e-14 1.5 -14 "" 0.381 0.641 0.511 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 209.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SHBG SHBG (30830) EFO_0004696 2.55e-35 2.55 -35 "" -1.602 -1.165 -1.383 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 58.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IRS1 Trunk predicted mass (23130) EFO_0004324 4.43e-25 4.43 -25 "" -0.587 -0.4 -0.494 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 140.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ENG ICD10 I78: Diseases of capillaries EFO_0004264 5.78e-17 5.78 -17 26.986 oddsRatioConfidenceIntervalLower 58.381 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 15.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 5.47e-12 5.47 -12 2.783 oddsRatioConfidenceIntervalLower 3.723 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 84.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SF3B1 Type of Cancer: Lymphoid leukemia (40006) EFO_0004289 7.84e-13 7.84 -13 15.308 oddsRatioConfidenceIntervalLower 32.292 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079125 74230 699 15.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Whole body fat mass (23100) EFO_0005409 5.14e-13 5.14 -13 "" 0.34 0.594 0.467 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078904 423023 423023 197.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FLG Non cancer illness code self reported - asthma/ICD10 J45 MONDO_0004979 5.95e-14 5.95 -14 1.23 oddsRatioConfidenceIntervalLower 1.298 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077672 329051 45415 1748.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCB4 Non cancer illness code self reported - cholelithiasis gall stones EFO_0004210 1.69e-12 1.69 -12 2.41 oddsRatioConfidenceIntervalLower 3.078 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077704 331754 7669 109.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOC3 HDL cholesterol (30760) EFO_0004612 2.2300000000000002e-307 2.23 -307 "" 0.763 0.835 0.799 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1981.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCB11 Alkaline phosphatase (30610) EFO_0004533 9.47e-43 9.47 -43 "" 0.222 0.297 0.26 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 2172.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Leg predicted mass left (23118) EFO_0004302 1.38e-31 1.38 -31 "" 0.164 0.23 0.197 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC4A1 Reticulocyte count (30250) EFO_0007986 5.81e-25 5.81 -25 "" 0.864 1.269 1.066 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 81.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 ICD10 D36: Benign neoplasm of other and unspecified sites EFO_0002422 2.63e-41 2.63 -41 18.928 oddsRatioConfidenceIntervalLower 29.044 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079695 387660 899 46.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PCSK9 LipidLowering Med (RGC) EFO_0007010 2.14e-16 2.14 -16 0.317 oddsRatioConfidenceIntervalLower 0.417 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 47.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PIEZO1 Whole body fat free mass (23101) EFO_0004995 6.66e-15 6.66 -15 "" -0.036 -0.022 -0.029 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 24592.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PROS1 TAG VTE CC (RGC) EFO_0004286 2.49e-13 2.49 -13 7.664 oddsRatioConfidenceIntervalLower 13.222 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081530 231542 10941 30.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" NPR2 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 1.27e-11 1.27 -11 "" -0.556 -0.307 -0.431 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 35.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK Glycated haemoglobin HbA1c (30750) EFO_0004541 1.03e-18 1.03 -18 "" 1.255 1.97 1.612 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 23.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" TTN ICD10 I50: Heart failure EFO_0003144 1.92e-21 1.92 -21 2.085 oddsRatioConfidenceIntervalLower 2.426 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080023 387076 8159 226.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" S1PR4 Neutrophil count (30140) EFO_0004833 2.4e-13 2.4 -13 "" -0.346 -0.2 -0.273 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 636.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APC ICD10 Z87.1: Personal history of diseases of the digestive system EFO_0000405 6.57e-15 6.57 -15 7.754 oddsRatioConfidenceIntervalLower 12.979 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081368 386566 20497 29.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Forced expiratory volume in 1 second FEV1 Best measure (20150) EFO_0004314 1.96e-12 1.96 -12 "" -0.14 -0.079 -0.109 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078316 322002 322002 2001.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" EGLN1 Haematocrit percentage (30030) EFO_0004348 1.03e-14 1.03 -14 "" 0.484 0.812 0.648 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 85.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SH2B3 High light scatter reticulocyte percentage (30290) EFO_0010700 5.03e-17 5.03 -17 "" 0.1 0.16 0.13 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 3655.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CALR ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 4.54e-16 4.54 -16 36.256 oddsRatioConfidenceIntervalLower 86.224 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 13.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" DENND4B Platelet distribution width (30110) EFO_0007984 4.54e-14 4.54 -14 "" -0.269 -0.158 -0.214 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1020.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 1.0900000000000001e-36 1.09 -36 "" -2.951 -2.159 -2.555 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 19.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SCARB1 Cholesterol (30690) EFO_0004574 2.25e-22 2.25 -22 "" 0.15 0.225 0.187 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 2271.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 Mother still alive - Yes (1835) EFO_0007796 6.18e-14 6.18 -14 0.617 oddsRatioConfidenceIntervalLower 0.7 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077615 423687 167942 491.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SCUBE3 Comparative height size at age 10 - Shorter (1697) EFO_0004339 5.45e-12 5.45 -12 2.009 oddsRatioConfidenceIntervalLower 2.449 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 171.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SPTA1 Total bilirubin (30840) EFO_0004570 2.2e-26 2.2 -26 "" 0.357 0.519 0.438 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 365.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PDE3B Leg fat free mass right (23113) EFO_0004995 1.98e-14 1.98 -14 "" 0.073 0.124 0.099 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 2067.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 ICD10 C92: Myeloid leukemia EFO_0002427 2.19e-21 2.19 -21 11.19 oddsRatioConfidenceIntervalLower 18.42 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 30.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GCK OralDiabetes Med (RGC) EFO_0007010 1.08e-14 1.08 -14 17.816 oddsRatioConfidenceIntervalLower 36.981 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081503 320758 13132 18.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HK1 Glycated haemoglobin HbA1c (30750) EFO_0004541 4.19e-15 4.19 -15 "" -0.996 -0.598 -0.797 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 76.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGF1R Leg fat free mass right (23113) EFO_0004995 5.79e-22 5.79 -22 "" -0.215 -0.142 -0.179 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 995.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LCORL Leg predicted mass right (23114) EFO_0004302 9.74e-14 9.74 -14 "" 0.254 0.436 0.345 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 157.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LPL Triglycerides (30870) EFO_0004530 1.09e-14 1.09 -14 "" 0.338 0.567 0.452 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 239.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" NF1 Neutrophil count (30140) EFO_0004833 1.16e-12 1.16 -12 "" 0.274 0.483 0.378 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 314.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Waist circumference (48) EFO_0004342 1.53e-25 1.53 -25 "" 0.23 0.337 0.283 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079228 430261 430261 955.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RHOF Mean platelet thrombocyte volume (30100) EFO_0004584 7.23e-26 7.23 -26 "" 0.391 0.57 0.481 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 361.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GP1BA Platelet crit (30090) EFO_0007985 3.23e-12 3.23 -12 "" -0.585 -0.328 -0.456 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 178.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GAS8 Skin colour - Light olive (1717) EFO_0003784 3.21e-16 3.21 -16 0.769 oddsRatioConfidenceIntervalLower 0.819 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 1224.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANGPTL4 Triglycerides (30870) EFO_0004530 1.78e-19 1.78 -19 "" -0.452 -0.29 -0.371 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 480.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF1R Trunk fat free mass (23129) EFO_0004995 1.71e-14 1.71 -14 "" -0.141 -0.084 -0.112 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 1485.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Mean platelet thrombocyte volume (30100) EFO_0004584 1.41e-17 1.41 -17 "" 0.142 0.227 0.185 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1517.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" FLG Age hay fever rhinitis or eczema diagnosed (3761) EFO_0003956 6.22e-20 6.22 -20 "" -0.271 -0.176 -0.224 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079072 88602 88602 1529.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 ICD10 I12.0: Hypertensive chronic kidney disease with stage 5 chronic kidney disease or end stage renal disease MONDO_0024633 5.82e-19 5.82 -19 6.756 oddsRatioConfidenceIntervalLower 10.292 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079963 387930 1504 38.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RTEL1 Mean reticulocyte volume (30260) EFO_0010701 1.21e-13 1.21 -13 "" 0.272 0.468 0.37 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 336.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MSH6 ICD10 C54.1: Malignant neoplasm of endometrium MONDO_0011962 3.48e-23 3.48 -23 12.942 oddsRatioConfidenceIntervalLower 21.467 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079607 228786 1469 31.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ATM DD Cancer - Yes (2453) EFO_0000311 1.34e-11 1.34 -11 1.283 oddsRatioConfidenceIntervalLower 1.38 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 922.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Leg fat free mass left (23117) EFO_0004995 1.88e-12 1.88 -12 "" 0.205 0.363 0.284 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 213.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LCORL Trunk fat free mass (23129) EFO_0004995 2.55e-16 2.55 -16 "" 0.281 0.457 0.369 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 157.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IL33 AllergicDiseaseCases vs AllergicDiseaseControls (RGC) MONDO_0005271 1.62e-20 1.62 -20 0.681 oddsRatioConfidenceIntervalLower 0.739 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081451 354024 73382 665.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCB11 Gamma glutamyltransferase (30730) EFO_0004532 1.57e-14 1.57 -14 "" -0.179 -0.106 -0.142 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 2169.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Impedance of leg left (23108) HP_0000924 1.57e-16 1.57 -16 "" 0.104 0.169 0.136 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 2646.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" DDR2 Standing height (50) EFO_0004339 3.19e-18 3.19 -18 "" -0.144 -0.091 -0.118 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1860.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR CAD Loose CC (RGC) EFO_0001645 5.01e-12 5.01 -12 3.226 oddsRatioConfidenceIntervalLower 4.498 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081465 387011 33971 61.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANKRD12 Index of Multiple Deprivation England (26410) EFO_0009711 9.19e-13 9.19 -13 "" 0.304 0.534 0.419 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078952 369491 369491 273.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" THBS4 3mm weak meridian left (5096) EFO_0004731 9.24e-20 9.24 -20 "" -0.334 -0.216 -0.275 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 889.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK T2D New Strict CC (RGC) MONDO_0005148 4.83e-31 4.83 -31 9.398 oddsRatioConfidenceIntervalLower 13.729 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081517 352271 11970 56.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PDE3B Comparative height size at age 10 - Taller (1697) EFO_0004339 6.75e-13 6.75 -13 1.596 oddsRatioConfidenceIntervalLower 1.814 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 429.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYRP1 Hair colour natural before greying - Black (1747) EFO_0007822 1.31e-16 1.31 -16 0.317 oddsRatioConfidenceIntervalLower 0.416 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077610 429979 20623 38.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Leg fat free mass right (23113) EFO_0004995 1.68e-15 1.68 -15 "" 0.25 0.413 0.331 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 197.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CXCR4 White blood cell leukocyte count (30000) EFO_0004308 9.080000000000001e-21 9.08 -21 "" 0.374 0.573 0.474 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 345.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" KDM5B Hand grip strength right (47) EFO_0006941 2.45e-15 2.45 -15 "" -0.414 -0.25 -0.332 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 256.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RNF186 Creatinine (30700) EFO_0004518 8.379999999999999e-24 8.38 -24 "" 0.203 0.301 0.252 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 908.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LTBP3 Standing height (50) EFO_0004339 8.16e-14 8.16 -14 "" -0.105 -0.061 -0.083 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2723.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ALDOB Apolipoprotein A (30630) EFO_0004732 1.69e-13 1.69 -13 "" 0.058 0.1 0.079 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 6324.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB High light scatter reticulocyte percentage (30290) EFO_0010700 5.38e-13 5.38 -13 "" 0.502 0.876 0.689 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 96.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MFRP SphericalEquivalent r (RGC) EFO_0004731 2.06e-11 2.06 -11 "" 0.18 0.328 0.254 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081512 107475 107475 608.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 Urea (30670) EFO_0009795 3.53e-29 3.53 -29 "" 0.483 0.688 0.586 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 311.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PIEZO1 Sitting height (20015) EFO_0011011 2.14e-12 2.14 -12 "" -0.264 -0.149 -0.206 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 508.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TFR2 Mean corpuscular volume (30040) EFO_0004526 5.92e-20 5.92 -20 "" 0.198 0.306 0.252 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1024.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN ICD10 I48: Atrial fibrillation and flutter EFO_0000275 6.42e-32 6.42 -32 2.05 oddsRatioConfidenceIntervalLower 2.311 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080015 386856 20107 386.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Whole body fat mass (23100) EFO_0005409 2.08e-22 2.08 -22 "" 0.204 0.307 0.256 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078904 423023 423023 1199.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CAD Mean reticulocyte volume (30260) EFO_0010701 3.7200000000000003e-66 3.72 -66 "" 1.088 1.369 1.229 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 164.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LDLR Blood pressure medication (6177) EFO_0007010 6.09e-20 6.09 -20 0.39 oddsRatioConfidenceIntervalLower 0.478 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079487 69473 51432 224.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 2.94e-13 2.94 -13 "" -2.664 -1.536 -2.1 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 14.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" G6PC Urate (30880) EFO_0004531 1.18e-12 1.18 -12 "" 0.106 0.186 0.146 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 1451.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" COL4A4 Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 8.39e-85 8.39 -85 "" 0.797 0.975 0.886 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 447.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I50.0: Congestive heart failure (I50.0) EFO_0000373 4.89e-22 4.89 -22 4.014 oddsRatioConfidenceIntervalLower 5.323 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080020 387930 3182 76.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PDE3B Trunk fat mass (23128) EFO_0005409 1.58e-11 1.58 -11 "" 0.099 0.18 0.139 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078931 423433 423433 2066.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Basal metabolic rate (23105) EFO_0007777 1.38e-11 1.38 -11 "" 0.218 0.397 0.308 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 170.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GRAMD2 Seated height (51) EFO_0011011 2.17e-11 2.17 -11 "" 0.034 0.062 0.048 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 10066.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TSHR Non cancer illness code self reported - hypothyroidism myxoedema/ICD10 E03 EFO_0004705 1.54e-11 1.54 -11 2.161 oddsRatioConfidenceIntervalLower 2.703 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077731 329052 18362 111.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FLG Age hay fever rhinitis or eczema diagnosed (3761) EFO_0004847 6.22e-20 6.22 -20 "" -0.271 -0.176 -0.224 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079072 88602 88602 1529.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 ICD10 C92: Myeloid leukemia EFO_0002427 5.06e-36 5.06 -36 17.93 oddsRatioConfidenceIntervalLower 28.161 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 41.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KDM5B Duration to first press of snap button in each round (404) EFO_0008354 4.35e-14 4.35 -14 "" 0.321 0.546 0.434 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079143 428085 428085 253.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Platelet count (30080) EFO_0004309 2.46e-18 2.46 -18 "" -0.239 -0.152 -0.196 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1517.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MFRP 3mm weak meridian left (5096) EFO_0004731 1.81e-11 1.81 -11 "" 0.175 0.32 0.248 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 594.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean corpuscular volume (30040) EFO_0004526 6.05e-108 6.05 -108 "" -2.412 -2.018 -2.215 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHD2 Lymphocyte percentage (30180) EFO_0007993 6.05e-12 6.05 -12 "" 0.517 0.929 0.723 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 78.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" FLCN Non cancer illness code self reported - spontaneous pneumothorax recurrent pneumothorax/ICD10 J93 HP_0002108 6.9e-18 6.9 -18 41.767 oddsRatioConfidenceIntervalLower 97.614 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077686 329051 839 14.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OCA2 Hair colour natural before greying - Blonde (1747) EFO_0007822 2.2300000000000002e-307 2.23 -307 3.372 oddsRatioConfidenceIntervalLower 3.594 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 2980.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.1200000000000001e-22 1.12 -22 "" 1.661 2.491 2.076 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 19.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MYOC ICD10 H40.9: Unspecified glaucoma EFO_0000516 2.19e-18 2.19 -18 4.612 oddsRatioConfidenceIntervalLower 6.496 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079908 387930 3672 53.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Weight (23098) EFO_0004338 3.26e-30 3.26 -30 "" 0.222 0.314 0.268 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CYR61 Impedance of leg left (23108) HP_0000924 3.3e-14 3.3 -14 "" 0.055 0.093 0.074 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 7640.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGF1R Trunk fat free mass (23129) EFO_0004995 2.16e-13 2.16 -13 "" -0.622 -0.36 -0.491 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 71.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PAPPA2 Trunk fat free mass (23129) EFO_0004995 2.01e-14 2.01 -14 "" -0.122 -0.072 -0.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 2007.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CALR Platelet count (30080) EFO_0004309 2.46e-84 2.46 -84 "" 1.811 2.217 2.014 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 71.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR ICD10 I25.1: Atherosclerotic heart disease of native coronary artery EFO_0001645 2.24e-18 2.24 -18 2.159 oddsRatioConfidenceIntervalLower 2.566 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079978 387911 23129 192.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGF1R Whole body fat free mass (23101) EFO_0004995 4.08e-21 4.08 -21 "" -0.269 -0.177 -0.223 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 568.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" NPR2 Seated height (51) EFO_0011011 2.21e-16 2.21 -16 "" -0.2 -0.123 -0.161 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 1332.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HAL Vitamin D (30890) EFO_0004631 2.79e-16 2.79 -16 "" 0.088 0.144 0.116 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 4546.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GHRH Standing height (50) EFO_0004339 5.72e-13 5.72 -13 "" -0.506 -0.29 -0.398 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 109.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SPHK1 Monocyte percentage (30190) EFO_0007989 4.93e-12 4.93 -12 "" -0.103 -0.057 -0.08 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 6077.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASXL1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.19e-16 6.19 -16 "" 0.413 0.677 0.545 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 187.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" CALR Platelet crit (30090) EFO_0007985 1.25e-19 1.25 -19 "" 0.327 0.507 0.417 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 361.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TYR Skin colour - Light olive (1717) EFO_0003784 8.12e-15 8.12 -15 0.32 oddsRatioConfidenceIntervalLower 0.427 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 41.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 1.59e-13 1.59 -13 12.366 oddsRatioConfidenceIntervalLower 24.117 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 21.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" GHRH Trunk predicted mass (23130) EFO_0004324 2.03e-15 2.03 -15 "" -0.465 -0.281 -0.373 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 143.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SPATA33 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 2.2500000000000002e-21 2.25 -21 0.657 oddsRatioConfidenceIntervalLower 0.716 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 548.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK OralDiabetes Med (RGC) EFO_0007010 1.08e-14 1.08 -14 17.816 oddsRatioConfidenceIntervalLower 36.981 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081503 320758 13132 18.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IRS1 Standing height (50) EFO_0004339 8.89e-16 8.89 -16 "" -0.611 -0.372 -0.491 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 91.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" FLT3 Monocyte percentage (30190) EFO_0007989 6.18e-18 6.18 -18 "" 0.211 0.335 0.273 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 814.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF1R Basal metabolic rate (23105) EFO_0007777 1.93e-13 1.93 -13 "" -0.144 -0.083 -0.113 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 1485.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPSB3 Leg predicted mass right (23114) EFO_0004302 2.89e-19 2.89 -19 "" -0.079 -0.051 -0.065 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 6512.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NR1H4 Alkaline phosphatase (30610) EFO_0004533 1.43e-14 1.43 -14 "" -0.11 -0.065 -0.087 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 6055.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 6.48e-86 6.48 -86 "" -2.278 -1.865 -2.071 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9690 9690 99.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGF1R Basal metabolic rate (23105) EFO_0007777 3.96e-20 3.96 -20 "" -0.21 -0.136 -0.173 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 995.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SMAD6 6mm weak meridian left (5097) EFO_0004731 1.27e-17 1.27 -17 "" 0.324 0.516 0.42 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 331.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FLG AllergicDiseaseCases vs AllergicDiseaseControls (RGC) MONDO_0005271 8.5e-23 8.5 -23 1.256 oddsRatioConfidenceIntervalLower 1.314 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081451 354024 73382 2766.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCA1 Apolipoprotein A (30630) EFO_0004732 7.21e-12 7.21 -12 "" -0.831 -0.461 -0.646 "" SAS HANCESTRO_0006 UK Biobank 450k "" 8973 8973 86.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CASR Calcium (30680) EFO_0004838 1.45e-32 1.45 -32 "" 1.468 2.048 1.758 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 42.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGF1R Leg fat free mass left (23117) EFO_0004995 1.95e-19 1.95 -19 "" -0.474 -0.305 -0.389 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 185.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" ACAN Arm fat free mass right (23121) EFO_0004995 1.44e-15 1.44 -15 "" -0.84 -0.509 -0.674 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 44.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" BRCA1 Ever had hysterectomy womb removed - Yes (3591) EFO_0003881 1.19e-12 1.19 -12 3.42 oddsRatioConfidenceIntervalLower 4.8 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079065 207093 18107 58.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.59e-14 1.59 -14 "" 1.326 2.235 1.781 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CXCL6 White blood cell leukocyte count (30000) EFO_0004308 3.68e-16 3.68 -16 "" -0.121 -0.074 -0.098 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 6179.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR ICD10 E78: Disorders of lipoprotein metabolism and other lipidemias Orphanet_79062 1.8e-17 1.8 -17 3.435 oddsRatioConfidenceIntervalLower 4.564 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079768 372199 51365 94.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CALR Red blood cell erythrocyte distribution width (30070) EFO_0009188 4.63e-18 4.63 -18 "" 0.735 1.165 0.95 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 71.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC ICD10 K91.4: Colostomy and enterostomy malfunction (K91.4) EFO_0000405 2.5e-14 2.5 -14 63.128 oddsRatioConfidenceIntervalLower 183.296 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080316 387930 635 9.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RIOK3 High light scatter reticulocyte count (30300) EFO_0007986 1.4800000000000002e-21 1.48 -21 "" 0.092 0.14 0.116 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 5835.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 6mm weak meridian left (5097) EFO_0004731 2.85e-17 2.85 -17 "" 0.595 0.954 0.774 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 95.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 2e-12 2.0 -12 5.157 oddsRatioConfidenceIntervalLower 8.145 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 40.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" SH2B3 Platelet count (30080) EFO_0004309 2.35e-12 2.35 -12 "" 0.302 0.536 0.419 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 215.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Whole body water mass (23102) EFO_0009805 6.82e-18 6.82 -18 "" -0.9 -0.567 -0.733 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 44.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" PKD1 ICD10 I12.0: Hypertensive chronic kidney disease with stage 5 chronic kidney disease or end stage renal disease MONDO_0024633 4.37e-24 4.37 -24 17.925 oddsRatioConfidenceIntervalLower 31.344 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079963 387930 1504 27.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" MC4R Comparative body size at age 10 - Plumper (1687) EFO_0009819 2.88e-50 2.88 -50 2.704 oddsRatioConfidenceIntervalLower 3.082 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077589 423612 68629 403.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Comparative height size at age 10 - Taller (1697) EFO_0004339 6.75e-13 6.75 -13 1.596 oddsRatioConfidenceIntervalLower 1.814 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 429.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OR51V1 Mean sphered cell volume (30270) EFO_0004526 3.24e-19 3.24 -19 "" -1.294 -0.829 -1.061 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9690 9690 79.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R Whole body fat free mass (23101) EFO_0004995 3.98e-15 3.98 -15 "" -0.144 -0.086 -0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 1485.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKLR Red blood cell erythrocyte count (30010) EFO_0004305 9.37e-14 9.37 -14 "" -0.242 -0.141 -0.191 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 934.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GHRH Trunk fat free mass (23129) EFO_0004995 1.9e-15 1.9 -15 "" -0.467 -0.282 -0.375 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 143.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FLG Age hay fever rhinitis or eczema diagnosed (3761) EFO_0004847 1.7999999999999998e-35 1.8 -35 "" -0.246 -0.179 -0.213 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079072 88602 88602 3170.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KLF1 Haemoglobin concentration (30020) EFO_0004509 1.88e-16 1.88 -16 "" -0.482 -0.297 -0.389 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 250.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ALB Albumin (30600) EFO_0004535 4.33e-33 4.33 -33 "" -1.68 -1.208 -1.444 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 61.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" IL33 ChildhoodAsthmaCases vs AllergicDiseaseControls (RGC) MONDO_0005405 2.63e-13 2.63 -13 0.539 oddsRatioConfidenceIntervalLower 0.636 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081473 297425 16952 121.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CNPY2 Sitting height (20015) EFO_0011011 2.44e-13 2.44 -13 "" -0.307 -0.177 -0.242 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 405.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SCUBE3 Sitting height (20015) EFO_0011011 2.04e-12 2.04 -12 "" -0.545 -0.307 -0.426 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 121.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CAD Mean corpuscular volume (30040) EFO_0004526 6.1e-15 6.1 -15 "" 0.082 0.137 0.11 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 3959.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R Trunk predicted mass (23130) EFO_0004324 2.55e-14 2.55 -14 "" -0.14 -0.083 -0.111 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 1485.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Impedance of whole body (23106) HP_0000924 4.31e-13 4.31 -13 "" -0.461 -0.265 -0.363 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 197.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC12A1 Urea (30670) EFO_0009795 2.95e-12 2.95 -12 "" 0.05 0.089 0.07 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 8670.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Leg predicted mass left (23118) EFO_0004302 2.82e-12 2.82 -12 "" 0.201 0.358 0.28 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 213.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LDLR LipidLowering Med (RGC) EFO_0007010 2.98e-21 2.98 -21 8.292 oddsRatioConfidenceIntervalLower 12.85 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 60.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" CLSPN Mean sphered cell volume (30270) EFO_0004526 8.98e-12 8.98 -12 "" 0.259 0.467 0.363 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 293.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GIGYF1 Education score England (26414) EFO_0011015 1.97e-13 1.97 -13 "" 0.456 0.787 0.621 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078953 369491 369491 132.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GFPT2 Trunk predicted mass (23130) EFO_0004324 1.59e-11 1.59 -11 "" -0.091 -0.05 -0.07 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 2921.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SCUBE3 Arm fat free mass left (23125) EFO_0004995 7.48e-13 7.48 -13 "" -0.116 -0.066 -0.091 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 2062.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TMPRSS6 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.07e-13 2.07 -13 "" -0.21 -0.121 -0.166 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 1822.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FBN2 Impedance of arm left (23110) HP_0000924 2.02e-11 2.02 -11 "" 0.153 0.28 0.217 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 415.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" SCUBE3 Whole body fat free mass (23101) EFO_0004995 6.27e-16 6.27 -16 "" -0.163 -0.099 -0.131 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 1216.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MYO6 Hearing aid user - Yes (3393) EFO_0009720 5.23e-20 5.23 -20 2.129 oddsRatioConfidenceIntervalLower 2.502 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079053 281979 15741 209.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 7.12e-16 7.12 -16 2.344 oddsRatioConfidenceIntervalLower 2.883 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 136.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 High light scatter reticulocyte count (30300) EFO_0007986 4.02e-20 4.02 -20 "" 0.16 0.246 0.203 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1767.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC34A1 Creatinine (30700) EFO_0004518 1.94e-13 1.94 -13 "" 0.122 0.211 0.166 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 1119.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Total bilirubin (30840) EFO_0004570 1.69e-13 1.69 -13 "" 0.416 0.718 0.567 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 105.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" STAB1 IGF 1 (30770) EFO_0004627 4.46e-12 4.46 -12 "" -0.135 -0.076 -0.105 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 3471.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Leg fat free mass left (23117) EFO_0004995 4.72e-20 4.72 -20 "" 0.106 0.164 0.135 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 1594.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD1 ICD10 Z94: Transplanted organ and tissue status EFO_0002571 1.85e-16 1.85 -16 2.345 oddsRatioConfidenceIntervalLower 2.872 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081418 387906 1305 127.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IL17RA Monocyte percentage (30190) EFO_0007989 2.2300000000000002e-307 2.23 -307 "" -0.459 -0.414 -0.436 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 6105.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Forced expiratory volume in 1 second FEV1 (3063) EFO_0004314 4.96e-12 4.96 -12 "" -0.097 -0.054 -0.075 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079017 395451 395451 4124.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CLDN10 Cystatin C (30720) EFO_0004617 3.2400000000000004e-33 3.24 -33 "" 0.456 0.634 0.545 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 327.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MPL Platelet count (30080) EFO_0004309 5.7100000000000006e-27 5.71 -27 "" 0.336 0.486 0.411 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 527.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GMPR Mean corpuscular volume (30040) EFO_0004526 1.61e-15 1.61 -15 "" 0.172 0.285 0.228 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 982.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHTF18 Mean corpuscular volume (30040) EFO_0004526 3.3e-12 3.3 -12 "" 0.054 0.096 0.075 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 6785.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SRSF2 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.32e-15 1.32 -15 "" 0.413 0.681 0.547 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 182.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LRP5 Speed of sound through heel left (4103) EFO_0005654 1.82e-11 1.82 -11 "" -1.333 -0.731 -1.032 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079150 166283 166283 34.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SF3B1 Type of Cancer: Lymphoid leukemia (40006) EFO_0004289 7.84e-13 7.84 -13 15.308 oddsRatioConfidenceIntervalLower 32.292 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079125 74230 699 15.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGF1R IGF 1 (30770) EFO_0004627 7.11e-13 7.11 -13 "" 0.123 0.216 0.169 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1432.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Leg fat free mass right (23113) EFO_0004995 1e-13 10.0 -14 "" 0.256 0.439 0.347 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 157.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOC3 Cholesterol lowering medication (6177) EFO_0007010 1.67e-12 1.67 -12 0.437 oddsRatioConfidenceIntervalLower 0.55 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079486 69473 49091 173.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CRISPLD1 Seated height (51) EFO_0011011 2.21e-12 2.21 -12 "" -0.195 -0.11 -0.152 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 1085.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR ICD10 I25.1: Atherosclerotic heart disease of native coronary artery EFO_0001645 5.14e-18 5.14 -18 4.142 oddsRatioConfidenceIntervalLower 5.716 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079978 387911 23129 67.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Reticulocyte count (30250) EFO_0007986 5.870000000000001e-26 5.87 -26 "" 0.814 1.186 1.0 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 96.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SBNO2 Lymphocyte count (30120) EFO_0004587 6.92e-14 6.92 -14 "" 0.11 0.187 0.148 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 2259.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PDE10A IGF 1 (30770) EFO_0004627 1.82e-13 1.82 -13 "" 0.291 0.501 0.396 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 277.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" INSC Heel bone mineral density BMD T score automated right (4125) EFO_0009270 6.65e-14 6.65 -14 "" 0.069 0.118 0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079159 166358 166358 5126.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PALB2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.44e-11 1.44 -11 1.498 oddsRatioConfidenceIntervalLower 1.684 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 363.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGF1R Arm predicted mass left (23126) EFO_0004302 1.51e-11 1.51 -11 "" -0.129 -0.071 -0.1 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 1485.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CRLF3 Platelet distribution width (30110) EFO_0007984 3.83e-12 3.83 -12 "" -0.261 -0.146 -0.203 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 939.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MLH1 ICD10 Z08: Encounter for follow-up examination after completed treatment for malignant neoplasm EFO_0004542 6.81e-16 6.81 -16 11.876 oddsRatioConfidenceIntervalLower 21.654 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081200 387917 6079 22.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Haemoglobin concentration (30020) EFO_0004509 7.89e-12 7.89 -12 "" -1.704 -0.945 -1.325 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Impedance of arm left (23110) HP_0000924 3.84e-30 3.84 -30 "" 0.094 0.134 0.114 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 4408.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ASXL1 Current tobacco smoking - Yes on most or all days (1239) EFO_0005671 1.3399999999999998e-34 1.34 -34 2.872 oddsRatioConfidenceIntervalLower 3.399 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077584 430498 33523 214.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC ICD10 D13: Benign neoplasm of other and ill-defined parts of digestive system EFO_0002422 7.820000000000001e-26 7.82 -26 95.868 oddsRatioConfidenceIntervalLower 224.517 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079664 387696 1532 16.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" RRM2 Mean corpuscular haemoglobin (30050) EFO_0004527 2.37e-14 2.37 -14 "" 0.36 0.609 0.484 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 193.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LRP2 Urate (30880) EFO_0004531 8.71e-17 8.71 -17 "" 0.266 0.43 0.348 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 351.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RUNX1 Platelet crit (30090) EFO_0007985 2.92e-13 2.92 -13 "" -1.582 -0.912 -1.247 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 26.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TYMP Mean sphered cell volume (30270) EFO_0004526 3.92e-12 3.92 -12 "" -0.199 -0.111 -0.155 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 1658.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RTEL1 Mean corpuscular haemoglobin (30050) EFO_0004527 8.71e-18 8.71 -18 "" 0.139 0.222 0.181 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1760.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 2.2300000000000002e-307 2.23 -307 "" -1.285 -1.197 -1.241 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 1618.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC22A2 Creatinine (30700) EFO_0004518 2.04e-28 2.04 -28 "" 0.217 0.311 0.264 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 998.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC34A1 Creatinine (30700) EFO_0004518 1.44e-15 1.44 -15 "" 0.104 0.171 0.138 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 1928.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MEPE Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 3.4599999999999998e-34 3.46 -34 "" -0.375 -0.271 -0.323 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 1108.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLT3 Monocyte percentage (30190) EFO_0007989 2.34e-16 2.34 -16 "" 0.164 0.267 0.215 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 1180.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CD36 Platelet distribution width (30110) EFO_0007984 1.99e-27 1.99 -27 "" 0.134 0.193 0.164 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 3610.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C79: Secondary malignant neoplasm of other and unspecified sites EFO_0009812 9.92e-20 9.92 -20 2.874 oddsRatioConfidenceIntervalLower 3.609 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079629 387728 5376 106.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 1.4099999999999999e-24 1.41 -24 "" -1.248 -0.847 -1.047 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8544 8544 83.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHEK2 Type of Cancer: Malignant neoplasm of breast (40006) EFO_0003869 2.45e-12 2.45 -12 1.704 oddsRatioConfidenceIntervalLower 1.977 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079108 41005 12472 349.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CAD Mean reticulocyte volume (30260) EFO_0010701 7.91e-25 7.91 -25 "" 0.893 1.313 1.103 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 73.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" ANK1 Reticulocyte percentage (30240) EFO_0010700 1.42e-12 1.42 -12 "" 0.435 0.768 0.602 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 123.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - ezetimibe EFO_0007010 1.99e-52 1.99 -52 8.561 oddsRatioConfidenceIntervalLower 11.284 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078226 320758 2675 96.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC ICD10 Z93.2: Ileostomy status EFO_0002571 1.35e-18 1.35 -18 58.351 oddsRatioConfidenceIntervalLower 144.323 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081413 387887 1429 13.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" GHRH Standing height (50) EFO_0004339 2.19e-20 2.19 -20 "" -0.535 -0.348 -0.441 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 146.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A1 Direct bilirubin (30660) EFO_0004570 2.96e-19 2.96 -19 "" 0.468 0.729 0.598 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 187.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A7 Direct bilirubin (30660) EFO_0004570 1.91e-38 1.91 -38 "" 0.337 0.458 0.398 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 887.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A1 ICD10 E80: Disorders of porphyrin and bilirubin metabolism Orphanet_309824 8.52e-13 8.52 -13 9.933 oddsRatioConfidenceIntervalLower 18.635 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079769 387166 614 18.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 4.19e-44 4.19 -44 9.387 oddsRatioConfidenceIntervalLower 12.864 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 81.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL6A1 Corneal resistance factor left (5265) EFO_0010067 4.09e-14 4.09 -14 "" -1.764 -1.037 -1.401 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079340 105697 105697 26.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APOB HDL cholesterol (30760) EFO_0004612 5.87e-22 5.87 -22 "" 0.249 0.376 0.312 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 640.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PLA2G12A HDL cholesterol (30760) EFO_0004612 3.2300000000000003e-47 3.23 -47 "" -0.156 -0.119 -0.137 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 7488.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TP53 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 1.14e-11 1.14 -11 4.494 oddsRatioConfidenceIntervalLower 6.935 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 34.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" NR1H4 SHBG (30830) EFO_0004696 2.7599999999999998e-89 2.76 -89 "" -0.246 -0.202 -0.224 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 5493.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" DGKD Calcium (30680) EFO_0004838 3.1e-16 3.1 -16 "" -0.817 -0.501 -0.659 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 140.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF1R Impedance of leg right (23107) HP_0000924 2.93e-12 2.93 -12 "" 0.309 0.551 0.43 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 185.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" LDLR LDL direct (30780) EFO_0004611 1.91e-40 1.91 -40 "" 0.551 0.742 0.647 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 383.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ADAMTS17 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 2.46e-15 2.46 -15 "" -0.333 -0.201 -0.267 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 125.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Sitting height (20015) EFO_0011011 1.11e-28 1.11 -28 "" 0.151 0.215 0.183 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1622.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.75e-114 1.75 -114 "" 1.941 2.307 2.124 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 98.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" KLF1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 6.29e-14 6.29 -14 "" -0.575 -0.337 -0.456 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 250.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" STAB2 IGF 1 (30770) EFO_0004627 2.7e-13 2.7 -13 "" -0.136 -0.079 -0.108 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 3734.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 High light scatter reticulocyte count (30300) EFO_0007986 2.37e-20 2.37 -20 "" 0.161 0.248 0.205 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1754.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Haematocrit percentage (30030) EFO_0004348 1.48e-13 1.48 -13 "" -1.653 -0.96 -1.307 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 19.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GP1BA Platelet count (30080) EFO_0004309 2.17e-28 2.17 -28 "" -1.202 -0.84 -1.021 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 89.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PIEZO1 Sitting height (20015) EFO_0011011 1.78e-21 1.78 -21 "" -0.11 -0.073 -0.092 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 4765.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ORMDL3 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.33e-12 1.33 -12 "" 0.218 0.385 0.302 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 471.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB Apolipoprotein B (30640) EFO_0004615 2.02e-64 2.02 -64 "" -2.007 -1.591 -1.799 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 75.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" ADH1B Apolipoprotein A (30630) EFO_0004732 8.89e-12 8.89 -12 "" 0.074 0.134 0.104 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 3055.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SCUBE3 Whole body fat free mass (23101) EFO_0004995 4.48e-14 4.48 -14 "" -0.119 -0.07 -0.094 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 2062.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 Non cancer illness code self reported - other neurological problem EFO_0000618 5.4199999999999996e-30 5.42 -30 10.042 oddsRatioConfidenceIntervalLower 14.943 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077842 331754 1794 47.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Arm predicted mass left (23126) EFO_0004302 1.54e-12 1.54 -12 "" 0.208 0.368 0.288 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 197.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CXCR4 Monocyte count (30130) EFO_0005091 4.2e-15 4.2 -15 "" 0.284 0.474 0.379 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 345.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBQ1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 1.74e-18 1.74 -18 "" -0.734 -0.466 -0.6 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 233.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" JAK2 IGF 1 (30770) EFO_0004627 1.19e-17 1.19 -17 "" -0.801 -0.503 -0.652 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 137.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SPSB3 Leg fat free mass right (23113) EFO_0004995 3.36e-19 3.36 -19 "" -0.079 -0.051 -0.065 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 6512.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Impedance of leg right (23107) HP_0000924 2.46e-17 2.46 -17 "" 0.083 0.133 0.108 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 4408.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" G6PD Glycated haemoglobin HbA1c (30750) EFO_0004541 2.23e-31 2.23 -31 "" -1.073 -0.764 -0.919 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2117 2117 82.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PPARG Apolipoprotein A (30630) EFO_0004732 1.12e-12 1.12 -12 "" -0.678 -0.385 -0.531 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 128.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IQGAP2 High light scatter reticulocyte count (30300) EFO_0007986 7.3e-15 7.3 -15 "" 0.083 0.139 0.111 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 4242.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Arm fat free mass right (23121) EFO_0004995 4.2900000000000005e-27 4.29 -27 "" -0.14 -0.097 -0.118 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 2642.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GHRH Standing height (50) EFO_0004339 2.19e-20 2.19 -20 "" -0.535 -0.348 -0.441 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 146.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 4.45e-15 4.45 -15 "" -2.58 -1.548 -2.064 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" E2F4 Mean corpuscular haemoglobin (30050) EFO_0004527 1.9e-21 1.9 -21 "" 1.361 2.068 1.714 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 24.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHD2 ICD10 C91: Lymphoid leukemia EFO_0004289 8.7e-17 8.7 -17 70.944 oddsRatioConfidenceIntervalLower 193.584 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 11.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TET2 Neutrophil count (30140) EFO_0004833 1.44e-18 1.44 -18 "" -0.24 -0.152 -0.196 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 1791.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ALPL Phosphate (30810) EFO_0010968 3.3499999999999995e-61 3.35 -61 "" 0.734 0.932 0.833 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 345.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ITGB3 Platelet count (30080) EFO_0004309 2.52e-19 2.52 -19 "" -0.262 -0.168 -0.215 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1329.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TPM4 Mean platelet thrombocyte volume (30100) EFO_0004584 1.43e-12 1.43 -12 "" 0.674 1.19 0.932 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 41.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GCK ICD10 E11.9: Type 2 diabetes mellitus without complications MONDO_0005148 4.43e-17 4.43 -17 18.706 oddsRatioConfidenceIntervalLower 37.046 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079741 385838 26590 24.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANGPTL4 Triglycerides (30870) EFO_0004530 1.5999999999999999e-24 1.6 -24 "" -0.448 -0.304 -0.376 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 600.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTA1 High light scatter reticulocyte count (30300) EFO_0007986 5.36e-31 5.36 -31 "" 0.469 0.66 0.564 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 365.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IQGAP2 Total protein (30860) EFO_0004536 2.11e-14 2.11 -14 "" -0.098 -0.058 -0.078 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 8714.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I42: Cardiomyopathy EFO_0000318 1.61e-48 1.61 -48 5.313 oddsRatioConfidenceIntervalLower 6.645 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 128.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKLR Reticulocyte count (30250) EFO_0007986 7.83e-16 7.83 -16 "" 0.188 0.309 0.249 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 916.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A8 Total bilirubin (30840) EFO_0004570 1.43e-12 1.43 -12 "" 0.327 0.577 0.452 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 210.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Leg predicted mass right (23114) EFO_0004302 2.96e-17 2.96 -17 "" -0.092 -0.057 -0.075 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 4404.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOB Triglycerides (30870) EFO_0004530 2.4899999999999997e-54 2.49 -54 "" -0.49 -0.38 -0.435 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 1036.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 2.07e-14 2.07 -14 1.528 oddsRatioConfidenceIntervalLower 1.703 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 396.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ENG ICD10 I78: Diseases of capillaries EFO_0004264 3.02e-15 3.02 -15 130.613 oddsRatioConfidenceIntervalLower 438.133 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 8.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" FSCN2 hearing loss (RGC) EFO_0004238 5.25e-13 5.25 -13 1.209 oddsRatioConfidenceIntervalLower 1.273 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 2584.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Immature reticulocyte fraction (30280) EFO_0010700 3.87e-16 3.87 -16 "" 0.601 0.982 0.792 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 96.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GHRH Standing height (50) EFO_0004339 5.72e-13 5.72 -13 "" -0.506 -0.29 -0.398 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 109.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 8.03e-20 8.03 -20 10.366 oddsRatioConfidenceIntervalLower 17.141 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 30.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" WNT1 Heel bone mineral density BMD (3148) EFO_0009270 3.58e-14 3.58 -14 "" -0.549 -0.323 -0.436 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 235.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS6 Standing height (50) EFO_0004339 2.2e-23 2.2 -23 "" -0.086 -0.058 -0.072 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 6508.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TUBB1 Platelet crit (30090) EFO_0007985 1.3399999999999999e-45 1.34 -45 "" -0.72 -0.545 -0.633 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 382.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Arm fat free mass right (23121) EFO_0004995 2.4e-13 2.4 -13 "" 0.24 0.416 0.328 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 157.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Arm predicted mass left (23126) EFO_0004302 1.01e-34 1.01 -34 "" 0.108 0.149 0.129 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 3011.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" KLHDC7B Hearing difficulty problems background noise - Yes (2257) EFO_0007616 2.97e-18 2.97 -18 1.658 oddsRatioConfidenceIntervalLower 1.857 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078878 422872 167296 644.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCG5 ICD10 K80: Cholelithiasis EFO_0004799 1.36e-20 1.36 -20 0.388 oddsRatioConfidenceIntervalLower 0.473 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080297 385441 17665 71.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 High light scatter reticulocyte percentage (30290) EFO_0010700 2.0900000000000002e-21 2.09 -21 "" 0.183 0.278 0.23 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1495.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LDLR CAD Loose CC (RGC) EFO_0001645 5.01e-12 5.01 -12 3.226 oddsRatioConfidenceIntervalLower 4.498 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081465 387011 33971 61.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN ICD10 I50.0: Congestive heart failure (I50.0) EFO_0000373 8.83e-17 8.83 -17 2.553 oddsRatioConfidenceIntervalLower 3.183 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080020 387930 3182 110.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" THBS4 Impedance of arm left (23110) HP_0000924 5.59e-17 5.59 -17 "" -0.085 -0.053 -0.069 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 6441.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Impedance of leg right (23107) HP_0000924 6.69e-12 6.69 -12 "" 0.054 0.098 0.076 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 5849.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASXL1 Pack years of smoking (20161) EFO_0005671 7.96e-17 7.96 -17 "" 0.243 0.392 0.318 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078325 134156 134156 627.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Comparative body size at age 10 - Plumper (1687) EFO_0009819 3.18e-61 3.18 -61 3.367 oddsRatioConfidenceIntervalLower 3.889 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077589 423612 68629 359.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 5.88e-12 5.88 -12 "" -2.301 -1.281 -1.791 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" JAK2 IGF 1 (30770) EFO_0004627 3.5e-17 3.5 -17 "" -0.759 -0.473 -0.616 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 149.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANKRD12 Education score England (26414) EFO_0011015 2.01e-13 2.01 -13 "" 0.317 0.547 0.432 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078953 369491 369491 273.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LRP2 Cystatin C (30720) EFO_0004617 3.72e-16 3.72 -16 "" -0.372 -0.228 -0.3 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 501.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A7 Direct bilirubin (30660) EFO_0004570 8.06e-27 8.06 -27 "" 0.224 0.324 0.274 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1276.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CXCL6 Lymphocyte percentage (30180) EFO_0007993 5.01e-13 5.01 -13 "" 0.062 0.109 0.086 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 6207.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOC3 Apolipoprotein A (30630) EFO_0004732 6.44e-13 6.44 -13 "" 0.568 0.993 0.78 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 61.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RNF20 Mean corpuscular volume (30040) EFO_0004526 8.3e-13 8.3 -13 "" -0.524 -0.299 -0.411 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 235.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SF3B1 Type of Cancer: Lymphoid leukemia (40006) EFO_0004289 7.84e-13 7.84 -13 15.308 oddsRatioConfidenceIntervalLower 32.292 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079125 74230 699 15.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN ICD10 I50.9: Heart failure, unspecified EFO_0003144 1.41e-14 1.41 -14 2.985 oddsRatioConfidenceIntervalLower 3.943 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080022 387930 2407 71.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN ICD10 Z92.1: Personal history of long-term (current) use of anticoagulants (Z92.1) EFO_0000352 4.19e-14 4.19 -14 1.95 oddsRatioConfidenceIntervalLower 2.319 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081404 387930 15024 173.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Impedance of whole body (23106) HP_0000924 3.51e-24 3.51 -24 "" -0.246 -0.166 -0.206 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 2.54e-78 2.54 -78 3.182 oddsRatioConfidenceIntervalLower 3.592 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 510.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHEK2 Platelet crit (30090) EFO_0007985 1.43e-17 1.43 -17 "" 0.134 0.214 0.174 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 1835.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" POLE Mean sphered cell volume (30270) EFO_0004526 8.66e-15 8.66 -15 "" 0.202 0.338 0.27 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 682.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 Ankle spacing width left (4100) EFO_0004324 4.6e-14 4.6 -14 "" 0.365 0.621 0.493 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079148 166283 166283 151.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Leg fat mass right (23112) EFO_0005409 3.83e-25 3.83 -25 "" 0.181 0.265 0.223 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078915 423659 423659 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" JAK2 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 4.19e-149 4.19 -149 27.539 oddsRatioConfidenceIntervalLower 35.357 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 144.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Arm predicted mass left (23126) EFO_0004302 2.77e-22 2.77 -22 "" 0.128 0.193 0.16 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CALR Platelet count (30080) EFO_0004309 2.46e-84 2.46 -84 "" 1.811 2.217 2.014 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 71.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC12A7 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.79e-24 6.79 -24 "" -0.186 -0.126 -0.156 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3620.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CXCL2 Neutrophil percentage (30200) EFO_0007990 2.43e-14 2.43 -14 "" -0.899 -0.531 -0.715 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 102.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 High light scatter reticulocyte count (30300) EFO_0007986 4.02e-20 4.02 -20 "" 0.16 0.246 0.203 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1767.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCB11 Alkaline phosphatase (30610) EFO_0004533 1.06e-23 1.06 -23 "" 0.475 0.706 0.591 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 224.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RRBP1 Cholesterol (30690) EFO_0004574 4.29e-12 4.29 -12 "" -0.562 -0.314 -0.438 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 210.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC22A12 Urate (30880) EFO_0004531 1.57e-16 1.57 -16 "" -1.28 -0.789 -1.034 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2106 2106 38.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCB11 Gamma glutamyltransferase (30730) EFO_0004532 7.21e-13 7.21 -13 "" -0.181 -0.104 -0.142 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1885.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ALB Albumin (30600) EFO_0004535 5.07e-171 5.07 -171 "" -2.426 -2.107 -2.266 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 134.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SRSF2 ICD10 A41: Other sepsis HP_0100806 6.56e-16 6.56 -16 8.388 oddsRatioConfidenceIntervalLower 14.053 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079546 387463 5918 28.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PIEZO1 Standing height (50) EFO_0004339 9.39e-28 9.39 -28 "" -0.081 -0.056 -0.069 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 8573.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SVEP1 Mean platelet thrombocyte volume (30100) EFO_0004584 7.21e-14 7.21 -14 "" -0.45 -0.263 -0.356 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 312.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Haemoglobin concentration (30020) EFO_0004509 5.62e-65 5.62 -65 "" -1.636 -1.298 -1.467 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RHAG Reticulocyte count (30250) EFO_0007986 4.44e-47 4.44 -47 "" 0.545 0.717 0.631 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 451.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 Illnesses of siblings - Breast cancer (20111) EFO_0009640 4.5900000000000006e-37 4.59 -37 3.427 oddsRatioConfidenceIntervalLower 4.144 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 168.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Seated height (51) EFO_0011011 5.01e-22 5.01 -22 "" -1.253 -0.83 -1.042 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 44.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" MYO6 hearing loss (RGC) EFO_0004238 6.75e-13 6.75 -13 3.112 oddsRatioConfidenceIntervalLower 4.242 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 106.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD2 ICD10 Q61: Cystic kidney disease EFO_0008615 1.95e-69 1.95 -69 380.586 oddsRatioConfidenceIntervalLower 737.228 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 34.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GMPR Haemoglobin concentration (30020) EFO_0004509 8.32e-14 8.32 -14 "" 0.067 0.115 0.091 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 3789.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHEK2 Ever used hormone replacement therapy HRT - Yes (2814) EFO_0003961 1.53e-11 1.53 -11 0.671 oddsRatioConfidenceIntervalLower 0.753 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078962 233003 92655 488.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LRRC75B Gamma glutamyltransferase (30730) EFO_0004532 4.16e-34 4.16 -34 "" 0.119 0.165 0.142 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 5589.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLCN Non cancer illness code self reported - spontaneous pneumothorax recurrent pneumothorax HP_0002108 1.87e-11 1.87 -11 5.163 oddsRatioConfidenceIntervalLower 8.335 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077685 331754 1058 27.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GP1BB Platelet count (30080) EFO_0004309 2.85e-44 2.85 -44 "" -1.92 -1.447 -1.683 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 52.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Weight (21002) EFO_0004338 2.96e-14 2.96 -14 "" 0.193 0.327 0.26 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 567.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC12A9 Hair colour natural before greying - Blonde (1747) EFO_0007822 1.8899999999999997e-23 1.89 -23 2.768 oddsRatioConfidenceIntervalLower 3.381 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 172.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean corpuscular volume (30040) EFO_0004526 4.71e-17 4.71 -17 "" -2.76 -1.715 -2.237 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TNFRSF13B Monocyte count (30130) EFO_0005091 6.87e-73 6.87 -73 "" -0.213 -0.171 -0.192 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 7135.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LY75 Platelet crit (30090) EFO_0007985 2.3800000000000002e-32 2.38 -32 "" 0.152 0.213 0.183 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 3335.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Arm fat percentage right (23119) EFO_0007800 7.4e-12 7.4 -12 "" 0.248 0.446 0.347 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078922 423608 423608 197.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Trunk predicted mass (23130) EFO_0004324 2.98e-16 2.98 -16 "" 0.218 0.356 0.287 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 257.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KLHDC7B hearing loss (RGC) EFO_0004238 8.729999999999999e-28 8.73 -28 2.156 oddsRatioConfidenceIntervalLower 2.474 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 451.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PCSK9 Apolipoprotein B (30640) EFO_0004615 5.3400000000000005e-185 5.34 -185 "" -0.833 -0.728 -0.78 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 1171.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ALPL Alkaline phosphatase (30610) EFO_0004533 2.22e-150 2.22 -150 "" -2.46 -2.117 -2.289 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 102.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TET2 Reticulocyte percentage (30240) EFO_0010700 1.13e-12 1.13 -12 "" 0.183 0.323 0.253 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 700.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" SLC12A9 Hair colour natural before greying - Dark brown (1747) EFO_0007822 1.01e-13 1.01 -13 0.528 oddsRatioConfidenceIntervalLower 0.625 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 205.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SCARB1 Apolipoprotein A (30630) EFO_0004732 3.37e-16 3.37 -16 "" 0.211 0.344 0.278 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 618.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" COL4A4 Microalbumin in urine (30500) EFO_0010967 6.91e-12 6.91 -12 "" 0.415 0.747 0.581 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 134.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APC Non cancer illness code self reported - rectal or colon adenoma polyps EFO_1000633 1.17e-15 1.17 -15 39.389 oddsRatioConfidenceIntervalLower 96.798 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077867 331754 1530 12.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KDM5B Hand grip strength right (47) EFO_0006941 2.45e-15 2.45 -15 "" -0.414 -0.25 -0.332 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 256.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANKRD12 Townsend deprivation index at recruitment (189) EFO_0009711 3.55e-14 3.55 -14 "" 0.305 0.518 0.412 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077617 430494 430494 318.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB Cholesterol (30690) EFO_0004574 2.2300000000000002e-307 2.23 -307 "" -1.505 -1.368 -1.436 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 700.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LCORL Leg predicted mass left (23118) EFO_0004302 2.44e-12 2.44 -12 "" 0.235 0.418 0.327 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 157.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PDE3B High light scatter reticulocyte percentage (30290) EFO_0010700 1.59e-13 1.59 -13 "" -0.195 -0.113 -0.154 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 2011.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 Mean corpuscular haemoglobin (30050) EFO_0004527 9.17e-12 9.17 -12 "" 0.685 1.237 0.961 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 39.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ABCB4 Alanine aminotransferase (30620) EFO_0004735 1.07e-18 1.07 -18 "" 0.157 0.247 0.202 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 1541.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IQGAP2 Total protein (30860) EFO_0004536 3.37e-12 3.37 -12 "" -0.235 -0.132 -0.183 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 1290.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A4 ICD10 E80: Disorders of porphyrin and bilirubin metabolism Orphanet_309824 6.55e-12 6.55 -12 11.605 oddsRatioConfidenceIntervalLower 23.363 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079769 387166 614 15.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" THBS4 6mm strong meridian right (5133) EFO_0004731 5.44e-17 5.44 -17 "" -0.338 -0.21 -0.274 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079299 90887 90887 755.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Arm fat percentage left (23123) EFO_0007800 1.21e-21 1.21 -21 "" 0.155 0.235 0.195 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078926 423545 423545 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC45A2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 1.8e-27 1.8 -27 2.488 oddsRatioConfidenceIntervalLower 2.932 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 271.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CALR Reticulocyte percentage (30240) EFO_0010700 7.25e-12 7.25 -12 "" 0.555 0.999 0.777 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 69.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Standing height (50) EFO_0004339 1.53e-15 1.53 -15 "" 0.376 0.62 0.498 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 86.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" TET2 ICD10 D70: Neutropenia MONDO_0001475 6.8e-19 6.8 -19 3.517 oddsRatioConfidenceIntervalLower 4.643 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079716 387075 4407 75.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Sitting height (20015) EFO_0011011 6.550000000000001e-21 6.55 -21 "" -0.113 -0.074 -0.094 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 4492.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MYD88 Lymphocyte percentage (30180) EFO_0007993 1.6e-36 1.6 -36 "" 0.847 1.158 1.003 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 137.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" COL4A4 ICD10 R31: Hematuria HP_0000790 1.59e-13 1.59 -13 5.15 oddsRatioConfidenceIntervalLower 7.96 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080842 383009 19710 36.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MLH1 Type of Cancer: Malignant neoplasm of colon (40006) EFO_1001950 4.97e-15 4.97 -15 23.721 oddsRatioConfidenceIntervalLower 52.414 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079082 74230 3309 17.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FLG AtopicDermatitis (RGC) EFO_0000274 2.26e-22 2.26 -22 1.765 oddsRatioConfidenceIntervalLower 1.98 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081462 276670 15131 388.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RASA3 Lymphocyte count (30120) EFO_0004587 3.9e-21 3.9 -21 "" -0.255 -0.168 -0.212 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 1744.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SRSF2 Platelet crit (30090) EFO_0007985 3.69e-13 3.69 -13 "" -0.598 -0.344 -0.471 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 182.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MPO Neutrophil percentage (30200) EFO_0007990 1.19e-11 1.19 -11 "" 0.055 0.099 0.077 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 7086.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZNF12 IGF 1 (30770) EFO_0004627 7.58e-14 7.58 -14 "" 0.443 0.757 0.6 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 125.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MLH1 ICD10 Z08.0: Follow-up examination after surgery for malignant neoplasm (Z08.0) EFO_0004542 5.110000000000001e-21 5.11 -21 8.679 oddsRatioConfidenceIntervalLower 13.615 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081197 387930 4711 36.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Mean reticulocyte volume (30260) EFO_0010701 9.289999999999999e-42 9.29 -42 "" -1.599 -1.194 -1.396 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9692 9692 99.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LRP2 Cystatin C (30720) EFO_0004617 2.8e-13 2.8 -13 "" -0.721 -0.416 -0.568 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 112.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" BRCA1 Illnesses of siblings - Breast cancer (20111) EFO_0009640 1.48e-15 1.48 -15 4.874 oddsRatioConfidenceIntervalLower 7.192 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 44.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" KLF1 Red blood cell erythrocyte count (30010) EFO_0004305 4.21e-13 4.21 -13 "" 0.222 0.387 0.304 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 348.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Reticulocyte percentage (30240) EFO_0010700 2.4e-25 2.4 -25 "" 0.189 0.277 0.233 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1767.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Impedance of leg right (23107) HP_0000924 4.68e-13 4.68 -13 "" -0.548 -0.315 -0.431 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 197.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Impedance of leg right (23107) HP_0000924 6.69e-12 6.69 -12 "" 0.054 0.098 0.076 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 5849.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MFRP MeanSphericalEquivalent started wearing glasses contacts before 40 (RGC) EFO_0004731 1.89e-15 1.89 -15 "" 0.341 0.564 0.452 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081498 48482 48482 271.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLNB Standing height (50) EFO_0004339 2.21e-13 2.21 -13 "" -0.056 -0.032 -0.044 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 9501.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 Ever had hysterectomy womb removed - Yes (3591) EFO_0003881 1.19e-12 1.19 -12 3.42 oddsRatioConfidenceIntervalLower 4.8 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079065 207093 18107 58.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FAM65C Platelet distribution width (30110) EFO_0007984 9.68e-14 9.68 -14 "" -0.151 -0.088 -0.12 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 3213.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LIPC Cholesterol (30690) EFO_0004574 3.38e-15 3.38 -15 "" 0.09 0.149 0.119 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 3665.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EGLN1 Haemoglobin concentration (30020) EFO_0004509 3.33e-17 3.33 -17 "" 0.56 0.899 0.73 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 75.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" OCA2 ICD10 Z85.8: Personal history of malignant neoplasms of other organs and systems EFO_0000616 9.79e-13 9.79 -13 1.582 oddsRatioConfidenceIntervalLower 1.795 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081353 387903 7665 294.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Neutrophil count (30140) EFO_0004833 5.84e-17 5.84 -17 "" -0.25 -0.155 -0.203 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 1515.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TET2 ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 2.23e-20 2.23 -20 4.664 oddsRatioConfidenceIntervalLower 6.463 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 58.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OCA2 Hair colour natural before greying - Blonde (1747) EFO_0007822 2.3799999999999998e-45 2.38 -45 7.065 oddsRatioConfidenceIntervalLower 9.266 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 123.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SRSF2 Reticulocyte count (30250) EFO_0007986 1.95e-31 1.95 -31 "" 0.683 0.958 0.82 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 175.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL4A4 ICD10 R31: Hematuria HP_0000790 1.59e-13 1.59 -13 5.15 oddsRatioConfidenceIntervalLower 7.96 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080842 383009 19710 36.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Leg fat free mass left (23117) EFO_0004995 1.74e-31 1.74 -31 "" 0.165 0.232 0.198 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NPR2 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 1.27e-11 1.27 -11 "" -0.556 -0.307 -0.431 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 35.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PCSK9 Cholesterol (30690) EFO_0004574 2.64e-25 2.64 -25 "" -0.781 -0.533 -0.657 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8543 8543 226.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SRSF2 Platelet count (30080) EFO_0004309 4.43e-18 4.43 -18 "" -0.687 -0.434 -0.56 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 182.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Whole body water mass (23102) EFO_0009805 1.07e-15 1.07 -15 "" 0.273 0.45 0.362 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 157.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GHRH IGF 1 (30770) EFO_0004627 1.52e-20 1.52 -20 "" -0.845 -0.551 -0.698 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 141.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACVRL1 ICD10 I78: Diseases of capillaries EFO_0004264 7.09e-22 7.09 -22 75.3 oddsRatioConfidenceIntervalLower 181.749 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 14.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Impedance of leg right (23107) HP_0000924 3.3899999999999996e-24 3.39 -24 "" -0.293 -0.198 -0.245 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MEPE Heel bone mineral density BMD T score automated (78) EFO_0009270 3.4599999999999998e-34 3.46 -34 "" -0.375 -0.271 -0.323 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 1108.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CUBN Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 1.98e-37 1.98 -37 "" 0.206 0.28 0.243 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 2593.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.75e-114 1.75 -114 "" 1.941 2.307 2.124 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 98.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LPA Lipoprotein A (30790) EFO_0006925 4.06e-16 4.06 -16 "" -0.459 -0.281 -0.37 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079034 329317 329317 483.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CXCR2 White blood cell leukocyte count (30000) EFO_0004308 1.99e-17 1.99 -17 "" -0.538 -0.336 -0.437 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 335.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CASR Calcium (30680) EFO_0004838 2.02e-62 2.02 -62 "" 0.758 0.959 0.858 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 347.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" FLG ICD10 L30: Other and unspecified dermatitis EFO_0000701 3.76e-13 3.76 -13 1.426 oddsRatioConfidenceIntervalLower 1.57 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080346 367319 11384 503.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCA1 Cholesterol (30690) EFO_0004574 1.48e-18 1.48 -18 "" -0.636 -0.404 -0.52 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 240.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" WNT1 Non cancer illness code self reported - osteoporosis EFO_0003882 8.19e-12 8.19 -12 5.247 oddsRatioConfidenceIntervalLower 8.44 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077779 331754 7730 30.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 ICD10 D69.6: Thrombocytopenia, unspecified HP_0001873 1.25e-11 1.25 -11 4.263 oddsRatioConfidenceIntervalLower 6.486 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079714 387579 1788 34.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 DD Cancer - Yes (2453) EFO_0000311 3.58e-15 3.58 -15 1.319 oddsRatioConfidenceIntervalLower 1.414 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 1007.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FAM65C Platelet distribution width (30110) EFO_0007984 2.92e-14 2.92 -14 "" -0.304 -0.179 -0.242 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 814.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MSH2 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 3.56e-12 3.56 -12 29.079 oddsRatioConfidenceIntervalLower 75.179 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 11.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" HSPA9 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.5e-68 2.5 -68 "" 0.943 1.181 1.062 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 232.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC1R Skin colour - Light olive (1717) EFO_0003784 1.38e-20 1.38 -20 0.25 oddsRatioConfidenceIntervalLower 0.335 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 43.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C78: Secondary malignant neoplasm of respiratory and digestive organs EFO_0009812 1.92e-12 1.92 -12 1.87 oddsRatioConfidenceIntervalLower 2.225 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079625 387835 6526 161.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Haematocrit percentage (30030) EFO_0004348 2.71e-55 2.71 -55 "" -1.374 -1.068 -1.221 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 98.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RHAG High light scatter reticulocyte percentage (30290) EFO_0010700 2.7000000000000002e-27 2.7 -27 "" 0.392 0.565 0.479 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 450.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NPR2 Standing height (50) EFO_0004339 9.03e-29 9.03 -29 "" -0.794 -0.556 -0.675 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 91.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APOA5 Platelet distribution width (30110) EFO_0007984 1.03e-15 1.03 -15 "" 0.264 0.435 0.35 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 421.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Non cancer illness code self reported - atrial fibrillation/ICD10 I48 EFO_0000275 3.12e-15 3.12 -15 2.351 oddsRatioConfidenceIntervalLower 2.908 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077882 329052 3763 116.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IL17RA Monocyte count (30130) EFO_0005091 1.21e-13 1.21 -13 "" -0.736 -0.429 -0.582 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 129.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GMPR Reticulocyte count (30250) EFO_0007986 2.75e-30 2.75 -30 "" 0.222 0.313 0.267 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1583.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK Non cancer illness code self reported - type 2 diabetes MONDO_0005148 6.57e-14 6.57 -14 7.953 oddsRatioConfidenceIntervalLower 13.676 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077724 331754 3497 24.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACSF3 Hair colour natural before greying - Red (1747) EFO_0007822 1.33e-73 1.33 -73 2.12 oddsRatioConfidenceIntervalLower 2.3 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 808.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS3 Impedance of arm right (23109) HP_0000924 1.35e-15 1.35 -15 "" -0.171 -0.104 -0.137 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 1455.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Haematocrit percentage (30030) EFO_0004348 2.71e-55 2.71 -55 "" -1.374 -1.068 -1.221 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 98.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" G6PC2 Glycated haemoglobin HbA1c (30750) EFO_0004541 9.089999999999999e-23 9.09 -23 "" -0.191 -0.128 -0.16 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 2924.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TYRP1 Hair colour natural before greying - Dark brown (1747) EFO_0007822 1.35e-16 1.35 -16 0.362 oddsRatioConfidenceIntervalLower 0.46 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 82.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R Arm fat free mass left (23125) EFO_0004995 1.27e-17 1.27 -17 "" -0.192 -0.12 -0.156 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 995.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Impedance of arm left (23110) HP_0000924 2.5e-13 2.5 -13 "" -0.176 -0.102 -0.139 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C78: Secondary malignant neoplasm of respiratory and digestive organs EFO_0009812 9.09e-12 9.09 -12 4.274 oddsRatioConfidenceIntervalLower 6.489 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079625 387835 6526 35.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RNF10 High light scatter reticulocyte percentage (30290) EFO_0010700 5.51e-16 5.51 -16 "" 0.741 1.214 0.977 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 60.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SERPINH1 Standing height (50) EFO_0004339 2.72e-15 2.72 -15 "" -0.241 -0.145 -0.193 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 558.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANGPTL4 HDL cholesterol (30760) EFO_0004612 1.27e-21 1.27 -21 "" 0.185 0.28 0.232 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1143.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ALPL Alkaline phosphatase (30610) EFO_0004533 1.13e-12 1.13 -12 "" -2.376 -1.349 -1.862 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8544 8544 14.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RUNX1 Platelet count (30080) EFO_0004309 1.11e-13 1.11 -13 "" -1.598 -0.931 -1.265 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 26.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 9.24e-12 9.24 -12 "" 1.418 2.563 1.99 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 10.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" PKD1 Treatment or Medication Code - doxazosin EFO_0007010 1.22e-12 1.22 -12 7.583 oddsRatioConfidenceIntervalLower 13.263 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078093 320758 5111 23.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" DNMT3A Platelet crit (30090) EFO_0007985 2.71e-13 2.71 -13 "" 0.066 0.115 0.09 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 5081.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MEPE Speed of sound through heel left (4103) EFO_0005654 1.19e-23 1.19 -23 "" -0.42 -0.283 -0.352 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079150 166283 166283 651.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 ICD10 C92: Myeloid leukemia EFO_0002427 3.1500000000000004e-21 3.15 -21 11.048 oddsRatioConfidenceIntervalLower 18.175 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 30.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MYD88 Lymphocyte count (30120) EFO_0004587 5.73e-37 5.73 -37 "" 0.86 1.174 1.017 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 137.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ABCB4 Alanine aminotransferase (30620) EFO_0004735 2.38e-12 2.38 -12 "" 0.242 0.43 0.336 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 352.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHTF18 Mean corpuscular volume (30040) EFO_0004526 4.33e-17 4.33 -17 "" 0.184 0.295 0.24 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 959.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CAD Mean sphered cell volume (30270) EFO_0004526 5.43e-24 5.43 -24 "" 0.42 0.622 0.521 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 311.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" MROH2A Total bilirubin (30840) EFO_0004570 9.33e-13 9.33 -13 "" -0.147 -0.084 -0.116 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 3279.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Basal metabolic rate (23105) EFO_0007777 2.64e-18 2.64 -18 "" -0.096 -0.061 -0.079 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 4404.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OR10R2 Mean reticulocyte volume (30260) EFO_0010701 6.12e-12 6.12 -12 "" 0.086 0.155 0.12 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 2792.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 1.31e-17 1.31 -17 19.755 oddsRatioConfidenceIntervalLower 39.168 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 18.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" EIF2AK1 High light scatter reticulocyte percentage (30290) EFO_0010700 2.01e-11 2.01 -11 "" 0.307 0.56 0.434 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 209.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TSHR ICD10 E03: Other hypothyroidism EFO_0004705 8.37e-25 8.37 -25 2.45 oddsRatioConfidenceIntervalLower 2.906 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079722 383065 21010 198.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET1 Standing height (50) EFO_0004339 2.26e-12 2.26 -12 "" 0.371 0.658 0.515 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 62.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOA5 HDL cholesterol (30760) EFO_0004612 2.0900000000000002e-22 2.09 -22 "" -0.355 -0.236 -0.296 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 734.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R Leg predicted mass right (23114) EFO_0004302 3.52e-14 3.52 -14 "" -0.144 -0.085 -0.114 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 1485.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC4A1 Reticulocyte percentage (30240) EFO_0010700 2.64e-27 2.64 -27 "" 0.928 1.339 1.134 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 81.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" WNT1 Speed of sound through heel (3146) EFO_0005654 4.74e-14 4.74 -14 "" -0.552 -0.324 -0.438 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 236.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Forced expiratory volume in 1 second FEV1 (3063) EFO_0004314 9.33e-13 9.33 -13 "" -0.128 -0.073 -0.1 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079017 395451 395451 2481.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GCK ICD10 E11.9: Type 2 diabetes mellitus without complications MONDO_0005148 1.96e-24 1.96 -24 24.365 oddsRatioConfidenceIntervalLower 45.001 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079741 385838 26590 32.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IRS1 Leg predicted mass left (23118) EFO_0004302 1.2e-16 1.2 -16 "" -0.507 -0.313 -0.41 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 140.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TMPRSS6 Red blood cell erythrocyte distribution width (30070) EFO_0009188 8.03e-41 8.03 -41 "" 0.556 0.746 0.651 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 361.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOA1 HDL cholesterol (30760) EFO_0004612 5.44e-15 5.44 -15 "" -1.547 -0.927 -1.237 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 27.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Arm fat mass left (23124) EFO_0005409 5.91e-26 5.91 -26 "" 0.226 0.33 0.278 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078927 423512 423512 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RRBP1 LDL direct (30780) EFO_0004611 2.04e-16 2.04 -16 "" -0.611 -0.376 -0.493 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 239.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RNF10 High light scatter reticulocyte percentage (30290) EFO_0010700 2.34e-12 2.34 -12 "" 0.512 0.91 0.711 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 85.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PFKM Glycated haemoglobin HbA1c (30750) EFO_0004541 2.2299999999999997e-42 2.23 -42 "" -0.351 -0.263 -0.307 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 1515.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Weight (23098) EFO_0004338 3.3900000000000004e-37 3.39 -37 "" 0.108 0.147 0.127 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 6712.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Weight (21002) EFO_0004338 7.97e-37 7.97 -37 "" 0.106 0.145 0.126 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 6811.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KLF1 Haemoglobin concentration (30020) EFO_0004509 1.39e-14 1.39 -14 "" -0.387 -0.23 -0.309 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 348.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 Total bilirubin (30840) EFO_0004570 2.2e-14 2.2 -14 "" 0.493 0.834 0.664 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 82.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MSH6 Type of Cancer: Malignant neoplasm of endometrium (40006) MONDO_0011962 9.92e-30 9.92 -30 21.42 oddsRatioConfidenceIntervalLower 36.403 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079109 41005 1536 37.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD2 ICD10 Q61: Cystic kidney disease EFO_0008615 1.95e-69 1.95 -69 380.586 oddsRatioConfidenceIntervalLower 737.228 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 34.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Standing height (50) EFO_0004339 3.57e-29 3.57 -29 "" 0.33 0.47 0.4 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 263.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GNB1 Lymphocyte percentage (30180) EFO_0007993 9.77e-14 9.77 -14 "" -0.503 -0.293 -0.398 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 304.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IL33 Eosinophil percentage (30210) EFO_0007991 9.22e-83 9.22 -83 "" -0.282 -0.23 -0.256 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 4992.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" POLE Mean corpuscular volume (30040) EFO_0004526 6.000000000000001e-28 6.0 -28 "" 0.11 0.159 0.135 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 5209.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I50.9: Heart failure, unspecified EFO_0003144 4.03e-13 4.03 -13 5.753 oddsRatioConfidenceIntervalLower 9.23 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080022 387930 2407 29.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" APC ICD10 Z83: Family history of other specific disorders EFO_0000493 4.36e-15 4.36 -15 18.592 oddsRatioConfidenceIntervalLower 38.592 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081343 376753 4125 16.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FCGRT Albumin (30600) EFO_0004535 2.67e-35 2.67 -35 "" -2.198 -1.598 -1.898 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 38.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PDE3B Leg fat free mass left (23117) EFO_0004995 1.62e-11 1.62 -11 "" 0.081 0.148 0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 1200.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" STC2 Arm fat free mass right (23121) EFO_0004995 2.8e-18 2.8 -18 "" 0.076 0.121 0.098 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 2488.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK Metformin Med (RGC) EFO_0007010 1.04e-13 1.04 -13 5.031 oddsRatioConfidenceIntervalLower 7.702 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081499 320758 12065 37.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLCO1B1 Direct bilirubin (30660) EFO_0004570 5.79e-12 5.79 -12 "" 0.14 0.251 0.195 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 839.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 Self Report - breast cancer (20001) EFO_0000305 8.150000000000001e-27 8.15 -27 6.063 oddsRatioConfidenceIntervalLower 8.429 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077626 39614 10070 141.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOC3 Platelet distribution width (30110) EFO_0007984 3.49e-20 3.49 -20 "" -0.213 -0.138 -0.176 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 2204.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL4A3 Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 2.62e-22 2.62 -22 "" 0.207 0.312 0.26 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 1296.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SF3B1 Mean corpuscular volume (30040) EFO_0004526 1.39e-20 1.39 -20 "" 0.326 0.501 0.413 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 394.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ATM ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 3.11e-13 3.11 -13 1.519 oddsRatioConfidenceIntervalLower 1.699 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 398.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NPR2 Standing height (50) EFO_0004339 5.76e-40 5.76 -40 "" -0.443 -0.329 -0.386 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 394.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IHH Standing height (50) EFO_0004339 1.52e-12 1.52 -12 "" -1.755 -0.993 -1.374 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 9.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" PCSK9 Cholesterol (30690) EFO_0004574 3.9200000000000003e-31 3.92 -31 "" -0.72 -0.512 -0.616 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8543 8543 320.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TECTA Hearing difficulty problems background noise - Yes (2257) EFO_0007616 5.73e-12 5.73 -12 1.288 oddsRatioConfidenceIntervalLower 1.384 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078878 422872 167296 1441.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CALR Red blood cell erythrocyte distribution width (30070) EFO_0009188 4.63e-18 4.63 -18 "" 0.735 1.165 0.95 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 71.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FLG AllergicDiseaseCases vs AllergicDiseaseControls (RGC) MONDO_0005271 8.5e-23 8.5 -23 1.256 oddsRatioConfidenceIntervalLower 1.314 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081451 354024 73382 2766.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANGPTL8 Triglycerides (30870) EFO_0004530 1.8500000000000002e-29 1.85 -29 "" -0.489 -0.344 -0.417 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 587.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 ICD10 C92: Myeloid leukemia EFO_0002427 5.84e-21 5.84 -21 6.931 oddsRatioConfidenceIntervalLower 10.38 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 41.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 9.74e-18 9.74 -18 2.283 oddsRatioConfidenceIntervalLower 2.757 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 161.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LCORL Standing height (50) EFO_0004339 9.58e-29 9.58 -29 "" 0.359 0.512 0.435 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 219.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GFI1B Platelet distribution width (30110) EFO_0007984 7.76e-14 7.76 -14 "" 0.154 0.263 0.209 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1027.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PDE3B Weight (21002) EFO_0004338 6.07e-14 6.07 -14 "" 0.099 0.169 0.134 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 2093.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Body mass index BMI (21001) EFO_0004340 3.51e-16 3.51 -16 "" 0.404 0.659 0.532 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078684 429633 429633 202.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 White blood cell leukocyte count (30000) EFO_0004308 3.95e-18 3.95 -18 "" -0.238 -0.15 -0.194 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 1779.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APEH Haematocrit percentage (30030) EFO_0004348 3.28e-14 3.28 -14 "" -0.236 -0.139 -0.188 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 975.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLG Vitamin D (30890) EFO_0004631 4.92e-15 4.92 -15 "" 0.095 0.158 0.126 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 3485.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CHEK2 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 8.25e-12 8.25 -12 2.897 oddsRatioConfidenceIntervalLower 3.93 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 58.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Leg fat free mass left (23117) EFO_0004995 4.59e-15 4.59 -15 "" -0.088 -0.053 -0.07 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 4403.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RASAL3 Lymphocyte count (30120) EFO_0004587 2.97e-12 2.97 -12 "" -0.118 -0.066 -0.092 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 5082.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Standing height (50) EFO_0004339 5.49e-64 5.49 -64 "" -1.647 -1.305 -1.476 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 44.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" ADAMTS3 Standing height (50) EFO_0004339 6.33e-16 6.33 -16 "" -0.151 -0.092 -0.122 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1479.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 ICD10 D70: Neutropenia MONDO_0001475 4.42e-19 4.42 -19 3.546 oddsRatioConfidenceIntervalLower 4.683 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079716 387075 4407 75.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SVEP1 Mean platelet thrombocyte volume (30100) EFO_0004584 1.04e-12 1.04 -12 "" -0.192 -0.109 -0.151 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1586.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" DPP9 SHBG (30830) EFO_0004696 4.93e-13 4.93 -13 "" 0.139 0.242 0.19 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 982.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS17 Impedance of whole body (23106) HP_0000924 4.03e-18 4.03 -18 "" -0.151 -0.096 -0.123 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 2462.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BTN2A2 High light scatter reticulocyte percentage (30290) EFO_0010700 4.16e-12 4.16 -12 "" -0.093 -0.052 -0.072 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 8175.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B High light scatter reticulocyte percentage (30290) EFO_0010700 1.59e-13 1.59 -13 "" -0.195 -0.113 -0.154 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 2011.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MLH1 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.07e-14 1.07 -14 23.55 oddsRatioConfidenceIntervalLower 52.461 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 18.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" TTN Arm fat free mass right (23121) EFO_0004995 5.14e-20 5.14 -20 "" -0.082 -0.053 -0.068 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 5844.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 Mothers age at death (3526) EFO_0007796 1.05e-18 1.05 -18 "" -0.134 -0.085 -0.11 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 5938.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 C50: Malignant neoplasm of breast EFO_0003869 4.73e-14 4.73 -14 6.138 oddsRatioConfidenceIntervalLower 9.838 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 33.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" UGT1A4 Total bilirubin (30840) EFO_0004570 1.67e-58 1.67 -58 "" 0.444 0.566 0.505 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 875.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANGPTL3 Triglycerides (30870) EFO_0004530 4.15e-137 4.15 -137 "" -0.596 -0.509 -0.552 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 1648.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC26A5 hearing loss (RGC) EFO_0004238 2.9e-17 2.9 -17 2.029 oddsRatioConfidenceIntervalLower 2.391 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 307.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" DNMT3A Platelet count (30080) EFO_0004309 1.22e-11 1.22 -11 "" 0.059 0.108 0.084 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 5082.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MSH6 ICD10 C54.1: Malignant neoplasm of endometrium MONDO_0011962 1.82e-27 1.82 -27 20.227 oddsRatioConfidenceIntervalLower 34.806 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079607 228786 1469 30.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ATM DD Cancer - Yes (2453) EFO_0000311 4.94e-16 4.94 -16 1.961 oddsRatioConfidenceIntervalLower 2.308 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 206.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 Self Report - breast cancer (20001) EFO_0000305 7.61e-15 7.61 -15 4.104 oddsRatioConfidenceIntervalLower 5.859 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077626 39614 10070 104.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Arm predicted mass left (23126) EFO_0004302 2.8100000000000003e-21 2.81 -21 "" -0.099 -0.065 -0.082 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 4403.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ALB Total protein (30860) EFO_0004536 7.27e-14 7.27 -14 "" -1.058 -0.619 -0.839 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 71.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RPS6KB2 Mean reticulocyte volume (30260) EFO_0010701 6.64e-12 6.64 -12 "" -0.107 -0.059 -0.083 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 5728.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CGNL1 Cystatin C (30720) EFO_0004617 6.51e-18 6.51 -18 "" 0.342 0.543 0.443 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 256.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RNF186 Creatinine (30700) EFO_0004518 8.49e-12 8.49 -12 "" 0.087 0.157 0.122 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 1798.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 4.01e-30 4.01 -30 "" -1.156 -0.817 -0.986 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 19.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" LDLR Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 2.54e-78 2.54 -78 3.182 oddsRatioConfidenceIntervalLower 3.592 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 510.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PIEZO1 Standing height (50) EFO_0004339 1.61e-16 1.61 -16 "" -0.151 -0.093 -0.122 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1518.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A1 Direct bilirubin (30660) EFO_0004570 4.58e-43 4.58 -43 "" 0.324 0.432 0.378 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1103.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MSH2 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 1.1e-15 1.1 -15 26.098 oddsRatioConfidenceIntervalLower 57.945 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 16.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" SLC45A2 Hair colour natural before greying - Blonde (1747) EFO_0007822 5.26e-63 5.26 -63 4.601 oddsRatioConfidenceIntervalLower 5.501 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 254.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MLH1 ICD10 Z08: Encounter for follow-up examination after completed treatment for malignant neoplasm EFO_0004542 1.4e-16 1.4 -16 16.767 oddsRatioConfidenceIntervalLower 32.722 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081200 387917 6079 19.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" SH2B3 Haemoglobin concentration (30020) EFO_0004509 9.710000000000001e-27 9.71 -27 "" 0.108 0.156 0.132 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 3695.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 1.4200000000000002e-252 1.42 -252 "" -1.409 -1.255 -1.332 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 526.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ITGA2B Mean platelet thrombocyte volume (30100) EFO_0004584 1.02e-14 1.02 -14 "" 0.278 0.467 0.373 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 308.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ABCC2 Direct bilirubin (30660) EFO_0004570 3.39e-21 3.39 -21 "" 0.065 0.1 0.083 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 8833.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTB Mean sphered cell volume (30270) EFO_0004526 1.76e-14 1.76 -14 "" -0.254 -0.15 -0.202 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 1186.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APOB Apolipoprotein A (30630) EFO_0004732 4.55e-13 4.55 -13 "" 0.178 0.31 0.244 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 632.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 Illnesses of mother - None of the above group 2 (20110) EFO_0000493 3.87e-24 3.87 -24 0.578 oddsRatioConfidenceIntervalLower 0.642 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078283 423686 308506 929.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TSHR Non cancer illness code self reported - hypothyroidism myxoedema EFO_1001055 1.93e-16 1.93 -16 2.366 oddsRatioConfidenceIntervalLower 2.905 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 140.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF1R Leg predicted mass right (23114) EFO_0004302 1.68e-16 1.68 -16 "" -0.702 -0.433 -0.567 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 71.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BSN High light scatter reticulocyte percentage (30290) EFO_0010700 4.81e-12 4.81 -12 "" -0.06 -0.033 -0.046 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 20338.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" THBS4 corneal power (RGC) EFO_0004731 1.3e-20 1.3 -20 "" -0.339 -0.221 -0.28 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081537 103531 103531 889.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ABCC2 Direct bilirubin (30660) EFO_0004570 2.5399999999999997e-23 2.54 -23 "" 0.085 0.127 0.106 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 5858.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Arm predicted mass right (23122) EFO_0004302 6.12e-17 6.12 -17 "" -0.868 -0.538 -0.703 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 44.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" LIPC Apolipoprotein A (30630) EFO_0004732 2.88e-66 2.88 -66 "" 0.301 0.378 0.34 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1867.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADCK3 Mean corpuscular haemoglobin (30050) EFO_0004527 9.07e-16 9.07 -16 "" -0.196 -0.119 -0.158 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 2036.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PFKM Haemoglobin concentration (30020) EFO_0004509 6.99e-17 6.99 -17 "" 0.122 0.197 0.159 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1539.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN ICD10 I48: Atrial fibrillation and flutter EFO_0000275 3.95e-25 3.95 -25 1.771 oddsRatioConfidenceIntervalLower 1.974 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080015 386856 20107 452.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHTF18 Mean reticulocyte volume (30260) EFO_0010701 3.99e-12 3.99 -12 "" 0.176 0.314 0.245 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 673.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MLH1 ICD10 C18: Malignant neoplasm of colon EFO_1001950 1.99e-16 1.99 -16 106.237 oddsRatioConfidenceIntervalLower 323.049 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079581 387657 3899 10.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" ZFAT Leg fat free mass left (23117) EFO_0004995 8.44e-27 8.44 -27 "" 0.094 0.136 0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 3011.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Arm fat free mass right (23121) EFO_0004995 6.84e-28 6.84 -28 "" 0.214 0.308 0.261 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 554.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Whole body water mass (23102) EFO_0009805 5.8e-17 5.8 -17 "" -0.077 -0.048 -0.063 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 5845.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK T2D (RGC) MONDO_0005148 6.810000000000001e-47 6.81 -47 14.076 oddsRatioConfidenceIntervalLower 20.184 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 79.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" EPB41 High light scatter reticulocyte count (30300) EFO_0007986 7.76e-12 7.76 -12 "" 0.422 0.761 0.591 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 116.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ACAN Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 4.52e-35 4.52 -35 "" -1.102 -0.8 -0.951 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 24.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ACAN Arm predicted mass right (23122) EFO_0004302 8.410000000000001e-21 8.41 -21 "" -0.795 -0.52 -0.657 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 63.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MEN1 ICD10 E21.0: Primary hyperparathyroidism EFO_0008519 3.63e-13 3.63 -13 667.517 oddsRatioConfidenceIntervalLower 3855.23 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079751 387930 643 5.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" TTN Pulse rate automated reading (102) EFO_0004326 5.37e-34 5.37 -34 "" 0.131 0.182 0.157 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 5669.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGFALS Trunk predicted mass (23130) EFO_0004324 8.26e-15 8.26 -15 "" -0.124 -0.074 -0.099 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 1957.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 4.0600000000000004e-32 4.06 -32 3.738 oddsRatioConfidenceIntervalLower 4.654 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 141.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN ICD10 I42.0: Dilated cardiomyopathy EFO_0000407 1.49e-54 1.49 -54 9.989 oddsRatioConfidenceIntervalLower 13.35 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079998 387930 858 88.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANGPTL4 Triglycerides (30870) EFO_0004530 1.5999999999999999e-24 1.6 -24 "" -0.448 -0.304 -0.376 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 600.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYRP1 Ease of skin tanning - Get very tanned (1727) EFO_0007009 6.18e-31 6.18 -31 0.496 oddsRatioConfidenceIntervalLower 0.558 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 286.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - ezetimibe EFO_0007010 9.819999999999999e-54 9.82 -54 9.957 oddsRatioConfidenceIntervalLower 13.332 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078226 320758 2675 89.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FAM234A Glucose (30740) EFO_0004468 1.99e-12 1.99 -12 "" -0.175 -0.099 -0.137 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 2439.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CALR ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 4.3799999999999995e-61 4.38 -61 387.89 oddsRatioConfidenceIntervalLower 787.79 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 31.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LRP5 Speed of sound through heel (3146) EFO_0005654 1.68e-13 1.68 -13 "" -0.762 -0.442 -0.602 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 120.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 N18: Chronic kidney disease (CKD) EFO_0003884 3.9900000000000004e-47 3.99 -47 30.814 oddsRatioConfidenceIntervalLower 49.106 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080584 382843 10144 49.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" FLCN Non cancer illness code self reported - spontaneous pneumothorax recurrent pneumothorax/ICD10 J93 HP_0002108 1.04e-13 1.04 -13 18.701 oddsRatioConfidenceIntervalLower 40.47 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077686 329051 839 14.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APEH Red blood cell erythrocyte count (30010) EFO_0004305 2.3e-12 2.3 -12 "" -0.225 -0.127 -0.176 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 975.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RHAG High light scatter reticulocyte count (30300) EFO_0007986 1.25e-15 1.25 -15 "" 0.154 0.254 0.204 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1330.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OCA2 Ease of skin tanning - Get very tanned (1727) EFO_0007009 3.8e-197 3.8 -197 0.414 oddsRatioConfidenceIntervalLower 0.439 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 1126.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACSF3 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 1.88e-25 1.88 -25 1.329 oddsRatioConfidenceIntervalLower 1.403 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 1968.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTA1 Reticulocyte percentage (30240) EFO_0010700 2.9700000000000002e-58 2.97 -58 "" 0.7 0.894 0.797 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 365.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS17 Impedance of leg right (23107) HP_0000924 1.57e-13 1.57 -13 "" -0.123 -0.072 -0.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 4065.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RIOK3 Immature reticulocyte fraction (30280) EFO_0010700 3.3e-22 3.3 -22 "" 0.097 0.145 0.121 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 5835.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Arm fat free mass right (23121) EFO_0004995 1.39e-19 1.39 -19 "" -0.777 -0.501 -0.639 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 63.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LCORL Trunk predicted mass (23130) EFO_0004324 2.98e-16 2.98 -16 "" 0.218 0.356 0.287 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 257.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PAPPA2 Leg predicted mass left (23118) EFO_0004302 1.72e-11 1.72 -11 "" -0.114 -0.062 -0.088 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 2008.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 3.91e-14 3.91 -14 9.805 oddsRatioConfidenceIntervalLower 17.715 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 26.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" TP53 DD Cancer - Yes (2453) EFO_0000311 5.47e-12 5.47 -12 2.383 oddsRatioConfidenceIntervalLower 3.05 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 96.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHEK2 Platelet distribution width (30110) EFO_0007984 1.08e-11 1.08 -11 "" 0.082 0.149 0.116 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 2755.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KLF1 Mean corpuscular haemoglobin (30050) EFO_0004527 6.55e-27 6.55 -27 "" -0.8 -0.553 -0.677 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 197.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" STC2 Whole body water mass (23102) EFO_0009805 6.7e-24 6.7 -24 "" 0.092 0.137 0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 2489.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 7.840000000000001e-29 7.84 -29 4.201 oddsRatioConfidenceIntervalLower 5.408 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 101.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TERT Mean corpuscular volume (30040) EFO_0004526 1.38e-21 1.38 -21 "" 0.43 0.652 0.541 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 241.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" AMPD3 Reticulocyte count (30250) EFO_0007986 1.15e-17 1.15 -17 "" -0.091 -0.057 -0.074 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 11795.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RASA2 Lymphocyte percentage (30180) EFO_0007993 5.65e-16 5.65 -16 "" -0.367 -0.224 -0.296 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 649.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ACO1 Red blood cell erythrocyte count (30010) EFO_0004305 1.54e-16 1.54 -16 "" 0.109 0.178 0.144 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 2032.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SH2B3 High light scatter reticulocyte count (30300) EFO_0007986 1.3e-11 1.3 -11 "" 0.099 0.18 0.14 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 2024.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FERMT3 High light scatter reticulocyte percentage (30290) EFO_0010700 6.35e-13 6.35 -13 "" -0.09 -0.051 -0.07 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 9731.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Standing height (50) EFO_0004339 3.57e-29 3.57 -29 "" 0.33 0.47 0.4 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 263.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC45A2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 4.42e-79 4.42 -79 0.444 oddsRatioConfidenceIntervalLower 0.483 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 747.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TPM4 Mean platelet thrombocyte volume (30100) EFO_0004584 1.59e-14 1.59 -14 "" 1.136 1.915 1.526 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 18.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" LCORL Arm fat free mass left (23125) EFO_0004995 1.73e-13 1.73 -13 "" 0.194 0.335 0.264 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 257.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACO1 Haematocrit percentage (30030) EFO_0004348 2.3400000000000003e-21 2.34 -21 "" 0.129 0.196 0.163 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 2032.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LCORL Leg fat free mass left (23117) EFO_0004995 1.4e-12 1.4 -12 "" 0.241 0.425 0.333 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 157.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NRK Sitting height (20015) EFO_0011011 1.37e-11 1.37 -11 "" 0.21 0.382 0.296 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 148.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.89e-13 3.89 -13 "" -2.532 -1.456 -1.994 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 14.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Whole body fat free mass (23101) EFO_0004995 6.52e-17 6.52 -17 "" -0.077 -0.048 -0.062 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 5845.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOA5 HDL cholesterol (30760) EFO_0004612 8.160000000000001e-29 8.16 -29 "" -0.551 -0.386 -0.469 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 382.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 DD Cancer - Yes (2453) EFO_0000311 4.53e-13 4.53 -13 1.972 oddsRatioConfidenceIntervalLower 2.369 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 161.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SHBG SHBG (30830) EFO_0004696 2.11e-24 2.11 -24 "" -1.384 -0.938 -1.161 "" SAS HANCESTRO_0006 UK Biobank 450k "" 8933 8933 58.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EPB41 Reticulocyte percentage (30240) EFO_0010700 3.53e-22 3.53 -22 "" 0.546 0.824 0.685 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 179.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Direct bilirubin (30660) EFO_0004570 2.05e-12 2.05 -12 "" 0.455 0.808 0.632 "" SAS HANCESTRO_0006 UK Biobank 450k "" 8157 8157 95.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PIEZO1 Trunk fat free mass (23129) EFO_0004995 5.16e-13 5.16 -13 "" -0.057 -0.033 -0.045 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 8422.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR ICD10 E78.0: Pure hypercholesterolemia HP_0003124 3.25e-54 3.25 -54 2.721 oddsRatioConfidenceIntervalLower 3.089 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079766 378271 45730 423.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHEK2 Mean platelet thrombocyte volume (30100) EFO_0004584 2.94e-19 2.94 -19 "" 0.112 0.175 0.143 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 2756.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CYB561D2 Reticulocyte count (30250) EFO_0007986 9.58e-12 9.58 -12 "" 0.072 0.131 0.101 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 3894.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MIP Non cancer illness code self reported - cataract/ICD10 H26 MONDO_0005129 1.92e-13 1.92 -13 16.147 oddsRatioConfidenceIntervalLower 33.887 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077757 329052 7792 16.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Ankle spacing width (3143) EFO_0004324 9.45e-12 9.45 -12 "" 0.129 0.233 0.181 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 904.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LIPG HDL cholesterol (30760) EFO_0004612 1.38e-18 1.38 -18 "" 0.495 0.779 0.637 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 128.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LRP2 Cystatin C (30720) EFO_0004617 1.75e-34 1.75 -34 "" -0.168 -0.121 -0.144 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 4937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TSHR Treatment or Medication Code - levothyroxine sodium EFO_0007010 1.3800000000000001e-22 1.38 -22 2.432 oddsRatioConfidenceIntervalLower 2.906 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078224 320758 19017 182.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IQGAP2 High light scatter reticulocyte count (30300) EFO_0007986 5.98e-22 5.98 -22 "" 0.074 0.111 0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 9493.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Impedance of leg right (23107) HP_0000924 3.3899999999999996e-24 3.39 -24 "" -0.293 -0.198 -0.245 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC4A1 Direct bilirubin (30660) EFO_0004570 7.11e-16 7.11 -16 "" 0.278 0.456 0.367 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 319.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ASXL1 Platelet distribution width (30110) EFO_0007984 3.11e-18 3.11 -18 "" 0.268 0.423 0.346 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 523.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TUBB1 Mean platelet thrombocyte volume (30100) EFO_0004584 1.8199999999999997e-95 1.82 -95 "" 0.807 0.976 0.892 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 382.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IQGAP2 High light scatter reticulocyte percentage (30290) EFO_0010700 1.12e-19 1.12 -19 "" 0.069 0.107 0.088 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 9493.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GP1BB Platelet count (30080) EFO_0004309 5.5e-23 5.5 -23 "" -2.058 -1.376 -1.717 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 25.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CXCR2 Neutrophil percentage (30200) EFO_0007990 2.3e-12 2.3 -12 "" -0.464 -0.262 -0.363 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 335.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MYBPC3 ICD10 I42: Cardiomyopathy EFO_0000318 4.51e-25 4.51 -25 31.625 oddsRatioConfidenceIntervalLower 60.852 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 22.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GP1BA Mean platelet thrombocyte volume (30100) EFO_0004584 4.9400000000000005e-70 4.94 -70 "" 1.003 1.253 1.128 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 176.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SCARB1 Apolipoprotein A (30630) EFO_0004732 2.07e-66 2.07 -66 "" 0.285 0.359 0.322 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 2051.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOA5 Triglycerides (30870) EFO_0004530 2.53e-36 2.53 -36 "" 0.339 0.465 0.402 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 805.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IFRD2 High light scatter reticulocyte percentage (30290) EFO_0010700 1.4e-11 1.4 -11 "" 0.282 0.512 0.397 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 254.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 ICD10 Q61: Cystic kidney disease EFO_0008615 4.76e-123 4.76 -123 207.08 oddsRatioConfidenceIntervalLower 322.526 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 68.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Arm predicted mass left (23126) EFO_0004302 1.26e-22 1.26 -22 "" 0.146 0.22 0.183 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" DOCK5 Platelet distribution width (30110) EFO_0007984 3.97e-12 3.97 -12 "" -0.382 -0.214 -0.298 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 433.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Trunk fat mass (23128) EFO_0005409 1.16e-11 1.16 -11 "" 0.322 0.583 0.452 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078931 423433 423433 197.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR ICD10 I25: Chronic ischemic heart disease EFO_0003777 9.14e-13 9.14 -13 3.379 oddsRatioConfidenceIntervalLower 4.719 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079982 387110 32706 61.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Reticulocyte percentage (30240) EFO_0010700 1.44e-25 1.44 -25 "" 0.191 0.279 0.235 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1754.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" STAB1 Albumin (30600) EFO_0004535 3.07e-12 3.07 -12 "" 0.067 0.119 0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 5177.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Arm predicted mass left (23126) EFO_0004302 4.84e-14 4.84 -14 "" 0.199 0.339 0.269 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 257.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GP1BA Platelet count (30080) EFO_0004309 3.03e-47 3.03 -47 "" -0.476 -0.362 -0.419 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 902.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK ICD10 E11.9: Type 2 diabetes mellitus without complications MONDO_0005148 5.08e-14 5.08 -14 9.639 oddsRatioConfidenceIntervalLower 17.384 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079741 385838 26590 26.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" SHBG SHBG (30830) EFO_0004696 2.2300000000000002e-307 2.23 -307 "" -1.392 -1.272 -1.332 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 769.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SCUBE3 Arm predicted mass right (23122) EFO_0004302 5.65e-14 5.65 -14 "" -0.117 -0.069 -0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 2062.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I42: Cardiomyopathy EFO_0000318 4.57e-36 4.57 -36 12.514 oddsRatioConfidenceIntervalLower 18.575 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 50.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" HBB Reticulocyte count (30250) EFO_0007986 7.53e-13 7.53 -13 "" 0.498 0.872 0.685 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9692 9692 99.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADCY3 Comparative body size at age 10 - Plumper (1687) EFO_0009819 4.79e-13 4.79 -13 1.997 oddsRatioConfidenceIntervalLower 2.409 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077589 423612 68629 176.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" OBSCN Creatinine (30700) EFO_0004518 2.6e-13 2.6 -13 "" 0.056 0.097 0.076 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 5301.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" COL21A1 Systolic blood pressure automated reading (4080) EFO_0006335 5.25e-15 5.25 -15 "" 0.094 0.156 0.125 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079146 408211 408211 3158.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SERPINH1 Standing height (50) EFO_0004339 7.94e-18 7.94 -18 "" -0.723 -0.455 -0.589 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 71.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MSH6 Self Report - uterine endometrial cancer (20001) EFO_0002919 4.56e-13 4.56 -13 11.265 oddsRatioConfidenceIntervalLower 21.705 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077633 39614 1131 21.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OCA2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 6.55e-26 6.55 -26 0.196 oddsRatioConfidenceIntervalLower 0.266 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 36.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LY75 Platelet count (30080) EFO_0004309 9.08e-17 9.08 -17 "" 0.098 0.158 0.128 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 3340.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASXL1 Monocyte count (30130) EFO_0005091 2.69e-23 2.69 -23 "" 0.209 0.312 0.261 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 1165.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 I10: Essential (primary) hypertension MONDO_0001134 6.05e-12 6.05 -12 3.717 oddsRatioConfidenceIntervalLower 5.402 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079962 374207 105117 70.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" DGAT2 Apolipoprotein A (30630) EFO_0004732 3.65e-16 3.65 -16 "" -0.159 -0.097 -0.128 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 2916.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Comparative body size at age 10 - Thinner (1687) EFO_0009819 2.3e-20 2.3 -20 0.535 oddsRatioConfidenceIntervalLower 0.611 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077588 423612 141504 260.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 DD Cancer - Yes (2453) EFO_0000311 2.9e-13 2.9 -13 2.526 oddsRatioConfidenceIntervalLower 3.24 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 95.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MLH1 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 1.6100000000000002e-31 1.61 -31 61.841 oddsRatioConfidenceIntervalLower 123.555 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 25.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANKRD12 Education score England (26414) EFO_0011015 2.01e-13 2.01 -13 "" 0.317 0.547 0.432 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078953 369491 369491 273.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ALB Calcium (30680) EFO_0004838 1.5499999999999998e-40 1.55 -40 "" -1.259 -0.936 -1.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 134.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 Mothers age at death (3526) EFO_0007796 2.76e-19 2.76 -19 "" -0.36 -0.231 -0.295 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 846.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PTPRH Platelet count (30080) EFO_0004309 9.48e-18 9.48 -18 "" -0.231 -0.145 -0.188 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1583.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Leg predicted mass right (23114) EFO_0004302 2.9e-14 2.9 -14 "" 0.205 0.347 0.276 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 257.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MSH6 Type of Cancer: Malignant neoplasm of endometrium (40006) MONDO_0011962 5.33e-24 5.33 -24 6.86 oddsRatioConfidenceIntervalLower 9.968 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079109 41005 1536 54.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD1 ICD10 D63.165.8: Anemia in chronic kidney disease EFO_0004272 1.93e-13 1.93 -13 24.746 oddsRatioConfidenceIntervalLower 58.201 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079710 387885 936 12.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" WNT1 Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 4.26e-15 4.26 -15 "" -0.564 -0.338 -0.451 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 236.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C79: Secondary malignant neoplasm of other and unspecified sites EFO_0009812 4.3400000000000003e-26 4.34 -26 4.54 oddsRatioConfidenceIntervalLower 6.011 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079629 387728 5376 79.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYRP1 Skin colour - Very fair (1717) EFO_0003784 1.23e-18 1.23 -18 1.818 oddsRatioConfidenceIntervalLower 2.077 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 311.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC4A1 Total bilirubin (30840) EFO_0004570 2.2e-14 2.2 -14 "" 0.493 0.834 0.664 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 82.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SRSF2 Eosinophil percentage (30210) EFO_0007991 3.68e-12 3.68 -12 "" -0.616 -0.345 -0.481 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 182.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PTPN11 Arm fat free mass right (23121) EFO_0004995 1.08e-11 1.08 -11 "" -0.27 -0.149 -0.21 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 332.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" STC2 Sitting height (20015) EFO_0011011 3.24e-28 3.24 -28 "" 0.12 0.171 0.145 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 2532.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Reticulocyte count (30250) EFO_0007986 5.870000000000001e-26 5.87 -26 "" 0.814 1.186 1.0 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 96.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANGPTL8 Apolipoprotein A (30630) EFO_0004732 5.58e-13 5.58 -13 "" 0.193 0.337 0.265 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 530.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MLH1 ICD10 Z08.0: Follow-up examination after surgery for malignant neoplasm (Z08.0) EFO_0004542 1.37e-23 1.37 -23 55.544 oddsRatioConfidenceIntervalLower 121.958 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081197 387930 4711 18.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PIEZO1 ICD10 I83: Varicose veins of lower extremities HP_0002619 7.06e-14 7.06 -14 1.667 oddsRatioConfidenceIntervalLower 1.905 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080066 380908 15125 272.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 ICD10 C50: Malignant neoplasm of breast EFO_0003869 3.19e-28 3.19 -28 5.718 oddsRatioConfidenceIntervalLower 7.797 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 76.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SCUBE3 Arm fat free mass right (23121) EFO_0004995 4.84e-14 4.84 -14 "" -0.153 -0.09 -0.122 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 1216.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PALB2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 7.7e-14 7.7 -14 2.056 oddsRatioConfidenceIntervalLower 2.483 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 146.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Eosinophil percentage (30210) EFO_0007991 1.61e-50 1.61 -50 "" -0.375 -0.288 -0.332 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 1777.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" COL6A1 Corneal hysteresis right (5256) EFO_0010066 3.65e-12 3.65 -12 "" -1.625 -0.91 -1.267 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079335 105888 105888 27.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" EPB42 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.47e-11 1.47 -11 "" -0.258 -0.142 -0.2 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 867.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLCN Non cancer illness code self reported - spontaneous pneumothorax recurrent pneumothorax HP_0002108 3.9800000000000006e-21 3.98 -21 24.88 oddsRatioConfidenceIntervalLower 48.514 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077685 331754 1058 20.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CD36 Platelet count (30080) EFO_0004309 4.87e-12 4.87 -12 "" -0.13 -0.073 -0.101 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 3612.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MFRP 3mm weak meridian left (5096) EFO_0004731 1.81e-11 1.81 -11 "" 0.175 0.32 0.248 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 594.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RRBP1 Apolipoprotein B (30640) EFO_0004615 1.7100000000000003e-21 1.71 -21 "" -0.725 -0.477 -0.601 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 209.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GP1BB Platelet crit (30090) EFO_0007985 1.46e-15 1.46 -15 "" -1.202 -0.728 -0.965 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 52.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGFALS IGF 1 (30770) EFO_0004627 3.02e-16 3.02 -16 "" -1.124 -0.689 -0.906 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 65.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" STC2 Leg fat free mass right (23113) EFO_0004995 1.67e-18 1.67 -18 "" 0.08 0.126 0.103 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 2488.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.8000000000000002e-158 1.8 -158 "" 1.967 2.277 2.122 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 98.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CA1 Reticulocyte percentage (30240) EFO_0010700 5.68e-12 5.68 -12 "" 0.193 0.346 0.269 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 582.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LRP5 Heel bone mineral density BMD T score automated (78) EFO_0009270 9.82e-14 9.82 -14 "" -0.76 -0.443 -0.601 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 120.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FLG ICD10 L20: Atopic dermatitis EFO_0000274 1.57e-16 1.57 -16 2.006 oddsRatioConfidenceIntervalLower 2.367 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080337 378953 2972 179.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GFPT2 Standing height (50) EFO_0004339 6.14e-13 6.14 -13 "" -0.098 -0.056 -0.077 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2959.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 6.619999999999999e-23 6.62 -23 7.66 oddsRatioConfidenceIntervalLower 11.484 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 42.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 ICD10 C79: Secondary malignant neoplasm of other and unspecified sites EFO_0009812 3.97e-26 3.97 -26 4.913 oddsRatioConfidenceIntervalLower 6.599 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079629 387728 5376 73.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC12A9 Hair colour natural before greying - Blonde (1747) EFO_0007822 1.5e-14 1.5 -14 2.684 oddsRatioConfidenceIntervalLower 3.452 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 108.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGF1R Sitting height (20015) EFO_0011011 2.45e-20 2.45 -20 "" -0.543 -0.353 -0.448 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 187.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" ZFAT Arm fat free mass left (23125) EFO_0004995 1.5500000000000002e-26 1.55 -26 "" 0.213 0.308 0.261 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 554.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC45A2 Ease of skin tanning - Get mildly or occasionally tanned (1727) EFO_0007009 9.23e-12 9.23 -12 1.725 oddsRatioConfidenceIntervalLower 2.018 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077604 422570 93163 263.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LIPC Triglycerides (30870) EFO_0004530 1.59e-18 1.59 -18 "" 0.101 0.159 0.13 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 3667.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GFPT2 Standing height (50) EFO_0004339 6.14e-13 6.14 -13 "" -0.098 -0.056 -0.077 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2959.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MSH6 Self Report - uterine endometrial cancer (20001) EFO_0002919 1.5e-12 1.5 -12 9.05 oddsRatioConfidenceIntervalLower 16.66 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077633 39614 1131 23.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Arm predicted mass right (23122) EFO_0004302 2.8e-12 2.8 -12 "" 0.192 0.343 0.268 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 213.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGF1R Arm predicted mass right (23122) EFO_0004302 1.13e-12 1.13 -12 "" -0.132 -0.075 -0.103 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 1485.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 3.12e-28 3.12 -28 "" -1.884 -1.315 -1.599 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2108 2108 45.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SIX1 Hearing difficulty problems - Yes (2247) EFO_0007616 1.66e-11 1.66 -11 3.669 oddsRatioConfidenceIntervalLower 5.356 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 67.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CHD2 Lymphocyte percentage (30180) EFO_0007993 6.05e-12 6.05 -12 "" 0.517 0.929 0.723 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 78.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" FGD1 Impedance of arm left (23110) HP_0000924 4.98e-12 4.98 -12 "" -0.564 -0.315 -0.44 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 61.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" HBB Total bilirubin (30840) EFO_0004570 1.69e-13 1.69 -13 "" 0.416 0.718 0.567 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 105.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANGPTL7 3mm strong meridian right (5132) EFO_0004731 1.76e-12 1.76 -12 "" 0.107 0.19 0.148 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079298 103540 103540 1842.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR Non cancer illness code self reported - high cholesterol HP_0003124 2.33e-99 2.33 -99 3.504 oddsRatioConfidenceIntervalLower 3.936 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 601.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MFSD2B High light scatter reticulocyte count (30300) EFO_0007986 2.86e-24 2.86 -24 "" -0.157 -0.107 -0.132 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 5756.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTA1 High light scatter reticulocyte count (30300) EFO_0007986 5.36e-31 5.36 -31 "" 0.469 0.66 0.564 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 365.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A6 Direct bilirubin (30660) EFO_0004570 9.88e-12 9.88 -12 "" 0.283 0.511 0.397 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 245.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GP1BB Mean platelet thrombocyte volume (30100) EFO_0004584 1.67e-58 1.67 -58 "" 1.648 2.104 1.876 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 52.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NPR2 Comparative height size at age 10 - Shorter (1697) EFO_0004339 2.0200000000000003e-21 2.02 -21 1.846 oddsRatioConfidenceIntervalLower 2.095 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 413.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" KDM5B 3mm strong meridian right (5132) EFO_0004731 1.43e-11 1.43 -11 "" -1.031 -0.567 -0.799 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079298 103540 103540 58.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Leg predicted mass right (23114) EFO_0004302 5.62e-16 5.62 -16 "" -0.114 -0.07 -0.092 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 2643.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TNFRSF17 Total protein (30860) EFO_0004536 5.8e-12 5.8 -12 "" -0.393 -0.219 -0.306 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 454.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TFRC Mean corpuscular volume (30040) EFO_0004526 5.11e-50 5.11 -50 "" -1.594 -1.223 -1.408 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 87.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.11e-11 1.11 -11 "" 1.319 2.39 1.855 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR Apolipoprotein B (30640) EFO_0004615 1.96e-53 1.96 -53 "" 0.339 0.438 0.388 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 1421.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TMPRSS6 Red blood cell erythrocyte distribution width (30070) EFO_0009188 8.03e-41 8.03 -41 "" 0.556 0.746 0.651 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 361.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ALB Apolipoprotein B (30640) EFO_0004615 4.1e-25 4.1 -25 "" 0.633 0.929 0.781 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 146.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CUBN Microalbumin in urine (30500) EFO_0010967 3.0500000000000003e-27 3.05 -27 "" 0.168 0.243 0.205 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 2716.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHEK2 White blood cell leukocyte count (30000) EFO_0004308 6.72e-12 6.72 -12 "" 0.108 0.194 0.151 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 1835.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MROH2A Direct bilirubin (30660) EFO_0004570 1.45e-13 1.45 -13 "" -0.162 -0.094 -0.128 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 2799.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" DNMT3A Platelet crit (30090) EFO_0007985 4.77e-12 4.77 -12 "" 0.063 0.113 0.088 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 4778.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" THBS4 3mm strong meridian right (5132) EFO_0004731 2.09e-11 2.09 -11 "" -0.2 -0.11 -0.155 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079298 103540 103540 1531.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 N18.9: Chronic kidney disease, unspecified EFO_0003884 1.1500000000000001e-35 1.15 -35 39.911 oddsRatioConfidenceIntervalLower 71.259 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080583 387930 3916 31.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" TTN Impedance of leg right (23107) HP_0000924 6.69e-12 6.69 -12 "" 0.054 0.098 0.076 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 5849.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PAPPA Standing height (50) EFO_0004339 1.06e-12 1.06 -12 "" -0.136 -0.077 -0.107 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1503.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ATR Mean corpuscular haemoglobin (30050) EFO_0004527 1.41e-15 1.41 -15 "" -0.144 -0.087 -0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 3756.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL1A1 Sitting height (20015) EFO_0011011 1.56e-11 1.56 -11 "" -0.542 -0.298 -0.42 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 113.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" TFRC Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.69e-15 1.69 -15 "" 0.307 0.508 0.407 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 326.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CALR Platelet crit (30090) EFO_0007985 1.46e-13 1.46 -13 "" 0.187 0.322 0.254 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 647.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTA1 Reticulocyte count (30250) EFO_0007986 5.49e-50 5.49 -50 "" 0.631 0.823 0.727 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 365.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Impedance of arm left (23110) HP_0000924 2.5e-13 2.5 -13 "" -0.176 -0.102 -0.139 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPG7 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 5.65e-13 5.65 -13 1.178 oddsRatioConfidenceIntervalLower 1.232 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 2717.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ALPL Calcium (30680) EFO_0004838 1.43e-13 1.43 -13 "" 0.124 0.213 0.169 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 1752.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBQ1 Mean corpuscular volume (30040) EFO_0004526 1.2e-19 1.2 -19 "" -0.841 -0.542 -0.692 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 233.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I50.0: Congestive heart failure (I50.0) EFO_0000373 1.79e-20 1.79 -20 3.095 oddsRatioConfidenceIntervalLower 3.93 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080020 387930 3182 99.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC4A1 Reticulocyte count (30250) EFO_0007986 5.81e-25 5.81 -25 "" 0.864 1.269 1.066 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 81.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ENPP1 Phosphate (30810) EFO_0010968 1.8e-26 1.8 -26 "" -0.27 -0.186 -0.228 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 1925.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CEBPE Eosinophil percentage (30210) EFO_0007991 4.6e-15 4.6 -15 "" -0.11 -0.066 -0.088 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 6983.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TYR Skin colour - Light olive (1717) EFO_0003784 2.63e-24 2.63 -24 0.284 oddsRatioConfidenceIntervalLower 0.362 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 54.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CETP HDL cholesterol (30760) EFO_0004612 2.9600000000000002e-105 2.96 -105 "" 0.855 1.024 0.939 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 379.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MYO6 hearing loss (RGC) EFO_0004238 6.32e-15 6.32 -15 1.455 oddsRatioConfidenceIntervalLower 1.598 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 821.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Whole body fat free mass (23101) EFO_0004995 6.52e-17 6.52 -17 "" -0.077 -0.048 -0.062 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 5845.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PCSK9 Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 1.26e-14 1.26 -14 0.254 oddsRatioConfidenceIntervalLower 0.36 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 22.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TMPRSS6 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.77e-12 2.77 -12 "" -0.229 -0.129 -0.179 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 1412.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 1.08e-13 1.08 -13 2.228 oddsRatioConfidenceIntervalLower 2.752 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 121.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LPL Apolipoprotein A (30630) EFO_0004732 6.16e-12 6.16 -12 "" -0.657 -0.365 -0.511 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 130.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SHBG SHBG (30830) EFO_0004696 2.2300000000000002e-307 2.23 -307 "" -1.392 -1.272 -1.332 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 769.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EP400 Hand grip strength right (47) EFO_0006941 2.05e-13 2.05 -13 "" -0.636 -0.368 -0.502 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 96.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" SLC4A1 Reticulocyte percentage (30240) EFO_0010700 8.5e-27 8.5 -27 "" 1.651 2.389 2.02 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 25.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" RTEL1 Mean corpuscular haemoglobin (30050) EFO_0004527 4.31e-14 4.31 -14 "" 0.267 0.454 0.361 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 339.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 Urate (30880) EFO_0004531 5.53e-12 5.53 -12 "" 0.243 0.436 0.339 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 252.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ACAN Leg predicted mass right (23114) EFO_0004302 6.23e-15 6.23 -15 "" -0.853 -0.511 -0.682 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 44.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" LCORL Trunk predicted mass (23130) EFO_0004324 7.54e-17 7.54 -17 "" 0.306 0.493 0.399 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 138.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 9.71e-13 9.71 -13 33.813 oddsRatioConfidenceIntervalLower 88.951 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 10.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" SLC34A3 Creatinine (30700) EFO_0004518 1.1699999999999999e-34 1.17 -34 "" 0.161 0.222 0.191 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 2361.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ATP11C Glycated haemoglobin HbA1c (30750) EFO_0004541 1.83e-14 1.83 -14 "" -0.417 -0.247 -0.332 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 294.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SCUBE3 Arm predicted mass left (23126) EFO_0004302 7.9e-13 7.9 -13 "" -0.115 -0.066 -0.091 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 2062.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MYBPC3 ICD10 I42: Cardiomyopathy EFO_0000318 4.51e-25 4.51 -25 31.625 oddsRatioConfidenceIntervalLower 60.852 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 22.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FLG Age hay fever rhinitis or eczema diagnosed (3761) EFO_0004847 2.02e-12 2.02 -12 "" -0.289 -0.163 -0.226 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079072 88602 88602 880.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Platelet crit (30090) EFO_0007985 1.56e-11 1.56 -11 "" -0.322 -0.177 -0.249 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 557.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 5.49e-12 5.49 -12 4.106 oddsRatioConfidenceIntervalLower 6.135 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 37.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 High light scatter reticulocyte percentage (30290) EFO_0010700 1.73e-25 1.73 -25 "" 0.189 0.276 0.233 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1767.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLCO1B1 Direct bilirubin (30660) EFO_0004570 5.629999999999999e-45 5.63 -45 "" 0.231 0.306 0.269 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1859.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLFN14 Platelet distribution width (30110) EFO_0007984 1.84e-14 1.84 -14 "" -0.429 -0.254 -0.341 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 406.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Non cancer illness code self reported - atrial fibrillation/ICD10 I48 EFO_0000275 1.07e-19 1.07 -19 3.535 oddsRatioConfidenceIntervalLower 4.642 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077882 329052 3763 79.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BIN2 Mean platelet thrombocyte volume (30100) EFO_0004584 2.3e-16 2.3 -16 "" -0.364 -0.223 -0.293 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 590.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CALR Haemoglobin concentration (30020) EFO_0004509 2.6e-16 2.6 -16 "" -0.901 -0.553 -0.727 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 71.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 4.01e-30 4.01 -30 "" -1.156 -0.817 -0.986 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 19.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" MC1R Skin colour - Very fair (1717) EFO_0003784 5.290000000000001e-231 5.29 -231 3.28 oddsRatioConfidenceIntervalLower 3.524 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 1257.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" INSC Heel bone mineral density BMD right (4124) EFO_0009270 8.34e-15 8.34 -15 "" 0.072 0.121 0.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079158 166266 166266 5119.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PTPRH Platelet crit (30090) EFO_0007985 1.79e-39 1.79 -39 "" -0.216 -0.16 -0.188 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 3745.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 Lymphocyte percentage (30180) EFO_0007993 1.08e-13 1.08 -13 "" -0.75 -0.437 -0.593 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 136.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" HMCN1 FEV1 FVC ratio Z score (20258) EFO_0004713 4.239999999999999e-34 4.24 -34 "" 0.095 0.131 0.113 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 10826.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HMCN1 Forced vital capacity FVC (3062) EFO_0004312 1.78e-13 1.78 -13 "" 0.033 0.057 0.045 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 12496.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PIEZO1 Seated height (51) EFO_0011011 2.33e-13 2.33 -13 "" -0.22 -0.127 -0.174 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 911.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GCK DD DM - Yes (2443) EFO_0000400 9.46e-30 9.46 -30 5.13 oddsRatioConfidenceIntervalLower 6.807 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078949 429739 22058 89.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLG Atopy CC (RGC) EFO_0002686 6.21e-16 6.21 -16 1.244 oddsRatioConfidenceIntervalLower 1.312 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081463 359926 46691 1790.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SCUBE3 Basal metabolic rate (23105) EFO_0007777 5.18e-14 5.18 -14 "" -0.125 -0.073 -0.099 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 2062.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 Mean reticulocyte volume (30260) EFO_0010701 4.05e-12 4.05 -12 "" -0.24 -0.135 -0.187 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1149.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CREB3L3 Triglycerides (30870) EFO_0004530 4.9e-12 4.9 -12 "" 0.232 0.416 0.324 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 369.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACAN Trunk predicted mass (23130) EFO_0004324 2.14e-22 2.14 -22 "" -0.828 -0.551 -0.689 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 63.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Weight (23098) EFO_0004338 3.26e-30 3.26 -30 "" 0.222 0.314 0.268 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CLDN10 Urea (30670) EFO_0009795 2.03e-14 2.03 -14 "" 0.289 0.489 0.389 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 328.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PROS1 VTE Composite CC (RGC) EFO_0004286 4.56e-12 4.56 -12 22.872 oddsRatioConfidenceIntervalLower 55.508 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081534 225913 5702 13.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" NPR3 Comparative height size at age 10 - Taller (1697) EFO_0004339 2.2e-16 2.2 -16 2.014 oddsRatioConfidenceIntervalLower 2.381 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 268.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NPC1L1 LDL direct (30780) EFO_0004611 8.690000000000001e-21 8.69 -21 "" -0.171 -0.112 -0.142 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 3787.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 4.45e-15 4.45 -15 "" -2.58 -1.548 -2.064 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PDE3B Comparative height size at age 10 - Taller (1697) EFO_0004339 5.57e-15 5.57 -15 1.478 oddsRatioConfidenceIntervalLower 1.631 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 702.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MEGF6 FEV1 FVC ratio Z score (20258) EFO_0004713 2.34e-13 2.34 -13 "" 0.08 0.139 0.11 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 4077.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APC ICD10 D12: Benign neoplasm of colon, rectum, anus and anal canal EFO_0002422 1.01e-18 1.01 -18 14.526 oddsRatioConfidenceIntervalLower 26.302 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079662 387680 16948 26.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" TTN ICD10 I34.0: Nonrheumatic mitral (valve) insufficiency EFO_0009557 3.82e-13 3.82 -13 2.61 oddsRatioConfidenceIntervalLower 3.381 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079991 387332 2987 79.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ABCG5 Apolipoprotein B (30640) EFO_0004615 6.65e-14 6.65 -14 "" 0.079 0.135 0.107 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 4140.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Total bilirubin (30840) EFO_0004570 1.69e-13 1.69 -13 "" 0.416 0.718 0.567 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 105.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOB Apolipoprotein A (30630) EFO_0004732 4.55e-13 4.55 -13 "" 0.178 0.31 0.244 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 632.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Arm fat free mass left (23125) EFO_0004995 1.07e-16 1.07 -16 "" -0.078 -0.048 -0.063 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 5843.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 Illnesses of siblings - Breast cancer (20111) EFO_0009640 1.44e-17 1.44 -17 2.646 oddsRatioConfidenceIntervalLower 3.309 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 112.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MSH2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.08e-11 1.08 -11 4.951 oddsRatioConfidenceIntervalLower 7.855 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 34.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MAP3K15 Glycated haemoglobin HbA1c (30750) EFO_0004541 7.77e-30 7.77 -30 "" -0.1 -0.07 -0.085 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 7551.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS17 Forced vital capacity FVC Best measure (20151) EFO_0004312 1.57e-16 1.57 -16 "" -0.154 -0.095 -0.125 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078317 322002 322002 1921.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" KLF1 Mean corpuscular haemoglobin (30050) EFO_0004527 5.57e-16 5.57 -16 "" -1.462 -0.892 -1.177 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 37.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TYR Skin colour - Very fair (1717) EFO_0003784 4.52e-22 4.52 -22 1.481 oddsRatioConfidenceIntervalLower 1.604 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 819.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MOB3C Mean platelet thrombocyte volume (30100) EFO_0004584 8.67e-19 8.67 -19 "" -0.315 -0.201 -0.258 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 862.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Basal metabolic rate (23105) EFO_0007777 1.96e-15 1.96 -15 "" 0.253 0.418 0.336 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 197.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR MI (RGC) EFO_0000612 1.85e-13 1.85 -13 2.104 oddsRatioConfidenceIntervalLower 2.565 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081495 422491 17896 140.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PAM Illnesses of father - Diabetes (20107) EFO_0000493 4.02e-12 4.02 -12 1.251 oddsRatioConfidenceIntervalLower 1.332 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078263 419598 36789 1183.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 9.800000000000001e-27 9.8 -27 10.72 oddsRatioConfidenceIntervalLower 16.551 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 40.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Seated height (51) EFO_0011011 6e-17 6.0 -17 "" 0.385 0.621 0.503 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 142.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SRSF2 Immature reticulocyte fraction (30280) EFO_0010700 1.57e-16 1.57 -16 "" 0.453 0.735 0.594 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 175.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 7.85e-23 7.85 -23 7.624 oddsRatioConfidenceIntervalLower 11.428 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 42.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LCORL Ankle spacing width left (4100) EFO_0004324 5.54e-12 5.54 -12 "" 0.481 0.863 0.672 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079148 166283 166283 68.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 6mm strong meridian right (5133) EFO_0004731 4.81e-18 4.81 -18 "" 0.318 0.504 0.411 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079299 90887 90887 354.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PIEZO1 ICD10 I83: Varicose veins of lower extremities HP_0002619 4.79e-14 4.79 -14 2.759 oddsRatioConfidenceIntervalLower 3.592 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080066 380908 15125 81.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" JAK2 ICD10 R16: Hepatomegaly and splenomegaly, not elsewhere classified HP_0001744 1.32e-17 1.32 -17 7.004 oddsRatioConfidenceIntervalLower 10.947 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080805 387634 864 31.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 Treatment or Medication Code - prednisolone EFO_0007010 2.87e-15 2.87 -15 21.503 oddsRatioConfidenceIntervalLower 46.052 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078076 320758 2671 15.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" CHD2 Lymphocyte count (30120) EFO_0004587 3.37e-13 3.37 -13 "" 0.563 0.978 0.77 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 78.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SDPR Mean platelet thrombocyte volume (30100) EFO_0004584 1.48e-13 1.48 -13 "" -0.29 -0.168 -0.229 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 751.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC34A3 Urea (30670) EFO_0009795 2.63e-14 2.63 -14 "" 0.107 0.182 0.145 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 2360.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HMCN1 Sitting height (20015) EFO_0011011 1.34e-12 1.34 -12 "" 0.103 0.181 0.142 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1111.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZNF12 IGF 1 (30770) EFO_0004627 1.12e-18 1.12 -18 "" 0.471 0.74 0.605 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 171.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SYNJ2 Alkaline phosphatase (30610) EFO_0004533 1.19e-13 1.19 -13 "" -0.065 -0.038 -0.051 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 17118.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RHAG Reticulocyte percentage (30240) EFO_0010700 4.46e-49 4.46 -49 "" 0.567 0.741 0.654 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 451.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" JAK2 Reticulocyte percentage (30240) EFO_0010700 4.34e-12 4.34 -12 "" 0.101 0.18 0.141 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 2137.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PCSK9 LDL direct (30780) EFO_0004611 1.15e-45 1.15 -45 "" -0.883 -0.668 -0.775 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 291.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 1.21e-34 1.21 -34 7.552 oddsRatioConfidenceIntervalLower 10.428 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 69.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 3.32e-34 3.32 -34 13.448 oddsRatioConfidenceIntervalLower 20.421 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 47.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB Treatment or Medication Code - simvastatin EFO_0007010 1.11e-12 1.11 -12 0.32 oddsRatioConfidenceIntervalLower 0.438 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078009 320758 51781 31.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CALR Reticulocyte percentage (30240) EFO_0010700 7.25e-12 7.25 -12 "" 0.555 0.999 0.777 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 69.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" DDR2 Standing height (50) EFO_0004339 3.01e-18 3.01 -18 "" -0.304 -0.192 -0.248 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 419.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SMAD6 Ankle spacing width left (4100) EFO_0004324 1.96e-12 1.96 -12 "" 0.215 0.381 0.298 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079148 166283 166283 360.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC7A9 Cystatin C (30720) EFO_0004617 6.22e-12 6.22 -12 "" -0.126 -0.07 -0.098 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 3312.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GIGYF1 Cystatin C (30720) EFO_0004617 3.68e-12 3.68 -12 "" 0.331 0.591 0.461 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 154.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 N18.9: Chronic kidney disease, unspecified EFO_0003884 1.6899999999999999e-28 1.69 -28 11.592 oddsRatioConfidenceIntervalLower 17.887 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080583 387930 3916 42.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" UGT1A9 Direct bilirubin (30660) EFO_0004570 3.24e-16 3.24 -16 "" 0.302 0.492 0.397 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 352.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB Triglycerides (30870) EFO_0004530 4.4399999999999997e-94 4.44 -94 "" -1.139 -0.941 -1.04 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 318.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PFKM Haematocrit percentage (30030) EFO_0004348 4.83e-21 4.83 -21 "" 0.135 0.207 0.171 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1808.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC4A1 High light scatter reticulocyte percentage (30290) EFO_0010700 1.86e-14 1.86 -14 "" 0.282 0.475 0.378 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 359.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TET2 Reticulocyte count (30250) EFO_0007986 1.25e-18 1.25 -18 "" 0.152 0.239 0.196 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1754.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PROS1 ICD10 I26: Pulmonary embolism EFO_0003827 8.19e-12 8.19 -12 2.771 oddsRatioConfidenceIntervalLower 3.712 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079984 387206 5221 63.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 I10: Essential (primary) hypertension MONDO_0001134 5.07e-13 5.07 -13 2.187 oddsRatioConfidenceIntervalLower 2.704 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079962 374207 105117 183.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" CD36 Apolipoprotein A (30630) EFO_0004732 2.72e-28 2.72 -28 "" 0.202 0.289 0.245 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1459.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOA5 Triglycerides (30870) EFO_0004530 2.53e-36 2.53 -36 "" 0.339 0.465 0.402 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 805.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PAPPA2 Arm predicted mass left (23126) EFO_0004302 1.31e-11 1.31 -11 "" -0.125 -0.069 -0.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 1620.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SMAD6 3mm weak meridian left (5096) EFO_0004731 4.96e-17 4.96 -17 "" 0.294 0.473 0.384 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 384.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC4A1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 7.95e-18 7.95 -18 "" 0.335 0.532 0.433 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 363.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGF1R Basal metabolic rate (23105) EFO_0007777 1.93e-13 1.93 -13 "" -0.144 -0.083 -0.113 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 1485.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I42.9: Cardiomyopathy, unspecified EFO_0000318 5.47e-17 5.47 -17 4.854 oddsRatioConfidenceIntervalLower 7.024 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079999 387930 681 45.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" OBSCN Impedance of whole body (23106) HP_0000924 1.68e-14 1.68 -14 "" -0.063 -0.038 -0.051 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 11787.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MLH1 ICD10 Z98.0: Intestinal bypass and anastomosis status EFO_0002571 7e-12 7.0 -12 18.183 oddsRatioConfidenceIntervalLower 41.657 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081435 387928 2891 12.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" MSH6 ICD10 C54: Malignant neoplasm of corpus uteri EFO_0007532 9.96e-14 9.96 -14 5.137 oddsRatioConfidenceIntervalLower 7.906 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079608 211679 1515 34.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 3mm weak meridian left (5096) EFO_0004731 1.41e-14 1.41 -14 "" 0.256 0.431 0.343 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 404.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHEK2 Mean corpuscular volume (30040) EFO_0004526 7.31e-12 7.31 -12 "" -0.149 -0.082 -0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 2756.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANK1 Mean sphered cell volume (30270) EFO_0004526 8.839999999999999e-23 8.84 -23 "" -0.356 -0.237 -0.296 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 915.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LDLR Non cancer illness code self reported - high cholesterol HP_0003124 2.45e-51 2.45 -51 6.09 oddsRatioConfidenceIntervalLower 7.703 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 174.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Haematocrit percentage (30030) EFO_0004348 2.71e-55 2.71 -55 "" -1.374 -1.068 -1.221 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 98.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" POLE Mean corpuscular haemoglobin (30050) EFO_0004527 1.64e-26 1.64 -26 "" 0.125 0.181 0.153 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 3802.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" KLHDC7B Hearing difficulty problems - Yes (2247) EFO_0007616 4.21e-28 4.21 -28 1.962 oddsRatioConfidenceIntervalLower 2.212 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 511.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR CAD Loose CC (RGC) EFO_0001645 3.52e-14 3.52 -14 6.989 oddsRatioConfidenceIntervalLower 11.557 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081465 387011 33971 33.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" KIAA1109 Mean platelet thrombocyte volume (30100) EFO_0004584 7.88e-20 7.88 -20 "" -0.391 -0.253 -0.322 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 566.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ARHGAP10 Mean platelet thrombocyte volume (30100) EFO_0004584 2.63e-14 2.63 -14 "" 0.201 0.34 0.27 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 562.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK ICD10 E11.9: Type 2 diabetes mellitus without complications MONDO_0005148 3.9000000000000004e-27 3.9 -27 4.599 oddsRatioConfidenceIntervalLower 6.068 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079741 385838 26590 93.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" POLE Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.49e-29 6.49 -29 "" 0.323 0.461 0.392 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 689.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IFRD2 High light scatter reticulocyte percentage (30290) EFO_0010700 1.4e-11 1.4 -11 "" 0.282 0.512 0.397 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 254.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RASA2 Lymphocyte count (30120) EFO_0004587 6.25e-12 6.25 -12 "" -0.464 -0.258 -0.361 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 318.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL4A4 Urate (30880) EFO_0004531 1.02e-14 1.02 -14 "" 0.173 0.291 0.232 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 683.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HSCB Red blood cell erythrocyte distribution width (30070) EFO_0009188 4.65e-15 4.65 -15 "" 0.107 0.178 0.142 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 2603.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACO1 Haemoglobin concentration (30020) EFO_0004509 2.9400000000000003e-21 2.94 -21 "" 0.125 0.19 0.157 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 2032.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LPL Apolipoprotein A (30630) EFO_0004732 1.72e-22 1.72 -22 "" -0.419 -0.279 -0.349 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 561.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LIPG Apolipoprotein A (30630) EFO_0004732 6.73e-27 6.73 -27 "" 0.448 0.648 0.548 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 276.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Arm fat mass left (23124) EFO_0005409 5.91e-26 5.91 -26 "" 0.226 0.33 0.278 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078927 423512 423512 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPG7 Ease of skin tanning - Get very tanned (1727) EFO_0007009 5.74e-13 5.74 -13 0.845 oddsRatioConfidenceIntervalLower 0.885 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 2385.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK OralDiabetes Med (RGC) EFO_0007010 1.08e-14 1.08 -14 17.816 oddsRatioConfidenceIntervalLower 36.981 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081503 320758 13132 18.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HK1 Glycated haemoglobin HbA1c (30750) EFO_0004541 6.1e-16 6.1 -16 "" -0.427 -0.26 -0.343 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 435.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Leg fat percentage right (23111) EFO_0007800 9.02e-17 9.02 -17 "" 0.107 0.173 0.14 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078914 423666 423666 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TFRC Mean corpuscular volume (30040) EFO_0004526 5.11e-50 5.11 -50 "" -1.594 -1.223 -1.408 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 87.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C77.3: Secondary and unspecified malignant neoplasm of axilla and upper limb lymph nodes MONDO_0024339 1.14e-19 1.14 -19 5.752 oddsRatioConfidenceIntervalLower 8.393 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079618 387930 2725 46.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD1 ICD10 N28: Other disorders of kidney and ureter, not elsewhere classified EFO_0009690 1.48e-12 1.48 -12 8.7 oddsRatioConfidenceIntervalLower 15.839 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080595 387002 3413 20.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CST3 Cystatin C (30720) EFO_0004617 6.58e-29 6.58 -29 "" -3.946 -2.767 -3.356 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 8.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" COL27A1 Standing height (50) EFO_0004339 8.21e-13 8.21 -13 "" -0.421 -0.24 -0.331 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 157.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ASXL1 ICD10 F17: Nicotine dependence EFO_0003768 1.09e-22 1.09 -22 2.328 oddsRatioConfidenceIntervalLower 2.757 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079798 370495 32828 205.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TECTA hearing loss (RGC) EFO_0004238 1.07e-16 1.07 -16 1.352 oddsRatioConfidenceIntervalLower 1.452 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 1400.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PROS1 VTE PE CC (RGC) EFO_0004286 4.08e-12 4.08 -12 2.826 oddsRatioConfidenceIntervalLower 3.791 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081536 376456 5226 63.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TPM4 Mean platelet thrombocyte volume (30100) EFO_0004584 1.75e-18 1.75 -18 "" 1.066 1.68 1.373 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 29.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CD36 Apolipoprotein A (30630) EFO_0004732 4.08e-41 4.08 -41 "" 0.171 0.23 0.201 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 3255.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I42.0: Dilated cardiomyopathy EFO_0000407 2.6400000000000003e-56 2.64 -56 14.177 oddsRatioConfidenceIntervalLower 19.695 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079998 387930 858 74.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SPTA1 High light scatter reticulocyte count (30300) EFO_0007986 2.43e-25 2.43 -25 "" 0.454 0.665 0.56 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 299.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 DD Cancer - Yes (2453) EFO_0000311 4.87e-25 4.87 -25 3.091 oddsRatioConfidenceIntervalLower 3.828 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 138.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANGPTL7 Intra ocular pressure Goldmann correlated right (5255) EFO_0004695 6.079999999999999e-23 6.08 -23 "" -0.264 -0.176 -0.22 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079334 105888 105888 1877.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OCA2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 2.68e-298 2.68 -298 0.428 oddsRatioConfidenceIntervalLower 0.448 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 2420.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLCO1B3 Direct bilirubin (30660) EFO_0004570 9.86e-69 9.86 -69 "" 0.267 0.334 0.3 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 2304.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANKRD12 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.96e-13 6.96 -13 "" 0.272 0.477 0.375 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 312.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Haemoglobin concentration (30020) EFO_0004509 7.89e-12 7.89 -12 "" -1.704 -0.945 -1.325 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GNB1 Basophil percentage (30220) EFO_0007992 1.14e-12 1.14 -12 "" 0.292 0.514 0.403 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078999 418454 418454 304.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ATM DD Cancer - Yes (2453) EFO_0000311 4.94e-16 4.94 -16 1.961 oddsRatioConfidenceIntervalLower 2.308 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 206.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IRS1 Trunk predicted mass (23130) EFO_0004324 4.43e-25 4.43 -25 "" -0.587 -0.4 -0.494 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 140.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - ezetimibe EFO_0007010 1.4399999999999997e-23 1.44 -23 15.813 oddsRatioConfidenceIntervalLower 27.157 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078226 320758 2675 29.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 2.81e-18 2.81 -18 "" 0.38 0.6 0.49 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 45.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PDE3B Reticulocyte count (30250) EFO_0007986 2.48e-16 2.48 -16 "" -0.211 -0.129 -0.17 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 2012.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SEC23B Mean sphered cell volume (30270) EFO_0004526 3.1e-12 3.1 -12 "" -0.378 -0.212 -0.295 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 460.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CXCL2 Lymphocyte percentage (30180) EFO_0007993 1.54e-11 1.54 -11 "" 0.397 0.722 0.559 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 126.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LPL Apolipoprotein A (30630) EFO_0004732 5.64e-25 5.64 -25 "" -0.407 -0.277 -0.342 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 654.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANKRD12 Education score England (26414) EFO_0011015 2.01e-13 2.01 -13 "" 0.317 0.547 0.432 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078953 369491 369491 273.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 Illnesses of mother - Breast cancer (20110) EFO_0009640 4.7e-20 4.7 -20 1.389 oddsRatioConfidenceIntervalLower 1.49 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 965.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Reticulocyte percentage (30240) EFO_0010700 1.57e-13 1.57 -13 "" -0.196 -0.114 -0.155 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 2012.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" AHSP Mean corpuscular haemoglobin (30050) EFO_0004527 1.08e-12 1.08 -12 "" -0.382 -0.217 -0.299 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 442.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Arm predicted mass right (23122) EFO_0004302 3.75e-20 3.75 -20 "" -0.082 -0.053 -0.068 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 5844.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RRBP1 Cholesterol (30690) EFO_0004574 1.77e-13 1.77 -13 "" -0.616 -0.357 -0.487 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 192.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GMPR Mean corpuscular volume (30040) EFO_0004526 9.12e-15 9.12 -15 "" 0.186 0.313 0.249 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 779.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Eosinophil count (30150) EFO_0004842 2.8e-57 2.8 -57 "" -0.393 -0.307 -0.35 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 1777.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PROS1 VTE Composite CC (RGC) EFO_0003907 4.56e-12 4.56 -12 22.872 oddsRatioConfidenceIntervalLower 55.508 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081534 225913 5702 13.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" MYD88 Type of Cancer: Lymphoid leukemia (40006) EFO_0004289 3.95e-15 3.95 -15 42.402 oddsRatioConfidenceIntervalLower 107.986 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079125 74230 699 12.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLCO1B3 Total bilirubin (30840) EFO_0004570 1.03e-28 1.03 -28 "" 0.213 0.304 0.259 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1179.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" JAK2 IGF 1 (30770) EFO_0004627 1.15e-22 1.15 -22 "" -0.286 -0.191 -0.238 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1347.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 ICD10 C78: Secondary malignant neoplasm of respiratory and digestive organs EFO_0009812 8.37e-12 8.37 -12 3.073 oddsRatioConfidenceIntervalLower 4.241 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079625 387835 6526 54.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Arm fat percentage left (23123) EFO_0007800 1.57e-12 1.57 -12 "" 0.258 0.455 0.356 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078926 423545 423545 197.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Forced vital capacity FVC (3062) EFO_0004312 7.74e-13 7.74 -13 "" -0.096 -0.055 -0.075 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 4124.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RHAG Reticulocyte percentage (30240) EFO_0010700 2.34e-48 2.34 -48 "" 0.835 1.094 0.964 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 204.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" WNT1 Heel bone mineral density BMD T score automated (78) EFO_0009270 4.26e-15 4.26 -15 "" -0.564 -0.338 -0.451 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 236.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - ezetimibe EFO_0007010 2.5799999999999997e-38 2.58 -38 19.157 oddsRatioConfidenceIntervalLower 29.959 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078226 320758 2675 44.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" JAK2 ICD10 R16: Hepatomegaly and splenomegaly, not elsewhere classified HP_0002240 1.32e-17 1.32 -17 7.004 oddsRatioConfidenceIntervalLower 10.947 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080805 387634 864 31.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" G6PC Gamma glutamyltransferase (30730) EFO_0004532 5.45e-16 5.45 -16 "" 0.139 0.227 0.183 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1451.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 C50: Malignant neoplasm of breast EFO_0003869 8.33e-19 8.33 -19 2.968 oddsRatioConfidenceIntervalLower 3.777 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 103.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NF1 Standing height (50) EFO_0004339 1.47e-13 1.47 -13 "" -0.158 -0.092 -0.125 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1173.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TECTA Hearing difficulty problems - Yes (2247) EFO_0007616 4.36e-15 4.36 -15 1.841 oddsRatioConfidenceIntervalLower 2.144 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 309.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDZK1 Urate (30880) EFO_0004531 7.14e-21 7.14 -21 "" -0.619 -0.405 -0.512 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 206.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 1.2400000000000001e-29 1.24 -29 2.531 oddsRatioConfidenceIntervalLower 2.973 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 209.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IRS1 Leg fat free mass left (23117) EFO_0004995 7.07e-17 7.07 -17 "" -0.514 -0.318 -0.416 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 140.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FLCN Non cancer illness code self reported - spontaneous pneumothorax recurrent pneumothorax HP_0002108 6.59e-13 6.59 -13 18.584 oddsRatioConfidenceIntervalLower 41.231 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077685 331754 1058 13.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" A1CF Gamma glutamyltransferase (30730) EFO_0004532 2.4699999999999997e-23 2.47 -23 "" 0.069 0.103 0.086 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 9952.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TUBB1 Platelet distribution width (30110) EFO_0007984 2.52e-94 2.52 -94 "" 0.894 1.082 0.988 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 358.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TUBB1 Mean platelet thrombocyte volume (30100) EFO_0004584 1.8199999999999997e-95 1.82 -95 "" 0.807 0.976 0.892 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 382.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOB LipidLowering Med (RGC) EFO_0007010 1.41e-21 1.41 -21 0.267 oddsRatioConfidenceIntervalLower 0.35 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 45.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GHRH IGF 1 (30770) EFO_0004627 6.51e-14 6.51 -14 "" -0.827 -0.484 -0.656 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 104.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GP1BB Platelet crit (30090) EFO_0007985 1.46e-15 1.46 -15 "" -1.202 -0.728 -0.965 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 52.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SRSF2 HDL cholesterol (30760) EFO_0004612 4.09e-14 4.09 -14 "" -0.604 -0.355 -0.48 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 166.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ABCB4 ICD10 K80.2: Calculus of gallbladder without cholecystitis EFO_1000790 1.93e-11 1.93 -11 2.145 oddsRatioConfidenceIntervalLower 2.68 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080295 387904 10288 122.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC45A2 Ease of skin tanning - Get very tanned (1727) EFO_0007009 3.34e-13 3.34 -13 0.273 oddsRatioConfidenceIntervalLower 0.388 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 25.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANK1 Reticulocyte percentage (30240) EFO_0010700 5.62e-15 5.62 -15 "" 0.059 0.099 0.079 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 8817.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 2.2300000000000002e-307 2.23 -307 "" -1.417 -1.285 -1.351 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 720.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IQGAP2 Mean platelet thrombocyte volume (30100) EFO_0004584 1.8700000000000001e-97 1.87 -97 "" 0.605 0.73 0.667 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 708.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PDE3B Reticulocyte percentage (30240) EFO_0010700 1.57e-13 1.57 -13 "" -0.196 -0.114 -0.155 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 2012.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 5.47e-12 5.47 -12 2.783 oddsRatioConfidenceIntervalLower 3.723 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 84.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGFALS Arm predicted mass left (23126) EFO_0004302 4.27e-13 4.27 -13 "" -0.12 -0.069 -0.094 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 1957.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" OCA2 Hair colour natural before greying - Blonde (1747) EFO_0007822 7.55e-28 7.55 -28 4.056 oddsRatioConfidenceIntervalLower 5.213 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 120.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ZFAT Whole body fat free mass (23101) EFO_0004995 3.19e-12 3.19 -12 "" 0.212 0.378 0.295 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 177.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" ZFAT Leg predicted mass right (23114) EFO_0004302 1.3400000000000002e-21 1.34 -21 "" 0.111 0.168 0.139 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 1595.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PRSS56 3mm weak meridian right (5099) EFO_0004731 7.62e-12 7.62 -12 "" 0.32 0.577 0.449 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 188.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC4A1 Direct bilirubin (30660) EFO_0004570 1.3700000000000002e-21 1.37 -21 "" 0.736 1.116 0.926 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 70.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IRS1 Sitting height (20015) EFO_0011011 7.94e-16 7.94 -16 "" -0.553 -0.337 -0.445 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 145.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PIEZO1 Arm fat free mass left (23125) EFO_0004995 1.83e-11 1.83 -11 "" -0.055 -0.03 -0.043 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 8424.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBQ1 Mean corpuscular volume (30040) EFO_0004526 1.2e-19 1.2 -19 "" -0.841 -0.542 -0.692 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 233.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Eosinophil count (30150) EFO_0004842 1.14e-51 1.14 -51 "" -0.403 -0.311 -0.357 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 1529.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.89e-13 3.89 -13 "" -2.532 -1.456 -1.994 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 14.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC1R Skin colour - Dark olive (1717) EFO_0003784 8.99e-17 8.99 -17 0.29 oddsRatioConfidenceIntervalLower 0.388 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077600 425361 7210 28.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 corneal power (RGC) EFO_0004731 1.1200000000000001e-22 1.12 -22 "" 0.455 0.682 0.568 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081537 103531 103531 236.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" COL6A1 Corneal hysteresis left (5264) EFO_0010066 9.53e-13 9.53 -13 "" -1.696 -0.965 -1.331 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079339 105697 105697 26.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" UGT1A3 Total bilirubin (30840) EFO_0004570 5.13e-16 5.13 -16 "" 0.331 0.542 0.437 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9811 9811 334.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MLH1 ICD10 Z08.0: Follow-up examination after surgery for malignant neoplasm (Z08.0) EFO_0004542 3.93e-17 3.93 -17 20.185 oddsRatioConfidenceIntervalLower 40.644 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081197 387930 4711 18.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" E2F4 Mean reticulocyte volume (30260) EFO_0010701 3.57e-17 3.57 -17 "" 1.207 1.938 1.573 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 24.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD2 Creatinine (30700) EFO_0004518 6.36e-12 6.36 -12 "" 0.362 0.651 0.506 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 105.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 Z94: Transplanted organ and tissue status EFO_0002571 1.13e-22 1.13 -22 3.322 oddsRatioConfidenceIntervalLower 4.224 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081418 387906 1305 98.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Basal metabolic rate (23105) EFO_0007777 6.33e-20 6.33 -20 "" -0.829 -0.536 -0.682 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 63.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RHAG Reticulocyte percentage (30240) EFO_0010700 5e-13 5.0 -13 "" 0.379 0.662 0.521 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 171.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CHEK2 Platelet count (30080) EFO_0004309 7.05e-13 7.05 -13 "" 0.086 0.151 0.119 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 2756.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MLH1 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 2e-15 2.0 -15 14.571 oddsRatioConfidenceIntervalLower 28.224 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 20.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HOXB13 Type of Cancer: Malignant neoplasm of prostate (40006) EFO_0001663 6.82e-15 6.82 -15 2.854 oddsRatioConfidenceIntervalLower 3.717 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079112 33225 8498 128.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MSH6 Type of Cancer: Malignant neoplasm of corpus uteri (40006) EFO_0007532 3.16e-18 3.16 -18 19.019 oddsRatioConfidenceIntervalLower 36.913 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079110 41005 1612 23.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PIEZO1 ICD10 I83.9: Asymptomatic varicose veins of lower extremities HP_0002619 6.64e-13 6.64 -13 1.72 oddsRatioConfidenceIntervalLower 1.995 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080065 387815 11767 221.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SMAD6 Ankle spacing width (3143) EFO_0004324 1.47e-26 1.47 -26 "" 0.243 0.353 0.298 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 815.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GAS8 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 2.11e-16 2.11 -16 1.277 oddsRatioConfidenceIntervalLower 1.354 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 1599.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASGR1 LDL direct (30780) EFO_0004611 2.33e-14 2.33 -14 "" -0.322 -0.19 -0.256 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 765.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NF1 Standing height (50) EFO_0004339 2.87e-19 2.87 -19 "" -0.351 -0.225 -0.288 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 325.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MEPE Speed of sound through heel (3146) EFO_0005654 1.08e-35 1.08 -35 "" -0.41 -0.298 -0.354 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 985.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC22A11 Urate (30880) EFO_0004531 2.18e-20 2.18 -20 "" 0.087 0.134 0.11 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 4365.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTA1 Total bilirubin (30840) EFO_0004570 1.2500000000000001e-21 1.25 -21 "" 0.348 0.527 0.437 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 296.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" KDM5B Mean time to correctly identify matches (20023) EFO_0008354 1.75e-15 1.75 -15 "" 0.346 0.572 0.459 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078252 427920 427920 253.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CLDN10 Cystatin C (30720) EFO_0004617 8.5e-12 8.5 -12 "" 0.595 1.075 0.835 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 45.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 3.89e-19 3.89 -19 15.687 oddsRatioConfidenceIntervalLower 28.683 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 23.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PKD1 ICD10 Q61: Cystic kidney disease EFO_0008615 1.44e-53 1.44 -53 5.689 oddsRatioConfidenceIntervalLower 7.097 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 134.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 6.53e-227 6.53 -227 "" -3.038 -2.689 -2.863 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 98.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Whole body water mass (23102) EFO_0009805 1.34e-12 1.34 -12 "" 0.222 0.392 0.307 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 170.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TMPRSS6 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.95e-45 2.95 -45 "" 0.264 0.349 0.306 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1822.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MIP ICD10 H26.9: Unspecified cataract MONDO_0005129 1.95e-17 1.95 -17 13.76 oddsRatioConfidenceIntervalLower 25.192 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079892 387427 17761 25.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TFRC Mean corpuscular haemoglobin concentration (30060) EFO_0004528 4.67e-16 4.67 -16 "" -1.037 -0.634 -0.835 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 87.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 1.77e-13 1.77 -13 4.592 oddsRatioConfidenceIntervalLower 6.889 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 40.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Whole body fat mass (23100) EFO_0005409 1.0499999999999999e-23 1.05 -23 "" 0.24 0.356 0.298 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078904 423023 423023 935.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FANCA Skin colour - Light olive (1717) EFO_0003784 2.92e-21 2.92 -21 1.333 oddsRatioConfidenceIntervalLower 1.415 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 1672.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CUBN Microalbumin in urine (30500) EFO_0010967 4.71e-16 4.71 -16 "" 0.081 0.132 0.107 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 5767.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Whole body fat free mass (23101) EFO_0004995 7.59e-13 7.59 -13 "" 0.225 0.395 0.31 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 170.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTSL4 Forced expiratory volume in 1 second FEV1 (3063) EFO_0004314 2.72e-12 2.72 -12 "" -0.135 -0.076 -0.106 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079017 395451 395451 2134.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GMPR Mean corpuscular volume (30040) EFO_0004526 5.5099999999999995e-93 5.51 -93 "" 0.271 0.328 0.299 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 3789.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TBX5 Pulse rate automated reading (102) EFO_0004326 5.4899999999999995e-34 5.49 -34 "" 0.146 0.203 0.175 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 4522.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MSH6 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 5.39e-13 5.39 -13 6.933 oddsRatioConfidenceIntervalLower 11.732 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 25.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MPL Platelet crit (30090) EFO_0007985 2.89e-25 2.89 -25 "" 0.322 0.472 0.397 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 527.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" AGER FEV1 FVC ratio Z score (20258) EFO_0004713 2.37e-13 2.37 -13 "" -0.237 -0.137 -0.187 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 1395.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.8000000000000002e-158 1.8 -158 "" 1.967 2.277 2.122 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 98.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IRS1 Weight (21002) EFO_0004338 1.65e-11 1.65 -11 "" -0.589 -0.324 -0.456 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 145.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Whole body water mass (23102) EFO_0009805 3.36e-30 3.36 -30 "" 0.227 0.321 0.274 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 554.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SPTA1 Reticulocyte count (30250) EFO_0007986 6.16e-39 6.16 -39 "" 0.599 0.811 0.705 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 299.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANKRD11 Hair colour natural before greying - Red (1747) EFO_0007822 8.66e-12 8.66 -12 0.574 oddsRatioConfidenceIntervalLower 0.673 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 131.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC ICD10 Z93.2: Ileostomy status EFO_0002571 1.1e-21 1.1 -21 50.818 oddsRatioConfidenceIntervalLower 113.64 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081413 387887 1429 16.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SCUBE3 Arm predicted mass right (23122) EFO_0004302 1.54e-14 1.54 -14 "" -0.155 -0.092 -0.123 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 1216.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 7.88e-49 7.88 -49 "" -1.596 -1.22 -1.408 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 88.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" SPTA1 Mean reticulocyte volume (30260) EFO_0010701 1.09e-43 1.09 -43 "" -0.764 -0.575 -0.669 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 365.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ABCB4 Non cancer illness code self reported - cholelithiasis gall stones/ICD10 K80 EFO_0004210 5.53e-12 5.53 -12 1.481 oddsRatioConfidenceIntervalLower 1.656 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077705 329052 7073 392.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Trunk fat percentage (23127) EFO_0004324 2.12e-11 2.12 -11 "" 0.117 0.213 0.165 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078930 423451 423451 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IHH Standing height (50) EFO_0004339 1.27e-13 1.27 -13 "" -1.576 -0.917 -1.247 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 12.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PTPRJ Mean platelet thrombocyte volume (30100) EFO_0004584 7.23e-25 7.23 -25 "" -0.581 -0.395 -0.488 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 317.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SPSB3 Sitting height (20015) EFO_0011011 2.79e-30 2.79 -30 "" -0.109 -0.077 -0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 6612.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IL17RA Monocyte count (30130) EFO_0005091 1.11e-11 1.11 -11 "" -0.35 -0.193 -0.272 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 498.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CA1 Reticulocyte count (30250) EFO_0007986 5.46e-13 5.46 -13 "" 0.203 0.354 0.278 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 582.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Basal metabolic rate (23105) EFO_0007777 1.59e-34 1.59 -34 "" 0.112 0.154 0.133 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 3013.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKHD1 Gamma glutamyltransferase (30730) EFO_0004532 1.02e-17 1.02 -17 "" 0.133 0.211 0.172 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1843.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SRSF2 Reticulocyte percentage (30240) EFO_0010700 1.14e-11 1.14 -11 "" 0.482 0.874 0.678 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 89.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Haematocrit percentage (30030) EFO_0004348 4.95e-15 4.95 -15 "" -0.179 -0.108 -0.143 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1779.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Comparative body size at age 10 - Plumper (1687) EFO_0009819 2.3800000000000002e-32 2.38 -32 6.071 oddsRatioConfidenceIntervalLower 8.183 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077589 423612 68629 104.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LCORL Basal metabolic rate (23105) EFO_0007777 2.1e-13 2.1 -13 "" 0.219 0.378 0.299 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 213.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" NR1H3 HDL cholesterol (30760) EFO_0004612 1.12e-11 1.12 -11 "" 0.242 0.438 0.34 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 270.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GGT1 Gamma glutamyltransferase (30730) EFO_0004532 7.2e-52 7.2 -52 "" -1.539 -1.186 -1.362 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 94.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" WNT1 Heel bone mineral density BMD T score automated (78) EFO_0009270 9.54e-16 9.54 -16 "" -0.586 -0.356 -0.471 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 227.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANGPTL2 Standing height (50) EFO_0004339 3.14e-16 3.14 -16 "" -0.323 -0.198 -0.26 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 330.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PLEKHO2 Platelet distribution width (30110) EFO_0007984 5.06e-12 5.06 -12 "" 0.491 0.88 0.686 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 81.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASXL1 Platelet distribution width (30110) EFO_0007984 1.6e-21 1.6 -21 "" 0.111 0.168 0.14 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 3857.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ALPL Phosphate (30810) EFO_0010968 4.13e-184 4.13 -184 "" 0.815 0.933 0.874 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 964.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GCK Treatment or Medication Code - metformin EFO_0007010 6.88e-12 6.88 -12 6.869 oddsRatioConfidenceIntervalLower 11.913 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078119 320758 11579 24.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TET2 Eosinophil percentage (30210) EFO_0007991 9.050000000000001e-26 9.05 -26 "" -0.436 -0.299 -0.368 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 710.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 5.81e-16 5.81 -16 "" 1.517 2.486 2.001 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 10.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" SLC45A2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 1.8e-27 1.8 -27 2.488 oddsRatioConfidenceIntervalLower 2.932 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 271.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NF1 Non cancer illness code self reported - other neurological problem/ICD10 G98 EFO_0000618 2.38e-25 2.38 -25 17.178 oddsRatioConfidenceIntervalLower 29.352 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077843 329052 1701 29.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" BRCA2 Type of Cancer: Malignant neoplasm of ovary (40006) EFO_0003893 1.23e-11 1.23 -11 4.557 oddsRatioConfidenceIntervalLower 7.067 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079111 41005 1106 34.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK DD DM - Yes (2443) EFO_0000400 1.2299999999999998e-23 1.23 -23 22.735 oddsRatioConfidenceIntervalLower 41.882 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078949 429739 22058 29.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 corneal power (RGC) EFO_0004731 3.85e-19 3.85 -19 "" 0.595 0.93 0.763 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081537 103531 103531 109.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS10 Standing height (50) EFO_0004339 4.99e-16 4.99 -16 "" -0.616 -0.376 -0.496 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 89.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" APC ICD10 Z90.4: Acquired absence of other specified parts of digestive tract EFO_0000405 1.4400000000000001e-21 1.44 -21 16.973 oddsRatioConfidenceIntervalLower 30.37 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081392 387855 8508 26.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC Non cancer illness code self reported - rectal or colon adenoma polyps/ICD10 D12 EFO_1000633 6.84e-16 6.84 -16 40.879 oddsRatioConfidenceIntervalLower 100.629 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077868 329052 1492 12.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 Creatinine (30700) EFO_0004518 3.1500000000000004e-36 3.15 -36 "" 0.454 0.622 0.538 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 311.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" B4GALNT3 Standing height (50) EFO_0004339 1.7e-25 1.7 -25 "" 0.079 0.116 0.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 3903.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC ICD10 D13: Benign neoplasm of other and ill-defined parts of digestive system EFO_0002422 2.3300000000000002e-29 2.33 -29 71.302 oddsRatioConfidenceIntervalLower 149.957 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079664 387696 1532 20.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TFRC Mean corpuscular haemoglobin (30050) EFO_0004527 5.68e-55 5.68 -55 "" -1.665 -1.294 -1.479 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 87.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 3.15e-127 3.15 -127 "" -2.408 -2.044 -2.226 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 96.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN ICD10 I50.9: Heart failure, unspecified EFO_0003144 3.35e-14 3.35 -14 3.64 oddsRatioConfidenceIntervalLower 5.083 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080022 387930 2407 52.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN ICD10 I50.9: Heart failure, unspecified EFO_0003144 1.25e-11 1.25 -11 2.445 oddsRatioConfidenceIntervalLower 3.168 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080022 387930 2407 78.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" JAK2 Immature reticulocyte fraction (30280) EFO_0010700 2.97e-13 2.97 -13 "" 0.11 0.19 0.15 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 2136.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MFSD2B Glycated haemoglobin HbA1c (30750) EFO_0004541 1.67e-13 1.67 -13 "" 0.067 0.115 0.091 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 5699.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 1.25e-11 1.25 -11 "" -2.233 -1.231 -1.732 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2106 2106 16.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS3 Impedance of arm left (23110) HP_0000924 6.76e-23 6.76 -23 "" -0.105 -0.07 -0.088 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 5509.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MLH1 Type of Cancer: Malignant neoplasm of cecum (40006) EFO_0009255 1.61e-11 1.61 -11 15.727 oddsRatioConfidenceIntervalLower 35.056 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079080 74230 648 13.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CAD Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.56e-22 5.56 -22 "" 0.489 0.739 0.614 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 210.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MYD88 Type of Cancer: Chronic lymphocytic leukemia of B-cell type (40006) EFO_0000095 7.22e-14 7.22 -14 25.5 oddsRatioConfidenceIntervalLower 59.552 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079124 74230 571 13.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOB Cholesterol (30690) EFO_0004574 1.08e-18 1.08 -18 "" -0.122 -0.078 -0.1 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 6780.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I42: Cardiomyopathy EFO_0000318 4.57e-36 4.57 -36 12.514 oddsRatioConfidenceIntervalLower 18.575 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 50.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" ZFAT Whole body water mass (23102) EFO_0009805 2.66e-12 2.66 -12 "" 0.214 0.38 0.297 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 177.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" CAD Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.56e-22 5.56 -22 "" 0.489 0.739 0.614 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 210.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RHAG Glycated haemoglobin HbA1c (30750) EFO_0004541 2.89e-36 2.89 -36 "" -0.959 -0.7 -0.829 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 176.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Non cancer illness code self reported - atrial fibrillation EFO_0000275 6.26e-13 6.26 -13 4.515 oddsRatioConfidenceIntervalLower 6.808 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077881 331754 3921 37.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" CALR Platelet count (30080) EFO_0004309 4.02e-14 4.02 -14 "" 0.192 0.327 0.26 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 647.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC2A9 Urate (30880) EFO_0004531 1.03e-41 1.03 -41 "" -1.033 -0.772 -0.902 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 148.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" WNT1 Heel quantitative ultrasound index QUI direct entry right (4123) EFO_0004514 1.65e-12 1.65 -12 "" -0.613 -0.347 -0.48 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079157 166358 166358 167.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CEP350 Mean reticulocyte volume (30260) EFO_0010701 1.4e-12 1.4 -12 "" -0.617 -0.349 -0.483 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 183.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PCSK9 Non cancer illness code self reported - high cholesterol HP_0003124 6.31e-15 6.31 -15 0.433 oddsRatioConfidenceIntervalLower 0.534 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 81.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SRSF2 High light scatter reticulocyte count (30300) EFO_0007986 3.28e-35 3.28 -35 "" 0.73 1.005 0.868 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 175.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" STC2 Arm predicted mass right (23122) EFO_0004302 6.18e-18 6.18 -18 "" 0.075 0.119 0.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 2488.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" THPO Platelet count (30080) EFO_0004309 2.04e-33 2.04 -33 "" -1.26 -0.908 -1.084 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 95.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TNFRSF13B Mean platelet thrombocyte volume (30100) EFO_0004584 3.03e-18 3.03 -18 "" -0.107 -0.068 -0.088 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 7148.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GP1BB Platelet crit (30090) EFO_0007985 1.46e-15 1.46 -15 "" -1.202 -0.728 -0.965 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 52.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANK1 Reticulocyte count (30250) EFO_0007986 1.39e-11 1.39 -11 "" 0.402 0.731 0.567 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 123.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGFALS IGF 1 (30770) EFO_0004627 1.86e-45 1.86 -45 "" -0.785 -0.594 -0.69 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 337.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CYR61 Impedance of leg right (23107) HP_0000924 1.04e-14 1.04 -14 "" 0.056 0.093 0.075 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 7640.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTA1 High light scatter reticulocyte percentage (30290) EFO_0010700 1.0600000000000001e-35 1.06 -35 "" 0.517 0.71 0.613 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 365.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC1R Use of sun uv protection - Sometimes (2267) EFO_0010729 1.97e-13 1.97 -13 0.811 oddsRatioConfidenceIntervalLower 0.858 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078880 430409 150448 1795.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NPR2 Standing height (50) EFO_0004339 2.09e-55 2.09 -55 "" -0.28 -0.218 -0.249 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1332.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ATP11C Direct bilirubin (30660) EFO_0004570 5.44e-20 5.44 -20 "" 0.619 0.956 0.787 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 59.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GFI1B Platelet count (30080) EFO_0004309 8.29e-53 8.29 -53 "" -0.472 -0.365 -0.418 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1027.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TNFSF13 Total protein (30860) EFO_0004536 1.42e-13 1.42 -13 "" -0.815 -0.473 -0.644 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 118.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANKRD12 Index of Multiple Deprivation England (26410) EFO_0009711 9.19e-13 9.19 -13 "" 0.304 0.534 0.419 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078952 369491 369491 273.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Leg predicted mass left (23118) EFO_0004302 3.9e-13 3.9 -13 "" 0.323 0.561 0.442 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 92.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Trunk fat mass (23128) EFO_0005409 1.75e-19 1.75 -19 "" 0.191 0.297 0.244 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078931 423433 423433 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCAT HDL cholesterol (30760) EFO_0004612 1.1500000000000001e-29 1.15 -29 "" -1.474 -1.039 -1.256 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 57.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Weight (23098) EFO_0004338 7.43e-16 7.43 -16 "" 0.354 0.581 0.467 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 197.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RUNX1 Platelet crit (30090) EFO_0007985 2.92e-13 2.92 -13 "" -1.582 -0.912 -1.247 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 26.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ABCA1 HDL cholesterol (30760) EFO_0004612 4.6499999999999993e-104 4.65 -104 "" -0.764 -0.637 -0.701 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 644.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPHK1 High light scatter reticulocyte count (30300) EFO_0007986 5.01e-38 5.01 -38 "" -0.173 -0.128 -0.15 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 6363.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SRSF2 High light scatter reticulocyte count (30300) EFO_0007986 6.25e-12 6.25 -12 "" 0.483 0.868 0.675 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 89.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TYRP1 Ease of skin tanning - Get very tanned (1727) EFO_0007009 3.79e-13 3.79 -13 0.297 oddsRatioConfidenceIntervalLower 0.412 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 29.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FCGRT Calcium (30680) EFO_0004838 5.59e-12 5.59 -12 "" -0.981 -0.546 -0.764 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 74.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HNF1A DD DM - Yes (2443) EFO_0000400 3.72e-13 3.72 -13 6.853 oddsRatioConfidenceIntervalLower 11.518 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078949 429739 22058 28.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR ICD10 I25: Chronic ischemic heart disease EFO_0003777 2.9e-19 2.9 -19 3.789 oddsRatioConfidenceIntervalLower 5.069 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079982 387110 32706 84.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GCK Non cancer illness code self reported - diabetes EFO_0000400 4.71e-16 4.71 -16 17.612 oddsRatioConfidenceIntervalLower 35.203 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077722 331754 17927 21.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC1R Skin colour - Light olive (1717) EFO_0003784 1.38e-20 1.38 -20 0.25 oddsRatioConfidenceIntervalLower 0.335 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 43.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" KCNJ5 Pulse rate automated reading (102) EFO_0004326 2.26e-14 2.26 -14 "" 0.195 0.33 0.263 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 782.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CLDN10 Cystatin C (30720) EFO_0004617 6.5e-25 6.5 -25 "" 0.681 1.001 0.841 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 101.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EPB41 Reticulocyte percentage (30240) EFO_0010700 3.53e-22 3.53 -22 "" 0.546 0.824 0.685 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 179.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" AMPD3 Glycated haemoglobin HbA1c (30750) EFO_0004541 3.94e-41 3.94 -41 "" 0.093 0.125 0.109 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 11792.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" THPO Platelet crit (30090) EFO_0007985 6.37e-17 6.37 -17 "" -0.458 -0.284 -0.371 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 390.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PROS1 ICD10 I26: Pulmonary embolism EFO_0003827 1.63e-14 1.63 -14 10.699 oddsRatioConfidenceIntervalLower 19.595 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079984 387206 5221 21.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MEPE Heel quantitative ultrasound index QUI direct entry right (4123) EFO_0004514 7.59e-24 7.59 -24 "" -0.414 -0.279 -0.346 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079157 166358 166358 653.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TCF25 Skin colour - Light olive (1717) EFO_0003784 2.02e-14 2.02 -14 1.341 oddsRatioConfidenceIntervalLower 1.445 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 1044.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Hip circumference (49) EFO_0005093 1.66e-20 1.66 -20 "" 0.197 0.302 0.249 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079253 430214 430214 1224.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" OCA2 Skin colour - Fair (1717) EFO_0003784 1.72e-14 1.72 -14 1.19 oddsRatioConfidenceIntervalLower 1.244 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077598 425361 304034 8043.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CXCR4 White blood cell leukocyte count (30000) EFO_0004308 9.080000000000001e-21 9.08 -21 "" 0.374 0.573 0.474 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 345.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CALR Platelet crit (30090) EFO_0007985 4.72e-75 4.72 -75 "" 1.698 2.105 1.902 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 71.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC47A1 Creatinine (30700) EFO_0004518 8.13e-38 8.13 -38 "" 0.127 0.173 0.15 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 4209.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PAPPA2 Trunk fat free mass (23129) EFO_0004995 2.87e-13 2.87 -13 "" -0.311 -0.179 -0.245 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 285.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Comparative body size at age 10 - Plumper (1687) EFO_0009819 2.88e-50 2.88 -50 2.704 oddsRatioConfidenceIntervalLower 3.082 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077589 423612 68629 403.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RTEL1 Mean sphered cell volume (30270) EFO_0004526 8.93e-15 8.93 -15 "" 0.287 0.481 0.384 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 336.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I42.9: Cardiomyopathy, unspecified EFO_0000318 6.62e-19 6.62 -19 5.907 oddsRatioConfidenceIntervalLower 8.742 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079999 387930 681 42.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CXCR2 White blood cell leukocyte count (30000) EFO_0004308 1.99e-17 1.99 -17 "" -0.538 -0.336 -0.437 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 335.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PFKM Haematocrit percentage (30030) EFO_0004348 4.83e-21 4.83 -21 "" 0.135 0.207 0.171 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1808.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CLDN10 Creatinine (30700) EFO_0004518 1.44e-13 1.44 -13 "" 0.226 0.389 0.308 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 328.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD1 ICD10 Q61: Cystic kidney disease EFO_0008615 4.76e-123 4.76 -123 207.08 oddsRatioConfidenceIntervalLower 322.526 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 68.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R Standing height (50) EFO_0004339 2.18e-12 2.18 -12 "" -0.794 -0.448 -0.621 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 43.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" HBA2 Mean corpuscular haemoglobin (30050) EFO_0004527 4.22e-20 4.22 -20 "" -1.576 -1.021 -1.299 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 39.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PRSS56 3mm weak meridian left (5096) EFO_0004731 7.74e-12 7.74 -12 "" 0.321 0.578 0.449 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 187.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PAPPA2 Sitting height (20015) EFO_0011011 2.8e-15 2.8 -15 "" -0.161 -0.097 -0.129 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1656.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 Mother still alive - Yes (1835) EFO_0007796 5.37e-19 5.37 -19 0.574 oddsRatioConfidenceIntervalLower 0.648 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077615 423687 167942 495.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" POLE Red blood cell erythrocyte distribution width (30070) EFO_0009188 7.84e-13 7.84 -13 "" 0.12 0.211 0.165 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1600.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PAPPA2 IGF 1 (30770) EFO_0004627 2.25e-31 2.25 -31 "" 0.197 0.277 0.237 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1937.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLCN ICD10 J93: Pneumothorax and air leak MONDO_0002076 1e-15 10.0 -16 50.325 oddsRatioConfidenceIntervalLower 131.018 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080153 387375 1190 11.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TMPRSS6 Haematocrit percentage (30030) EFO_0004348 6.33e-13 6.33 -13 "" -0.371 -0.212 -0.292 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 361.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC34A3 Creatinine (30700) EFO_0004518 4.6899999999999994e-23 4.69 -23 "" 0.195 0.292 0.244 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 940.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 ICD10 Z94: Transplanted organ and tissue status EFO_0002571 1.06e-61 1.06 -61 57.077 oddsRatioConfidenceIntervalLower 92.078 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081418 387906 1305 47.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 Ankle spacing width left (4100) EFO_0004324 1.21e-12 1.21 -12 "" 0.168 0.295 0.232 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079148 166283 166283 610.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 7.96e-24 7.96 -24 "" -1.599 -1.078 -1.339 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9830 9830 44.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GIGYF1 ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 1.97e-11 1.97 -11 4.551 oddsRatioConfidenceIntervalLower 7.086 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 37.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CHD2 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 2.73e-19 2.73 -19 111.857 oddsRatioConfidenceIntervalLower 313.216 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 11.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APOA5 Apolipoprotein A (30630) EFO_0004732 2.19e-12 2.19 -12 "" -0.39 -0.22 -0.305 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 382.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHD2 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 2.28e-22 2.28 -22 255.178 oddsRatioConfidenceIntervalLower 779.382 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 11.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" APC ICD10 Z83.7: Family history of diseases of the digestive system EFO_0000493 8.16e-20 8.16 -20 54.591 oddsRatioConfidenceIntervalLower 129.067 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081342 387433 947 14.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 4.52e-35 4.52 -35 "" -1.102 -0.8 -0.951 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 24.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CKAP2L Mean platelet thrombocyte volume (30100) EFO_0004584 3.92e-25 3.92 -25 "" -0.591 -0.403 -0.497 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 311.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RASA2 Lymphocyte percentage (30180) EFO_0007993 1.37e-12 1.37 -12 "" -0.509 -0.289 -0.399 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 273.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANTXR1 Impedance of arm left (23110) HP_0000924 2.85e-13 2.85 -13 "" -0.252 -0.145 -0.199 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 588.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MSH2 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 2.49e-13 2.49 -13 4.163 oddsRatioConfidenceIntervalLower 6.1 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 43.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Leg predicted mass right (23114) EFO_0004302 1.08e-28 1.08 -28 "" 0.154 0.219 0.186 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MEPE Heel bone mineral density BMD T score automated left (4106) EFO_0009270 5.77e-22 5.77 -22 "" -0.375 -0.248 -0.312 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079153 166283 166283 747.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 1.29e-21 1.29 -21 2.849 oddsRatioConfidenceIntervalLower 3.532 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 122.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGFALS IGF 1 (30770) EFO_0004627 2.61e-21 2.61 -21 "" -0.998 -0.656 -0.827 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 105.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MITF Cystatin C (30720) EFO_0004617 2.06e-14 2.06 -14 "" 0.069 0.116 0.092 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 4665.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 corneal power (RGC) EFO_0004731 1.19e-15 1.19 -15 "" 0.268 0.442 0.355 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081537 103531 103531 404.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASGR1 Alkaline phosphatase (30610) EFO_0004533 1.67e-261 1.67 -261 "" 1.04 1.165 1.103 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 766.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC4A1 Direct bilirubin (30660) EFO_0004570 1.3700000000000002e-21 1.37 -21 "" 0.736 1.116 0.926 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 70.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LCORL Arm predicted mass right (23122) EFO_0004302 1.92e-13 1.92 -13 "" 0.188 0.325 0.256 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 257.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - rosuvastatin EFO_0007010 3.91e-36 3.91 -36 7.4 oddsRatioConfidenceIntervalLower 10.116 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078225 320758 2905 72.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CYR61 Impedance of whole body (23106) HP_0000924 7.93e-15 7.93 -15 "" 0.047 0.079 0.063 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 7640.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Trunk predicted mass (23130) EFO_0004324 2.98e-16 2.98 -16 "" 0.218 0.356 0.287 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 257.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PALB2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 2.6600000000000002e-21 2.66 -21 4.095 oddsRatioConfidenceIntervalLower 5.481 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 77.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RPL3L Creatinine (30700) EFO_0004518 6.53e-13 6.53 -13 "" -0.057 -0.033 -0.045 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 15052.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ATP11C Total bilirubin (30840) EFO_0004570 4.31e-16 4.31 -16 "" 0.492 0.805 0.649 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 67.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Arm fat mass right (23120) EFO_0005409 2.6300000000000002e-27 2.63 -27 "" 0.265 0.381 0.323 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078923 423576 423576 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACAN Leg fat free mass right (23113) EFO_0004995 1.88e-14 1.88 -14 "" -0.847 -0.502 -0.674 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 44.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" ACVRL1 ICD10 I78: Diseases of capillaries EFO_0004264 1.38e-16 1.38 -16 188.22 oddsRatioConfidenceIntervalLower 651.619 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 8.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" GHRH Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 7.47e-13 7.47 -13 "" -0.45 -0.257 -0.354 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 58.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Arm predicted mass right (23122) EFO_0004302 2.59e-20 2.59 -20 "" 0.117 0.18 0.149 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCA1 Cholesterol (30690) EFO_0004574 5.749999999999999e-40 5.75 -40 "" -0.413 -0.306 -0.36 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 1139.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" KLF1 Mean corpuscular volume (30040) EFO_0004526 1.16e-22 1.16 -22 "" -0.74 -0.494 -0.617 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 197.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean corpuscular volume (30040) EFO_0004526 8.8e-232 8.8 -232 "" -3.069 -2.72 -2.894 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 98.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FLG Non cancer illness code self reported - eczema dermatitis EFO_0005319 8.47e-18 8.47 -18 1.703 oddsRatioConfidenceIntervalLower 1.923 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077853 331754 12790 331.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CD36 HDL cholesterol (30760) EFO_0004612 1.52e-21 1.52 -21 "" 0.109 0.166 0.138 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 3282.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGF2BP2 Standing height (50) EFO_0004339 3.12e-15 3.12 -15 "" -0.347 -0.209 -0.278 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 271.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MSH2 ICD10 Z08: Encounter for follow-up examination after completed treatment for malignant neoplasm EFO_0004542 7.14e-18 7.14 -18 15.2 oddsRatioConfidenceIntervalLower 28.235 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081200 387917 6079 22.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Leg fat free mass right (23113) EFO_0004995 5.76e-16 5.76 -16 "" -0.115 -0.07 -0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 2643.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LCORL Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 1.7e-15 1.7 -15 "" 0.272 0.45 0.361 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 69.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" STAB1 Total protein (30860) EFO_0004536 8.84e-13 8.84 -13 "" 0.117 0.205 0.161 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 1775.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CSF3R Neutrophil percentage (30200) EFO_0007990 2.54e-14 2.54 -14 "" 0.116 0.197 0.156 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 2141.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 Q61: Cystic kidney disease EFO_0008615 4.13e-75 4.13 -75 9.522 oddsRatioConfidenceIntervalLower 12.116 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 126.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Apolipoprotein B (30640) EFO_0004615 1.3700000000000001e-32 1.37 -32 "" 0.492 0.686 0.589 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 368.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SF3B1 Haemoglobin concentration (30020) EFO_0004509 1.64e-11 1.64 -11 "" -0.328 -0.18 -0.254 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 394.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 1.86e-18 1.86 -18 2.316 oddsRatioConfidenceIntervalLower 2.794 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 155.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CETP HDL cholesterol (30760) EFO_0004612 1.31e-96 1.31 -96 "" 0.759 0.916 0.837 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 437.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" KLHDC7B hearing loss (RGC) EFO_0004238 8.729999999999999e-28 8.73 -28 2.156 oddsRatioConfidenceIntervalLower 2.474 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 451.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHEK2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.04e-17 1.04 -17 1.732 oddsRatioConfidenceIntervalLower 1.964 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 329.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" JAK2 Platelet count (30080) EFO_0004309 1.5100000000000001e-27 1.51 -27 "" 0.619 0.891 0.755 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 159.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGFALS Whole body water mass (23102) EFO_0009805 1.82e-11 1.82 -11 "" -0.081 -0.044 -0.063 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 3693.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 I12.0: Hypertensive chronic kidney disease with stage 5 chronic kidney disease or end stage renal disease MONDO_0024633 1.5500000000000002e-26 1.55 -26 59.258 oddsRatioConfidenceIntervalLower 125.502 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079963 387930 1504 19.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" UGT1A6 Total bilirubin (30840) EFO_0004570 8.680000000000001e-56 8.68 -56 "" 0.358 0.46 0.409 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1272.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGF1R Trunk predicted mass (23130) EFO_0004324 2.55e-14 2.55 -14 "" -0.14 -0.083 -0.111 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 1485.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PRSS56 6mm weak meridian left (5097) EFO_0004731 1.02e-11 1.02 -11 "" 0.345 0.623 0.484 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 159.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TMPRSS6 Mean corpuscular haemoglobin (30050) EFO_0004527 3e-56 3.0 -56 "" -0.42 -0.327 -0.373 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1412.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOB Cholesterol (30690) EFO_0004574 4.97e-36 4.97 -36 "" -0.794 -0.579 -0.686 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 282.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" PAPPA2 Whole body water mass (23102) EFO_0009805 9.33e-12 9.33 -12 "" -0.295 -0.163 -0.229 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 285.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC22A12 Urate (30880) EFO_0004531 4.2399999999999996e-67 4.24 -67 "" -1.542 -1.228 -1.385 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 96.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CD36 Platelet crit (30090) EFO_0007985 6.26e-12 6.26 -12 "" -0.13 -0.072 -0.101 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 3610.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 6mm weak meridian right (5098) EFO_0004731 3.3e-16 3.3 -16 "" 0.569 0.928 0.749 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 95.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MEPE Heel bone mineral density BMD (3148) EFO_0009270 2.97e-12 2.97 -12 "" -0.328 -0.184 -0.256 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 576.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 Creatinine (30700) EFO_0004518 3.1500000000000004e-36 3.15 -36 "" 0.454 0.622 0.538 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 311.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TFR2 Glycated haemoglobin HbA1c (30750) EFO_0004541 2.06e-13 2.06 -13 "" -0.142 -0.082 -0.112 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 3307.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLG ChildhoodAsthmaCases vs AllergicDiseaseControls (RGC) MONDO_0005405 7.93e-28 7.93 -28 1.563 oddsRatioConfidenceIntervalLower 1.694 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081473 297425 16952 787.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 3mm weak meridian right (5099) EFO_0004731 3.69e-19 3.69 -19 "" 0.602 0.94 0.771 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 108.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 Mean reticulocyte volume (30260) EFO_0010701 6.49e-29 6.49 -29 "" -1.944 -1.363 -1.654 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 38.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TNRC6B Hand grip strength right (47) EFO_0006941 2.12e-11 2.12 -11 "" -0.636 -0.348 -0.492 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 83.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ABCB11 Alkaline phosphatase (30610) EFO_0004533 1.06e-23 1.06 -23 "" 0.475 0.706 0.591 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 224.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 2.36e-21 2.36 -21 4.625 oddsRatioConfidenceIntervalLower 6.346 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 72.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 Self Report - breast cancer (20001) EFO_0000305 5.05e-14 5.05 -14 4.909 oddsRatioConfidenceIntervalLower 7.427 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077626 39614 10070 81.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PRPH2 Eye problems disorders - Macular degeneration (6148) EFO_0009606 3.64e-18 3.64 -18 18.46 oddsRatioConfidenceIntervalLower 35.631 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079434 37798 4185 27.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LRP2 Urate (30880) EFO_0004531 1.19e-18 1.19 -18 "" 0.124 0.195 0.16 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 1875.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LCORL Leg predicted mass right (23114) EFO_0004302 2.9e-14 2.9 -14 "" 0.205 0.347 0.276 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 257.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC1R Ease of skin tanning - Never tan only burn (1727) EFO_0007009 2.02e-249 2.02 -249 2.772 oddsRatioConfidenceIntervalLower 2.941 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 2060.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SCUBE3 Trunk fat free mass (23129) EFO_0004995 3.96e-15 3.96 -15 "" -0.123 -0.074 -0.098 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 2062.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Whole body water mass (23102) EFO_0009805 5.8e-17 5.8 -17 "" -0.077 -0.048 -0.063 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 5845.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Basal metabolic rate (23105) EFO_0007777 6.33e-20 6.33 -20 "" -0.829 -0.536 -0.682 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 63.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GCKR Triglycerides (30870) EFO_0004530 4.2e-13 4.2 -13 "" 0.064 0.112 0.088 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 5531.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD2 Cystatin C (30720) EFO_0004617 2.67e-17 2.67 -17 "" 0.521 0.836 0.678 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 105.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RHAG Reticulocyte percentage (30240) EFO_0010700 6.51e-28 6.51 -28 "" 0.232 0.333 0.283 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1331.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK Glucose (30740) EFO_0004468 1.1999999999999999e-46 1.2 -46 "" 0.604 0.795 0.7 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 390.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EXD1 Standing height (50) EFO_0004339 5.85e-12 5.85 -12 "" -0.057 -0.032 -0.044 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 8218.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PCSK9 Apolipoprotein B (30640) EFO_0004615 1.82e-19 1.82 -19 "" -1.207 -0.776 -0.991 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 70.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" HBB Reticulocyte count (30250) EFO_0007986 7.53e-13 7.53 -13 "" 0.498 0.872 0.685 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9692 9692 99.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FLG Vitamin D (30890) EFO_0004631 7.74e-40 7.74 -40 "" 0.096 0.129 0.113 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 12731.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 3.32e-34 3.32 -34 13.448 oddsRatioConfidenceIntervalLower 20.421 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 47.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Immature reticulocyte fraction (30280) EFO_0010700 3.87e-16 3.87 -16 "" 0.601 0.982 0.792 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 96.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" KLF1 Mean corpuscular haemoglobin (30050) EFO_0004527 7.76e-21 7.76 -21 "" -1.156 -0.756 -0.956 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 75.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANGPTL3 Apolipoprotein B (30640) EFO_0004615 1.29e-15 1.29 -15 "" -0.226 -0.137 -0.182 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 1643.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SEC23B Mean reticulocyte volume (30260) EFO_0010701 5.96e-13 5.96 -13 "" -0.391 -0.224 -0.307 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 460.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NF1 Trunk predicted mass (23130) EFO_0004324 3.6e-12 3.6 -12 "" -0.341 -0.191 -0.266 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 217.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" EIF2AK1 Immature reticulocyte fraction (30280) EFO_0010700 7.32e-13 7.32 -13 "" 0.176 0.308 0.242 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 798.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LOXL2 Standing height (50) EFO_0004339 8.18e-12 8.18 -12 "" 0.05 0.09 0.07 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 3232.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET1 Standing height (50) EFO_0004339 2.26e-12 2.26 -12 "" 0.371 0.658 0.515 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 62.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CLDN10 Urea (30670) EFO_0009795 1.82e-11 1.82 -11 "" 0.436 0.795 0.616 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 101.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MLH1 ICD10 Z08: Encounter for follow-up examination after completed treatment for malignant neoplasm EFO_0004542 2.5699999999999997e-24 2.57 -24 47.121 oddsRatioConfidenceIntervalLower 98.975 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081200 387917 6079 20.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TMPRSS6 Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.75e-26 5.75 -26 "" 0.665 0.969 0.817 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 142.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CETP HDL cholesterol (30760) EFO_0004612 2.9600000000000002e-105 2.96 -105 "" 0.855 1.024 0.939 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 379.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 6mm strong meridian left (5134) EFO_0004731 3.64e-18 3.64 -18 "" 0.321 0.508 0.415 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079300 89735 89735 349.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IQGAP2 High light scatter reticulocyte percentage (30290) EFO_0010700 3.87e-12 3.87 -12 "" 0.125 0.223 0.174 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1400.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPHK1 Immature reticulocyte fraction (30280) EFO_0010700 9.67e-24 9.67 -24 "" -0.144 -0.097 -0.12 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 6363.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC22A11 Testosterone (30850) EFO_0004908 3.63e-12 3.63 -12 "" -0.085 -0.048 -0.066 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079042 373826 373826 3869.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SH2B3 Platelet crit (30090) EFO_0007985 3.13e-12 3.13 -12 "" 0.299 0.534 0.416 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 215.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 1.25e-11 1.25 -11 "" -2.233 -1.231 -1.732 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2106 2106 16.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 Ankle spacing width left (4100) EFO_0004324 4.6e-14 4.6 -14 "" 0.365 0.621 0.493 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079148 166283 166283 151.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TNFRSF13B Albumin (30600) EFO_0004535 2.37e-22 2.37 -22 "" 0.092 0.138 0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 6458.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LRP2 Creatinine (30700) EFO_0004518 1.78e-40 1.78 -40 "" -0.098 -0.073 -0.085 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 14558.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK OralDiabetes Med (RGC) EFO_0007010 7.06e-15 7.06 -15 5.159 oddsRatioConfidenceIntervalLower 7.798 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081503 320758 13132 40.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SH2B3 Platelet count (30080) EFO_0004309 5.25e-229 5.25 -229 "" 0.438 0.495 0.467 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 3695.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GFI1B Mean platelet thrombocyte volume (30100) EFO_0004584 1.3199999999999999e-45 1.32 -45 "" 0.997 1.317 1.157 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 143.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK TAG ProbableT2D (RGC) MONDO_0005148 1.74e-13 1.74 -13 11.192 oddsRatioConfidenceIntervalLower 21.279 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081526 426342 17719 21.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" TTN ICD10 I42.0: Dilated cardiomyopathy EFO_0000407 2.6400000000000003e-56 2.64 -56 14.177 oddsRatioConfidenceIntervalLower 19.695 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079998 387930 858 74.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MYO6 Hearing aid user - Yes (3393) EFO_0009720 1.63e-20 1.63 -20 6.19 oddsRatioConfidenceIntervalLower 9.095 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079053 281979 15741 52.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 1.98e-15 1.98 -15 5.696 oddsRatioConfidenceIntervalLower 8.75 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 41.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ALPL Alkaline phosphatase (30610) EFO_0004533 2.2300000000000002e-307 2.23 -307 "" -2.35 -2.243 -2.297 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 1050.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Body mass index BMI (21001) EFO_0004340 1.78e-26 1.78 -26 "" 0.231 0.335 0.283 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078684 429633 429633 1222.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Whole body fat mass (23100) EFO_0005409 2.08e-22 2.08 -22 "" 0.204 0.307 0.256 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078904 423023 423023 1199.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PTPN14 ICD10 C44.3: Other and unspecified malignant neoplasm of skin of other and unspecified parts of face EFO_0004198 2.09e-12 2.09 -12 9.788 oddsRatioConfidenceIntervalLower 18.491 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079596 387930 7572 19.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 Mothers age at death (3526) EFO_0007796 1.69e-13 1.69 -13 "" -0.146 -0.085 -0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 3771.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APC ICD10 D12.6: Benign neoplasm of colon, unspecified EFO_0002422 4.26e-26 4.26 -26 62.539 oddsRatioConfidenceIntervalLower 134.686 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079659 387930 2672 19.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" MYD88 Neutrophil percentage (30200) EFO_0007990 6.630000000000001e-26 6.63 -26 "" -1.009 -0.692 -0.851 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 137.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.89e-13 3.89 -13 "" -2.532 -1.456 -1.994 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 14.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGF1R Basal metabolic rate (23105) EFO_0007777 3.38e-19 3.38 -19 "" -0.476 -0.305 -0.39 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 185.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" BRCA1 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 2.15e-17 2.15 -17 2.732 oddsRatioConfidenceIntervalLower 3.447 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 103.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GPLD1 Alkaline phosphatase (30610) EFO_0004533 2.49e-16 2.49 -16 "" -0.963 -0.591 -0.777 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9849 9849 95.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Haematocrit percentage (30030) EFO_0004348 7.12e-15 7.12 -15 "" -0.178 -0.106 -0.142 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1794.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPTA1 Total bilirubin (30840) EFO_0004570 1.2500000000000001e-21 1.25 -21 "" 0.348 0.527 0.437 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 296.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Leg predicted mass right (23114) EFO_0004302 3e-15 3.0 -15 "" 0.245 0.407 0.326 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 197.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR ICD10 E78.0: Pure hypercholesterolemia HP_0003124 2.0899999999999997e-23 2.09 -23 3.709 oddsRatioConfidenceIntervalLower 4.799 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079766 378271 45730 112.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IQGAP2 Platelet count (30080) EFO_0004309 7.409999999999999e-23 7.41 -23 "" -0.157 -0.105 -0.131 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 4324.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Eosinophil count (30150) EFO_0004842 1.78e-26 1.78 -26 "" -0.436 -0.301 -0.369 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 710.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" PDE3B Comparative height size at age 10 - Taller (1697) EFO_0004339 5.57e-15 5.57 -15 1.478 oddsRatioConfidenceIntervalLower 1.631 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 702.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RASA3 Lymphocyte percentage (30180) EFO_0007993 8.21e-16 8.21 -16 "" -0.223 -0.136 -0.179 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 1744.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" DGAT2 Apolipoprotein A (30630) EFO_0004732 4.59e-15 4.59 -15 "" -0.196 -0.118 -0.157 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1797.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LIPG Apolipoprotein A (30630) EFO_0004732 5.529999999999999e-52 5.53 -52 "" 0.453 0.587 0.52 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 612.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TSHR Non cancer illness code self reported - hypothyroidism myxoedema EFO_1001055 6.920000000000001e-29 6.92 -29 2.576 oddsRatioConfidenceIntervalLower 3.042 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 220.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Leg fat free mass left (23117) EFO_0004995 4.59e-15 4.59 -15 "" -0.088 -0.053 -0.07 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 4403.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" COL27A1 Standing height (50) EFO_0004339 1.28e-12 1.28 -12 "" -0.389 -0.22 -0.305 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 182.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS17 Comparative height size at age 10 - Shorter (1697) EFO_0004339 5.83e-20 5.83 -20 1.415 oddsRatioConfidenceIntervalLower 1.525 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 1083.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 4.16e-21 4.16 -21 5.54 oddsRatioConfidenceIntervalLower 7.907 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 55.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HMCN1 FEV1 FVC ratio Z score (20258) EFO_0004713 4.04e-37 4.04 -37 "" 0.451 0.616 0.534 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 515.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LDLR Non cancer illness code self reported - high cholesterol HP_0003124 5.81e-15 5.81 -15 3.035 oddsRatioConfidenceIntervalLower 4.01 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 99.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" EML4 Impedance of whole body (23106) HP_0000924 1.55e-11 1.55 -11 "" -0.166 -0.091 -0.129 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 1376.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR ICD10 Z95.1: Presence of aortocoronary bypass graft EFO_0002571 3.87e-12 3.87 -12 6.511 oddsRatioConfidenceIntervalLower 11.051 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081420 387919 5314 25.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APOB Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 3.95e-21 3.95 -21 0.174 oddsRatioConfidenceIntervalLower 0.25 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 17.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FLG AsthmaCases vs AllergicDiseaseControls (RGC) MONDO_0004979 9.7e-18 9.7 -18 1.266 oddsRatioConfidenceIntervalLower 1.336 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081459 328314 47628 1808.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Eosinophil percentage (30210) EFO_0007991 1.92e-50 1.92 -50 "" -0.373 -0.287 -0.33 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 1791.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN ICD10 I50.9: Heart failure, unspecified EFO_0003144 1.41e-14 1.41 -14 2.985 oddsRatioConfidenceIntervalLower 3.943 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080022 387930 2407 71.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN ICD10 I50.1: Left ventricular failure, unspecified EFO_0003144 2.49e-17 2.49 -17 3.017 oddsRatioConfidenceIntervalLower 3.896 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080021 387725 4762 86.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CHEK2 DD Cancer - Yes (2453) EFO_0000311 6.82e-20 6.82 -20 1.458 oddsRatioConfidenceIntervalLower 1.581 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 804.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PROS1 VTE Composite CC (RGC) EFO_0003907 2.67e-15 2.67 -15 6.429 oddsRatioConfidenceIntervalLower 10.197 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081534 225913 5702 39.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GHSR IGF 1 (30770) EFO_0004627 1.49e-12 1.49 -12 "" -0.191 -0.108 -0.15 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1853.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 ICD10 I12: Hypertensive chronic kidney disease MONDO_0024633 2.34e-26 2.34 -26 17.783 oddsRatioConfidenceIntervalLower 30.244 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079964 387912 1660 30.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" PDE3B High light scatter reticulocyte count (30300) EFO_0007986 1.47e-15 1.47 -15 "" -0.206 -0.125 -0.165 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 2011.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Forced vital capacity FVC (3062) EFO_0004312 1.02e-13 1.02 -13 "" -0.127 -0.074 -0.1 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 2481.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PDE3B Seated height (51) EFO_0011011 1.05e-13 1.05 -13 "" 0.113 0.193 0.153 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 1214.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Impedance of whole body (23106) HP_0000924 6.12e-29 6.12 -29 "" 0.127 0.181 0.154 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 2644.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LDLR ICD10 I20: Angina pectoris EFO_0003913 4.51e-16 4.51 -16 2.069 oddsRatioConfidenceIntervalLower 2.466 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079968 386565 22332 178.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 Mean corpuscular volume (30040) EFO_0004526 1.4e-13 1.4 -13 "" -0.242 -0.14 -0.191 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1167.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PDE3B Triglycerides (30870) EFO_0004530 2.15e-60 2.15 -60 "" -0.373 -0.293 -0.333 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 2002.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 1.02e-15 1.02 -15 "" 0.323 0.532 0.427 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 50.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPTA1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.72e-47 1.72 -47 "" -0.755 -0.575 -0.665 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 364.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GOT1 Aspartate aminotransferase (30650) EFO_0004736 1.6999999999999999e-233 1.7 -233 "" -1.253 -1.111 -1.182 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 644.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Haemoglobin concentration (30020) EFO_0004509 5.62e-65 5.62 -65 "" -1.636 -1.298 -1.467 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CETP HDL cholesterol (30760) EFO_0004612 6.560000000000001e-103 6.56 -103 "" 0.596 0.715 0.656 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 761.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB Non cancer illness code self reported - high cholesterol HP_0003124 4.45e-12 4.45 -12 0.181 oddsRatioConfidenceIntervalLower 0.294 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 10.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IQGAP2 Albumin (30600) EFO_0004535 5.0599999999999996e-24 5.06 -24 "" -0.182 -0.123 -0.152 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 3938.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 2.23e-20 2.23 -20 4.664 oddsRatioConfidenceIntervalLower 6.463 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 58.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GHRH Standing height (50) EFO_0004339 5.72e-13 5.72 -13 "" -0.506 -0.29 -0.398 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 109.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SCUBE3 Trunk fat free mass (23129) EFO_0004995 1.02e-16 1.02 -16 "" -0.167 -0.103 -0.135 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 1216.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PDZK1 Urate (30880) EFO_0004531 7.14e-21 7.14 -21 "" -0.619 -0.405 -0.512 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 206.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACO1 Haemoglobin concentration (30020) EFO_0004509 4.09e-24 4.09 -24 "" 0.305 0.451 0.378 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 403.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ALPL Phosphate (30810) EFO_0010968 1.11e-11 1.11 -11 "" 0.537 0.973 0.755 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 71.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" ASXL1 Past tobacco smoking - I have never smoked (1249) EFO_0005671 5.47e-12 5.47 -12 0.616 oddsRatioConfidenceIntervalLower 0.707 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077586 397089 171084 273.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Leg predicted mass right (23114) EFO_0004302 2.9e-14 2.9 -14 "" 0.072 0.122 0.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 2067.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TYRP1 Ease of skin tanning - Get very tanned (1727) EFO_0007009 5e-20 5.0 -20 0.5 oddsRatioConfidenceIntervalLower 0.58 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 185.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" E2F4 Mean corpuscular volume (30040) EFO_0004526 4.66e-24 4.66 -24 "" 1.468 2.174 1.821 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 24.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHTF18 Mean sphered cell volume (30270) EFO_0004526 5.36e-12 5.36 -12 "" 0.091 0.163 0.127 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 2428.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ALPL Phosphate (30810) EFO_0010968 5.51e-46 5.51 -46 "" 0.741 0.978 0.859 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 241.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGFBP3 IGF 1 (30770) EFO_0004627 2.43e-33 2.43 -33 "" -0.503 -0.362 -0.432 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 624.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Whole body fat free mass (23101) EFO_0004995 6.52e-17 6.52 -17 "" -0.077 -0.048 -0.062 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 5845.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SHBG SHBG (30830) EFO_0004696 5.44e-12 5.44 -12 "" -1.23 -0.686 -0.958 "" SAS HANCESTRO_0006 UK Biobank 450k "" 8933 8933 38.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FOXA3 SHBG (30830) EFO_0004696 5.96e-15 5.96 -15 "" 0.249 0.416 0.332 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 376.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Mean platelet thrombocyte volume (30100) EFO_0004584 1.08e-15 1.08 -15 "" 0.121 0.199 0.16 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1794.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Comparative height size at age 10 - Shorter (1697) EFO_0004339 5.48e-12 5.48 -12 0.708 oddsRatioConfidenceIntervalLower 0.781 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 471.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NPR3 Standing height (50) EFO_0004339 2.85e-22 2.85 -22 "" 0.173 0.26 0.216 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 679.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Trunk fat free mass (23129) EFO_0004995 1.56e-16 1.56 -16 "" 0.222 0.36 0.291 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 257.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CHD2 ICD10 C91: Lymphoid leukemia EFO_0004289 1.08e-11 1.08 -11 10.317 oddsRatioConfidenceIntervalLower 20.224 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 16.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TNFRSF13B Mean corpuscular volume (30040) EFO_0004526 6.78e-15 6.78 -15 "" -0.102 -0.061 -0.081 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 7149.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GMPR Mean corpuscular volume (30040) EFO_0004526 4.29e-52 4.29 -52 "" 0.295 0.383 0.339 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1619.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Pulse rate (4194) EFO_0004326 6.910000000000001e-21 6.91 -21 "" 0.174 0.266 0.22 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079160 173103 173103 1734.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ASXL1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.0399999999999998e-23 1.04 -23 "" 0.153 0.228 0.191 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 2364.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" POLE Mean reticulocyte volume (30260) EFO_0010701 8.98e-17 8.98 -17 "" 0.165 0.267 0.216 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1240.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SCUBE3 Seated height (51) EFO_0011011 5.71e-16 5.71 -16 "" -0.158 -0.097 -0.127 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 2094.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ALPL Alkaline phosphatase (30610) EFO_0004533 8.28e-12 8.28 -12 "" -2.722 -1.509 -2.115 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8544 8544 10.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TMC8 Glycated haemoglobin HbA1c (30750) EFO_0004541 5.72e-15 5.72 -15 "" 0.105 0.175 0.14 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 2405.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PAPPA2 Arm predicted mass right (23122) EFO_0004302 1.25e-13 1.25 -13 "" -0.117 -0.068 -0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 2007.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 Mother still alive - Yes (1835) EFO_0007796 2.64e-18 2.64 -18 0.553 oddsRatioConfidenceIntervalLower 0.631 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077615 423687 167942 409.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CD36 Apolipoprotein A (30630) EFO_0004732 1.54e-14 1.54 -14 "" 0.178 0.3 0.239 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 742.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Leg fat free mass left (23117) EFO_0004995 1.74e-31 1.74 -31 "" 0.165 0.232 0.198 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TPM4 Platelet count (30080) EFO_0004309 8.69e-14 8.69 -14 "" -1.526 -0.891 -1.208 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 29.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" FLG Age hay fever rhinitis or eczema diagnosed (3761) EFO_0004847 6.22e-20 6.22 -20 "" -0.271 -0.176 -0.224 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079072 88602 88602 1529.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HMCN1 FEV1 FVC ratio Z score (20258) EFO_0004713 1.07e-11 1.07 -11 "" 0.324 0.586 0.455 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 202.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" RORC Gamma glutamyltransferase (30730) EFO_0004532 3.82e-40 3.82 -40 "" 0.181 0.244 0.213 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 2890.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NOTCH1 Lymphocyte count (30120) EFO_0004587 9.239999999999999e-30 9.24 -30 "" 1.279 1.813 1.546 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 47.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Arm predicted mass right (23122) EFO_0004302 8.410000000000001e-21 8.41 -21 "" -0.795 -0.52 -0.657 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 63.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CALR Haemoglobin concentration (30020) EFO_0004509 2.6e-16 2.6 -16 "" -0.901 -0.553 -0.727 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 71.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Body fat percentage (23099) EFO_0007800 9.17e-15 9.17 -15 "" 0.118 0.199 0.159 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078903 423464 423464 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - rosuvastatin EFO_0007010 7.76e-21 7.76 -21 10.762 oddsRatioConfidenceIntervalLower 17.698 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078225 320758 2905 31.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 ICD10 C78: Secondary malignant neoplasm of respiratory and digestive organs EFO_0009812 5.21e-32 5.21 -32 4.63 oddsRatioConfidenceIntervalLower 5.975 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079625 387835 6526 97.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UBR2 Leg fat mass right (23112) EFO_0005409 7.99e-12 7.99 -12 "" 0.307 0.553 0.43 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078915 423659 423659 141.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IRS1 Standing height (50) EFO_0004339 7.94e-25 7.94 -25 "" -0.593 -0.403 -0.498 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 145.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TFRC Mean sphered cell volume (30270) EFO_0004526 1.11e-15 1.11 -15 "" -0.989 -0.6 -0.794 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 84.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANGPTL4 HDL cholesterol (30760) EFO_0004612 1.27e-21 1.27 -21 "" 0.185 0.28 0.232 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1143.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 2.08e-15 2.08 -15 8.437 oddsRatioConfidenceIntervalLower 14.286 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 26.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" NF1 ICD10 D36: Benign neoplasm of other and unspecified sites EFO_0002422 2.7100000000000004e-26 2.71 -26 7.583 oddsRatioConfidenceIntervalLower 11.025 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079695 387660 899 49.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MLH1 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 1.41e-18 1.41 -18 13.137 oddsRatioConfidenceIntervalLower 23.319 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 25.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A1 ICD10 E80: Disorders of porphyrin and bilirubin metabolism Orphanet_309824 2.91e-15 2.91 -15 13.923 oddsRatioConfidenceIntervalLower 26.773 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079769 387166 614 18.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RNF20 Mean corpuscular volume (30040) EFO_0004526 8.3e-13 8.3 -13 "" -0.524 -0.299 -0.411 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 235.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANK1 Reticulocyte count (30250) EFO_0007986 3.55e-16 3.55 -16 "" 0.648 1.058 0.853 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 79.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" NF1 Neutrophil count (30140) EFO_0004833 1.16e-12 1.16 -12 "" 0.274 0.483 0.378 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 314.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TFRC Mean corpuscular haemoglobin concentration (30060) EFO_0004528 4.67e-16 4.67 -16 "" -1.037 -0.634 -0.835 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 87.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZNF12 IGF 1 (30770) EFO_0004627 1.86e-11 1.86 -11 "" 0.592 1.079 0.835 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 52.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" APC ICD10 Z83: Family history of other specific disorders EFO_0000493 4.36e-15 4.36 -15 18.592 oddsRatioConfidenceIntervalLower 38.592 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081343 376753 4125 16.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SHBG Heel bone mineral density BMD (3148) EFO_0009270 1.56e-12 1.56 -12 "" 0.071 0.126 0.099 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 4040.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FCGRT Albumin (30600) EFO_0004535 2.66e-14 2.66 -14 "" -1.844 -1.089 -1.467 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 24.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" IRS1 Arm predicted mass right (23122) EFO_0004302 1.2199999999999999e-23 1.22 -23 "" -0.568 -0.382 -0.475 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 140.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PIEZO1 Sitting height (20015) EFO_0011011 2.68e-18 2.68 -18 "" -0.077 -0.049 -0.063 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 8571.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IRS1 Leg fat free mass right (23113) EFO_0004995 4.75e-18 4.75 -18 "" -0.526 -0.332 -0.429 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 140.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RHAG Glycated haemoglobin HbA1c (30750) EFO_0004541 1.18e-50 1.18 -50 "" -1.03 -0.791 -0.91 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 207.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NFKBIE ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 3.9e-14 3.9 -14 34.001 oddsRatioConfidenceIntervalLower 84.781 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 11.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS17 Impedance of leg right (23107) HP_0000924 1.29e-13 1.29 -13 "" -0.159 -0.092 -0.125 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 2462.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Non cancer illness code self reported - atrial fibrillation EFO_0000275 1.17e-19 1.17 -19 3.466 oddsRatioConfidenceIntervalLower 4.534 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077881 331754 3921 81.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 ICD10 C79.5: Secondary malignant neoplasm of bone and bone marrow EFO_0009812 2.94e-16 2.94 -16 3.23 oddsRatioConfidenceIntervalLower 4.278 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079627 387930 3104 71.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TYRP1 Hair colour natural before greying - Blonde (1747) EFO_0007822 8.36e-26 8.36 -26 4.641 oddsRatioConfidenceIntervalLower 6.18 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 100.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACAN Leg fat free mass right (23113) EFO_0004995 1.89e-13 1.89 -13 "" -0.507 -0.294 -0.401 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 115.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CALR Red blood cell erythrocyte count (30010) EFO_0004305 8.28e-24 8.28 -24 "" -1.117 -0.753 -0.935 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 71.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APC ICD10 K31.7: Polyp of stomach and duodenum MONDO_0008277 1.7e-15 1.7 -15 16.091 oddsRatioConfidenceIntervalLower 31.887 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080210 387782 6198 18.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CAD Mean sphered cell volume (30270) EFO_0004526 1.23e-20 1.23 -20 "" 0.108 0.165 0.136 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 3894.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PLCD1 Sitting height (20015) EFO_0011011 4.43e-13 4.43 -13 "" -0.078 -0.045 -0.061 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 6847.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB Apolipoprotein B (30640) EFO_0004615 1.9700000000000002e-33 1.97 -33 "" -0.823 -0.593 -0.708 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 245.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" JAK2 Neutrophil percentage (30200) EFO_0007990 7.91e-12 7.91 -12 "" 0.099 0.179 0.139 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 2163.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS17 Comparative height size at age 10 - Taller (1697) EFO_0004339 7.85e-22 7.85 -22 0.681 oddsRatioConfidenceIntervalLower 0.736 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 784.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" S1PR4 White blood cell leukocyte count (30000) EFO_0004308 1.22e-11 1.22 -11 "" -0.266 -0.147 -0.207 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 954.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IHH Standing height (50) EFO_0004339 9.83e-13 9.83 -13 "" -0.749 -0.426 -0.588 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 50.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" SLC4A1 Reticulocyte count (30250) EFO_0007986 3.3e-39 3.3 -39 "" 1.681 2.272 1.977 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 38.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" COL4A4 Microalbumin in urine (30500) EFO_0010967 6.14e-12 6.14 -12 "" 0.45 0.808 0.629 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 115.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ASXL1 Pack years adult smoking as proportion of life span exposed to smoking (20162) EFO_0005671 6.27e-16 6.27 -16 "" 0.237 0.389 0.313 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078326 134156 134156 627.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 Smoking status - Never (20116) EFO_0006527 5.539999999999999e-23 5.54 -23 0.482 oddsRatioConfidenceIntervalLower 0.557 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078300 429255 232790 262.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF1R Standing height (50) EFO_0004339 2.3400000000000003e-27 2.34 -27 "" -0.234 -0.162 -0.198 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1009.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 6.48e-86 6.48 -86 "" -2.278 -1.865 -2.071 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9690 9690 99.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - ezetrol 10mg tablet EFO_0007010 5.31e-14 5.31 -14 16.972 oddsRatioConfidenceIntervalLower 35.486 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078227 320758 843 15.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGFBP6 IGF 1 (30770) EFO_0004627 5.25e-12 5.25 -12 "" -0.398 -0.222 -0.31 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 397.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PAPPA2 Trunk predicted mass (23130) EFO_0004324 2.5e-13 2.5 -13 "" -0.31 -0.179 -0.245 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 285.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 3mm strong meridian left (5135) EFO_0004731 7.2e-18 7.2 -18 "" 0.572 0.908 0.74 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079301 103531 103531 109.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ABCB4 Alanine aminotransferase (30620) EFO_0004735 2.88e-17 2.88 -17 "" 0.048 0.077 0.063 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 15754.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANKRD12 Usual walking pace - Slow pace (924) EFO_0008002 1.43e-11 1.43 -11 3.013 oddsRatioConfidenceIntervalLower 4.149 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079509 428255 34629 60.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.89e-13 3.89 -13 "" -2.532 -1.456 -1.994 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 14.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SIX6 MeanSphericalEquivalent 0 (RGC) EFO_0004731 2.17e-19 2.17 -19 "" -0.283 -0.182 -0.232 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081496 93186 93186 1318.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GMPR Reticulocyte count (30250) EFO_0007986 3.1199999999999997e-60 3.12 -60 "" 0.221 0.281 0.251 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 3714.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHTF18 Mean sphered cell volume (30270) EFO_0004526 2.63e-16 2.63 -16 "" 0.184 0.299 0.241 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 949.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Forced expiratory volume in 1 second FEV1 Best measure (20150) EFO_0004314 5.32e-12 5.32 -12 "" -0.107 -0.06 -0.083 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078316 322002 322002 3321.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MLH1 DD Cancer - Yes (2453) EFO_0000311 1.18e-15 1.18 -15 10.377 oddsRatioConfidenceIntervalLower 18.4 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 28.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GP1BB Mean platelet thrombocyte volume (30100) EFO_0004584 1.67e-58 1.67 -58 "" 1.648 2.104 1.876 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 52.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Arm fat free mass left (23125) EFO_0004995 7.98e-18 7.98 -18 "" -0.566 -0.356 -0.461 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 115.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.75e-114 1.75 -114 "" 1.941 2.307 2.124 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 98.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TMPRSS6 Haemoglobin concentration (30020) EFO_0004509 5.4e-23 5.4 -23 "" -0.466 -0.312 -0.389 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 361.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ALDH5A1 Alkaline phosphatase (30610) EFO_0004533 1.51e-24 1.51 -24 "" -0.135 -0.091 -0.113 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 6485.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - ezetimibe EFO_0007010 1.4399999999999997e-23 1.44 -23 15.813 oddsRatioConfidenceIntervalLower 27.157 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078226 320758 2675 29.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Arm predicted mass left (23126) EFO_0004302 7.3e-16 7.3 -16 "" -0.076 -0.046 -0.061 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 5843.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 2.26e-15 2.26 -15 "" -1.438 -0.868 -1.153 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8544 8544 41.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MPO Lymphocyte percentage (30180) EFO_0007993 4.74e-13 4.74 -13 "" -0.077 -0.044 -0.06 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 12702.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 Cystatin C (30720) EFO_0004617 9.49e-36 9.49 -36 "" 0.49 0.673 0.582 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 311.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LPA Lipoprotein A (30790) EFO_0006925 4.06e-16 4.06 -16 "" -0.459 -0.281 -0.37 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079034 329317 329317 483.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HOXB13 ICD10 Z85.4: Personal history of malignant neoplasm of genital organs EFO_0000616 1.05e-11 1.05 -11 2.561 oddsRatioConfidenceIntervalLower 3.358 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081350 387908 5672 73.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 High light scatter reticulocyte percentage (30290) EFO_0010700 9.28e-22 9.28 -22 "" 0.793 1.2 0.996 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 81.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SRSF2 Immature reticulocyte fraction (30280) EFO_0010700 1.57e-16 1.57 -16 "" 0.453 0.735 0.594 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 175.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Arm predicted mass right (23122) EFO_0004302 1.92e-13 1.92 -13 "" 0.188 0.325 0.256 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 257.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CHEK2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 2.78e-14 2.78 -14 2.252 oddsRatioConfidenceIntervalLower 2.775 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 122.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 3mm strong meridian right (5132) EFO_0004731 1.73e-16 1.73 -16 "" 0.598 0.971 0.784 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079298 103540 103540 89.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GIGYF1 Cystatin C (30720) EFO_0004617 3.68e-12 3.68 -12 "" 0.331 0.591 0.461 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 154.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CABIN1 Gamma glutamyltransferase (30730) EFO_0004532 1.66e-14 1.66 -14 "" -0.071 -0.042 -0.057 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 14685.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 High light scatter reticulocyte count (30300) EFO_0007986 4.21e-20 4.21 -20 "" 0.744 1.148 0.946 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 81.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" EDEM1 Alkaline phosphatase (30610) EFO_0004533 1.99e-24 1.99 -24 "" 0.25 0.369 0.31 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 837.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GIGYF1 LDL direct (30780) EFO_0004611 1.98e-16 1.98 -16 "" -0.763 -0.47 -0.616 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 153.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MYO6 hearing loss (RGC) EFO_0004238 6.06e-17 6.06 -17 1.555 oddsRatioConfidenceIntervalLower 1.725 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 699.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" G6PC Arm fat free mass right (23121) EFO_0004995 1.14e-11 1.14 -11 "" -0.128 -0.07 -0.099 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 1484.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC45A2 Skin colour - Very fair (1717) EFO_0003784 1.94e-37 1.94 -37 2.598 oddsRatioConfidenceIntervalLower 3.007 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 292.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SMAD6 Sitting height (20015) EFO_0011011 1.45e-12 1.45 -12 "" 0.085 0.151 0.118 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1584.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A3 Total bilirubin (30840) EFO_0004570 5.02e-61 5.02 -61 "" 0.44 0.559 0.499 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 935.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Hand grip strength right (47) EFO_0006941 9.69e-13 9.69 -13 "" -0.08 -0.045 -0.062 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 5940.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS17 Impedance of whole body (23106) HP_0000924 5.98e-13 5.98 -13 "" -0.325 -0.186 -0.255 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 394.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Haematocrit percentage (30030) EFO_0004348 2.15e-15 2.15 -15 "" -0.196 -0.118 -0.157 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1517.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" G6PC Creatinine (30700) EFO_0004518 5.25e-14 5.25 -14 "" -0.188 -0.11 -0.149 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 1452.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK DD DM - Yes (2443) EFO_0000400 1.2299999999999998e-23 1.23 -23 22.735 oddsRatioConfidenceIntervalLower 41.882 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078949 429739 22058 29.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GFI1B Mean platelet thrombocyte volume (30100) EFO_0004584 1.08e-151 1.08 -151 "" 0.638 0.741 0.689 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1027.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R Arm fat free mass left (23125) EFO_0004995 5.78e-17 5.78 -17 "" -0.249 -0.155 -0.202 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 568.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Body mass index BMI (21001) EFO_0004340 3.51e-16 3.51 -16 "" 0.404 0.659 0.532 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078684 429633 429633 202.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB High light scatter reticulocyte count (30300) EFO_0007986 2.49e-15 2.49 -15 "" 0.575 0.954 0.765 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9690 9690 99.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 DD Cancer - Yes (2453) EFO_0000311 7.86e-35 7.86 -35 2.518 oddsRatioConfidenceIntervalLower 2.917 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 274.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PRSS56 6mm weak meridian left (5097) EFO_0004731 1.02e-11 1.02 -11 "" 0.345 0.623 0.484 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 159.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Non cancer illness code self reported - atrial fibrillation/ICD10 I48 EFO_0000275 1.13e-12 1.13 -12 4.527 oddsRatioConfidenceIntervalLower 6.862 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077882 329052 3763 36.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" TTN ICD10 I48: Atrial fibrillation and flutter EFO_0000275 6.42e-32 6.42 -32 2.05 oddsRatioConfidenceIntervalLower 2.311 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080015 386856 20107 386.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOA1 Apolipoprotein A (30630) EFO_0004732 7.72e-14 7.72 -14 "" -2.411 -1.409 -1.91 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 11.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" SPTA1 Reticulocyte percentage (30240) EFO_0010700 2.9700000000000002e-58 2.97 -58 "" 0.7 0.894 0.797 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 365.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 9.36e-44 9.36 -44 3.148 oddsRatioConfidenceIntervalLower 3.702 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 242.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NPR2 Sitting height (20015) EFO_0011011 8.200000000000001e-22 8.2 -22 "" -0.21 -0.139 -0.174 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1332.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" E2F4 Mean corpuscular volume (30040) EFO_0004526 4.66e-24 4.66 -24 "" 1.468 2.174 1.821 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 24.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ATR Mean reticulocyte volume (30260) EFO_0010701 1.19e-18 1.19 -18 "" -0.162 -0.103 -0.133 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 3706.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCA1 HDL cholesterol (30760) EFO_0004612 5.13e-146 5.13 -146 "" -1.239 -1.064 -1.152 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 336.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z85.4: Personal history of malignant neoplasm of genital organs EFO_0000616 4.51e-14 4.51 -14 3.302 oddsRatioConfidenceIntervalLower 4.504 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081350 387908 5672 60.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPTA1 Reticulocyte count (30250) EFO_0007986 6.46e-13 6.46 -13 "" 0.53 0.927 0.729 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 85.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" PKD1 ICD10 N18: Chronic kidney disease (CKD) EFO_0003884 9.920000000000001e-43 9.92 -43 13.222 oddsRatioConfidenceIntervalLower 19.129 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080584 382843 10144 63.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" EIF2AK1 High light scatter reticulocyte count (30300) EFO_0007986 1.68e-11 1.68 -11 "" 0.157 0.285 0.221 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 798.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOB LDL direct (30780) EFO_0004611 2.2300000000000002e-307 2.23 -307 "" -1.778 -1.64 -1.709 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 699.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RASA2 Lymphocyte count (30120) EFO_0004587 5.35e-15 5.35 -15 "" -0.294 -0.176 -0.235 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 970.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CRISPLD1 Standing height (50) EFO_0004339 3.0999999999999997e-24 3.1 -24 "" -0.212 -0.144 -0.178 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1084.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SMAD6 3mm weak meridian right (5099) EFO_0004731 3.69e-19 3.69 -19 "" 0.602 0.94 0.771 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 108.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NPC1 Platelet distribution width (30110) EFO_0007984 1.66e-11 1.66 -11 "" 0.086 0.157 0.122 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 2745.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RUNX1 Platelet crit (30090) EFO_0007985 2.92e-13 2.92 -13 "" -1.582 -0.912 -1.247 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 26.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SMAD6 6mm weak meridian right (5098) EFO_0004731 3.3e-16 3.3 -16 "" 0.569 0.928 0.749 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 95.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MLH1 ICD10 Z08.0: Follow-up examination after surgery for malignant neoplasm (Z08.0) EFO_0004542 8.03e-19 8.03 -19 93.114 oddsRatioConfidenceIntervalLower 253.871 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081197 387930 4711 12.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" APC ICD10 Z86.0: Personal history of in-situ and benign neoplasms and neoplasms of uncertain behavior EFO_0000616 1.79e-18 1.79 -18 16.465 oddsRatioConfidenceIntervalLower 30.794 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081355 387929 6926 22.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" R3HDM4 High light scatter reticulocyte percentage (30290) EFO_0010700 4.99e-12 4.99 -12 "" 0.345 0.618 0.481 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 181.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GLI3 Standing height (50) EFO_0004339 6.06e-15 6.06 -15 "" 0.03 0.05 0.04 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 13258.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TUBB1 Platelet count (30080) EFO_0004309 1.4800000000000001e-105 1.48 -105 "" -1.055 -0.881 -0.968 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 382.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MPL Platelet count (30080) EFO_0004309 5.9e-19 5.9 -19 "" 0.323 0.506 0.415 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 355.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GOT1 Aspartate aminotransferase (30650) EFO_0004736 2.95e-299 2.95 -299 "" -1.685 -1.516 -1.601 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 451.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GCK ICD10 E11.9: Type 2 diabetes mellitus without complications MONDO_0005148 3.9000000000000004e-27 3.9 -27 4.599 oddsRatioConfidenceIntervalLower 6.068 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079741 385838 26590 93.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R Sitting height (20015) EFO_0011011 2.9e-24 2.9 -24 "" -0.335 -0.227 -0.281 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 575.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 1.92e-22 1.92 -22 4.112 oddsRatioConfidenceIntervalLower 5.464 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 79.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Pulse rate (4194) EFO_0004326 6.85e-14 6.85 -14 "" 0.112 0.191 0.151 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079160 173103 173103 2342.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPTB Mean sphered cell volume (30270) EFO_0004526 5.02e-12 5.02 -12 "" -0.122 -0.068 -0.095 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 4411.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TYR Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 2.08e-12 2.08 -12 0.838 oddsRatioConfidenceIntervalLower 0.881 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 2583.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" WNT1 Heel broadband ultrasound attenuation left (4101) EFO_0004514 1.16e-11 1.16 -11 "" -0.593 -0.327 -0.46 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079149 166276 166276 167.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Pulse rate automated reading (102) EFO_0004326 5.37e-34 5.37 -34 "" 0.131 0.182 0.157 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 5669.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 4.33e-21 4.33 -21 5.147 oddsRatioConfidenceIntervalLower 7.237 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 54.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD2 ICD10 Q61: Cystic kidney disease EFO_0008615 1.01e-34 1.01 -34 514.818 oddsRatioConfidenceIntervalLower 1393.35 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 15.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" WNT1 Heel bone mineral density BMD left (4105) EFO_0009270 2.15e-13 2.15 -13 "" -0.635 -0.367 -0.501 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079152 166186 166186 167.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ARHGAP18 Mean platelet thrombocyte volume (30100) EFO_0004584 1.84e-11 1.84 -11 "" 0.23 0.419 0.325 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 302.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HNF1A TAG ProbableT2D (RGC) MONDO_0005148 1.15e-11 1.15 -11 7.193 oddsRatioConfidenceIntervalLower 12.716 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081526 426342 17719 23.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" COL4A4 Urate (30880) EFO_0004531 1.02e-14 1.02 -14 "" 0.173 0.291 0.232 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 683.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 5.33e-20 5.33 -20 2.859 oddsRatioConfidenceIntervalLower 3.58 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 108.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGFBP3 IGF 1 (30770) EFO_0004627 1.64e-13 1.64 -13 "" -0.531 -0.308 -0.419 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 249.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RHAG High light scatter reticulocyte count (30300) EFO_0007986 2.12e-26 2.12 -26 "" 0.565 0.821 0.693 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 203.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IHH Standing height (50) EFO_0004339 4.6e-31 4.6 -31 "" -0.307 -0.218 -0.263 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 660.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ABCG5 Cholesterol (30690) EFO_0004574 1.59e-11 1.59 -11 "" 0.198 0.36 0.279 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 494.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 5.9299999999999996e-89 5.93 -89 "" -1.766 -1.451 -1.609 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 125.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CRISPLD1 Standing height (50) EFO_0004339 3.0999999999999997e-24 3.1 -24 "" -0.212 -0.144 -0.178 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1084.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RNF20 Mean corpuscular haemoglobin (30050) EFO_0004527 5.63e-13 5.63 -13 "" -0.527 -0.302 -0.414 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 235.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACVR1C Birth weight (20022) EFO_0004344 2.2800000000000002e-29 2.28 -29 "" 0.245 0.348 0.296 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078251 247016 247016 1353.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IRS1 Arm fat free mass right (23121) EFO_0004995 1.27e-22 1.27 -22 "" -0.559 -0.372 -0.466 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 140.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOA1 Apolipoprotein A (30630) EFO_0004732 1.22e-33 1.22 -33 "" -1.62 -1.168 -1.394 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 54.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LPL HDL cholesterol (30760) EFO_0004612 5.45e-38 5.45 -38 "" -0.477 -0.351 -0.414 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 658.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NOTCH1 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 1.1100000000000001e-32 1.11 -32 306.222 oddsRatioConfidenceIntervalLower 785.793 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 17.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Arm predicted mass left (23126) EFO_0004302 6.97e-24 6.97 -24 "" 0.117 0.173 0.145 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 1594.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RRM2 Mean corpuscular volume (30040) EFO_0004526 1.92e-11 1.92 -11 "" 0.302 0.551 0.426 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 193.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Reticulocyte count (30250) EFO_0007986 1.25e-18 1.25 -18 "" 0.152 0.239 0.196 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1754.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FANCA Hair colour natural before greying - Red (1747) EFO_0007822 1.88e-15 1.88 -15 0.374 oddsRatioConfidenceIntervalLower 0.476 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 47.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS3 Impedance of arm left (23110) HP_0000924 1.3e-14 1.3 -14 "" -0.136 -0.081 -0.109 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 2184.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A8 Total bilirubin (30840) EFO_0004570 2.14e-54 2.14 -54 "" 0.416 0.537 0.477 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 911.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACAN Whole body fat free mass (23101) EFO_0004995 2.14e-18 2.14 -18 "" -0.909 -0.577 -0.743 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 44.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" EGFL8 Non cancer illness code self reported - psoriasis/ICD10 L40 EFO_0000676 2.01e-16 2.01 -16 2.43 oddsRatioConfidenceIntervalLower 3.002 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077856 329052 4381 116.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CETP HDL cholesterol (30760) EFO_0004612 5.41e-17 5.41 -17 "" 0.546 0.88 0.713 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 97.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 Illnesses of siblings - Breast cancer (20111) EFO_0009640 1.46e-13 1.46 -13 3.314 oddsRatioConfidenceIntervalLower 4.554 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 59.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LCORL Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 5.99e-15 5.99 -15 "" 0.246 0.411 0.329 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 80.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A4 Direct bilirubin (30660) EFO_0004570 6.69e-26 6.69 -26 "" 0.214 0.312 0.263 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1338.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PAPPA2 Trunk fat free mass (23129) EFO_0004995 2.87e-13 2.87 -13 "" -0.311 -0.179 -0.245 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 285.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR ICD10 Z82.4: Family history of ischemic heart disease and other diseases of the circulatory system EFO_0000493 2.09e-11 2.09 -11 1.598 oddsRatioConfidenceIntervalLower 1.833 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081337 340245 43852 284.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CALR Mean platelet thrombocyte volume (30100) EFO_0004584 1.21e-14 1.21 -14 "" -0.968 -0.576 -0.772 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 71.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC22A12 Urate (30880) EFO_0004531 3.9199999999999997e-54 3.92 -54 "" -1.53 -1.186 -1.358 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 80.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" POLE Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.24e-12 2.24 -12 "" 0.076 0.135 0.105 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3802.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GHSR IGF 1 (30770) EFO_0004627 1.49e-12 1.49 -12 "" -0.191 -0.108 -0.15 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1853.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Leg fat free mass right (23113) EFO_0004995 1.68e-15 1.68 -15 "" 0.25 0.413 0.331 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 197.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CST3 Cystatin C (30720) EFO_0004617 2.2300000000000002e-307 2.23 -307 "" -2.847 -2.604 -2.726 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 189.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF1R Leg fat free mass left (23117) EFO_0004995 4.01e-19 4.01 -19 "" -0.203 -0.13 -0.167 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 995.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RTEL1 Mean corpuscular haemoglobin (30050) EFO_0004527 8.71e-18 8.71 -18 "" 0.139 0.222 0.181 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1760.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GHRH Trunk fat free mass (23129) EFO_0004995 1.9e-15 1.9 -15 "" -0.467 -0.282 -0.375 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 143.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GNB1 Neutrophil percentage (30200) EFO_0007990 2.37e-17 2.37 -17 "" 0.354 0.567 0.461 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 304.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I48: Atrial fibrillation and flutter EFO_0000275 1.12e-36 1.12 -36 2.558 oddsRatioConfidenceIntervalLower 2.959 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080015 386856 20107 280.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Impedance of arm right (23109) HP_0000924 2.32e-12 2.32 -12 "" -0.192 -0.108 -0.15 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACY1 IGF 1 (30770) EFO_0004627 7.8e-18 7.8 -18 "" 0.086 0.137 0.112 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 4753.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LRP5 Heel bone mineral density BMD T score automated (78) EFO_0009270 9.82e-14 9.82 -14 "" -0.76 -0.443 -0.601 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 120.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A9 Direct bilirubin (30660) EFO_0004570 3.24e-16 3.24 -16 "" 0.302 0.492 0.397 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 352.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 Platelet distribution width (30110) EFO_0007984 4.9100000000000005e-64 4.91 -64 "" 0.397 0.502 0.45 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1167.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC4A1 Mean corpuscular haemoglobin (30050) EFO_0004527 1.49e-11 1.49 -11 "" 0.463 0.841 0.652 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 83.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 Speed of sound through heel (3146) EFO_0005654 1.79e-12 1.79 -12 "" -0.547 -0.309 -0.428 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 215.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IQGAP2 Mean platelet thrombocyte volume (30100) EFO_0004584 2.12e-61 2.12 -61 "" 0.238 0.302 0.27 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 2705.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PTPRH Platelet crit (30090) EFO_0007985 7.9e-19 7.9 -19 "" -0.246 -0.157 -0.201 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 1477.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" DNMT3A Eosinophil percentage (30210) EFO_0007991 1.47e-16 1.47 -16 "" -0.135 -0.083 -0.109 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 5068.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" WNT1 Speed of sound through heel left (4103) EFO_0005654 1.39e-12 1.39 -12 "" -0.626 -0.355 -0.49 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079150 166283 166283 167.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 1.7300000000000001e-29 1.73 -29 4.808 oddsRatioConfidenceIntervalLower 6.317 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 88.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 1.44e-38 1.44 -38 4.155 oddsRatioConfidenceIntervalLower 5.151 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 136.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FLCN ICD10 J93: Pneumothorax and air leak MONDO_0002076 2.38e-13 2.38 -13 17.59 oddsRatioConfidenceIntervalLower 37.883 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080153 387375 1190 14.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PKD1 ICD10 Q61: Cystic kidney disease EFO_0008615 2.8400000000000003e-129 2.84 -129 47.614 oddsRatioConfidenceIntervalLower 65.113 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 104.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ALB Cholesterol (30690) EFO_0004574 1.39e-16 1.39 -16 "" 0.476 0.772 0.624 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 147.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Arm fat percentage right (23119) EFO_0007800 5.5e-22 5.5 -22 "" 0.178 0.269 0.224 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078922 423608 423608 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 4.73e-25 4.73 -25 7.517 oddsRatioConfidenceIntervalLower 11.019 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 48.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IRS1 Sitting height (20015) EFO_0011011 7.94e-16 7.94 -16 "" -0.553 -0.337 -0.445 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 145.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MLH1 ICD10 Z08: Encounter for follow-up examination after completed treatment for malignant neoplasm EFO_0004542 3e-17 3.0 -17 68.904 oddsRatioConfidenceIntervalLower 183.992 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081200 387917 6079 12.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 1.25e-11 1.25 -11 "" -2.233 -1.231 -1.732 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2106 2106 16.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I48: Atrial fibrillation and flutter EFO_0000275 3.95e-25 3.95 -25 1.771 oddsRatioConfidenceIntervalLower 1.974 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080015 386856 20107 452.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TMPRSS6 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 1.58e-13 1.58 -13 "" -0.472 -0.274 -0.373 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 361.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD1 ICD10 N18.9: Chronic kidney disease, unspecified EFO_0003884 9.25e-36 9.25 -36 19.717 oddsRatioConfidenceIntervalLower 31.488 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080583 387930 3916 41.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 Smoking status - Current (20116) EFO_0006527 1.9699999999999998e-38 1.97 -38 2.757 oddsRatioConfidenceIntervalLower 3.215 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078302 429255 45239 265.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NPR2 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 1.27e-11 1.27 -11 "" -0.556 -0.307 -0.431 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 35.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR DD vascular heart problems - Angina (6150) EFO_0003913 1.29e-14 1.29 -14 2.334 oddsRatioConfidenceIntervalLower 2.895 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079443 129643 14103 132.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK Metformin Med (RGC) EFO_0007010 1.71e-11 1.71 -11 13.939 oddsRatioConfidenceIntervalLower 30.025 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081499 320758 12065 15.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MSH6 Type of Cancer: Malignant neoplasm of corpus uteri (40006) EFO_0007532 6.2300000000000004e-27 6.23 -27 15.428 oddsRatioConfidenceIntervalLower 25.413 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079110 41005 1612 38.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ITGA2B Platelet count (30080) EFO_0004309 1.3e-20 1.3 -20 "" -0.567 -0.37 -0.469 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 300.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ALB Apolipoprotein B (30640) EFO_0004615 4.1e-25 4.1 -25 "" 0.633 0.929 0.781 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 146.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Sitting height (20015) EFO_0011011 5.31e-18 5.31 -18 "" 0.35 0.555 0.452 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 161.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IRS1 Whole body fat free mass (23101) EFO_0004995 1.0499999999999999e-23 1.05 -23 "" -0.574 -0.386 -0.48 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 140.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - atorvastatin EFO_0007010 1.9799999999999997e-48 1.98 -48 3.465 oddsRatioConfidenceIntervalLower 4.093 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078178 320758 16654 229.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANGPTL7 3mm strong meridian left (5135) EFO_0004731 1.26e-12 1.26 -12 "" 0.108 0.19 0.149 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079301 103531 103531 1843.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS17 Comparative height size at age 10 - Taller (1697) EFO_0004339 1.46e-19 1.46 -19 0.624 oddsRatioConfidenceIntervalLower 0.691 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 442.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TMPRSS6 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.07e-13 2.07 -13 "" -0.21 -0.121 -0.166 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 1822.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NOTCH1 ICD10 C91: Lymphoid leukemia EFO_0004289 1.4900000000000001e-33 1.49 -33 258.404 oddsRatioConfidenceIntervalLower 636.738 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 18.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TPM4 Mean platelet thrombocyte volume (30100) EFO_0004584 1.75e-18 1.75 -18 "" 1.066 1.68 1.373 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 29.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TET2 Haemoglobin concentration (30020) EFO_0004509 9.84e-13 9.84 -13 "" -0.161 -0.092 -0.126 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1794.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Haemoglobin concentration (30020) EFO_0004509 4.27e-13 4.27 -13 "" -0.164 -0.094 -0.129 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1779.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A9 Total bilirubin (30840) EFO_0004570 1.67e-15 1.67 -15 "" 0.32 0.529 0.425 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9811 9811 341.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EIF2AK1 High light scatter reticulocyte percentage (30290) EFO_0010700 2.01e-11 2.01 -11 "" 0.307 0.56 0.434 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 209.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IRS1 Trunk fat free mass (23129) EFO_0004995 1.9e-25 1.9 -25 "" -0.593 -0.405 -0.499 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 140.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Forced expiratory volume in 1 second FEV1 (3063) EFO_0004314 2.76e-15 2.76 -15 "" 0.053 0.087 0.07 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079017 395451 395451 6256.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Eosinophil percentage (30210) EFO_0007991 1.61e-50 1.61 -50 "" -0.375 -0.288 -0.332 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 1777.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PDE11A IGF 1 (30770) EFO_0004627 1.65e-11 1.65 -11 "" 0.038 0.069 0.053 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 13039.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANKRD12 Red blood cell erythrocyte count (30010) EFO_0004305 1.18e-12 1.18 -12 "" 0.227 0.401 0.314 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 312.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GGT1 Gamma glutamyltransferase (30730) EFO_0004532 4.91e-68 4.91 -68 "" -0.339 -0.27 -0.304 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 2506.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OCA2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 1.21e-14 1.21 -14 0.396 oddsRatioConfidenceIntervalLower 0.501 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 83.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" KALRN Platelet count (30080) EFO_0004309 6.49e-13 6.49 -13 "" 0.105 0.184 0.145 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1893.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GP1BB Platelet count (30080) EFO_0004309 2.85e-44 2.85 -44 "" -1.92 -1.447 -1.683 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 52.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GP1BA Mean platelet thrombocyte volume (30100) EFO_0004584 6.460000000000001e-47 6.46 -47 "" 1.114 1.465 1.29 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 89.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 Mother still alive - Yes (1835) EFO_0007796 1.66e-13 1.66 -13 0.597 oddsRatioConfidenceIntervalLower 0.685 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077615 423687 167942 408.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS17 Impedance of arm right (23109) HP_0000924 1.16e-14 1.16 -14 "" -0.128 -0.076 -0.102 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 2461.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 5.81e-16 5.81 -16 "" 1.517 2.486 2.001 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 10.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" HBB High light scatter reticulocyte count (30300) EFO_0007986 2.49e-15 2.49 -15 "" 0.575 0.954 0.765 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9690 9690 99.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CHEK2 White blood cell leukocyte count (30000) EFO_0004308 6.38e-18 6.38 -18 "" 0.094 0.15 0.122 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 5041.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 6.53e-227 6.53 -227 "" -3.038 -2.689 -2.863 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 98.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TUBB1 Platelet count (30080) EFO_0004309 1.4800000000000001e-105 1.48 -105 "" -1.055 -0.881 -0.968 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 382.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MEN1 ICD10 E21.0: Primary hyperparathyroidism EFO_0008519 1.1e-14 1.1 -14 434.988 oddsRatioConfidenceIntervalLower 2031.21 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079751 387930 643 6.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" KLF1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 6.29e-14 6.29 -14 "" -0.575 -0.337 -0.456 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 250.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB High light scatter reticulocyte percentage (30290) EFO_0010700 5.38e-13 5.38 -13 "" 0.502 0.876 0.689 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 96.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" G6PC2 Glucose (30740) EFO_0004468 1.4900000000000001e-43 1.49 -43 "" -0.295 -0.221 -0.258 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 2689.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PRPH2 Eye problems disorders - Macular degeneration (6148) EFO_0009606 7.78e-13 7.78 -13 43.337 oddsRatioConfidenceIntervalLower 121.513 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079434 37798 4185 15.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" DGAT2 Total bilirubin (30840) EFO_0004570 2.47e-13 2.47 -13 "" 0.075 0.13 0.103 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 3166.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LIPG Apolipoprotein A (30630) EFO_0004732 6.559999999999999e-23 6.56 -23 "" 0.6 0.899 0.75 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 124.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SUPT5H Red blood cell erythrocyte distribution width (30070) EFO_0009188 7.18e-15 7.18 -15 "" 0.999 1.671 1.335 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 29.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" JAK2 ICD10 D75: Other and unspecified diseases of blood and blood-forming organs EFO_0005803 3.29e-64 3.29 -64 15.201 oddsRatioConfidenceIntervalLower 20.835 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079719 387036 993 79.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SCARB1 HDL cholesterol (30760) EFO_0004612 3.35e-117 3.35 -117 "" 0.379 0.45 0.415 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 2078.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PIEZO1 High light scatter reticulocyte percentage (30290) EFO_0010700 4.27e-17 4.27 -17 "" 0.04 0.064 0.052 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 23926.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS10 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 2.15e-11 2.15 -11 "" -0.172 -0.094 -0.133 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 357.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TFRC Mean corpuscular haemoglobin (30050) EFO_0004527 1.82e-44 1.82 -44 "" -1.616 -1.219 -1.418 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 76.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Whole body fat free mass (23101) EFO_0004995 2.49e-25 2.49 -25 "" 0.156 0.228 0.192 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 935.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SPTB ICD10 D73: Diseases of spleen EFO_0009002 2.3e-14 2.3 -14 48.833 oddsRatioConfidenceIntervalLower 132.537 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079718 387896 692 10.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 Ever smoked - Yes (20160) EFO_0006527 6.19e-20 6.19 -20 1.851 oddsRatioConfidenceIntervalLower 2.112 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078324 429301 263214 934.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PIEZO1 Arm fat free mass right (23121) EFO_0004995 1.03e-12 1.03 -12 "" -0.033 -0.019 -0.026 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 24585.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Standing height (50) EFO_0004339 2.32e-19 2.32 -19 "" 0.659 1.026 0.843 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 38.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" ASXL1 ICD10 F17.1: Mental and behavioural disorders due to use of tobacco, harmful use (F17.1) EFO_0000677 2.23e-15 2.23 -15 2.505 oddsRatioConfidenceIntervalLower 3.144 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079794 387930 14902 106.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 ICD10 C92: Myeloid leukemia EFO_0002427 5.68e-16 5.68 -16 15.451 oddsRatioConfidenceIntervalLower 29.977 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 18.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" SLC4A1 High light scatter reticulocyte count (30300) EFO_0007986 4.21e-20 4.21 -20 "" 0.744 1.148 0.946 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 81.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PIEZO1 ICD10 I83.9: Asymptomatic varicose veins of lower extremities HP_0002619 2.19e-12 2.19 -12 2.81 oddsRatioConfidenceIntervalLower 3.749 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080065 387815 11767 67.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IFRD2 High light scatter reticulocyte percentage (30290) EFO_0010700 3.96e-87 3.96 -87 "" 0.195 0.238 0.217 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 7383.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LRP2 Creatinine (30700) EFO_0004518 3.4199999999999996e-23 3.42 -23 "" -0.387 -0.259 -0.323 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 541.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" ACAN Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 2.85e-24 2.85 -24 "" -0.697 -0.472 -0.584 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 43.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACSF3 Skin colour - Light olive (1717) EFO_0003784 9.6e-12 9.6 -12 0.814 oddsRatioConfidenceIntervalLower 0.864 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 1409.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR Non cancer illness code self reported - high cholesterol HP_0003124 5.81e-15 5.81 -15 3.035 oddsRatioConfidenceIntervalLower 4.01 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 99.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 3.14e-20 3.14 -20 4.628 oddsRatioConfidenceIntervalLower 6.411 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 58.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SRSF2 ICD10 D70: Neutropenia MONDO_0001475 6.149999999999999e-28 6.15 -28 17.495 oddsRatioConfidenceIntervalLower 29.19 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079716 387075 4407 33.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CSF2RB Eosinophil count (30150) EFO_0004842 2.98e-35 2.98 -35 "" -0.524 -0.381 -0.452 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 642.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SSTR5 IGF 1 (30770) EFO_0004627 1.44e-25 1.44 -25 "" 0.152 0.223 0.187 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 2497.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZNF770 SHBG (30830) EFO_0004696 1.47e-13 1.47 -13 "" 0.326 0.561 0.443 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 189.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PDE3B Standing height (50) EFO_0004339 1.02e-13 1.02 -13 "" 0.091 0.156 0.123 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1214.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GIGYF1 ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 1.97e-11 1.97 -11 4.551 oddsRatioConfidenceIntervalLower 7.086 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 37.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EGLN1 Haematocrit percentage (30030) EFO_0004348 1.03e-14 1.03 -14 "" 0.484 0.812 0.648 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 85.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" POR Tea intake (1488) EFO_0010091 8.4e-20 8.4 -20 "" -0.11 -0.071 -0.091 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077587 417958 417958 9180.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL6A1 Corneal resistance factor right (5257) EFO_0010067 3.24e-30 3.24 -30 "" -1.453 -1.028 -1.24 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079336 105888 105888 75.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANGPTL2 Standing height (50) EFO_0004339 1.07e-17 1.07 -17 "" -0.145 -0.091 -0.118 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1769.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GP1BA Mean platelet thrombocyte volume (30100) EFO_0004584 3.48e-112 3.48 -112 "" 0.579 0.689 0.634 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 900.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TFRC Mean corpuscular volume (30040) EFO_0004526 1.35e-39 1.35 -39 "" -1.533 -1.136 -1.334 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 76.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LIPG Apolipoprotein A (30630) EFO_0004732 8.29e-33 8.29 -33 "" 0.258 0.359 0.309 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1074.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LIPG Apolipoprotein A (30630) EFO_0004732 8.29e-33 8.29 -33 "" 0.258 0.359 0.309 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1074.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 3mm strong meridian left (5135) EFO_0004731 3.2e-15 3.2 -15 "" 0.265 0.44 0.352 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079301 103531 103531 404.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 3mm strong meridian left (5135) EFO_0004731 3.2e-15 3.2 -15 "" 0.265 0.44 0.352 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079301 103531 103531 404.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANKRD12 Lymphocyte count (30120) EFO_0004587 1.22e-11 1.22 -11 "" -0.462 -0.255 -0.359 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 312.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PAPPA2 Arm fat free mass left (23125) EFO_0004995 8.22e-12 8.22 -12 "" -0.126 -0.07 -0.098 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 1620.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CETP Apolipoprotein B (30640) EFO_0004615 4.82e-13 4.82 -13 "" -0.294 -0.169 -0.231 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 816.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A7 Total bilirubin (30840) EFO_0004570 3.15e-15 3.15 -15 "" 0.318 0.529 0.424 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9811 9811 336.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 ICD10 I12: Hypertensive chronic kidney disease MONDO_0024633 7.3e-29 7.3 -29 58.416 oddsRatioConfidenceIntervalLower 119.427 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079964 387912 1660 21.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" TERT Mean corpuscular haemoglobin (30050) EFO_0004527 2.58e-17 2.58 -17 "" 0.362 0.58 0.471 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 250.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A9 Total bilirubin (30840) EFO_0004570 9.240000000000001e-32 9.24 -32 "" 0.464 0.651 0.558 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 379.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOB Alkaline phosphatase (30610) EFO_0004533 3.57e-15 3.57 -15 "" -0.328 -0.197 -0.262 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 700.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" EPB42 Glycated haemoglobin HbA1c (30750) EFO_0004541 4.53e-12 4.53 -12 "" -0.313 -0.175 -0.244 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 611.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 8.38e-20 8.38 -20 7.601 oddsRatioConfidenceIntervalLower 11.761 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 36.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" JAK2 Platelet crit (30090) EFO_0007985 4.07e-39 4.07 -39 "" 0.263 0.355 0.309 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 1387.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SMAD6 3mm weak meridian right (5099) EFO_0004731 1.62e-18 1.62 -18 "" 0.313 0.492 0.402 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 383.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean corpuscular volume (30040) EFO_0004526 8.8e-232 8.8 -232 "" -3.069 -2.72 -2.894 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 98.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" DHCR7 Vitamin D (30890) EFO_0004631 2.54e-14 2.54 -14 "" 0.082 0.139 0.111 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 4520.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SHOX Standing height (50) EFO_0004339 3.24e-23 3.24 -23 "" -1.31 -0.878 -1.094 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 27.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" STC2 Trunk fat free mass (23129) EFO_0004995 7.67e-26 7.67 -26 "" 0.097 0.142 0.119 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 2488.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PIEZO1 Arm fat free mass left (23125) EFO_0004995 2.53e-13 2.53 -13 "" -0.035 -0.02 -0.028 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 24585.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Arm fat free mass left (23125) EFO_0004995 5.05e-13 5.05 -13 "" 0.316 0.551 0.433 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 92.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PFKM Haemoglobin concentration (30020) EFO_0004509 1.44e-16 1.44 -16 "" 0.111 0.18 0.146 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1808.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Whole body fat free mass (23101) EFO_0004995 8.5e-19 8.5 -19 "" -0.568 -0.362 -0.465 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 115.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ASXL1 Past tobacco smoking - Smoked on most or all days (1249) EFO_0005671 4.71e-15 4.71 -15 1.686 oddsRatioConfidenceIntervalLower 1.922 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077585 397089 109016 461.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" KDM5B Mean time to correctly identify matches (20023) EFO_0008354 1.75e-15 1.75 -15 "" 0.346 0.572 0.459 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078252 427920 427920 253.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC34A3 Cystatin C (30720) EFO_0004617 8.33e-14 8.33 -14 "" 0.221 0.378 0.299 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 420.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC34A1 Cystatin C (30720) EFO_0004617 3.81e-15 3.81 -15 "" 0.111 0.184 0.147 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 1929.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" DHCR7 Vitamin D (30890) EFO_0004631 4.17e-19 4.17 -19 "" 0.113 0.177 0.145 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 3484.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" WNT1 Heel bone mineral density BMD (3148) EFO_0009270 3.58e-14 3.58 -14 "" -0.549 -0.323 -0.436 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 235.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET1 Standing height (50) EFO_0004339 1.04e-13 1.04 -13 "" 0.146 0.251 0.198 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 469.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PTPN11 Standing height (50) EFO_0004339 4.69e-15 4.69 -15 "" -0.308 -0.185 -0.247 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 340.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" POLE Mean corpuscular volume (30040) EFO_0004526 7.510000000000001e-21 7.51 -21 "" 0.249 0.38 0.314 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 689.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TFR2 Red blood cell erythrocyte distribution width (30070) EFO_0009188 7.67e-18 7.67 -18 "" -0.168 -0.106 -0.137 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3379.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TNFRSF13B Interpolated Age of participant when operation took place (20011) EFO_0004847 2.36e-19 2.36 -19 "" -0.132 -0.085 -0.109 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078244 346023 346023 6087.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" E2F4 Mean sphered cell volume (30270) EFO_0004526 1.64e-15 1.64 -15 "" 1.112 1.838 1.475 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 24.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I42.9: Cardiomyopathy, unspecified EFO_0000318 5.47e-17 5.47 -17 4.854 oddsRatioConfidenceIntervalLower 7.024 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079999 387930 681 45.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RTEL1 Red blood cell erythrocyte count (30010) EFO_0004305 4.95e-14 4.95 -14 "" -0.403 -0.236 -0.32 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 339.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R TAG Severe Obesity (RGC) EFO_0001073 6.12e-18 6.12 -18 4.087 oddsRatioConfidenceIntervalLower 5.627 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081528 150526 7973 66.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CALR ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 2.97e-28 2.97 -28 18.016 oddsRatioConfidenceIntervalLower 30.125 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 32.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PRSS56 3mm weak meridian left (5096) EFO_0004731 7.74e-12 7.74 -12 "" 0.321 0.578 0.449 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 187.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PCSK9 Apolipoprotein B (30640) EFO_0004615 5.91e-50 5.91 -50 "" -0.907 -0.695 -0.801 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 291.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" EPB41 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.87e-19 1.87 -19 "" 0.485 0.754 0.619 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 182.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ORAI3 Basophil percentage (30220) EFO_0007992 2.89e-16 2.89 -16 "" -0.218 -0.134 -0.176 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078999 418454 418454 2094.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCA1 HDL cholesterol (30760) EFO_0004612 1.52e-120 1.52 -120 "" -1.384 -1.17 -1.277 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 225.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APC ICD10 Z93: Artificial opening status EFO_0002571 3.73e-19 3.73 -19 31.753 oddsRatioConfidenceIntervalLower 67.742 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081416 387863 3783 17.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" ANGPTL3 Cholesterol (30690) EFO_0004574 1.9899999999999998e-62 1.99 -62 "" -0.582 -0.459 -0.521 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 867.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PTPRH Mean sphered cell volume (30270) EFO_0004526 2.62e-12 2.62 -12 "" 0.075 0.133 0.104 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 3786.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Whole body fat free mass (23101) EFO_0004995 6.52e-17 6.52 -17 "" -0.077 -0.048 -0.062 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 5845.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IFRD2 High light scatter reticulocyte count (30300) EFO_0007986 1.43e-84 1.43 -84 "" 0.19 0.233 0.211 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 7383.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SRSF2 ICD10 D64: Other anemias EFO_0004272 1.65e-11 1.65 -11 4.426 oddsRatioConfidenceIntervalLower 6.824 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079712 384878 15647 35.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCB4 Alanine aminotransferase (30620) EFO_0004735 2.38e-12 2.38 -12 "" 0.242 0.43 0.336 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 352.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EXOC3L4 Mean platelet thrombocyte volume (30100) EFO_0004584 7.51e-75 7.51 -75 "" -0.404 -0.326 -0.365 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1788.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Impedance of leg right (23107) HP_0000924 6.69e-12 6.69 -12 "" 0.054 0.098 0.076 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 5849.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GIGYF1 Hand grip strength left (46) EFO_0006941 3.14e-13 3.14 -13 "" -0.493 -0.284 -0.388 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 158.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MYD88 Neutrophil percentage (30200) EFO_0007990 1.44e-14 1.44 -14 "" -0.484 -0.288 -0.386 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 356.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A6 Total bilirubin (30840) EFO_0004570 6.32e-15 6.32 -15 "" 0.308 0.516 0.412 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9811 9811 348.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOA1 HDL cholesterol (30760) EFO_0004612 5.44e-15 5.44 -15 "" -1.547 -0.927 -1.237 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 27.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC4A1 Red blood cell erythrocyte count (30010) EFO_0004305 2.38e-15 2.38 -15 "" -1.237 -0.746 -0.991 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 39.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ZFAT Weight (23098) EFO_0004338 5.13e-14 5.13 -14 "" 0.114 0.194 0.154 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 1595.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SPSB3 Arm fat free mass right (23121) EFO_0004995 1.95e-11 1.95 -11 "" -0.06 -0.033 -0.047 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 6512.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Trunk fat free mass (23129) EFO_0004995 1.26e-18 1.26 -18 "" -0.08 -0.051 -0.066 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 5841.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A8 ICD10 E80: Disorders of porphyrin and bilirubin metabolism Orphanet_309824 1.34e-11 1.34 -11 11.024 oddsRatioConfidenceIntervalLower 22.099 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079769 387166 614 15.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACAN Leg predicted mass left (23118) EFO_0004302 1.02e-16 1.02 -16 "" -0.754 -0.466 -0.61 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 63.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 1.85e-15 1.85 -15 1.659 oddsRatioConfidenceIntervalLower 1.879 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 309.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" JAK2 IGF 1 (30770) EFO_0004627 2.09e-20 2.09 -20 "" -0.217 -0.141 -0.179 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 2109.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UBR2 Leg fat mass right (23112) EFO_0005409 7.99e-12 7.99 -12 "" 0.307 0.553 0.43 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078915 423659 423659 141.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 Type of Cancer: Malignant neoplasm of ovary (40006) EFO_0003893 1.84e-11 1.84 -11 5.85 oddsRatioConfidenceIntervalLower 9.794 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079111 41005 1106 26.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Weight (23098) EFO_0004338 7.43e-16 7.43 -16 "" 0.354 0.581 0.467 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 197.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 Treatment or Medication Code - doxazosin EFO_0007010 1.14e-14 1.14 -14 14.791 oddsRatioConfidenceIntervalLower 29.307 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078093 320758 5111 18.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" CTSD Aspartate aminotransferase (30650) EFO_0004736 1.76e-11 1.76 -11 "" 0.151 0.275 0.213 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 825.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC22A12 Urate (30880) EFO_0004531 7.16e-26 7.16 -26 "" -1.019 -0.699 -0.859 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9833 9833 106.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SCUBE3 Basal metabolic rate (23105) EFO_0007777 5.18e-14 5.18 -14 "" -0.125 -0.073 -0.099 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 2062.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 ICD10 D36.1: Benign neoplasm of peripheral nerves and autonomic nervous system EFO_0002422 4.4e-43 4.4 -43 25.443 oddsRatioConfidenceIntervalLower 40.344 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079694 387929 616 42.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MSH2 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 4.63e-13 4.63 -13 6.389 oddsRatioConfidenceIntervalLower 10.558 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 27.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHTF18 Mean corpuscular volume (30040) EFO_0004526 4.33e-17 4.33 -17 "" 0.184 0.295 0.24 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 959.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Reticulocyte count (30250) EFO_0007986 1.91e-18 1.91 -18 "" 0.151 0.237 0.194 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1767.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 3.32e-34 3.32 -34 13.448 oddsRatioConfidenceIntervalLower 20.421 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 47.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Weight (21002) EFO_0004338 2.4800000000000002e-29 2.48 -29 "" 0.216 0.307 0.262 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 1223.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 1.84e-14 1.84 -14 2.358 oddsRatioConfidenceIntervalLower 2.936 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 106.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGF1R IGF 1 (30770) EFO_0004627 6.240000000000001e-21 6.24 -21 "" 0.284 0.434 0.359 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 544.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ATM ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 1.28e-15 1.28 -15 2.652 oddsRatioConfidenceIntervalLower 3.369 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 96.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK Glycated haemoglobin HbA1c (30750) EFO_0004541 1.75e-82 1.75 -82 "" 0.72 0.883 0.802 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 442.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCB4 ICD10 K80: Cholelithiasis EFO_0004799 6.51e-15 6.51 -15 2.223 oddsRatioConfidenceIntervalLower 2.718 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080297 385441 17665 133.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RRBP1 Apolipoprotein B (30640) EFO_0004615 1.0099999999999999e-24 1.01 -24 "" -0.723 -0.491 -0.607 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 238.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOC3 Mean sphered cell volume (30270) EFO_0004526 8.09e-16 8.09 -16 "" 0.119 0.195 0.157 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 2176.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR Non cancer illness code self reported - high cholesterol HP_0003124 5.81e-15 5.81 -15 3.035 oddsRatioConfidenceIntervalLower 4.01 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 99.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Arm fat free mass right (23121) EFO_0004995 3.36e-19 3.36 -19 "" 0.113 0.177 0.145 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CALR ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 4.3799999999999995e-61 4.38 -61 387.89 oddsRatioConfidenceIntervalLower 787.79 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 31.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PCSK9 Cholesterol (30690) EFO_0004574 3.9200000000000003e-31 3.92 -31 "" -0.72 -0.512 -0.616 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8543 8543 320.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FBN2 Impedance of arm left (23110) HP_0000924 4.14e-12 4.14 -12 "" 0.095 0.17 0.132 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 1192.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" G6PC Triglycerides (30870) EFO_0004530 5.65e-13 5.65 -13 "" 0.175 0.306 0.241 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 721.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 2e-15 2.0 -15 2.901 oddsRatioConfidenceIntervalLower 3.774 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 89.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CLDN10 Cystatin C (30720) EFO_0004617 8.41e-23 8.41 -23 "" 0.517 0.774 0.646 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 156.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" OBSCN Creatinine (30700) EFO_0004518 3.41e-13 3.41 -13 "" 0.038 0.066 0.052 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 11448.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" E2F8 Mean corpuscular haemoglobin (30050) EFO_0004527 3.76e-14 3.76 -14 "" 0.299 0.508 0.403 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 273.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 Mothers age at death (3526) EFO_0007796 3.18e-20 3.18 -20 "" -0.493 -0.32 -0.406 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 469.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Whole body water mass (23102) EFO_0009805 2.93e-23 2.93 -23 "" -0.102 -0.069 -0.085 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 4404.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TMPRSS6 Mean corpuscular volume (30040) EFO_0004526 2.35e-20 2.35 -20 "" -0.832 -0.541 -0.686 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 142.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GP1BB Platelet crit (30090) EFO_0007985 1.46e-15 1.46 -15 "" -1.202 -0.728 -0.965 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 52.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC45A2 Skin colour - Light olive (1717) EFO_0003784 1.09e-32 1.09 -32 0.191 oddsRatioConfidenceIntervalLower 0.251 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 35.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PAPPA2 Trunk predicted mass (23130) EFO_0004324 2.5e-13 2.5 -13 "" -0.31 -0.179 -0.245 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 285.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR LDL direct (30780) EFO_0004611 8.28e-76 8.28 -76 "" 0.371 0.46 0.415 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 1784.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LRP2 Creatinine (30700) EFO_0004518 1.07e-20 1.07 -20 "" -0.382 -0.249 -0.316 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 502.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Monocyte percentage (30190) EFO_0007989 8.010000000000001e-31 8.01 -31 "" 0.205 0.289 0.247 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 1777.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SRSF2 Platelet distribution width (30110) EFO_0007984 1.2300000000000002e-21 1.23 -21 "" 0.505 0.766 0.635 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 182.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PAPPA2 Whole body water mass (23102) EFO_0009805 1.1e-15 1.1 -15 "" -0.141 -0.085 -0.113 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 1621.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LCORL Leg predicted mass left (23118) EFO_0004302 2.44e-12 2.44 -12 "" 0.235 0.418 0.327 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 157.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Pulse rate (4194) EFO_0004326 8.489999999999999e-23 8.49 -23 "" 0.236 0.354 0.295 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079160 173103 173103 1053.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PRSS56 6mm weak meridian right (5098) EFO_0004731 6.11e-12 6.11 -12 "" 0.347 0.624 0.485 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 162.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 ICD10 M50: Cervical disc disorders EFO_0009537 2.48e-12 2.48 -12 9.558 oddsRatioConfidenceIntervalLower 17.975 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080494 386602 2103 18.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC34A3 Creatinine (30700) EFO_0004518 2.1e-16 2.1 -16 "" 0.132 0.215 0.173 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 1281.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 2.94e-13 2.94 -13 "" -2.664 -1.536 -2.1 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 14.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LY75 Platelet count (30080) EFO_0004309 1.46e-16 1.46 -16 "" 0.097 0.157 0.127 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 3335.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MYBPC3 ICD10 I42: Cardiomyopathy EFO_0000318 4.31e-18 4.31 -18 41.169 oddsRatioConfidenceIntervalLower 95.4 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 14.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MYOC Non cancer illness code self reported - glaucoma/ICD10 H40 EFO_0000516 4.51e-17 4.51 -17 4.037 oddsRatioConfidenceIntervalLower 5.591 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077755 329052 4377 57.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TSHR ICD10 E03.9: Hypothyroidism, unspecified EFO_0004705 1.74e-13 1.74 -13 2.259 oddsRatioConfidenceIntervalLower 2.805 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079721 385358 19694 118.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GMPR Reticulocyte percentage (30240) EFO_0010700 6.42e-12 6.42 -12 "" 0.167 0.301 0.234 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 765.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC22A12 Urate (30880) EFO_0004531 2.2300000000000002e-307 2.23 -307 "" -1.018 -0.953 -0.985 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 2246.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK TAG ProbableT2D (RGC) MONDO_0005148 5.43e-24 5.43 -24 4.955 oddsRatioConfidenceIntervalLower 6.76 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081526 426342 17719 72.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC4A1 Reticulocyte count (30250) EFO_0007986 3.47e-13 3.47 -13 "" 0.147 0.255 0.201 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1140.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TMPRSS6 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 1.58e-13 1.58 -13 "" -0.472 -0.274 -0.373 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 361.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APC ICD10 Z87.1: Personal history of diseases of the digestive system EFO_0000405 5.57e-12 5.57 -12 8.586 oddsRatioConfidenceIntervalLower 15.828 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081368 386566 20497 21.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" ALOX15 Eosinophil percentage (30210) EFO_0007991 1.06e-14 1.06 -14 "" -0.087 -0.052 -0.069 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 11222.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Apolipoprotein A (30630) EFO_0004732 1.8700000000000003e-27 1.87 -27 "" 0.176 0.254 0.215 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1841.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.63e-13 1.63 -13 "" 1.45 2.499 1.975 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 14.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 ICD10 M50: Cervical disc disorders EFO_0009537 2.48e-12 2.48 -12 9.558 oddsRatioConfidenceIntervalLower 17.975 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080494 386602 2103 18.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" G6PC2 Glucose (30740) EFO_0004468 9.559999999999999e-172 9.56 -172 "" -0.279 -0.243 -0.261 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 10938.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KLF1 Mean corpuscular volume (30040) EFO_0004526 8.68e-20 8.68 -20 "" -1.129 -0.729 -0.929 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 75.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TET2 Eosinophil count (30150) EFO_0004842 7.239999999999999e-52 7.24 -52 "" -0.406 -0.313 -0.36 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 1515.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Impedance of arm right (23109) HP_0000924 1.53e-41 1.53 -41 "" 0.148 0.198 0.173 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 2646.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SMAD6 3mm strong meridian right (5132) EFO_0004731 5.36e-19 5.36 -19 "" 0.6 0.939 0.77 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079298 103540 103540 108.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MIP Non cancer illness code self reported - cataract/ICD10 H26 MONDO_0005129 2.84e-13 2.84 -13 11.066 oddsRatioConfidenceIntervalLower 21.096 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077757 329052 7792 19.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGF1R Arm fat free mass right (23121) EFO_0004995 6.8e-13 6.8 -13 "" -0.133 -0.076 -0.105 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 1485.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TMPRSS6 Mean corpuscular haemoglobin (30050) EFO_0004527 5.649999999999999e-45 5.65 -45 "" -0.748 -0.565 -0.656 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 361.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCB4 Non cancer illness code self reported - cholelithiasis gall stones EFO_0004210 4.31e-14 4.31 -14 1.511 oddsRatioConfidenceIntervalLower 1.682 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077704 331754 7669 432.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Hand grip strength left (46) EFO_0006941 1.93e-11 1.93 -11 "" -0.076 -0.042 -0.059 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 5940.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASXL1 ICD10 F17.1: Mental and behavioural disorders due to use of tobacco, harmful use (F17.1) EFO_0000677 2.23e-15 2.23 -15 2.505 oddsRatioConfidenceIntervalLower 3.144 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079794 387930 14902 106.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EXOC3L4 Gamma glutamyltransferase (30730) EFO_0004532 1.55e-28 1.55 -28 "" -0.268 -0.188 -0.228 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1761.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" OSGIN1 Alkaline phosphatase (30610) EFO_0004533 8.499999999999999e-31 8.5 -31 "" -0.104 -0.074 -0.089 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 13491.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" DDR2 Standing height (50) EFO_0004339 1.28e-12 1.28 -12 "" -0.718 -0.407 -0.563 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 54.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACSF3 Skin colour - Very fair (1717) EFO_0003784 3.65e-26 3.65 -26 1.459 oddsRatioConfidenceIntervalLower 1.565 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 1033.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CALR Platelet crit (30090) EFO_0007985 1.46e-13 1.46 -13 "" 0.187 0.322 0.254 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 647.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 6.48e-86 6.48 -86 "" -2.278 -1.865 -2.071 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9690 9690 99.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TSHR ICD10 E03: Other hypothyroidism EFO_0004705 1.82e-14 1.82 -14 2.978 oddsRatioConfidenceIntervalLower 3.937 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079722 383065 21010 79.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ABCG2 Urate (30880) EFO_0004531 1.21e-21 1.21 -21 "" 0.2 0.303 0.252 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 951.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Arm fat free mass left (23125) EFO_0004995 2e-12 2.0 -12 "" 0.233 0.413 0.323 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 157.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BORA Mean corpuscular volume (30040) EFO_0004526 4.95e-19 4.95 -19 "" -0.142 -0.091 -0.116 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 4560.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KLF1 Mean sphered cell volume (30270) EFO_0004526 5.86e-31 5.86 -31 "" -0.784 -0.557 -0.671 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 246.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBQ1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 1.74e-18 1.74 -18 "" -0.734 -0.466 -0.6 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 233.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LIPG HDL cholesterol (30760) EFO_0004612 5.409999999999999e-23 5.41 -23 "" 0.386 0.578 0.482 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 282.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RGS11 Mean corpuscular haemoglobin (30050) EFO_0004527 7.57e-15 7.57 -15 "" -0.721 -0.431 -0.576 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 224.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GFPT2 Trunk fat free mass (23129) EFO_0004995 9.59e-12 9.59 -12 "" -0.092 -0.051 -0.071 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 2921.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Haemoglobin concentration (30020) EFO_0004509 9.84e-13 9.84 -13 "" -0.161 -0.092 -0.126 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1794.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHEK2 Illnesses of siblings - Breast cancer (20111) EFO_0009640 1.2e-12 1.2 -12 1.818 oddsRatioConfidenceIntervalLower 2.144 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 183.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 5.6e-106 5.6 -106 "" 1.852 2.217 2.035 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R TAG Obesity (RGC) EFO_0001073 5.37e-22 5.37 -22 2.193 oddsRatioConfidenceIntervalLower 2.572 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081522 246639 104086 452.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Arm fat free mass left (23125) EFO_0004995 6.49e-22 6.49 -22 "" -0.13 -0.086 -0.108 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 2642.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TG Non cancer illness code self reported - hypothyroidism myxoedema EFO_1001055 2.08e-12 2.08 -12 1.914 oddsRatioConfidenceIntervalLower 2.294 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 165.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ABCB11 Alkaline phosphatase (30610) EFO_0004533 1.06e-23 1.06 -23 "" 0.475 0.706 0.591 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 224.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ITGA2B Mean platelet thrombocyte volume (30100) EFO_0004584 2.73e-13 2.73 -13 "" 0.231 0.4 0.315 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 385.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Weight (21002) EFO_0004338 2.17e-16 2.17 -16 "" 0.358 0.582 0.47 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 202.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Leg predicted mass left (23118) EFO_0004302 5.17e-20 5.17 -20 "" 0.106 0.163 0.134 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 1594.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 Illnesses of mother - None of the above group 2 (20110) EFO_0000493 1.11e-15 1.11 -15 0.519 oddsRatioConfidenceIntervalLower 0.609 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078283 423686 308506 376.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SRSF2 ICD10 A41: Other sepsis HP_0100806 6.56e-16 6.56 -16 8.388 oddsRatioConfidenceIntervalLower 14.053 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079546 387463 5918 28.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.8000000000000002e-158 1.8 -158 "" 1.967 2.277 2.122 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 98.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Arm fat free mass right (23121) EFO_0004995 3.56e-18 3.56 -18 "" -0.556 -0.352 -0.454 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 115.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BAK1 Platelet crit (30090) EFO_0007985 2.98e-19 2.98 -19 "" 0.209 0.326 0.268 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 863.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Red blood cell erythrocyte count (30010) EFO_0004305 2.36e-12 2.36 -12 "" -0.167 -0.094 -0.13 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 1779.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TNFRSF13B Lymphocyte count (30120) EFO_0004587 1.41e-32 1.41 -32 "" -0.154 -0.111 -0.132 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 7135.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Leg fat percentage right (23111) EFO_0007800 3.46e-19 3.46 -19 "" 0.133 0.208 0.171 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078914 423666 423666 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Weight (23098) EFO_0004338 3.35e-19 3.35 -19 "" 0.104 0.162 0.133 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 3013.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NPC1 Platelet distribution width (30110) EFO_0007984 1.66e-11 1.66 -11 "" 0.086 0.157 0.122 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 2745.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Sitting height (20015) EFO_0011011 3.0800000000000004e-37 3.08 -37 "" -0.905 -0.664 -0.785 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 116.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FLG Age hay fever rhinitis or eczema diagnosed (3761) EFO_0004847 1.7999999999999998e-35 1.8 -35 "" -0.246 -0.179 -0.213 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079072 88602 88602 3170.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GNB1 Eosinophil percentage (30210) EFO_0007991 9.74e-20 9.74 -20 "" -0.593 -0.383 -0.488 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 304.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PLIN1 Triglycerides (30870) EFO_0004530 8.08e-14 8.08 -14 "" -0.293 -0.171 -0.232 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 834.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Impedance of whole body (23106) HP_0000924 1.95e-11 1.95 -11 "" -0.075 -0.041 -0.058 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 6714.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MFSD2B Immature reticulocyte fraction (30280) EFO_0010700 1.13e-17 1.13 -17 "" -0.14 -0.088 -0.114 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 5756.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCB4 Alanine aminotransferase (30620) EFO_0004735 1.1699999999999998e-23 1.17 -23 "" 0.159 0.236 0.198 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 2762.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NF1 Sitting height (20015) EFO_0011011 1.04e-12 1.04 -12 "" -0.404 -0.23 -0.317 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 222.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" FLG Age hay fever rhinitis or eczema diagnosed (3761) EFO_0004847 2.02e-12 2.02 -12 "" -0.289 -0.163 -0.226 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079072 88602 88602 880.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 ICD10 C78: Secondary malignant neoplasm of respiratory and digestive organs EFO_0009812 2.64e-12 2.64 -12 4.171 oddsRatioConfidenceIntervalLower 6.224 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079625 387835 6526 38.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPTB Mean reticulocyte volume (30260) EFO_0010701 3.5299999999999995e-23 3.53 -23 "" -1.228 -0.822 -1.025 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 78.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SMAD6 3mm strong meridian left (5135) EFO_0004731 7.2e-18 7.2 -18 "" 0.572 0.908 0.74 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079301 103531 103531 109.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYRP1 Hair colour natural before greying - Dark brown (1747) EFO_0007822 5.46e-30 5.46 -30 0.758 oddsRatioConfidenceIntervalLower 0.795 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 2932.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NOTCH1 Neutrophil percentage (30200) EFO_0007990 2.48e-20 2.48 -20 "" -1.545 -1.004 -1.274 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 47.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Leg fat free mass right (23113) EFO_0004995 1.68e-15 1.68 -15 "" 0.25 0.413 0.331 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 197.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANTXR1 Impedance of whole body (23106) HP_0000924 2.37e-12 2.37 -12 "" -0.167 -0.094 -0.131 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 1439.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Trunk predicted mass (23130) EFO_0004324 3.08e-16 3.08 -16 "" 0.279 0.455 0.367 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 157.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TFR2 Haematocrit percentage (30030) EFO_0004348 2.02e-11 2.02 -11 "" 0.063 0.115 0.089 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 3379.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC ICD10 Z09.0: Follow-up examination after surgery for other conditions (Z09.0) EFO_0004542 7.25e-12 7.25 -12 16.558 oddsRatioConfidenceIntervalLower 36.955 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081201 387930 5895 13.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" CHEK2 Neutrophil count (30140) EFO_0004833 4.05e-18 4.05 -18 "" 0.12 0.19 0.155 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 2752.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 Total bilirubin (30840) EFO_0004570 2.2e-14 2.2 -14 "" 0.493 0.834 0.664 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 82.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANGPTL8 HDL cholesterol (30760) EFO_0004612 2.4600000000000003e-21 2.46 -21 "" 0.268 0.408 0.338 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 528.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 5.6e-106 5.6 -106 "" 1.852 2.217 2.035 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FCGRT Total protein (30860) EFO_0004536 1.1500000000000002e-27 1.15 -27 "" -1.976 -1.373 -1.674 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 38.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" COL1A1 Sitting height (20015) EFO_0011011 8.93e-12 8.93 -12 "" -0.686 -0.38 -0.533 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 72.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC45A2 Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 1.9099999999999999e-34 1.91 -34 0.623 oddsRatioConfidenceIntervalLower 0.672 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 941.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPTA1 Total bilirubin (30840) EFO_0004570 2.2e-26 2.2 -26 "" 0.357 0.519 0.438 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 365.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN ICD10 I42.0: Dilated cardiomyopathy EFO_0000407 1.49e-54 1.49 -54 9.989 oddsRatioConfidenceIntervalLower 13.35 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079998 387930 858 88.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF2BP2 Standing height (50) EFO_0004339 2.57e-12 2.57 -12 "" -0.793 -0.446 -0.619 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 43.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SMAD6 Ankle spacing width (3143) EFO_0004324 1.0899999999999999e-23 1.09 -23 "" 0.219 0.326 0.273 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 862.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SH2B3 Red blood cell erythrocyte count (30010) EFO_0004305 1.38e-26 1.38 -26 "" 0.112 0.163 0.138 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 3695.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PALB2 Type of Cancer: Malignant neoplasm of breast (40006) EFO_0003869 5.19e-12 5.19 -12 3.448 oddsRatioConfidenceIntervalLower 4.901 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079108 41005 12472 77.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPSB3 Whole body water mass (23102) EFO_0009805 1.27e-16 1.27 -16 "" -0.072 -0.044 -0.058 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 6513.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Sitting height (20015) EFO_0011011 7.39e-13 7.39 -13 "" 0.263 0.461 0.362 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 172.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Sitting height (20015) EFO_0011011 7.53e-19 7.53 -19 "" 0.385 0.603 0.494 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 142.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SPTA1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.74e-16 2.74 -16 "" 0.31 0.505 0.407 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 373.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Cystatin C (30720) EFO_0004617 5.21e-17 5.21 -17 "" 0.126 0.202 0.164 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 1778.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APEH Glycated haemoglobin HbA1c (30750) EFO_0004541 1.31e-17 1.31 -17 "" 0.213 0.339 0.276 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 736.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MED17 Mean corpuscular haemoglobin (30050) EFO_0004527 1.7100000000000003e-21 1.71 -21 "" -0.648 -0.427 -0.538 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 243.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK Non cancer illness code self reported - diabetes EFO_0000400 3.84e-16 3.84 -16 4.075 oddsRatioConfidenceIntervalLower 5.714 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077722 331754 17927 58.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SCUBE3 Whole body fat free mass (23101) EFO_0004995 4.48e-14 4.48 -14 "" -0.119 -0.07 -0.094 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 2062.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKLR High light scatter reticulocyte count (30300) EFO_0007986 1.5499999999999998e-40 1.55 -40 "" 0.142 0.191 0.167 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 5623.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANGPTL7 6mm weak meridian left (5097) EFO_0004731 4e-20 4.0 -20 "" 0.161 0.249 0.205 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 1623.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MROH2A Direct bilirubin (30660) EFO_0004570 1.45e-13 1.45 -13 "" -0.162 -0.094 -0.128 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 2799.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ITGA2B Mean platelet thrombocyte volume (30100) EFO_0004584 2.02e-13 2.02 -13 "" 0.23 0.397 0.314 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 393.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK TAG ProbableT2D (RGC) MONDO_0005148 2.32e-21 2.32 -21 23.874 oddsRatioConfidenceIntervalLower 45.974 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081526 426342 17719 25.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANKRD12 Neutrophil percentage (30200) EFO_0007990 2.79e-16 2.79 -16 "" 0.333 0.543 0.438 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 312.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADH1C IGF 1 (30770) EFO_0004627 2.05e-18 2.05 -18 "" 0.07 0.11 0.09 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 7656.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 Alkaline phosphatase (30610) EFO_0004533 2.12e-11 2.12 -11 "" -0.078 -0.043 -0.06 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 9764.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD2 ICD10 Q61: Cystic kidney disease EFO_0008615 1.4e-57 1.4 -57 106.151 oddsRatioConfidenceIntervalLower 188.01 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 36.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" DTL Standing height (50) EFO_0004339 5.23e-25 5.23 -25 "" -0.593 -0.404 -0.498 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 146.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOC3 Mean sphered cell volume (30270) EFO_0004526 1.5e-15 1.5 -15 "" 0.117 0.193 0.155 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 2185.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A1 Total bilirubin (30840) EFO_0004570 2.05e-76 2.05 -76 "" 0.521 0.645 0.583 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 864.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MED17 Mean corpuscular haemoglobin (30050) EFO_0004527 1.7100000000000003e-21 1.71 -21 "" -0.648 -0.427 -0.538 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 243.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean corpuscular volume (30040) EFO_0004526 1.69e-37 1.69 -37 "" -2.981 -2.189 -2.585 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 19.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.11e-11 1.11 -11 "" 1.319 2.39 1.855 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PFKM Haemoglobin concentration (30020) EFO_0004509 1.44e-16 1.44 -16 "" 0.111 0.18 0.146 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1808.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" G6PC Triglycerides (30870) EFO_0004530 5.65e-13 5.65 -13 "" 0.175 0.306 0.241 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 721.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GRAMD2 Standing height (50) EFO_0004339 5.61e-12 5.61 -12 "" 0.057 0.103 0.08 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2489.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RHAG Reticulocyte count (30250) EFO_0007986 3.88e-45 3.88 -45 "" 0.791 1.046 0.918 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 204.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Leg fat free mass right (23113) EFO_0004995 5.76e-16 5.76 -16 "" -0.115 -0.07 -0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 2643.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CYP1A2 Tea intake (1488) EFO_0010091 6.59e-38 6.59 -38 "" -0.214 -0.158 -0.186 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077587 417958 417958 4347.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TP53 DD Cancer - Yes (2453) EFO_0000311 5.47e-12 5.47 -12 2.383 oddsRatioConfidenceIntervalLower 3.05 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 96.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" EPB41 High light scatter reticulocyte percentage (30290) EFO_0010700 2.44e-14 2.44 -14 "" 0.399 0.675 0.537 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 178.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A10 Direct bilirubin (30660) EFO_0004570 3.3499999999999997e-38 3.35 -38 "" 0.346 0.469 0.407 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 839.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLCO1B1 Total bilirubin (30840) EFO_0004570 5.52e-40 5.52 -40 "" 0.303 0.408 0.355 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 886.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 ICD10 D69.6: Thrombocytopenia, unspecified HP_0001873 2.34e-12 2.34 -12 4.113 oddsRatioConfidenceIntervalLower 6.106 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079714 387579 1788 38.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Leg fat free mass left (23117) EFO_0004995 5.18e-14 5.18 -14 "" 0.072 0.123 0.098 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 2067.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Standing height (50) EFO_0004339 6.67e-69 6.67 -69 "" 0.163 0.204 0.184 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 3061.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Leg fat free mass left (23117) EFO_0004995 1.4e-12 1.4 -12 "" 0.241 0.425 0.333 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 157.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB High light scatter reticulocyte percentage (30290) EFO_0010700 5.38e-13 5.38 -13 "" 0.502 0.876 0.689 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 96.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SBNO2 Lymphocyte count (30120) EFO_0004587 8.51e-13 8.51 -13 "" 0.389 0.683 0.536 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 157.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LCORL Sitting height (20015) EFO_0011011 2.51e-16 2.51 -16 "" 0.255 0.415 0.335 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 263.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 8.08e-13 8.08 -13 10.795 oddsRatioConfidenceIntervalLower 20.705 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 19.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" HBB Haemoglobin concentration (30020) EFO_0004509 5.62e-65 5.62 -65 "" -1.636 -1.298 -1.467 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LPA Lipoprotein A (30790) EFO_0006925 1.3e-73 1.3 -73 "" -0.447 -0.36 -0.404 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079034 329317 329317 2027.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IFRD2 Reticulocyte count (30250) EFO_0007986 2.66e-28 2.66 -28 "" 0.246 0.353 0.3 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1171.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Ankle spacing width (3143) EFO_0004324 3.57e-31 3.57 -31 "" 0.126 0.177 0.151 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 3777.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CD36 HDL cholesterol (30760) EFO_0004612 1.52e-21 1.52 -21 "" 0.109 0.166 0.138 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 3282.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FLG ChildhoodAsthmaCases vs AdultAsthmaCases (RGC) MONDO_0005405 4.49e-12 4.49 -12 1.438 oddsRatioConfidenceIntervalLower 1.594 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081472 43153 16952 787.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 White blood cell leukocyte count (30000) EFO_0004308 5.53e-18 5.53 -18 "" -0.236 -0.149 -0.192 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 1794.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PAPPA2 Leg fat free mass left (23117) EFO_0004995 1.68e-11 1.68 -11 "" -0.114 -0.063 -0.089 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 2008.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK Glucose (30740) EFO_0004468 2.3999999999999998e-43 2.4 -43 "" 0.919 1.223 1.071 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 154.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GCK T2D New Strict CC (RGC) MONDO_0005148 5.08e-20 5.08 -20 34.58 oddsRatioConfidenceIntervalLower 73.791 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081517 352271 11970 20.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SCUBE3 Whole body water mass (23102) EFO_0009805 8.07e-14 8.07 -14 "" -0.118 -0.069 -0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 2062.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Leg predicted mass left (23118) EFO_0004302 1.88e-13 1.88 -13 "" 0.197 0.34 0.268 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 257.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 7.599999999999999e-24 7.6 -24 "" -2.648 -1.785 -2.217 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 19.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SBNO2 White blood cell leukocyte count (30000) EFO_0004308 1.13e-11 1.13 -11 "" 0.301 0.545 0.423 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 228.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" TYRP1 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 3.67e-26 3.67 -26 1.736 oddsRatioConfidenceIntervalLower 1.922 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 607.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Immature reticulocyte fraction (30280) EFO_0010700 3.87e-16 3.87 -16 "" 0.601 0.982 0.792 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 96.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Systolic blood pressure automated reading (4080) EFO_0006335 1.93e-15 1.93 -15 "" -0.176 -0.106 -0.141 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079146 408211 408211 2574.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BAK1 Platelet count (30080) EFO_0004309 1.01e-12 1.01 -12 "" 0.351 0.618 0.485 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 165.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Hand grip strength left (46) EFO_0006941 6.26e-15 6.26 -15 "" -0.126 -0.076 -0.101 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 2693.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RHAG Reticulocyte count (30250) EFO_0007986 1.7e-25 1.7 -25 "" 0.216 0.316 0.266 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1331.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANKRD12 Lymphocyte percentage (30180) EFO_0007993 3.81e-16 3.81 -16 "" -0.531 -0.325 -0.428 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 312.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SH2B3 Cystatin C (30720) EFO_0004617 2.0600000000000002e-26 2.06 -26 "" 0.16 0.232 0.196 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 2002.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 3.2e-26 3.2 -26 8.874 oddsRatioConfidenceIntervalLower 13.291 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 44.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLCN ICD10 J93: Pneumothorax and air leak MONDO_0002076 2.51e-24 2.51 -24 51.292 oddsRatioConfidenceIntervalLower 109.49 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080153 387375 1190 18.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD1 ICD10 Z94: Transplanted organ and tissue status EFO_0002571 1.85e-52 1.85 -52 14.0 oddsRatioConfidenceIntervalLower 19.657 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081418 387906 1305 69.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IL17RA Monocyte count (30130) EFO_0005091 1.76e-17 1.76 -17 "" -0.725 -0.454 -0.589 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 166.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PLA2G12A Lipoprotein A (30790) EFO_0006925 1.11e-11 1.11 -11 "" -0.085 -0.047 -0.066 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079034 329317 329317 6408.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GIGYF1 Townsend deprivation index at recruitment (189) EFO_0009711 5.13e-13 5.13 -13 "" 0.406 0.708 0.557 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077617 430494 430494 158.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Arm predicted mass right (23122) EFO_0004302 2.9e-20 2.9 -20 "" 0.133 0.204 0.168 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS17 Comparative height size at age 10 - Shorter (1697) EFO_0004339 1.37e-17 1.37 -17 2.619 oddsRatioConfidenceIntervalLower 3.266 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 156.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Treatment or Medication Code - digoxin EFO_0007010 8.93e-16 8.93 -16 5.387 oddsRatioConfidenceIntervalLower 8.122 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078240 320758 1185 38.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 5.24e-29 5.24 -29 "" 1.654 2.357 2.006 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 19.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PCSK9 Direct bilirubin (30660) EFO_0004570 2.23e-12 2.23 -12 "" 0.127 0.226 0.176 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1047.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MYD88 Type of Cancer: Chronic lymphocytic leukemia of B-cell type (40006) EFO_0000095 3.85e-15 3.85 -15 44.035 oddsRatioConfidenceIntervalLower 113.164 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079124 74230 571 12.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 4.97e-15 4.97 -15 2.928 oddsRatioConfidenceIntervalLower 3.831 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 81.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - ezetrol 10mg tablet EFO_0007010 4.74e-18 4.74 -18 9.369 oddsRatioConfidenceIntervalLower 15.546 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078227 320758 843 28.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TSHR Non cancer illness code self reported - hypothyroidism myxoedema EFO_1001055 6.920000000000001e-29 6.92 -29 2.576 oddsRatioConfidenceIntervalLower 3.042 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 220.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MEN1 ICD10 E21: Hyperparathyroidism and other disorders of parathyroid gland EFO_0008506 1.75e-11 1.75 -11 14.176 oddsRatioConfidenceIntervalLower 30.7 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079753 387625 1168 13.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PRSS56 6mm weak meridian left (5097) EFO_0004731 1.02e-11 1.02 -11 "" 0.345 0.623 0.484 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 159.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS17 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 2.29e-14 2.29 -14 "" -0.099 -0.059 -0.079 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 1336.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Arm fat free mass right (23121) EFO_0004995 1.44e-15 1.44 -15 "" -0.84 -0.509 -0.674 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 44.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" UGT1A9 Direct bilirubin (30660) EFO_0004570 4.8299999999999993e-42 4.83 -42 "" 0.299 0.4 0.35 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1261.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MED17 Mean corpuscular haemoglobin (30050) EFO_0004527 1.7100000000000003e-21 1.71 -21 "" -0.648 -0.427 -0.538 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 243.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PTPRJ Trunk fat free mass (23129) EFO_0004995 1.57e-11 1.57 -11 "" -0.276 -0.152 -0.214 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 316.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TUBB1 Platelet count (30080) EFO_0004309 1.11e-24 1.11 -24 "" -0.562 -0.381 -0.472 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 358.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ADCK3 Mean corpuscular volume (30040) EFO_0004526 4.41e-17 4.41 -17 "" -0.203 -0.126 -0.165 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 2036.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" OCA2 Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 4.27e-120 4.27 -120 0.614 oddsRatioConfidenceIntervalLower 0.639 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 3264.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OCA2 Use of sun uv protection - Always (2267) EFO_0010729 6.03e-20 6.03 -20 1.234 oddsRatioConfidenceIntervalLower 1.292 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078882 430409 96475 2813.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FGFR3 Standing height (50) EFO_0004339 3.9800000000000006e-21 3.98 -21 "" -0.085 -0.056 -0.07 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 6086.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GGT1 Gamma glutamyltransferase (30730) EFO_0004532 6.03e-21 6.03 -21 "" -0.215 -0.141 -0.178 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 2121.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ALB Albumin (30600) EFO_0004535 4.6500000000000004e-35 4.65 -35 "" -2.419 -1.757 -2.088 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 31.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" EIF2AK1 High light scatter reticulocyte percentage (30290) EFO_0010700 1.1e-14 1.1 -14 "" 0.169 0.284 0.227 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1015.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TMPRSS6 Mean corpuscular volume (30040) EFO_0004526 4.31e-47 4.31 -47 "" -0.386 -0.294 -0.34 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1412.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SF3B1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.23e-19 6.23 -19 "" 0.322 0.505 0.413 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 394.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 ICD10 C92: Myeloid leukemia EFO_0002427 3.2900000000000002e-21 3.29 -21 9.96 oddsRatioConfidenceIntervalLower 16.04 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 32.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KDM5B Duration to first press of snap button in each round (404) EFO_0008354 4.35e-14 4.35 -14 "" 0.321 0.546 0.434 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079143 428085 428085 253.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Arm fat free mass right (23121) EFO_0004995 2.4e-13 2.4 -13 "" 0.24 0.416 0.328 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 157.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TSHR Non cancer illness code self reported - hypothyroidism myxoedema/ICD10 E03 EFO_1001055 1.45e-20 1.45 -20 2.358 oddsRatioConfidenceIntervalLower 2.825 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077731 329052 18362 176.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOB Apolipoprotein B (30640) EFO_0004615 2.2300000000000002e-307 2.23 -307 "" -1.768 -1.602 -1.685 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 474.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Body mass index BMI (23104) EFO_0004340 2.57e-16 2.57 -16 "" 0.411 0.67 0.541 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078907 423694 423694 197.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 C50: Malignant neoplasm of breast EFO_0003869 8.33e-19 8.33 -19 2.968 oddsRatioConfidenceIntervalLower 3.777 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 103.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Standing height (50) EFO_0004339 1.02e-13 1.02 -13 "" 0.091 0.156 0.123 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1214.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GP1BA Mean platelet thrombocyte volume (30100) EFO_0004584 4.63e-114 4.63 -114 "" 0.584 0.694 0.639 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 902.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CAD Mean corpuscular volume (30040) EFO_0004526 8.9e-19 8.9 -19 "" 0.34 0.534 0.437 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 319.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" APC ICD10 Z93: Artificial opening status EFO_0002571 4.01e-22 4.01 -22 27.213 oddsRatioConfidenceIntervalLower 53.156 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081416 387863 3783 21.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLFN14 Platelet distribution width (30110) EFO_0007984 1.84e-14 1.84 -14 "" -0.429 -0.254 -0.341 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 406.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK TAG ProbableT2D (RGC) MONDO_0005148 7.56e-25 7.56 -25 9.732 oddsRatioConfidenceIntervalLower 15.009 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081526 426342 17719 45.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" DNMT3A Eosinophil percentage (30210) EFO_0007991 1.47e-16 1.47 -16 "" -0.135 -0.083 -0.109 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 5068.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C77: Secondary and unspecified malignant neoplasm of lymph nodes MONDO_0024339 4.920000000000001e-21 4.92 -21 2.651 oddsRatioConfidenceIntervalLower 3.248 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079620 387882 7019 130.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FLCN Non cancer illness code self reported - spontaneous pneumothorax recurrent pneumothorax/ICD10 J93 HP_0002108 1.04e-13 1.04 -13 18.701 oddsRatioConfidenceIntervalLower 40.47 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077686 329051 839 14.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" G6PD Glycated haemoglobin HbA1c (30750) EFO_0004541 2.23e-31 2.23 -31 "" -1.073 -0.764 -0.919 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2117 2117 82.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TUBB1 Platelet crit (30090) EFO_0007985 5.09e-47 5.09 -47 "" -0.35 -0.266 -0.308 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 1677.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Leg fat free mass left (23117) EFO_0004995 1.3e-16 1.3 -16 "" 0.264 0.429 0.346 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 197.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GMPR High light scatter reticulocyte percentage (30290) EFO_0010700 3.41e-73 3.41 -73 "" 0.249 0.31 0.28 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 3713.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Non cancer illness code self reported - atrial fibrillation/ICD10 I48 EFO_0000275 1.06e-18 1.06 -18 2.82 oddsRatioConfidenceIntervalLower 3.55 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077882 329052 3763 104.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TADA1 Mean platelet thrombocyte volume (30100) EFO_0004584 5.77e-17 5.77 -17 "" 0.298 0.48 0.389 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 339.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Treatment or Medication Code - digoxin EFO_0007010 8.93e-16 8.93 -16 5.387 oddsRatioConfidenceIntervalLower 8.122 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078240 320758 1185 38.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 1.17e-19 1.17 -19 3.423 oddsRatioConfidenceIntervalLower 4.465 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 86.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Forced expiratory volume in 1 second FEV1 Best measure (20150) EFO_0004314 3.12e-14 3.12 -14 "" 0.055 0.093 0.074 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078316 322002 322002 5104.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" E2F8 Mean reticulocyte volume (30260) EFO_0010701 1.24e-14 1.24 -14 "" 0.319 0.536 0.428 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 272.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC34A1 Cystatin C (30720) EFO_0004617 4.46e-16 4.46 -16 "" 0.069 0.113 0.091 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 5426.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANK1 Glycated haemoglobin HbA1c (30750) EFO_0004541 3.07e-27 3.07 -27 "" -0.12 -0.083 -0.102 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 8840.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLG AsthmaCases vs AllergicDiseaseControls (RGC) MONDO_0004979 9.7e-18 9.7 -18 1.266 oddsRatioConfidenceIntervalLower 1.336 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081459 328314 47628 1808.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 6.619999999999999e-23 6.62 -23 7.66 oddsRatioConfidenceIntervalLower 11.484 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 42.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB Cholesterol (30690) EFO_0004574 1.6599999999999999e-68 1.66 -68 "" -1.705 -1.361 -1.533 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 110.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" SMAD6 6mm strong meridian left (5134) EFO_0004731 3.3200000000000002e-21 3.32 -21 "" 0.367 0.559 0.463 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079300 89735 89735 331.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACAN Trunk predicted mass (23130) EFO_0004324 2.18e-19 2.18 -19 "" -0.575 -0.369 -0.472 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 115.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MLH1 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.6e-20 1.6 -20 16.436 oddsRatioConfidenceIntervalLower 29.676 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 30.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGFALS Arm fat free mass right (23121) EFO_0004995 2.76e-13 2.76 -13 "" -0.118 -0.068 -0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 1957.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IQGAP2 Platelet count (30080) EFO_0004309 4.22e-62 4.22 -62 "" -0.167 -0.131 -0.149 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 9657.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I48: Atrial fibrillation and flutter EFO_0000275 2.8000000000000003e-23 2.8 -23 3.172 oddsRatioConfidenceIntervalLower 3.984 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080015 386856 20107 121.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" SRSF2 ICD10 C92: Myeloid leukemia EFO_0002427 1.96e-43 1.96 -43 82.08 oddsRatioConfidenceIntervalLower 153.368 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 29.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ALB Albumin (30600) EFO_0004535 5.07e-171 5.07 -171 "" -2.426 -2.107 -2.266 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 134.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SRSF2 High light scatter reticulocyte percentage (30290) EFO_0010700 2.59e-39 2.59 -39 "" 0.789 1.067 0.928 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 175.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 Creatinine (30700) EFO_0004518 3.1500000000000004e-36 3.15 -36 "" 0.454 0.622 0.538 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 311.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EPB41 Glycated haemoglobin HbA1c (30750) EFO_0004541 2.53e-34 2.53 -34 "" -1.158 -0.838 -0.998 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 115.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Impedance of leg left (23108) HP_0000924 8.12e-15 8.12 -15 "" -0.585 -0.349 -0.467 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 197.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CPXM1 Corneal resistance factor right (5257) EFO_0010067 1.15e-11 1.15 -11 "" 0.081 0.146 0.114 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079336 105888 105888 3232.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MPO Monocyte percentage (30190) EFO_0007989 8.78e-44 8.78 -44 "" -0.128 -0.097 -0.112 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 12702.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB Direct bilirubin (30660) EFO_0004570 9.74e-22 9.74 -22 "" 0.405 0.613 0.509 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 295.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RTEL1 Mean sphered cell volume (30270) EFO_0004526 8.93e-15 8.93 -15 "" 0.287 0.481 0.384 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 336.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OCA2 Skin colour - Light olive (1717) EFO_0003784 1.44e-15 1.44 -15 0.161 oddsRatioConfidenceIntervalLower 0.253 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 12.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LPL Apolipoprotein A (30630) EFO_0004732 1.23e-12 1.23 -12 "" -0.524 -0.297 -0.411 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 215.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ABCA1 HDL cholesterol (30760) EFO_0004612 8.43e-232 8.43 -232 "" -0.356 -0.316 -0.336 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 6386.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SRSF2 Platelet count (30080) EFO_0004309 4.43e-18 4.43 -18 "" -0.687 -0.434 -0.56 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 182.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Leg predicted mass left (23118) EFO_0004302 7.59e-14 7.59 -14 "" 0.071 0.122 0.096 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 2067.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PAPPA2 IGF 1 (30770) EFO_0004627 2.25e-31 2.25 -31 "" 0.197 0.277 0.237 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1937.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" B4GALNT3 Alkaline phosphatase (30610) EFO_0004533 3.26e-12 3.26 -12 "" 0.125 0.223 0.174 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 1241.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANK1 Reticulocyte percentage (30240) EFO_0010700 1.42e-12 1.42 -12 "" 0.435 0.768 0.602 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 123.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBQ1 Mean corpuscular haemoglobin (30050) EFO_0004527 6.72e-25 6.72 -25 "" -0.885 -0.602 -0.744 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 233.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" OCA2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 1.4500000000000002e-296 1.45 -296 2.38 oddsRatioConfidenceIntervalLower 2.493 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 3350.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Standing height (50) EFO_0004339 2.96e-13 2.96 -13 "" -0.219 -0.126 -0.173 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 603.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A10 Direct bilirubin (30660) EFO_0004570 5.83e-33 5.83 -33 "" 0.312 0.434 0.373 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 850.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SCUBE3 Arm predicted mass left (23126) EFO_0004302 7.9e-13 7.9 -13 "" -0.115 -0.066 -0.091 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 2062.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBA2 Mean corpuscular haemoglobin (30050) EFO_0004527 4.22e-20 4.22 -20 "" -1.576 -1.021 -1.299 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 39.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R Whole body water mass (23102) EFO_0009805 7.44e-15 7.44 -15 "" -0.143 -0.085 -0.114 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 1485.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TFR2 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.58e-12 2.58 -12 "" -0.259 -0.145 -0.202 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1024.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SEC23B Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.04e-22 1.04 -22 "" 0.18 0.27 0.225 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1618.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HSPA9 Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.77e-16 5.77 -16 "" 0.131 0.215 0.173 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1880.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IFT140 ICD10 N28: Other disorders of kidney and ureter, not elsewhere classified EFO_0009690 1.09e-16 1.09 -16 5.464 oddsRatioConfidenceIntervalLower 8.161 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080595 387002 3413 40.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EPB42 Mean sphered cell volume (30270) EFO_0004526 2.3e-13 2.3 -13 "" -0.286 -0.166 -0.226 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 863.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANGPTL3 Apolipoprotein A (30630) EFO_0004732 2.26e-64 2.26 -64 "" -0.567 -0.449 -0.508 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 799.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Leg fat free mass left (23117) EFO_0004995 1.58e-13 1.58 -13 "" -0.512 -0.297 -0.404 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 115.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR ICD10 I20.9: Angina pectoris, unspecified EFO_0003913 6e-13 6.0 -13 2.003 oddsRatioConfidenceIntervalLower 2.42 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079967 387883 18859 149.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TUBB1 Mean platelet thrombocyte volume (30100) EFO_0004584 6.63e-96 6.63 -96 "" 0.388 0.469 0.428 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1678.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Haemoglobin concentration (30020) EFO_0004509 5.62e-65 5.62 -65 "" -1.636 -1.298 -1.467 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADCK3 Mean reticulocyte volume (30260) EFO_0010701 1.75e-15 1.75 -15 "" -0.205 -0.124 -0.164 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 2002.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC ICD10 Z86.0: Personal history of in-situ and benign neoplasms and neoplasms of uncertain behavior EFO_0000616 1.79e-18 1.79 -18 16.465 oddsRatioConfidenceIntervalLower 30.794 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081355 387929 6926 22.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PLA2G12A SHBG (30830) EFO_0004696 2.7e-50 2.7 -50 "" 0.125 0.162 0.144 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 7413.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CASR Calcium (30680) EFO_0004838 1.45e-32 1.45 -32 "" 1.468 2.048 1.758 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 42.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS3 Impedance of leg right (23107) HP_0000924 7.98e-17 7.98 -17 "" -0.348 -0.216 -0.282 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 614.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APOB LDL direct (30780) EFO_0004611 2.23e-22 2.23 -22 "" -0.134 -0.089 -0.112 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 6773.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GNB1 Neutrophil count (30140) EFO_0004833 2.95e-14 2.95 -14 "" 0.305 0.517 0.411 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 304.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Leg predicted mass right (23114) EFO_0004302 2.49e-52 2.49 -52 "" 0.095 0.122 0.108 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 6711.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Standing height (50) EFO_0004339 6.05e-53 6.05 -53 "" -0.93 -0.719 -0.824 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 116.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APC ICD10 D12.6: Benign neoplasm of colon, unspecified EFO_0002422 5.68e-15 5.68 -15 10.098 oddsRatioConfidenceIntervalLower 18.039 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079659 387930 2672 22.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" SLC45A2 Hair colour natural before greying - Blonde (1747) EFO_0007822 3.93e-158 3.93 -158 3.568 oddsRatioConfidenceIntervalLower 3.916 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 866.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CASR Calcium (30680) EFO_0004838 1.65e-48 1.65 -48 "" 0.465 0.608 0.537 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 685.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MPL Platelet crit (30090) EFO_0007985 4.43e-34 4.43 -34 "" 0.339 0.47 0.404 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 699.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" INSC Heel quantitative ultrasound index QUI direct entry right (4123) EFO_0004514 6.65e-14 6.65 -14 "" 0.069 0.118 0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079157 166358 166358 5126.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MIP Non cancer illness code self reported - cataract/ICD10 H26 MONDO_0005129 1.92e-13 1.92 -13 16.147 oddsRatioConfidenceIntervalLower 33.887 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077757 329052 7792 16.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Arm fat percentage right (23119) EFO_0007800 7.4e-12 7.4 -12 "" 0.248 0.446 0.347 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078922 423608 423608 197.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Cystatin C (30720) EFO_0004617 5.21e-17 5.21 -17 "" 0.126 0.202 0.164 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 1778.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" THBS4 3mm strong meridian left (5135) EFO_0004731 1.24e-19 1.24 -19 "" -0.334 -0.215 -0.274 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079301 103531 103531 889.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" STC2 Standing height (50) EFO_0004339 1.42e-37 1.42 -37 "" 0.125 0.171 0.148 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2532.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Arm predicted mass left (23126) EFO_0004302 1.86e-18 1.86 -18 "" -0.773 -0.49 -0.631 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 63.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IQGAP2 Reticulocyte count (30250) EFO_0007986 1.75e-12 1.75 -12 "" 0.073 0.129 0.101 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 4246.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC45A2 Ease of skin tanning - Get mildly or occasionally tanned (1727) EFO_0007009 4.3899999999999995e-25 4.39 -25 1.533 oddsRatioConfidenceIntervalLower 1.663 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077604 422570 93163 938.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLG ChildhoodAsthmaCases vs AllergicDiseaseControls (RGC) MONDO_0005405 1.64e-12 1.64 -12 1.514 oddsRatioConfidenceIntervalLower 1.699 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081473 297425 16952 373.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANGPTL8 HDL cholesterol (30760) EFO_0004612 8.18e-20 8.18 -20 "" 0.252 0.391 0.321 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 539.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK TAG ProbableT2D (RGC) MONDO_0005148 2.32e-21 2.32 -21 23.874 oddsRatioConfidenceIntervalLower 45.974 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081526 426342 17719 25.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Sitting height (20015) EFO_0011011 1.56e-73 1.56 -73 "" 0.13 0.162 0.146 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 6819.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Haemoglobin concentration (30020) EFO_0004509 5.33e-13 5.33 -13 "" -0.176 -0.101 -0.138 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1532.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PALB2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 1.01e-20 1.01 -20 4.663 oddsRatioConfidenceIntervalLower 6.443 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 63.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ENPP1 Phosphate (30810) EFO_0010968 7.26e-14 7.26 -14 "" -0.541 -0.316 -0.429 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 268.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGFALS Basal metabolic rate (23105) EFO_0007777 7.69e-13 7.69 -13 "" -0.123 -0.07 -0.096 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 1958.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOB Apolipoprotein A (30630) EFO_0004732 4.55e-13 4.55 -13 "" 0.178 0.31 0.244 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 632.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MIP Non cancer illness code self reported - cataract/ICD10 H26 MONDO_0005129 4.33e-14 4.33 -14 6.725 oddsRatioConfidenceIntervalLower 11.028 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077757 329052 7792 29.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Body mass index BMI (23104) EFO_0004340 6.49e-28 6.49 -28 "" 0.241 0.346 0.293 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078907 423694 423694 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NF1 ICD10 D36.1: Benign neoplasm of peripheral nerves and autonomic nervous system EFO_0002422 4.88e-35 4.88 -35 134.19 oddsRatioConfidenceIntervalLower 292.008 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079694 387929 616 20.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" PTPN11 Arm fat free mass right (23121) EFO_0004995 1.08e-11 1.08 -11 "" -0.27 -0.149 -0.21 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 332.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Standing height (50) EFO_0004339 6.05e-53 6.05 -53 "" -0.93 -0.719 -0.824 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 116.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HMGA2 Standing height (50) EFO_0004339 8.11e-12 8.11 -12 "" -0.648 -0.359 -0.504 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 62.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ABCB10 Mean corpuscular haemoglobin (30050) EFO_0004527 9.09e-12 9.09 -12 "" -0.247 -0.137 -0.192 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 986.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TSHR Non cancer illness code self reported - hypothyroidism myxoedema/ICD10 E03 EFO_0004705 1.45e-20 1.45 -20 2.358 oddsRatioConfidenceIntervalLower 2.825 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077731 329052 18362 176.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IRS1 Arm fat free mass left (23125) EFO_0004995 1.24e-19 1.24 -19 "" -0.538 -0.347 -0.442 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 140.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOC3 LipidLowering Med (RGC) EFO_0007010 7.56e-16 7.56 -16 0.585 oddsRatioConfidenceIntervalLower 0.667 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 282.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC ICD10 K31.7: Polyp of stomach and duodenum MONDO_0008277 3.37e-12 3.37 -12 17.688 oddsRatioConfidenceIntervalLower 39.717 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080210 387782 6198 13.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" SERPINH1 Standing height (50) EFO_0004339 9.97e-14 9.97 -14 "" -0.361 -0.21 -0.286 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 226.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Treatment or Medication Code - digoxin EFO_0007010 2.05e-12 2.05 -12 3.676 oddsRatioConfidenceIntervalLower 5.285 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078240 320758 1185 44.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LCORL Basal metabolic rate (23105) EFO_0007777 2.22e-14 2.22 -14 "" 0.269 0.455 0.362 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 157.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GMPR High light scatter reticulocyte percentage (30290) EFO_0010700 1.42e-36 1.42 -36 "" 0.252 0.344 0.298 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1583.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.1200000000000001e-22 1.12 -22 "" 1.661 2.491 2.076 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 19.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TYR Ease of skin tanning - Get very tanned (1727) EFO_0007009 3.2e-15 3.2 -15 0.427 oddsRatioConfidenceIntervalLower 0.528 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 84.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TNFRSF13B Total protein (30860) EFO_0004536 2.42e-15 2.42 -15 "" -0.27 -0.163 -0.217 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 1197.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RASA2 Lymphocyte percentage (30180) EFO_0007993 1.15e-16 1.15 -16 "" -0.306 -0.189 -0.248 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 970.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CSF2RB Eosinophil percentage (30210) EFO_0007991 9.62e-39 9.62 -39 "" -0.565 -0.417 -0.491 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 616.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IL17RA White blood cell leukocyte count (30000) EFO_0004308 2.5e-29 2.5 -29 "" -0.159 -0.112 -0.136 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 6119.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 6.53e-227 6.53 -227 "" -3.038 -2.689 -2.863 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 98.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PTPRH Mean sphered cell volume (30270) EFO_0004526 3.66e-12 3.66 -12 "" 0.075 0.134 0.104 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 3681.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LRP2 Creatinine (30700) EFO_0004518 4.09e-44 4.09 -44 "" -0.279 -0.21 -0.244 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 1876.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Forced vital capacity FVC Best measure (20151) EFO_0004312 4.79e-13 4.79 -13 "" -0.106 -0.061 -0.084 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078317 322002 322002 3321.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACAN Arm predicted mass left (23126) EFO_0004302 4.65e-17 4.65 -17 "" -0.552 -0.343 -0.448 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 115.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 3.2200000000000005e-64 3.22 -64 "" 1.638 2.067 1.853 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LPA Lipoprotein A (30790) EFO_0006925 1.3e-73 1.3 -73 "" -0.447 -0.36 -0.404 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079034 329317 329317 2027.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TERT Mean reticulocyte volume (30260) EFO_0010701 9.89e-15 9.89 -15 "" 0.336 0.563 0.45 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 247.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FGD1 Impedance of whole body (23106) HP_0000924 4.23e-12 4.23 -12 "" -0.605 -0.338 -0.472 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 61.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" B4GALNT3 Alkaline phosphatase (30610) EFO_0004533 1.16e-11 1.16 -11 "" 0.165 0.299 0.232 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 665.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Leg fat free mass left (23117) EFO_0004995 1.3e-16 1.3 -16 "" 0.264 0.429 0.346 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 197.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Trunk fat free mass (23129) EFO_0004995 5.9500000000000004e-21 5.95 -21 "" 0.137 0.209 0.173 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SPATA33 Skin colour - Light olive (1717) EFO_0003784 1.68e-14 1.68 -14 1.336 oddsRatioConfidenceIntervalLower 1.439 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 1082.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Leg fat free mass left (23117) EFO_0004995 5.18e-14 5.18 -14 "" 0.072 0.123 0.098 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 2067.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 High light scatter reticulocyte percentage (30290) EFO_0010700 7.55e-26 7.55 -26 "" 1.6 2.334 1.967 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 25.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" TTN ICD10 Z92.1: Personal history of long-term (current) use of anticoagulants (Z92.1) EFO_0000352 2.02e-13 2.02 -13 1.692 oddsRatioConfidenceIntervalLower 1.946 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081404 387930 15024 253.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FLG Non cancer illness code self reported - eczema dermatitis/ICD10 L30 EFO_0005319 1.04e-11 1.04 -11 1.611 oddsRatioConfidenceIntervalLower 1.848 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077854 329052 10233 252.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYRP1 Skin colour - Light olive (1717) EFO_0003784 5.87e-18 5.87 -18 0.769 oddsRatioConfidenceIntervalLower 0.816 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 1399.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GPLD1 Alkaline phosphatase (30610) EFO_0004533 1.5799999999999999e-62 1.58 -62 "" -0.765 -0.605 -0.685 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 466.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF1R Arm predicted mass right (23122) EFO_0004302 2.54e-18 2.54 -18 "" -0.25 -0.159 -0.204 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 568.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MYBPC3 ICD10 I42: Cardiomyopathy EFO_0000318 4.51e-25 4.51 -25 31.625 oddsRatioConfidenceIntervalLower 60.852 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 22.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" EPB41 Reticulocyte count (30250) EFO_0007986 1.5e-18 1.5 -18 "" 0.59 0.928 0.759 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 117.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" NOTCH1 Neutrophil percentage (30200) EFO_0007990 2.48e-20 2.48 -20 "" -1.545 -1.004 -1.274 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 47.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HMCN1 FEV1 FVC ratio Z score (20258) EFO_0004713 9.49e-22 9.49 -22 "" 0.136 0.206 0.171 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 2848.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CD36 Apolipoprotein A (30630) EFO_0004732 2.72e-28 2.72 -28 "" 0.202 0.289 0.245 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1459.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Ankle spacing width left (4100) EFO_0004324 5.54e-12 5.54 -12 "" 0.481 0.863 0.672 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079148 166283 166283 68.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Whole body fat free mass (23101) EFO_0004995 8.52e-23 8.52 -23 "" -0.13 -0.087 -0.109 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 2643.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANGPTL4 HDL cholesterol (30760) EFO_0004612 2.51e-14 2.51 -14 "" 0.153 0.258 0.205 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 929.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" WNT1 Heel bone mineral density BMD T score automated right (4125) EFO_0009270 1.64e-12 1.64 -12 "" -0.613 -0.347 -0.48 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079159 166358 166358 167.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHD2 Lymphocyte count (30120) EFO_0004587 3.37e-13 3.37 -13 "" 0.563 0.978 0.77 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 78.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC1R Hair colour natural before greying - Dark brown (1747) EFO_0007822 7.54e-173 7.54 -173 0.412 oddsRatioConfidenceIntervalLower 0.438 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 1306.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CCR2 Monocyte percentage (30190) EFO_0007989 4.68e-19 4.68 -19 "" -0.299 -0.191 -0.245 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 1084.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ALB Cholesterol (30690) EFO_0004574 1.39e-16 1.39 -16 "" 0.476 0.772 0.624 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 147.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LCORL Basal metabolic rate (23105) EFO_0007777 6.26e-15 6.26 -15 "" 0.216 0.361 0.289 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 257.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Whole body fat free mass (23101) EFO_0004995 2.09e-14 2.09 -14 "" 0.228 0.386 0.307 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 197.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Haematocrit percentage (30030) EFO_0004348 1.64e-27 1.64 -27 "" -1.101 -0.764 -0.932 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK OralDiabetes Med (RGC) EFO_0007010 1.98e-14 1.98 -14 4.366 oddsRatioConfidenceIntervalLower 6.369 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081503 320758 13132 46.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SHBG Speed of sound through heel (3146) EFO_0005654 4.73e-12 4.73 -12 "" 0.07 0.125 0.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 4045.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" WNT1 Sitting height (20015) EFO_0011011 1.12e-12 1.12 -12 "" -0.304 -0.173 -0.238 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 394.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PIEZO1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.06e-18 5.06 -18 "" 0.068 0.108 0.088 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 8354.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 4.65e-23 4.65 -23 "" 0.239 0.357 0.298 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 937.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BAK1 Platelet crit (30090) EFO_0007985 2.98e-19 2.98 -19 "" 0.209 0.326 0.268 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 863.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PLIN1 Reticulocyte count (30250) EFO_0007986 1.69e-11 1.69 -11 "" -0.278 -0.153 -0.216 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 840.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EGFL8 Non cancer illness code self reported - psoriasis/ICD10 L40 EFO_0000676 2.01e-16 2.01 -16 2.43 oddsRatioConfidenceIntervalLower 3.002 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077856 329052 4381 116.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SHBG SHBG (30830) EFO_0004696 2.2300000000000002e-307 2.23 -307 "" -1.314 -1.206 -1.26 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 961.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CEBPE Monocyte percentage (30190) EFO_0007989 8.21e-34 8.21 -34 "" 0.11 0.152 0.131 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 6983.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Non cancer illness code self reported - atrial fibrillation/ICD10 I48 EFO_0000275 1.07e-19 1.07 -19 3.535 oddsRatioConfidenceIntervalLower 4.642 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077882 329052 3763 79.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IQGAP2 Mean platelet thrombocyte volume (30100) EFO_0004584 4.71e-198 4.71 -198 "" 0.629 0.717 0.673 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1430.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SVEP1 Mean platelet thrombocyte volume (30100) EFO_0004584 7.21e-14 7.21 -14 "" -0.45 -0.263 -0.356 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 312.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCA1 HDL cholesterol (30760) EFO_0004612 5.44e-205 5.44 -205 "" -0.825 -0.725 -0.775 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1048.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN ICD10 I42.9: Cardiomyopathy, unspecified EFO_0000318 5.47e-17 5.47 -17 4.854 oddsRatioConfidenceIntervalLower 7.024 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079999 387930 681 45.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z92.3: Personal history of irradiation EFO_0000352 2.11e-17 2.11 -17 3.833 oddsRatioConfidenceIntervalLower 5.227 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081407 387929 4774 61.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GHRH Whole body fat free mass (23101) EFO_0004995 1.12e-13 1.12 -13 "" -0.442 -0.257 -0.35 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 143.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R Leg fat free mass right (23113) EFO_0004995 1.6200000000000002e-21 1.62 -21 "" -0.493 -0.325 -0.409 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 185.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" SLC5A3 Cystatin C (30720) EFO_0004617 4.45e-13 4.45 -13 "" 0.052 0.09 0.071 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 7011.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 Z99: Dependence on enabling machines and devices, not elsewhere classified EFO_0002571 2.89e-32 2.89 -32 20.905 oddsRatioConfidenceIntervalLower 34.6 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081445 385473 3699 35.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PLD1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.09e-27 1.09 -27 "" 0.186 0.267 0.226 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1988.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 3.2200000000000005e-64 3.22 -64 "" 1.638 2.067 1.853 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" JAK2 Platelet crit (30090) EFO_0007985 2.6499999999999997e-42 2.65 -42 "" 0.395 0.528 0.461 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 675.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TUBB1 Platelet crit (30090) EFO_0007985 3.9299999999999995e-52 3.93 -52 "" -0.171 -0.132 -0.151 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 7839.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR MI (RGC) EFO_0000612 1.85e-13 1.85 -13 2.104 oddsRatioConfidenceIntervalLower 2.565 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081495 422491 17896 140.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Hand grip strength right (47) EFO_0006941 1.1e-16 1.1 -16 "" -0.103 -0.064 -0.083 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 4480.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GAS8 Hair colour natural before greying - Dark brown (1747) EFO_0007822 1.18e-18 1.18 -18 0.796 oddsRatioConfidenceIntervalLower 0.838 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 2605.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLCO1B1 Direct bilirubin (30660) EFO_0004570 9.19e-33 9.19 -33 "" 0.285 0.398 0.341 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 823.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANGPTL3 Cholesterol (30690) EFO_0004574 1.9899999999999998e-62 1.99 -62 "" -0.582 -0.459 -0.521 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 867.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" JAK2 Platelet count (30080) EFO_0004309 1.68e-15 1.68 -15 "" 0.37 0.611 0.491 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 202.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" TET2 Eosinophil count (30150) EFO_0004842 4.24e-57 4.24 -57 "" -0.39 -0.305 -0.348 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 1791.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHEK2 Platelet crit (30090) EFO_0007985 5.370000000000001e-59 5.37 -59 "" 0.157 0.2 0.178 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 6987.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Body mass index BMI (21001) EFO_0004340 8.12e-28 8.12 -28 "" 0.27 0.387 0.329 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078684 429633 429633 952.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" A1CF Gamma glutamyltransferase (30730) EFO_0004532 5.26e-15 5.26 -15 "" 0.167 0.279 0.223 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 908.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SHBG Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 1.08e-11 1.08 -11 "" 0.067 0.122 0.095 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 4045.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS17 Standing height (50) EFO_0004339 4.55e-17 4.55 -17 "" -0.427 -0.265 -0.346 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 198.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TERT Mean corpuscular haemoglobin (30050) EFO_0004527 9.46e-18 9.46 -18 "" 0.375 0.598 0.486 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 241.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MYBPC3 ICD10 I42: Cardiomyopathy EFO_0000318 3.56e-13 3.56 -13 78.655 oddsRatioConfidenceIntervalLower 255.106 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 8.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" PKD1 ICD10 Z45.8: Encounter for adjustment and management of other implanted devices EFO_0004542 6.29e-12 6.29 -12 26.786 oddsRatioConfidenceIntervalLower 68.409 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081263 387930 1272 10.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" TET2 Mean platelet thrombocyte volume (30100) EFO_0004584 1.08e-15 1.08 -15 "" 0.121 0.199 0.16 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1794.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" KLF1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.19e-21 1.19 -21 "" 0.811 1.229 1.02 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 75.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 4.97e-15 4.97 -15 2.928 oddsRatioConfidenceIntervalLower 3.831 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 81.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean reticulocyte volume (30260) EFO_0010701 4.76e-47 4.76 -47 "" -1.529 -1.163 -1.346 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 96.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KDM5B Hand grip strength right (47) EFO_0006941 1.15e-14 1.15 -14 "" -0.415 -0.247 -0.331 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 245.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TMPRSS6 Haematocrit percentage (30030) EFO_0004348 6.33e-13 6.33 -13 "" -0.371 -0.212 -0.292 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 361.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC22A12 Urate (30880) EFO_0004531 7.16e-26 7.16 -26 "" -1.019 -0.699 -0.859 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9833 9833 106.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 ICD10 D69.6: Thrombocytopenia, unspecified HP_0001873 2.34e-12 2.34 -12 4.113 oddsRatioConfidenceIntervalLower 6.106 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079714 387579 1788 38.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MLH1 Type of Cancer: Malignant neoplasm of colon (40006) EFO_1001950 8.33e-19 8.33 -19 9.795 oddsRatioConfidenceIntervalLower 16.232 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079082 74230 3309 33.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RP11-545J16.1 Direct bilirubin (30660) EFO_0004570 1.69e-42 1.69 -42 "" 0.091 0.122 0.107 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 11312.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC13A1 Sitting height (20015) EFO_0011011 2.31e-16 2.31 -16 "" -0.096 -0.059 -0.078 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 4951.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Leg fat free mass left (23117) EFO_0004995 9.52e-13 9.52 -13 "" 0.259 0.456 0.357 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 138.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN HF (RGC) EFO_0003144 8.55e-30 8.55 -30 2.575 oddsRatioConfidenceIntervalLower 3.032 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081485 387050 8159 206.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PCSK9 Cholesterol (30690) EFO_0004574 4.27e-146 4.27 -146 "" -0.74 -0.636 -0.688 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 1188.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Sitting height (20015) EFO_0011011 3.56e-15 3.56 -15 "" 0.265 0.441 0.353 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 219.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TFRC Mean corpuscular volume (30040) EFO_0004526 1.17e-26 1.17 -26 "" -2.111 -1.457 -1.784 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 28.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" TUBB1 Platelet crit (30090) EFO_0007985 1.3399999999999999e-45 1.34 -45 "" -0.72 -0.545 -0.633 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 382.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS17 Comparative height size at age 10 - Taller (1697) EFO_0004339 7.85e-22 7.85 -22 0.681 oddsRatioConfidenceIntervalLower 0.736 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 784.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANKRD12 Lymphocyte percentage (30180) EFO_0007993 3.81e-16 3.81 -16 "" -0.531 -0.325 -0.428 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 312.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 ICD10 C78.6: Secondary malignant neoplasm of retroperitoneum and peritoneum EFO_0009812 5.610000000000001e-21 5.61 -21 7.467 oddsRatioConfidenceIntervalLower 11.356 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079623 387930 1833 39.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKHD1 Gamma glutamyltransferase (30730) EFO_0004532 1.1700000000000001e-21 1.17 -21 "" 0.09 0.136 0.113 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 5327.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UBR2 Leg fat mass right (23112) EFO_0005409 7.99e-12 7.99 -12 "" 0.307 0.553 0.43 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078915 423659 423659 141.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Haematocrit percentage (30030) EFO_0004348 2.71e-55 2.71 -55 "" -1.374 -1.068 -1.221 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 98.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MEPE Heel bone mineral density BMD T score automated (78) EFO_0009270 5.44e-38 5.44 -38 "" -0.417 -0.307 -0.362 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 985.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MSH6 Type of Cancer: Malignant neoplasm of corpus uteri (40006) EFO_0007532 1.81e-15 1.81 -15 5.815 oddsRatioConfidenceIntervalLower 8.972 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079110 41005 1612 38.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MLH1 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.92e-11 1.92 -11 4.988 oddsRatioConfidenceIntervalLower 7.975 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 33.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" GCK Glycated haemoglobin HbA1c (30750) EFO_0004541 1.43e-28 1.43 -28 "" 1.078 1.541 1.309 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 55.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IRS1 Standing height (50) EFO_0004339 2.81e-12 2.81 -12 "" -0.076 -0.043 -0.059 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 4783.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CAD Mean sphered cell volume (30270) EFO_0004526 1.2300000000000002e-21 1.23 -21 "" 0.129 0.196 0.162 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 2877.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LPL Triglycerides (30870) EFO_0004530 8.44e-19 8.44 -19 "" 0.539 0.845 0.692 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 134.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET1 Standing height (50) EFO_0004339 2.92e-15 2.92 -15 "" 0.238 0.395 0.316 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 208.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 Mother still alive - Yes (1835) EFO_0007796 6.18e-14 6.18 -14 0.617 oddsRatioConfidenceIntervalLower 0.7 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077615 423687 167942 491.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PAPPA2 Leg fat free mass right (23113) EFO_0004995 5.54e-14 5.54 -14 "" -0.138 -0.081 -0.11 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 1621.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANK1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.24e-12 1.24 -12 "" -0.262 -0.149 -0.205 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 917.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ASXL1 Age stopped smoking (2897) EFO_0004319 3.35e-16 3.35 -16 "" 0.277 0.451 0.364 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078969 108447 108447 458.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Leg fat percentage left (23115) EFO_0007800 1.54e-17 1.54 -17 "" 0.124 0.197 0.161 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078918 423643 423643 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANK1 Mean reticulocyte volume (30260) EFO_0010701 4.02e-16 4.02 -16 "" -0.121 -0.074 -0.098 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 5887.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GOT1 Aspartate aminotransferase (30650) EFO_0004736 9.1e-76 9.1 -76 "" -2.134 -1.724 -1.929 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 77.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Whole body fat free mass (23101) EFO_0004995 7.020000000000001e-26 7.02 -26 "" 0.139 0.203 0.171 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 1199.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC45A2 Ease of skin tanning - Get very tanned (1727) EFO_0007009 7.620000000000001e-35 7.62 -35 0.387 oddsRatioConfidenceIntervalLower 0.45 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 161.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ALPL Alkaline phosphatase (30610) EFO_0004533 1.6299999999999999e-91 1.63 -91 "" -2.215 -1.825 -2.02 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 79.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 5.88e-36 5.88 -36 18.39 oddsRatioConfidenceIntervalLower 29.01 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 41.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GIGYF1 Glycated haemoglobin HbA1c (30750) EFO_0004541 3.72e-16 3.72 -16 "" 0.507 0.829 0.668 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 114.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RHOF Mean platelet thrombocyte volume (30100) EFO_0004584 4.65e-17 4.65 -17 "" 0.456 0.734 0.595 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 150.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC22A12 Urate (30880) EFO_0004531 2.2300000000000002e-307 2.23 -307 "" -1.018 -0.953 -0.985 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 2246.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SRSF2 ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 8.580000000000001e-21 8.58 -21 17.087 oddsRatioConfidenceIntervalLower 30.973 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 24.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASXL1 Mean corpuscular haemoglobin (30050) EFO_0004527 6.34e-12 6.34 -12 "" -0.228 -0.127 -0.177 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1167.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PAPPA2 Trunk fat free mass (23129) EFO_0004995 2.87e-13 2.87 -13 "" -0.311 -0.179 -0.245 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 285.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IRS1 Leg predicted mass left (23118) EFO_0004302 1.2e-16 1.2 -16 "" -0.507 -0.313 -0.41 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 140.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Arm fat free mass left (23125) EFO_0004995 6.49e-22 6.49 -22 "" -0.13 -0.086 -0.108 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 2642.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MAP3K15 Glucose (30740) EFO_0004468 1.23e-18 1.23 -18 "" -0.127 -0.081 -0.104 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 3565.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NPR2 Standing height (50) EFO_0004339 2.09e-55 2.09 -55 "" -0.28 -0.218 -0.249 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1332.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SERPINH1 Standing height (50) EFO_0004339 2.72e-15 2.72 -15 "" -0.241 -0.145 -0.193 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 558.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GFI1B Platelet count (30080) EFO_0004309 4.33e-22 4.33 -22 "" -0.84 -0.557 -0.699 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 177.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Leg predicted mass left (23118) EFO_0004302 1.48e-50 1.48 -50 "" 0.093 0.121 0.107 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 6709.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 Mean sphered cell volume (30270) EFO_0004526 2.3e-13 2.3 -13 "" -1.685 -0.974 -1.329 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 25.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 1.7300000000000001e-29 1.73 -29 4.808 oddsRatioConfidenceIntervalLower 6.317 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 88.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OR10R2 Mean reticulocyte volume (30260) EFO_0010701 6.12e-12 6.12 -12 "" 0.086 0.155 0.12 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 2792.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD2 Cystatin C (30720) EFO_0004617 2.67e-17 2.67 -17 "" 0.521 0.836 0.678 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 105.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANGPTL3 LDL direct (30780) EFO_0004611 3.5000000000000003e-44 3.5 -44 "" -0.367 -0.276 -0.321 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 1640.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PCSK9 LDL direct (30780) EFO_0004611 3.23e-44 3.23 -44 "" -0.855 -0.644 -0.75 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8527 8527 319.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CUBN Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 9.79e-22 9.79 -22 "" 0.227 0.344 0.286 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 1034.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHEK2 Neutrophil count (30140) EFO_0004833 3.6999999999999996e-25 3.7 -25 "" 0.099 0.146 0.123 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 6980.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MEPE Heel quantitative ultrasound index QUI direct entry left (4104) EFO_0004514 4.6899999999999996e-24 4.69 -24 "" -0.419 -0.283 -0.351 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079151 166283 166283 651.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANGPTL7 6mm weak meridian right (5098) EFO_0004731 4.22e-18 4.22 -18 "" 0.149 0.236 0.192 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 1648.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A10 Total bilirubin (30840) EFO_0004570 4.83e-17 4.83 -17 "" 0.337 0.543 0.44 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9811 9811 354.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean reticulocyte volume (30260) EFO_0010701 4.76e-47 4.76 -47 "" -1.529 -1.163 -1.346 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 96.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS17 Impedance of leg left (23108) HP_0000924 3.15e-13 3.15 -13 "" -0.123 -0.071 -0.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 4065.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS17 Standing height (50) EFO_0004339 7.7e-41 7.7 -41 "" -0.445 -0.332 -0.389 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 399.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Monocyte percentage (30190) EFO_0007989 9.81e-31 9.81 -31 "" 0.204 0.287 0.246 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 1791.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOB Cholesterol (30690) EFO_0004574 5.690000000000001e-163 5.69 -163 "" -1.497 -1.296 -1.396 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 321.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APC ICD10 K91: Intraoperative and postprocedural complications and disorders of digestive system, not elsewhere classified EFO_0000405 1.1e-15 1.1 -15 31.771 oddsRatioConfidenceIntervalLower 74.012 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080318 387834 2050 13.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IL17RA Lymphocyte percentage (30180) EFO_0007993 7.71e-14 7.71 -14 "" 0.066 0.113 0.089 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 6105.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MIP ICD10 H26: Other cataract MONDO_0005129 3.13e-13 3.13 -13 26.21 oddsRatioConfidenceIntervalLower 63.081 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079893 384442 20291 14.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APOB LDL direct (30780) EFO_0004611 2.2300000000000002e-307 2.23 -307 "" -1.778 -1.64 -1.709 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 699.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Trunk fat free mass (23129) EFO_0004995 5.7e-15 5.7 -15 "" 0.253 0.423 0.338 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 170.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HMCN1 FEV1 FVC ratio Z score (20258) EFO_0004713 8.58e-28 8.58 -28 "" 0.065 0.094 0.079 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 17949.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TFRC Red blood cell erythrocyte count (30010) EFO_0004305 8.4e-14 8.4 -14 "" 0.814 1.394 1.104 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 28.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" APOC3 Creatinine (30700) EFO_0004518 1.4e-11 1.4 -11 "" 0.078 0.142 0.11 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 2156.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTA1 Direct bilirubin (30660) EFO_0004570 4.1200000000000004e-27 4.12 -27 "" 0.393 0.567 0.48 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 333.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A10 Direct bilirubin (30660) EFO_0004570 1.72e-59 1.72 -59 "" 0.311 0.396 0.353 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1766.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TSHR Non cancer illness code self reported - hypothyroidism myxoedema EFO_0004705 1.04e-18 1.04 -18 3.398 oddsRatioConfidenceIntervalLower 4.457 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 90.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TYRP1 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 5.5e-21 5.5 -21 1.836 oddsRatioConfidenceIntervalLower 2.084 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 402.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC22A2 Creatinine (30700) EFO_0004518 1.01e-15 1.01 -15 "" 0.251 0.413 0.332 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 331.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APOB Cholesterol (30690) EFO_0004574 1.3400000000000001e-148 1.34 -148 "" -0.518 -0.445 -0.481 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 2472.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OCA2 Hair colour natural before greying - Blonde (1747) EFO_0007822 2.5399999999999997e-23 2.54 -23 6.993 oddsRatioConfidenceIntervalLower 10.257 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 62.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" KLF1 Mean corpuscular haemoglobin (30050) EFO_0004527 2.62e-86 2.62 -86 "" -1.027 -0.841 -0.934 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 348.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" WNT1 Heel bone mineral density BMD right (4124) EFO_0009270 5.88e-13 5.88 -13 "" -0.628 -0.359 -0.493 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079158 166266 166266 164.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PCSK9 Apolipoprotein B (30640) EFO_0004615 4.45e-34 4.45 -34 "" -0.941 -0.68 -0.811 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8474 8474 216.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IL17RA Monocyte count (30130) EFO_0005091 1.76e-17 1.76 -17 "" -0.725 -0.454 -0.589 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 166.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 Lymphocyte percentage (30180) EFO_0007993 5.01e-14 5.01 -14 "" -0.499 -0.293 -0.396 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 314.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PLIN1 Apolipoprotein A (30630) EFO_0004732 5.06e-13 5.06 -13 "" 0.162 0.283 0.223 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 766.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MYO6 Hearing aid user - Yes (3393) EFO_0009720 3.46e-25 3.46 -25 9.262 oddsRatioConfidenceIntervalLower 14.108 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079053 281979 15741 49.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Hand grip strength right (47) EFO_0006941 1.34e-15 1.34 -15 "" -0.129 -0.078 -0.104 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 2692.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PALB2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 3.46e-15 3.46 -15 2.354 oddsRatioConfidenceIntervalLower 2.914 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 122.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Systolic blood pressure automated reading (4080) EFO_0006335 1.93e-15 1.93 -15 "" -0.176 -0.106 -0.141 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079146 408211 408211 2574.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LDLR MI CC (RGC) EFO_0000612 2.78e-12 2.78 -12 2.127 oddsRatioConfidenceIntervalLower 2.629 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081494 363523 15475 123.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANKRD12 Townsend deprivation index at recruitment (189) EFO_0009711 3.55e-14 3.55 -14 "" 0.305 0.518 0.412 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077617 430494 430494 318.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOB Apolipoprotein B (30640) EFO_0004615 1.9e-141 1.9 -141 "" -1.679 -1.438 -1.559 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 223.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ALPL Phosphate (30810) EFO_0010968 5.7e-149 5.7 -149 "" 0.539 0.626 0.582 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 1750.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB Triglycerides (30870) EFO_0004530 2.11e-22 2.11 -22 "" -0.629 -0.418 -0.523 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 281.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" PIEZO1 ICD10 I83.9: Asymptomatic varicose veins of lower extremities HP_0002619 1.35e-12 1.35 -12 1.521 oddsRatioConfidenceIntervalLower 1.708 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080065 387815 11767 349.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APC ICD10 K31.7: Polyp of stomach and duodenum MONDO_0008277 1.7e-15 1.7 -15 16.091 oddsRatioConfidenceIntervalLower 31.887 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080210 387782 6198 18.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK Metformin Med (RGC) EFO_0007010 5.16e-13 5.16 -13 4.223 oddsRatioConfidenceIntervalLower 6.243 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081499 320758 12065 42.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK ICD10 E11.9: Type 2 diabetes mellitus without complications MONDO_0005148 1.0500000000000001e-32 1.05 -32 6.181 oddsRatioConfidenceIntervalLower 8.341 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079741 385838 26590 87.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean corpuscular volume (30040) EFO_0004526 8.8e-232 8.8 -232 "" -3.069 -2.72 -2.894 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 98.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ASXL1 Monocyte count (30130) EFO_0005091 1e-12 10.0 -13 "" 0.075 0.131 0.103 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 3854.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOA1 Apolipoprotein A (30630) EFO_0004732 2.4900000000000004e-32 2.49 -32 "" -2.25 -1.611 -1.93 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 27.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MSH2 ICD10 Z08.0: Follow-up examination after surgery for malignant neoplasm (Z08.0) EFO_0004542 2.92e-15 2.92 -15 17.535 oddsRatioConfidenceIntervalLower 35.706 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081197 387930 4711 17.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TUBB1 Platelet distribution width (30110) EFO_0007984 1.0600000000000001e-85 1.06 -85 "" 1.697 2.074 1.886 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 89.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RTTN Mean corpuscular volume (30040) EFO_0004526 1.79e-12 1.79 -12 "" -0.078 -0.044 -0.061 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 10444.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTA1 Reticulocyte count (30250) EFO_0007986 6.16e-39 6.16 -39 "" 0.599 0.811 0.705 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 299.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" OCA2 Ease of skin tanning - Get mildly or occasionally tanned (1727) EFO_0007009 3.4000000000000004e-74 3.4 -74 1.509 oddsRatioConfidenceIntervalLower 1.578 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077604 422570 93163 3129.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 C78.6: Secondary malignant neoplasm of retroperitoneum and peritoneum EFO_0009812 3.04e-12 3.04 -12 8.118 oddsRatioConfidenceIntervalLower 14.62 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079623 387930 1833 20.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Trunk predicted mass (23130) EFO_0004324 3.39e-21 3.39 -21 "" 0.122 0.185 0.153 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 1200.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" DTL Standing height (50) EFO_0004339 2.39e-21 2.39 -21 "" -0.29 -0.191 -0.24 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 530.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Arm fat free mass right (23121) EFO_0004995 2.51e-62 2.51 -62 "" 0.101 0.128 0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 6709.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IL33 Eosinophil count (30150) EFO_0004842 5.13e-74 5.13 -74 "" -0.265 -0.213 -0.239 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 4992.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR ICD10 E78.00: Pure hypercholesterolemia, unspecified HP_0003124 2.16e-21 2.16 -21 3.634 oddsRatioConfidenceIntervalLower 4.742 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079765 375399 5498 83.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Whole body fat free mass (23101) EFO_0004995 2.89e-16 2.89 -16 "" 0.219 0.357 0.288 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 257.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 ICD10 I12: Hypertensive chronic kidney disease MONDO_0024633 1.08e-21 1.08 -21 6.971 oddsRatioConfidenceIntervalLower 10.375 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079964 387912 1660 43.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" DNMT3A ICD10 C92: Myeloid leukemia EFO_0002427 9.68e-12 9.68 -12 4.156 oddsRatioConfidenceIntervalLower 6.262 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 35.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ATM ICD10 C50: Malignant neoplasm of breast EFO_0003869 2.61e-16 2.61 -16 2.759 oddsRatioConfidenceIntervalLower 3.518 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 99.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 1.24e-18 1.24 -18 "" -2.998 -1.907 -2.452 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 10.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" APC ICD10 D13.1: Benign neoplasm of stomach MONDO_0021449 6.11e-12 6.11 -12 7.238 oddsRatioConfidenceIntervalLower 12.722 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079663 387930 1028 21.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APOB Aspartate aminotransferase (30650) EFO_0004736 3.05e-18 3.05 -18 "" 0.233 0.368 0.3 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 697.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR LipidLowering Med (RGC) EFO_0007010 3.93e-108 3.93 -108 3.677 oddsRatioConfidenceIntervalLower 4.127 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 726.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APEH Haemoglobin concentration (30020) EFO_0004509 6.19e-15 6.19 -15 "" -0.234 -0.14 -0.187 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 975.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ABCA1 Apolipoprotein A (30630) EFO_0004732 2.22e-184 2.22 -184 "" -1.436 -1.254 -1.345 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 333.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CASR Calcium (30680) EFO_0004838 6.41e-32 6.41 -32 "" 0.904 1.266 1.085 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 108.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" MEPE Heel bone mineral density BMD T score automated (78) EFO_0009270 9.15e-15 9.15 -15 "" -0.403 -0.24 -0.321 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 453.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 1.18e-12 1.18 -12 10.874 oddsRatioConfidenceIntervalLower 20.998 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 17.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SPSB3 Leg predicted mass left (23118) EFO_0004302 7.57e-17 7.57 -17 "" -0.075 -0.046 -0.061 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 6512.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A6 Total bilirubin (30840) EFO_0004570 2.12e-18 2.12 -18 "" 0.383 0.604 0.494 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 269.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HGF SHBG (30830) EFO_0004696 1.8e-12 1.8 -12 "" -0.242 -0.136 -0.189 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 945.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR DD vascular heart problems - Angina (6150) EFO_0003913 1.29e-14 1.29 -14 2.334 oddsRatioConfidenceIntervalLower 2.895 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079443 129643 14103 132.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBA2 Mean corpuscular volume (30040) EFO_0004526 5.37e-17 5.37 -17 "" -0.353 -0.219 -0.286 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1039.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NF1 Neutrophil count (30140) EFO_0004833 2.64e-14 2.64 -14 "" 0.364 0.617 0.491 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 214.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC34A3 Cystatin C (30720) EFO_0004617 1.4800000000000002e-43 1.48 -43 "" 0.165 0.219 0.192 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 3539.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" B4GALNT3 Alkaline phosphatase (30610) EFO_0004533 1.16e-11 1.16 -11 "" 0.165 0.299 0.232 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 665.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 Treatment or Medication Code - prednisolone EFO_0007010 1e-16 10.0 -17 14.658 oddsRatioConfidenceIntervalLower 27.624 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078076 320758 2671 20.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GJB2 Hearing difficulty problems - Yes (2247) EFO_0007616 2.55e-13 2.55 -13 1.197 oddsRatioConfidenceIntervalLower 1.256 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 2612.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 Treatment or Medication Code - doxazosin EFO_0007010 1.22e-12 1.22 -12 7.583 oddsRatioConfidenceIntervalLower 13.263 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078093 320758 5111 23.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TFR2 Haemoglobin concentration (30020) EFO_0004509 1.7e-20 1.7 -20 "" 0.094 0.145 0.12 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 3379.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CXCR4 Neutrophil count (30140) EFO_0004833 6.29e-19 6.29 -19 "" 0.351 0.55 0.45 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 345.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MSH6 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 8.99e-16 8.99 -16 5.282 oddsRatioConfidenceIntervalLower 7.925 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 46.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ADAMTS17 Comparative height size at age 10 - Shorter (1697) EFO_0004339 5.83e-20 5.83 -20 1.415 oddsRatioConfidenceIntervalLower 1.525 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 1083.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LRP2 Creatinine (30700) EFO_0004518 5.04e-50 5.04 -50 "" -0.183 -0.14 -0.161 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 4937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ARHGAP25 Monocyte count (30130) EFO_0005091 2.43e-20 2.43 -20 "" 0.08 0.123 0.102 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 6671.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 Mean sphered cell volume (30270) EFO_0004526 4.46e-21 4.46 -21 "" -0.545 -0.357 -0.451 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 359.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IRS1 Seated height (51) EFO_0011011 2.48e-12 2.48 -12 "" -0.534 -0.301 -0.417 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 145.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Trunk predicted mass (23130) EFO_0004324 6.69e-15 6.69 -15 "" 0.252 0.421 0.336 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 170.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 Z94: Transplanted organ and tissue status EFO_0002571 6.55e-53 6.55 -53 36.558 oddsRatioConfidenceIntervalLower 57.952 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081418 387906 1305 46.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" MSH6 ICD10 C54: Malignant neoplasm of corpus uteri EFO_0007532 2.95e-15 2.95 -15 3.888 oddsRatioConfidenceIntervalLower 5.447 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079608 211679 1515 52.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.75e-114 1.75 -114 "" 1.941 2.307 2.124 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 98.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 1.24e-30 1.24 -30 8.852 oddsRatioConfidenceIntervalLower 12.835 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 53.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC1R Ease of skin tanning - Get mildly or occasionally tanned (1727) EFO_0007009 5.98e-25 5.98 -25 1.373 oddsRatioConfidenceIntervalLower 1.458 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077604 422570 93163 1599.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOC3 HDL cholesterol (30760) EFO_0004612 2.73e-50 2.73 -50 "" 0.663 0.863 0.763 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 259.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 6mm strong meridian left (5134) EFO_0004731 2.65e-16 2.65 -16 "" 0.632 1.029 0.83 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079300 89735 89735 77.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GAS8 Skin colour - Very fair (1717) EFO_0003784 2.92e-20 2.92 -20 1.433 oddsRatioConfidenceIntervalLower 1.547 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 846.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean corpuscular volume (30040) EFO_0004526 1.92e-18 1.92 -18 "" -2.985 -1.893 -2.439 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 10.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" RHAG Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.51e-17 3.51 -17 "" 0.169 0.271 0.22 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 1351.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Whole body fat free mass (23101) EFO_0004995 8.52e-23 8.52 -23 "" -0.13 -0.087 -0.109 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 2643.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LCAT HDL cholesterol (30760) EFO_0004612 1.1500000000000001e-29 1.15 -29 "" -1.474 -1.039 -1.256 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 57.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PDE3B Leg predicted mass right (23114) EFO_0004302 6.41e-12 6.41 -12 "" 0.082 0.148 0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 1200.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RORC Gamma glutamyltransferase (30730) EFO_0004532 3.82e-40 3.82 -40 "" 0.181 0.244 0.213 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 2890.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MPO White blood cell leukocyte count (30000) EFO_0004308 1.33e-19 1.33 -19 "" 0.06 0.093 0.077 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 12724.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PFKM Glycated haemoglobin HbA1c (30750) EFO_0004541 3.7e-16 3.7 -16 "" -0.378 -0.232 -0.305 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 547.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC22A11 Testosterone (30850) EFO_0004908 3.49e-12 3.49 -12 "" -0.085 -0.048 -0.066 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079042 373826 373826 3875.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SCUBE3 Standing height (50) EFO_0004339 1.8e-33 1.8 -33 "" -0.232 -0.167 -0.2 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1235.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IL17RA Monocyte percentage (30190) EFO_0007989 1.16e-11 1.16 -11 "" -0.61 -0.337 -0.473 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 166.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TMPRSS6 Mean corpuscular volume (30040) EFO_0004526 1.96e-38 1.96 -38 "" -0.695 -0.513 -0.604 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 361.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ASXL1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.63e-78 2.63 -78 "" 0.453 0.559 0.506 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1167.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC34A3 Cystatin C (30720) EFO_0004617 1.59e-19 1.59 -19 "" 0.162 0.252 0.207 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 1282.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 4.8e-26 4.8 -26 "" 1.759 2.561 2.16 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 21.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PRSS56 3mm weak meridian right (5099) EFO_0004731 7.62e-12 7.62 -12 "" 0.32 0.577 0.449 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 188.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NPC1 Mean corpuscular haemoglobin (30050) EFO_0004527 3.97e-12 3.97 -12 "" -0.159 -0.089 -0.124 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 2745.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PTPRJ Mean platelet thrombocyte volume (30100) EFO_0004584 7.23e-25 7.23 -25 "" -0.581 -0.395 -0.488 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 317.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HNF1A ICD10 E11.9: Type 2 diabetes mellitus without complications MONDO_0005148 1.04e-11 1.04 -11 5.844 oddsRatioConfidenceIntervalLower 9.72 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079741 385838 26590 29.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS3 Impedance of whole body (23106) HP_0000924 2.25e-20 2.25 -20 "" -0.169 -0.11 -0.14 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 2184.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I47: Paroxysmal tachycardia EFO_0009493 1.19e-13 1.19 -13 2.351 oddsRatioConfidenceIntervalLower 2.946 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080013 387060 4268 101.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FCGRT Calcium (30680) EFO_0004838 5.59e-12 5.59 -12 "" -0.981 -0.546 -0.764 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 74.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" DNMT3A Eosinophil percentage (30210) EFO_0007991 7.13e-14 7.13 -14 "" -0.129 -0.075 -0.102 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 4765.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GMPR Red blood cell erythrocyte count (30010) EFO_0004305 4.7e-13 4.7 -13 "" -0.181 -0.104 -0.142 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 1619.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Trunk predicted mass (23130) EFO_0004324 9.66e-25 9.66 -25 "" -0.135 -0.092 -0.113 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 2640.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PALB2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 2.6600000000000002e-21 2.66 -21 4.095 oddsRatioConfidenceIntervalLower 5.481 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 77.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 7.71e-26 7.71 -26 3.079 oddsRatioConfidenceIntervalLower 3.798 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 126.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RHAG Glycated haemoglobin HbA1c (30750) EFO_0004541 6.25e-67 6.25 -67 "" -0.788 -0.627 -0.708 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 457.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC4A1 Direct bilirubin (30660) EFO_0004570 4.2e-12 4.2 -12 "" 0.128 0.23 0.179 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 990.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TYR Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 1.35e-11 1.35 -11 0.693 oddsRatioConfidenceIntervalLower 0.77 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 501.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" WNT1 Heel bone mineral density BMD T score automated left (4106) EFO_0009270 3.12e-13 3.12 -13 "" -0.638 -0.368 -0.503 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079153 166283 166283 164.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IFRD2 Reticulocyte percentage (30240) EFO_0010700 1.71e-78 1.71 -78 "" 0.318 0.393 0.356 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 2475.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MSH6 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 1.62e-12 1.62 -12 3.755 oddsRatioConfidenceIntervalLower 5.42 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 44.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PALB2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 2.08e-26 2.08 -26 5.348 oddsRatioConfidenceIntervalLower 7.284 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 72.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPSB3 Impedance of leg right (23107) HP_0000924 4.02e-12 4.02 -12 "" 0.052 0.093 0.072 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 6518.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MFRP MeanSphericalEquivalent started wearing glasses contacts before 40 (RGC) EFO_0004731 1.89e-15 1.89 -15 "" 0.341 0.564 0.452 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081498 48482 48482 271.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PTPRJ Trunk fat free mass (23129) EFO_0004995 1.57e-11 1.57 -11 "" -0.276 -0.152 -0.214 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 316.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" COL4A4 Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 2.89e-20 2.89 -20 "" 0.615 0.947 0.781 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 128.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" COL4A4 Urate (30880) EFO_0004531 1.02e-14 1.02 -14 "" 0.173 0.291 0.232 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 683.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean corpuscular volume (30040) EFO_0004526 6.05e-108 6.05 -108 "" -2.412 -2.018 -2.215 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PCSK9 LipidLowering Med (RGC) EFO_0007010 1.17e-14 1.17 -14 0.484 oddsRatioConfidenceIntervalLower 0.582 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 129.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPG7 Skin colour - Light olive (1717) EFO_0003784 1.93e-12 1.93 -12 0.84 oddsRatioConfidenceIntervalLower 0.882 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 2118.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGFALS IGF 1 (30770) EFO_0004627 1.1099999999999998e-106 1.11 -106 "" -0.582 -0.487 -0.534 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1352.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MEN1 ICD10 E21: Hyperparathyroidism and other disorders of parathyroid gland EFO_0008506 8.13e-23 8.13 -23 737.503 oddsRatioConfidenceIntervalLower 2750.38 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079753 387625 1168 10.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EDEM1 Alkaline phosphatase (30610) EFO_0004533 7.600000000000001e-28 7.6 -28 "" 0.251 0.36 0.306 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 990.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC4A1 Reticulocyte percentage (30240) EFO_0010700 3.9299999999999995e-23 3.93 -23 "" 0.395 0.59 0.493 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 359.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MEPE Heel bone mineral density BMD left (4105) EFO_0009270 4.0499999999999995e-23 4.05 -23 "" -0.411 -0.275 -0.343 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079152 166186 166186 649.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CUBN Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 5.61e-20 5.61 -20 "" 0.095 0.147 0.121 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 5449.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GIGYF1 Education score England (26414) EFO_0011015 1.97e-13 1.97 -13 "" 0.456 0.787 0.621 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078953 369491 369491 132.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTA1 Mean reticulocyte volume (30260) EFO_0010701 1.09e-43 1.09 -43 "" -0.764 -0.575 -0.669 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 365.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PIEZO1 High light scatter reticulocyte count (30300) EFO_0007986 9.81e-17 9.81 -17 "" 0.039 0.063 0.051 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 23926.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 High light scatter reticulocyte percentage (30290) EFO_0010700 1.73e-25 1.73 -25 "" 0.189 0.276 0.233 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1767.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Forced vital capacity FVC Best measure (20151) EFO_0004312 9.65e-18 9.65 -18 "" 0.062 0.098 0.08 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078317 322002 322002 5104.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 Standing height (50) EFO_0004339 2.7e-15 2.7 -15 "" -0.483 -0.291 -0.387 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 140.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" NF1 Lymphocyte percentage (30180) EFO_0007993 1.95e-11 1.95 -11 "" -0.374 -0.205 -0.29 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 465.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" APEH Glycated haemoglobin HbA1c (30750) EFO_0004541 2.96e-15 2.96 -15 "" 0.169 0.281 0.225 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 945.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TP53 ICD10 C91: Lymphoid leukemia EFO_0004289 4.42e-15 4.42 -15 23.343 oddsRatioConfidenceIntervalLower 51.298 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 14.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SPTA1 Reticulocyte count (30250) EFO_0007986 6.46e-13 6.46 -13 "" 0.53 0.927 0.729 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 85.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" MSH6 Type of Cancer: Malignant neoplasm of endometrium (40006) MONDO_0011962 8.82e-16 8.82 -16 5.978 oddsRatioConfidenceIntervalLower 9.243 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079109 41005 1536 38.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MYO6 hearing loss (RGC) EFO_0004238 6.39e-20 6.39 -20 5.805 oddsRatioConfidenceIntervalLower 8.465 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 93.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TET2 Reticulocyte count (30250) EFO_0007986 2.11e-15 2.11 -15 "" 0.143 0.237 0.19 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1508.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CAD Mean reticulocyte volume (30260) EFO_0010701 8.36e-62 8.36 -62 "" 0.929 1.178 1.054 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 208.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SRSF2 ICD10 A41.9: Sepsis, unspecified organism HP_0100806 1.99e-19 1.99 -19 11.6 oddsRatioConfidenceIntervalLower 19.766 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079545 387517 4673 28.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SRSF2 Reticulocyte percentage (30240) EFO_0010700 3.18e-38 3.18 -38 "" 0.782 1.061 0.921 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 175.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MYBPC3 ICD10 I42: Cardiomyopathy EFO_0000318 4.51e-25 4.51 -25 31.625 oddsRatioConfidenceIntervalLower 60.852 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 22.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Haemoglobin concentration (30020) EFO_0004509 1.92e-13 1.92 -13 "" -1.765 -1.022 -1.394 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 21.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GCK ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 4.52e-24 4.52 -24 23.55 oddsRatioConfidenceIntervalLower 43.422 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 32.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTB Mean sphered cell volume (30270) EFO_0004526 3.0699999999999998e-24 3.07 -24 "" -1.244 -0.842 -1.043 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 78.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" NR1I3 Total bilirubin (30840) EFO_0004570 5.83e-15 5.83 -15 "" 0.145 0.241 0.193 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1017.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NOTCH1 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 1.1100000000000001e-32 1.11 -32 306.222 oddsRatioConfidenceIntervalLower 785.793 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 17.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF1R IGF 1 (30770) EFO_0004627 7.11e-13 7.11 -13 "" 0.123 0.216 0.169 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1432.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPTA1 Mean reticulocyte volume (30260) EFO_0010701 1.09e-43 1.09 -43 "" -0.764 -0.575 -0.669 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 365.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR LDL direct (30780) EFO_0004611 1.66e-59 1.66 -59 "" 0.358 0.456 0.407 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 1450.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC7A9 Creatinine (30700) EFO_0004518 1.84e-18 1.84 -18 "" -0.141 -0.09 -0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 3310.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TFRC Mean corpuscular haemoglobin (30050) EFO_0004527 5.68e-55 5.68 -55 "" -1.665 -1.294 -1.479 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 87.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACAN Whole body fat free mass (23101) EFO_0004995 3.0200000000000002e-22 3.02 -22 "" -0.827 -0.549 -0.688 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 63.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LCAT HDL cholesterol (30760) EFO_0004612 1.1500000000000001e-29 1.15 -29 "" -1.474 -1.039 -1.256 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 57.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SPTA1 Reticulocyte percentage (30240) EFO_0010700 2.15e-14 2.15 -14 "" 0.583 0.985 0.784 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 85.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" TYRP1 Hair colour natural before greying - Dark brown (1747) EFO_0007822 1.92e-36 1.92 -36 0.459 oddsRatioConfidenceIntervalLower 0.519 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 364.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOB Alanine aminotransferase (30620) EFO_0004735 6.23e-18 6.23 -18 "" 0.227 0.36 0.293 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 700.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 ICD10 D70: Neutropenia MONDO_0001475 3.69e-12 3.69 -12 3.439 oddsRatioConfidenceIntervalLower 4.872 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079716 387075 4407 47.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FANCA Skin colour - Very fair (1717) EFO_0003784 1.98e-14 1.98 -14 0.692 oddsRatioConfidenceIntervalLower 0.761 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 428.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 Treatment or Medication Code - doxazosin EFO_0007010 2.9e-14 2.9 -14 9.33 oddsRatioConfidenceIntervalLower 16.593 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078093 320758 5111 23.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" COL4A3 Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 1.13e-18 1.13 -18 "" 0.382 0.601 0.492 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 296.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" WNT1 Non cancer illness code self reported - osteoporosis EFO_0003882 1.47e-11 1.47 -11 5.102 oddsRatioConfidenceIntervalLower 8.188 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077779 331754 7730 30.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RBL1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 7.99e-15 7.99 -15 "" 0.16 0.267 0.214 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1122.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OCA2 Age started wearing glasses or contact lenses (2217) EFO_0004847 1.23e-25 1.23 -25 "" -0.125 -0.086 -0.105 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078869 374837 374837 9443.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KLF1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 1.62e-13 1.62 -13 "" -0.481 -0.279 -0.38 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 348.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HNF1A Non cancer illness code self reported - diabetes/ICD10 E14 EFO_0000400 1.06e-11 1.06 -11 7.369 oddsRatioConfidenceIntervalLower 13.106 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077723 329052 16961 23.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PDE3B Apolipoprotein A (30630) EFO_0004732 1.8700000000000003e-27 1.87 -27 "" 0.176 0.254 0.215 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1841.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 High light scatter reticulocyte count (30300) EFO_0007986 1.43e-16 1.43 -16 "" 0.151 0.245 0.198 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1495.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IQGAP2 High light scatter reticulocyte count (30300) EFO_0007986 2.56e-14 2.56 -14 "" 0.141 0.238 0.189 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1400.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SHBG SHBG (30830) EFO_0004696 2.1800000000000001e-97 2.18 -97 "" -1.205 -0.999 -1.102 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 261.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 4.0600000000000004e-32 4.06 -32 3.738 oddsRatioConfidenceIntervalLower 4.654 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 141.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Platelet count (30080) EFO_0004309 1.64e-17 1.64 -17 "" -0.217 -0.136 -0.176 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1779.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GP1BA Platelet count (30080) EFO_0004309 2.4699999999999998e-46 2.47 -46 "" -0.472 -0.358 -0.415 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 900.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MEPE Heel broadband ultrasound attenuation left (4101) EFO_0004514 1.56e-18 1.56 -18 "" -0.345 -0.219 -0.282 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079149 166276 166276 747.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MSH2 ICD10 Z80.0: Family history of malignant neoplasm of digestive organs EFO_0009640 7.65e-13 7.65 -13 4.742 oddsRatioConfidenceIntervalLower 7.257 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081329 385471 9455 35.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 2.2300000000000002e-307 2.23 -307 "" -1.345 -1.283 -1.314 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 3248.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OR6F1 Mean platelet thrombocyte volume (30100) EFO_0004584 3.52e-16 3.52 -16 "" -0.14 -0.086 -0.113 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 3809.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Leg fat free mass right (23113) EFO_0004995 2.68e-14 2.68 -14 "" 0.206 0.349 0.278 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 257.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GGT1 Gamma glutamyltransferase (30730) EFO_0004532 7.2e-52 7.2 -52 "" -1.539 -1.186 -1.362 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 94.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Reticulocyte percentage (30240) EFO_0010700 2.4e-25 2.4 -25 "" 0.189 0.277 0.233 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1767.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ABCB10 Mean corpuscular haemoglobin (30050) EFO_0004527 3.22e-14 3.22 -14 "" -0.283 -0.167 -0.225 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 892.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PAPPA2 Whole body water mass (23102) EFO_0009805 9.33e-12 9.33 -12 "" -0.295 -0.163 -0.229 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 285.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CLSPN Mean corpuscular volume (30040) EFO_0004526 4.58e-13 4.58 -13 "" 0.38 0.661 0.521 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 151.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APC ICD10 Z83: Family history of other specific disorders EFO_0000493 4.36e-15 4.36 -15 18.592 oddsRatioConfidenceIntervalLower 38.592 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081343 376753 4125 16.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RRBP1 LDL direct (30780) EFO_0004611 5.51e-12 5.51 -12 "" -0.856 -0.477 -0.666 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 92.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" APC ICD10 D13.1: Benign neoplasm of stomach MONDO_0021449 4.6200000000000004e-27 4.62 -27 91.43 oddsRatioConfidenceIntervalLower 207.911 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079663 387930 1028 17.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MYO6 Hearing difficulty problems - Yes (2247) EFO_0007616 1.55e-17 1.55 -17 3.939 oddsRatioConfidenceIntervalLower 5.399 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 99.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TET2 Mean platelet thrombocyte volume (30100) EFO_0004584 1.08e-15 1.08 -15 "" 0.121 0.199 0.16 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1794.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C78.6: Secondary malignant neoplasm of retroperitoneum and peritoneum EFO_0009812 9.37e-17 9.37 -17 4.126 oddsRatioConfidenceIntervalLower 5.763 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079623 387930 1833 53.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SHBG Testosterone (30850) EFO_0004908 7.4e-217 7.4 -217 "" -0.259 -0.228 -0.243 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079042 373826 373826 5943.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Non cancer illness code self reported - atrial fibrillation/ICD10 I48 EFO_0000275 1.06e-18 1.06 -18 2.82 oddsRatioConfidenceIntervalLower 3.55 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077882 329052 3763 104.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ITGA2B Platelet count (30080) EFO_0004309 6.06e-18 6.06 -18 "" -0.471 -0.297 -0.384 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 385.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 Urate (30880) EFO_0004531 4.91e-12 4.91 -12 "" 0.329 0.59 0.46 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 138.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" OCA2 Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 5.06e-14 5.06 -14 0.358 oddsRatioConfidenceIntervalLower 0.468 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 57.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MLH1 ICD10 C18: Malignant neoplasm of colon EFO_1001950 2.31e-13 2.31 -13 13.068 oddsRatioConfidenceIntervalLower 25.984 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079581 387657 3899 17.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR ICD10 I20: Angina pectoris EFO_0003913 3.94e-14 3.94 -14 2.114 oddsRatioConfidenceIntervalLower 2.567 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079968 386565 22332 146.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MSH2 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 7.729999999999999e-23 7.73 -23 21.42 oddsRatioConfidenceIntervalLower 39.442 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 25.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ZFAT Whole body water mass (23102) EFO_0009805 4.49e-38 4.49 -38 "" 0.113 0.153 0.133 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 3013.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Leg predicted mass left (23118) EFO_0004302 2.1e-14 2.1 -14 "" -0.845 -0.5 -0.672 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 44.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" PAPPA2 IGF 1 (30770) EFO_0004627 1.9600000000000002e-33 1.96 -33 "" 0.229 0.318 0.274 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1555.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MEPE Heel bone mineral density BMD T score automated (78) EFO_0009270 4.37e-12 4.37 -12 "" -0.327 -0.183 -0.255 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 576.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" COL27A1 Standing height (50) EFO_0004339 1.28e-12 1.28 -12 "" -0.389 -0.22 -0.305 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 182.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Whole body water mass (23102) EFO_0009805 1.34e-12 1.34 -12 "" 0.222 0.392 0.307 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 170.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC22A12 Urate (30880) EFO_0004531 5.28e-47 5.28 -47 "" -1.579 -1.201 -1.39 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 66.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" COL1A1 Non cancer illness code self reported - bone disorder EFO_0004260 3.08e-18 3.08 -18 120.707 oddsRatioConfidenceIntervalLower 355.029 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077769 331754 988 12.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HNF1A ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 1.58e-11 1.58 -11 5.739 oddsRatioConfidenceIntervalLower 9.539 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 29.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EPB41 Reticulocyte count (30250) EFO_0007986 4.3e-20 4.3 -20 "" 0.504 0.778 0.641 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 179.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ALPL Alkaline phosphatase (30610) EFO_0004533 3.09e-13 3.09 -13 "" -2.615 -1.507 -2.061 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8544 8544 12.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OCA2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 3.13e-12 3.13 -12 0.222 oddsRatioConfidenceIntervalLower 0.339 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 19.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APOB Direct bilirubin (30660) EFO_0004570 2.5e-12 2.5 -12 "" 0.152 0.271 0.212 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 913.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" KIAA1109 Mean platelet thrombocyte volume (30100) EFO_0004584 6.16e-19 6.16 -19 "" -0.304 -0.194 -0.249 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 900.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Haemoglobin concentration (30020) EFO_0004509 7.89e-12 7.89 -12 "" -1.704 -0.945 -1.325 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 5.6e-106 5.6 -106 "" 1.852 2.217 2.035 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" COL4A4 ICD10 R31: Hematuria HP_0000790 5.83e-59 5.83 -59 6.075 oddsRatioConfidenceIntervalLower 7.558 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080842 383009 19710 153.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS10 Standing height (50) EFO_0004339 3.39e-13 3.39 -13 "" -0.112 -0.065 -0.088 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2422.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 Lymphocyte percentage (30180) EFO_0007993 5.01e-14 5.01 -14 "" -0.499 -0.293 -0.396 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 314.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A6 Total bilirubin (30840) EFO_0004570 8.680000000000001e-56 8.68 -56 "" 0.358 0.46 0.409 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1272.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GNB1 Basophil percentage (30220) EFO_0007992 1.14e-12 1.14 -12 "" 0.292 0.514 0.403 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078999 418454 418454 304.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOC3 Apolipoprotein A (30630) EFO_0004732 1.11e-36 1.11 -36 "" 0.564 0.771 0.667 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 259.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Whole body fat free mass (23101) EFO_0004995 4.09e-16 4.09 -16 "" 0.297 0.485 0.391 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 138.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APEH Red blood cell erythrocyte count (30010) EFO_0004305 8.46e-16 8.46 -16 "" -0.286 -0.174 -0.23 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 754.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ASXL1 Smoking status - Current (20116) EFO_0006527 2.5e-15 2.5 -15 1.467 oddsRatioConfidenceIntervalLower 1.614 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078302 429255 45239 566.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC1R Hair colour natural before greying - Light brown (1747) EFO_0007822 3.47e-25 3.47 -25 0.748 oddsRatioConfidenceIntervalLower 0.79 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077608 429979 175455 2016.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTB Mean reticulocyte volume (30260) EFO_0010701 6.01e-19 6.01 -19 "" -0.872 -0.557 -0.715 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 129.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SHBG SHBG (30830) EFO_0004696 4.41e-75 4.41 -75 "" -1.495 -1.206 -1.351 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 133.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR Non cancer illness code self reported - angina EFO_0003913 1.11e-15 1.11 -15 2.295 oddsRatioConfidenceIntervalLower 2.811 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077655 331754 14285 134.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ABCC2 Total bilirubin (30840) EFO_0004570 5.07e-13 5.07 -13 "" 0.042 0.073 0.058 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 9977.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 Illnesses of siblings - Breast cancer (20111) EFO_0009640 1.88e-15 1.88 -15 1.474 oddsRatioConfidenceIntervalLower 1.622 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 512.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" DTL Standing height (50) EFO_0004339 2.13e-22 2.13 -22 "" -0.27 -0.18 -0.225 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 637.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TUBB1 Platelet distribution width (30110) EFO_0007984 3.12e-12 3.12 -12 "" 0.551 0.981 0.766 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9952 9952 90.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NFKBIE ICD10 C91: Lymphoid leukemia EFO_0004289 1.39e-13 1.39 -13 40.445 oddsRatioConfidenceIntervalLower 107.803 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 10.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MPL Platelet crit (30090) EFO_0007985 4.43e-34 4.43 -34 "" 0.339 0.47 0.404 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 699.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ABCA1 Apolipoprotein A (30630) EFO_0004732 1.4399999999999998e-244 1.44 -244 "" -0.929 -0.826 -0.877 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1043.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SF3B1 Mean reticulocyte volume (30260) EFO_0010701 1.67e-14 1.67 -14 "" 0.265 0.447 0.356 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 390.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FOXA3 SHBG (30830) EFO_0004696 2.14e-22 2.14 -22 "" 0.237 0.357 0.297 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 730.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PIEZO1 Standing height (50) EFO_0004339 1.88e-22 1.88 -22 "" -0.299 -0.199 -0.249 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 509.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GP1BA Platelet distribution width (30110) EFO_0007984 9.92e-34 9.92 -34 "" 0.686 0.951 0.818 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 176.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MLH1 ICD10 Z08: Encounter for follow-up examination after completed treatment for malignant neoplasm EFO_0004542 6.81e-16 6.81 -16 11.876 oddsRatioConfidenceIntervalLower 21.654 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081200 387917 6079 22.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I34.0: Nonrheumatic mitral (valve) insufficiency EFO_0009557 3.82e-13 3.82 -13 2.61 oddsRatioConfidenceIntervalLower 3.381 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079991 387332 2987 79.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NF1 Monocyte count (30130) EFO_0005091 1.89e-13 1.89 -13 "" 0.33 0.569 0.45 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 214.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" NPC1L1 Apolipoprotein B (30640) EFO_0004615 4.52e-14 4.52 -14 "" -0.142 -0.083 -0.113 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 3764.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SRSF2 Eosinophil count (30150) EFO_0004842 6.59e-13 6.59 -13 "" -0.626 -0.357 -0.491 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 182.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANGPTL4 Triglycerides (30870) EFO_0004530 1.67e-44 1.67 -44 "" -0.409 -0.308 -0.359 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 1238.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 Illnesses of mother - Breast cancer (20110) EFO_0009640 3.9699999999999997e-54 3.97 -54 3.041 oddsRatioConfidenceIntervalLower 3.5 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 312.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PTPN14 ICD10 C44.3: Other and unspecified malignant neoplasm of skin of other and unspecified parts of face EFO_0004198 2.09e-12 2.09 -12 9.788 oddsRatioConfidenceIntervalLower 18.491 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079596 387930 7572 19.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CLDN10 Creatinine (30700) EFO_0004518 4.68e-13 4.68 -13 "" 0.395 0.689 0.542 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 101.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RNF128 Creatinine (30700) EFO_0004518 1.91e-108 1.91 -108 "" 0.137 0.164 0.151 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 6558.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Trunk fat free mass (23129) EFO_0004995 1.62e-19 1.62 -19 "" -0.578 -0.372 -0.475 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 115.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NPR2 Sitting height (20015) EFO_0011011 8.200000000000001e-22 8.2 -22 "" -0.21 -0.139 -0.174 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1332.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z51: Encounter for other aftercare and medical care EFO_0004542 1.43e-11 1.43 -11 2.29 oddsRatioConfidenceIntervalLower 2.912 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081286 383746 34913 99.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APC ICD10 Z86.0: Personal history of in-situ and benign neoplasms and neoplasms of uncertain behavior EFO_0000616 1.79e-18 1.79 -18 16.465 oddsRatioConfidenceIntervalLower 30.794 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081355 387929 6926 22.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGF1R Leg predicted mass left (23118) EFO_0004302 6.18e-14 6.18 -14 "" -0.655 -0.384 -0.52 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 71.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TERT Mean corpuscular volume (30040) EFO_0004526 3.94e-21 3.94 -21 "" 0.416 0.634 0.525 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 250.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOC3 Apolipoprotein B (30640) EFO_0004615 8.029999999999999e-23 8.03 -23 "" -0.232 -0.155 -0.194 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 2159.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCAT HDL cholesterol (30760) EFO_0004612 1.1500000000000001e-29 1.15 -29 "" -1.474 -1.039 -1.256 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 57.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - atorvastatin EFO_0007010 1.02e-16 1.02 -16 4.793 oddsRatioConfidenceIntervalLower 6.939 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078178 320758 16654 51.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APC ICD10 Z93: Artificial opening status EFO_0002571 4.01e-22 4.01 -22 27.213 oddsRatioConfidenceIntervalLower 53.156 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081416 387863 3783 21.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APOB Direct bilirubin (30660) EFO_0004570 2.07e-44 2.07 -44 "" 0.431 0.571 0.501 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 649.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RASA2 Lymphocyte percentage (30180) EFO_0007993 5.51e-14 5.51 -14 "" -0.494 -0.29 -0.392 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 318.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Whole body fat free mass (23101) EFO_0004995 2.4099999999999997e-23 2.41 -23 "" -0.102 -0.069 -0.085 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 4404.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC4A1 Reticulocyte count (30250) EFO_0007986 5.81e-25 5.81 -25 "" 0.864 1.269 1.066 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 81.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 ICD10 C77: Secondary and unspecified malignant neoplasm of lymph nodes MONDO_0024339 1.95e-13 1.95 -13 4.366 oddsRatioConfidenceIntervalLower 6.468 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079620 387882 7019 40.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MSH6 ICD10 C54.1: Malignant neoplasm of endometrium MONDO_0011962 1.13e-18 1.13 -18 9.677 oddsRatioConfidenceIntervalLower 16.024 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079607 228786 1469 29.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGFALS Impedance of whole body (23106) HP_0000924 3.05e-12 3.05 -12 "" 0.08 0.142 0.111 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 1961.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Impedance of leg right (23107) HP_0000924 5.87e-24 5.87 -24 "" -0.33 -0.223 -0.276 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SPTA1 High light scatter reticulocyte percentage (30290) EFO_0010700 1.0600000000000001e-35 1.06 -35 "" 0.517 0.71 0.613 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 365.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HTRA1 Standing height (50) EFO_0004339 2.96e-13 2.96 -13 "" -0.25 -0.144 -0.197 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 457.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 Self Report - breast cancer (20001) EFO_0000305 4.91e-14 4.91 -14 3.691 oddsRatioConfidenceIntervalLower 5.184 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077626 39614 10070 110.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BAK1 Platelet count (30080) EFO_0004309 2.58e-16 2.58 -16 "" 0.25 0.407 0.328 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 475.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IL33 Asthma Strict CC (RGC) MONDO_0004979 1.99e-11 1.99 -11 0.696 oddsRatioConfidenceIntervalLower 0.774 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081460 376289 39436 343.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 High light scatter reticulocyte count (30300) EFO_0007986 2.37e-20 2.37 -20 "" 0.161 0.248 0.205 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1754.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACO1 Haematocrit percentage (30030) EFO_0004348 2.34e-30 2.34 -30 "" 0.136 0.192 0.164 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 2911.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Trunk fat free mass (23129) EFO_0004995 1.05e-12 1.05 -12 "" 0.219 0.385 0.302 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 177.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 6.29e-14 6.29 -14 "" -2.502 -1.466 -1.984 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2108 2108 13.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Whole body water mass (23102) EFO_0009805 1.77e-16 1.77 -16 "" 0.221 0.36 0.291 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 257.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 4.19e-44 4.19 -44 9.387 oddsRatioConfidenceIntervalLower 12.864 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 81.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ATP11C Total bilirubin (30840) EFO_0004570 5.79e-16 5.79 -16 "" 0.487 0.798 0.643 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 68.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Whole body fat free mass (23101) EFO_0004995 2.89e-16 2.89 -16 "" 0.219 0.357 0.288 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 257.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ASXL1 ICD10 F17: Nicotine dependence EFO_0003768 1.39e-14 1.39 -14 2.218 oddsRatioConfidenceIntervalLower 2.717 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079798 370495 32828 140.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LCORL Arm fat free mass right (23121) EFO_0004995 1.67e-13 1.67 -13 "" 0.189 0.327 0.258 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 257.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Sitting height (20015) EFO_0011011 3.84e-18 3.84 -18 "" -0.092 -0.058 -0.075 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 5952.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ATR Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.22e-17 1.22 -17 "" 0.1 0.159 0.129 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3756.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" OR51V1 Haemoglobin concentration (30020) EFO_0004509 1.69e-11 1.69 -11 "" -0.838 -0.46 -0.649 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 83.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IL33 ICD10 J45.9: Other and unspecified asthma MONDO_0004979 1.14e-11 1.14 -11 0.689 oddsRatioConfidenceIntervalLower 0.767 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080140 385754 38114 328.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTB Mean sphered cell volume (30270) EFO_0004526 4.84e-25 4.84 -25 "" -1.644 -1.12 -1.382 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 46.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" SH2B3 Phosphate (30810) EFO_0010968 1.75e-13 1.75 -13 "" 0.088 0.152 0.12 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 3336.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANGPTL8 Apolipoprotein A (30630) EFO_0004732 7.28e-14 7.28 -14 "" 0.205 0.351 0.278 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 519.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RTEL1 Mean reticulocyte volume (30260) EFO_0010701 7.84e-17 7.84 -17 "" 0.151 0.244 0.198 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1493.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 Illnesses of mother - Breast cancer (20110) EFO_0009640 2.6e-51 2.6 -51 3.177 oddsRatioConfidenceIntervalLower 3.693 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 277.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Body mass index BMI (23104) EFO_0004340 6.49e-28 6.49 -28 "" 0.241 0.346 0.293 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078907 423694 423694 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TMPRSS6 Haematocrit percentage (30030) EFO_0004348 6.33e-13 6.33 -13 "" -0.371 -0.212 -0.292 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 361.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACAN Standing height (50) EFO_0004339 1.0699999999999999e-81 1.07 -81 "" -1.53 -1.245 -1.387 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 64.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 Type of Cancer: Malignant neoplasm of breast (40006) EFO_0003869 7.49e-12 7.49 -12 3.422 oddsRatioConfidenceIntervalLower 4.866 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079108 41005 12472 79.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EPB41 Mean sphered cell volume (30270) EFO_0004526 2.2999999999999997e-24 2.3 -24 "" -0.834 -0.565 -0.699 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 178.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MSH2 Illnesses of siblings - Bowel cancer (20111) EFO_0009640 7.58e-13 7.58 -13 9.641 oddsRatioConfidenceIntervalLower 17.913 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078291 371732 9037 20.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS17 Forced vital capacity FVC (3062) EFO_0004312 1.97e-13 1.97 -13 "" -0.13 -0.075 -0.102 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 2319.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CALR Haematocrit percentage (30030) EFO_0004348 1.88e-13 1.88 -13 "" -0.853 -0.494 -0.673 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 71.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A5 Direct bilirubin (30660) EFO_0004570 5.99e-18 5.99 -18 "" 0.158 0.251 0.205 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1488.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MEN1 ICD10 E21.0: Primary hyperparathyroidism EFO_0008519 1.1e-14 1.1 -14 434.988 oddsRatioConfidenceIntervalLower 2031.21 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079751 387930 643 6.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PCSK9 Direct bilirubin (30660) EFO_0004570 2.23e-12 2.23 -12 "" 0.127 0.226 0.176 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1047.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TERT Mean corpuscular haemoglobin (30050) EFO_0004527 2.58e-17 2.58 -17 "" 0.362 0.58 0.471 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 250.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LRP5 Speed of sound through heel (3146) EFO_0005654 1.68e-13 1.68 -13 "" -0.762 -0.442 -0.602 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 120.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Arm predicted mass right (23122) EFO_0004302 4.23e-13 4.23 -13 "" 0.236 0.411 0.323 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 157.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SAG Total bilirubin (30840) EFO_0004570 4.43e-14 4.43 -14 "" 0.221 0.376 0.299 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8490 8490 726.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" POLE Mean reticulocyte volume (30260) EFO_0010701 1.14e-25 1.14 -25 "" 0.298 0.435 0.367 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 683.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CD36 HDL cholesterol (30760) EFO_0004612 5.06e-12 5.06 -12 "" 0.097 0.174 0.136 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1758.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IQGAP2 Reticulocyte percentage (30240) EFO_0010700 2.06e-17 2.06 -17 "" 0.064 0.102 0.083 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 9500.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC6A19 Creatinine (30700) EFO_0004518 1.01e-14 1.01 -14 "" -0.123 -0.074 -0.098 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 3558.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NF1 Non cancer illness code self reported - other neurological problem EFO_0000618 1.06e-26 1.06 -26 45.492 oddsRatioConfidenceIntervalLower 91.566 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077842 331754 1794 21.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" ALPL Alkaline phosphatase (30610) EFO_0004533 3.32e-106 3.32 -106 "" -0.793 -0.663 -0.728 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 703.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R Leg fat free mass left (23117) EFO_0004995 6.83e-13 6.83 -13 "" -0.14 -0.08 -0.11 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 1485.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLG Atopy CC (RGC) EFO_0002686 6.21e-16 6.21 -16 1.244 oddsRatioConfidenceIntervalLower 1.312 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081463 359926 46691 1790.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASXL1 Smoking status - Current (20116) EFO_0006527 1.88e-22 1.88 -22 2.51 oddsRatioConfidenceIntervalLower 3.02 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078302 429255 45239 176.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Haematocrit percentage (30030) EFO_0004348 4.95e-15 4.95 -15 "" -0.179 -0.108 -0.143 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1779.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GIGYF1 Glucose (30740) EFO_0004468 4.77e-13 4.77 -13 "" 0.495 0.864 0.68 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 105.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Impedance of leg left (23108) HP_0000924 2.43e-27 2.43 -27 "" -0.312 -0.216 -0.264 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHTF18 Mean corpuscular haemoglobin (30050) EFO_0004527 6.3e-16 6.3 -16 "" 0.207 0.34 0.274 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 682.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Ankle spacing width (3143) EFO_0004324 1.47e-13 1.47 -13 "" 0.19 0.327 0.258 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 520.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.63e-13 1.63 -13 "" 1.45 2.499 1.975 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 14.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APEH Haematocrit percentage (30030) EFO_0004348 5.73e-15 5.73 -15 "" -0.275 -0.164 -0.219 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 754.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" JAK2 Platelet count (30080) EFO_0004309 4.56e-13 4.56 -13 "" 0.629 1.096 0.862 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 54.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" FCGRT Total protein (30860) EFO_0004536 1.6e-32 1.6 -32 "" -1.523 -1.091 -1.307 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 74.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOB ICD10 E78.0: Pure hypercholesterolemia HP_0003124 4.86e-13 4.86 -13 0.303 oddsRatioConfidenceIntervalLower 0.419 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079766 378271 45730 27.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TNFRSF13B Platelet crit (30090) EFO_0007985 1.4e-81 1.4 -81 "" -0.219 -0.178 -0.199 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 7147.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 5.02e-13 5.02 -13 2.087 oddsRatioConfidenceIntervalLower 2.547 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 133.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANK1 Mean reticulocyte volume (30260) EFO_0010701 1.19e-20 1.19 -20 "" -0.111 -0.073 -0.092 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 8817.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC Non cancer illness code self reported - rectal or colon adenoma polyps/ICD10 D12 EFO_1000633 6.84e-16 6.84 -16 40.879 oddsRatioConfidenceIntervalLower 100.629 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077868 329052 1492 12.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC45A2 Ease of skin tanning - Get very tanned (1727) EFO_0007009 6.62e-24 6.62 -24 0.301 oddsRatioConfidenceIntervalLower 0.38 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 58.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Leg fat free mass left (23117) EFO_0004995 1.58e-13 1.58 -13 "" -0.512 -0.297 -0.404 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 115.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD2 Creatinine (30700) EFO_0004518 6.36e-12 6.36 -12 "" 0.362 0.651 0.506 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 105.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NRK Standing height (50) EFO_0004339 6.07e-12 6.07 -12 "" 0.187 0.337 0.262 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 148.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Standing height (50) EFO_0004339 4.21e-19 4.21 -19 "" 0.088 0.138 0.113 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2097.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MPL Platelet count (30080) EFO_0004309 1.4300000000000002e-35 1.43 -35 "" 0.348 0.479 0.414 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 699.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MYD88 ICD10 C91: Lymphoid leukemia EFO_0004289 2.75e-20 2.75 -20 56.767 oddsRatioConfidenceIntervalLower 133.856 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 14.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ASXL1 Pack years of smoking (20161) EFO_0005671 7.96e-17 7.96 -17 "" 0.243 0.392 0.318 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078325 134156 134156 627.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" JAK2 IGF 1 (30770) EFO_0004627 3.5e-17 3.5 -17 "" -0.759 -0.473 -0.616 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 149.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SRSF2 ICD10 D64: Other anemias EFO_0004272 1.65e-11 1.65 -11 4.426 oddsRatioConfidenceIntervalLower 6.824 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079712 384878 15647 35.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PCSK9 Cholesterol (30690) EFO_0004574 5.33e-31 5.33 -31 "" -1.11 -0.788 -0.949 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 126.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 ICD10 C79.5: Secondary malignant neoplasm of bone and bone marrow EFO_0009812 4.64e-20 4.64 -20 5.444 oddsRatioConfidenceIntervalLower 7.819 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079627 387930 3104 49.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CAD Mean corpuscular volume (30040) EFO_0004526 3.05e-30 3.05 -30 "" 0.648 0.916 0.782 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 166.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Whole body fat free mass (23101) EFO_0004995 2.09e-14 2.09 -14 "" 0.228 0.386 0.307 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 197.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I42.9: Cardiomyopathy, unspecified EFO_0000318 1.71e-13 1.71 -13 11.143 oddsRatioConfidenceIntervalLower 21.158 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079999 387930 681 18.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" MC4R Impedance of whole body (23106) HP_0000924 1.05e-25 1.05 -25 "" -0.286 -0.196 -0.241 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 9.06e-28 9.06 -28 9.076 oddsRatioConfidenceIntervalLower 13.484 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 46.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SCUBE3 Arm fat free mass right (23121) EFO_0004995 1.7e-13 1.7 -13 "" -0.116 -0.067 -0.091 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 2062.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" KLF1 Mean corpuscular haemoglobin (30050) EFO_0004527 6.54e-96 6.54 -96 "" -1.272 -1.053 -1.162 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 250.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PTPRJ Trunk fat free mass (23129) EFO_0004995 1.57e-11 1.57 -11 "" -0.276 -0.152 -0.214 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 316.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IQGAP2 Mean platelet thrombocyte volume (30100) EFO_0004584 7.56e-21 7.56 -21 "" 0.204 0.312 0.258 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 945.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 6.92e-17 6.92 -17 1.723 oddsRatioConfidenceIntervalLower 1.958 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 301.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR LipidLowering Med (RGC) EFO_0007010 3.51e-35 3.51 -35 19.062 oddsRatioConfidenceIntervalLower 30.401 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 76.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GCK Non cancer illness code self reported - diabetes/ICD10 E14 EFO_0000400 2.83e-15 2.83 -15 17.083 oddsRatioConfidenceIntervalLower 34.55 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077723 329052 16961 20.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Impedance of leg left (23108) HP_0000924 1.19e-11 1.19 -11 "" 0.054 0.098 0.076 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 5849.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SCUBE3 Standing height (50) EFO_0004339 1.49e-29 1.49 -29 "" -0.336 -0.237 -0.287 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 526.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Arm predicted mass left (23126) EFO_0004302 1.54e-12 1.54 -12 "" 0.208 0.368 0.288 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 197.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 2.94e-13 2.94 -13 "" -2.664 -1.536 -2.1 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 14.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CCNF Mean corpuscular volume (30040) EFO_0004526 2.81e-12 2.81 -12 "" 0.143 0.255 0.199 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 963.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 4.52e-24 4.52 -24 23.55 oddsRatioConfidenceIntervalLower 43.422 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 32.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Comparative body size at age 10 - Thinner (1687) EFO_0009819 2.45e-17 2.45 -17 0.522 oddsRatioConfidenceIntervalLower 0.607 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077588 423612 141504 201.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CREB3L3 Triglycerides (30870) EFO_0004530 4.9e-12 4.9 -12 "" 0.232 0.416 0.324 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 369.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Whole body water mass (23102) EFO_0009805 6.85e-23 6.85 -23 "" -0.131 -0.087 -0.109 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 2643.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GCK ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 1.09e-33 1.09 -33 6.27 oddsRatioConfidenceIntervalLower 8.442 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 89.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LCORL Seated height (51) EFO_0011011 1.46e-13 1.46 -13 "" 0.307 0.528 0.418 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 161.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PALB2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.21e-13 1.21 -13 1.771 oddsRatioConfidenceIntervalLower 2.059 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 231.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANKRD12 Neutrophil percentage (30200) EFO_0007990 2.79e-16 2.79 -16 "" 0.333 0.543 0.438 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 312.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHEK2 White blood cell leukocyte count (30000) EFO_0004308 5.18e-28 5.18 -28 "" 0.161 0.231 0.196 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 2756.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RRBP1 LDL direct (30780) EFO_0004611 2.15e-14 2.15 -14 "" -0.615 -0.364 -0.489 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 210.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SHOX Standing height (50) EFO_0004339 3.24e-23 3.24 -23 "" -1.31 -0.878 -1.094 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 27.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SHOX Standing height (50) EFO_0004339 3.24e-23 3.24 -23 "" -1.31 -0.878 -1.094 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 27.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC ICD10 Z90.4: Acquired absence of other specified parts of digestive tract EFO_0000405 1.4400000000000001e-21 1.44 -21 16.973 oddsRatioConfidenceIntervalLower 30.37 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081392 387855 8508 26.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CALR Platelet distribution width (30110) EFO_0007984 1.68e-11 1.68 -11 "" 0.507 0.924 0.716 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 71.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CD36 Platelet distribution width (30110) EFO_0007984 1.99e-27 1.99 -27 "" 0.134 0.193 0.164 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 3610.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOC3 Platelet distribution width (30110) EFO_0007984 6.28e-20 6.28 -20 "" -0.211 -0.137 -0.174 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 2213.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NPC1L1 Cholesterol (30690) EFO_0004574 1.55e-13 1.55 -13 "" -0.184 -0.107 -0.146 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 2161.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PALB2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 4.27e-17 4.27 -17 2.76 oddsRatioConfidenceIntervalLower 3.497 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 101.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PTPRH Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.6e-12 5.6 -12 "" 0.075 0.134 0.104 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3746.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TYK2 Lymphocyte percentage (30180) EFO_0007993 1.52e-18 1.52 -18 "" 0.072 0.113 0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 7855.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MSH6 ICD10 C54.1: Malignant neoplasm of endometrium MONDO_0011962 1.0600000000000001e-21 1.06 -21 25.805 oddsRatioConfidenceIntervalLower 50.212 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079607 228786 1469 21.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SH2B3 High light scatter reticulocyte count (30300) EFO_0007986 4.3099999999999995e-23 4.31 -23 "" 0.122 0.182 0.152 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 3655.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HPN Albumin (30600) EFO_0004535 1.88e-11 1.88 -11 "" -0.832 -0.456 -0.644 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 97.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CALR High light scatter reticulocyte percentage (30290) EFO_0010700 2.82e-15 2.82 -15 "" 0.67 1.112 0.891 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 69.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GIGYF1 Glucose (30740) EFO_0004468 1.39e-14 1.39 -14 "" 0.46 0.775 0.618 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 144.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTA1 Direct bilirubin (30660) EFO_0004570 1.8399999999999998e-23 1.84 -23 "" 0.397 0.591 0.494 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 269.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.11e-81 3.11 -81 "" -2.209 -1.797 -2.003 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.43e-128 2.43 -128 "" -2.53 -2.149 -2.339 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 98.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS17 Impedance of arm left (23110) HP_0000924 1.39e-16 1.39 -16 "" -0.106 -0.065 -0.086 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 4065.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPSB3 Basal metabolic rate (23105) EFO_0007777 6.36e-15 6.36 -15 "" -0.072 -0.043 -0.058 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 6513.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LIPG HDL cholesterol (30760) EFO_0004612 1.38e-18 1.38 -18 "" 0.495 0.779 0.637 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 128.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 ICD10 D69.6: Thrombocytopenia, unspecified HP_0001873 3.02e-12 3.02 -12 4.076 oddsRatioConfidenceIntervalLower 6.049 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079714 387579 1788 38.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TYR Ease of skin tanning - Get very tanned (1727) EFO_0007009 1.01e-17 1.01 -17 0.537 oddsRatioConfidenceIntervalLower 0.619 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 211.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ASGR1 Alkaline phosphatase (30610) EFO_0004533 2.6e-34 2.6 -34 "" 0.852 1.177 1.014 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 113.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - rosuvastatin EFO_0007010 1.8299999999999999e-38 1.83 -38 6.732 oddsRatioConfidenceIntervalLower 8.981 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078225 320758 2905 83.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R IGF 1 (30770) EFO_0004627 1.41e-21 1.41 -21 "" 0.219 0.332 0.276 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 954.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Trunk predicted mass (23130) EFO_0004324 6.69e-15 6.69 -15 "" 0.252 0.421 0.336 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 170.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ALB Calcium (30680) EFO_0004838 1.51e-34 1.51 -34 "" -0.404 -0.293 -0.348 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 1128.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PCSK9 LDL direct (30780) EFO_0004611 2.06e-14 2.06 -14 "" -0.72 -0.427 -0.573 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8527 8527 159.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PROS1 TAG VTE CC (RGC) EFO_0004286 1.83e-14 1.83 -14 4.56 oddsRatioConfidenceIntervalLower 6.722 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081530 231542 10941 53.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NPR2 Standing height (50) EFO_0004339 3.46e-33 3.46 -33 "" -0.793 -0.57 -0.681 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 104.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GIGYF1 Cholesterol (30690) EFO_0004574 1.55e-19 1.55 -19 "" -0.812 -0.522 -0.667 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 154.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS17 Impedance of arm right (23109) HP_0000924 7.11e-15 7.11 -15 "" -0.101 -0.06 -0.08 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 4064.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" JAK2 ICD10 R16: Hepatomegaly and splenomegaly, not elsewhere classified HP_0001744 1.32e-17 1.32 -17 7.004 oddsRatioConfidenceIntervalLower 10.947 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080805 387634 864 31.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EGLN1 Red blood cell erythrocyte count (30010) EFO_0004305 4.18e-14 4.18 -14 "" 0.507 0.862 0.684 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 75.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Impedance of leg right (23107) HP_0000924 2.46e-17 2.46 -17 "" 0.083 0.133 0.108 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 4408.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PCSK9 LDL direct (30780) EFO_0004611 1.76e-184 1.76 -184 "" -0.839 -0.733 -0.786 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 1184.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TECTA hearing loss (RGC) EFO_0004238 9.33e-14 9.33 -14 1.947 oddsRatioConfidenceIntervalLower 2.319 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 271.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" STAB1 Albumin (30600) EFO_0004535 1.23e-13 1.23 -13 "" 0.122 0.209 0.166 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 1780.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Leg fat free mass left (23117) EFO_0004995 1.22e-13 1.22 -13 "" 0.2 0.344 0.272 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 257.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SF3B1 Haemoglobin concentration (30020) EFO_0004509 1.64e-11 1.64 -11 "" -0.328 -0.18 -0.254 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 394.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CGN Gamma glutamyltransferase (30730) EFO_0004532 1.06e-14 1.06 -14 "" 0.127 0.214 0.171 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1538.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" THBS4 6mm weak meridian left (5097) EFO_0004731 1.18e-11 1.18 -11 "" -0.216 -0.119 -0.167 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 1327.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC12A9 Hair colour natural before greying - Blonde (1747) EFO_0007822 4.82e-37 4.82 -37 2.415 oddsRatioConfidenceIntervalLower 2.766 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 360.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Sitting height (20015) EFO_0011011 1.57e-16 1.57 -16 "" 0.31 0.503 0.406 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 181.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" HBB Mean corpuscular volume (30040) EFO_0004526 1.69e-37 1.69 -37 "" -2.981 -2.189 -2.585 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 19.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ASGR1 Alkaline phosphatase (30610) EFO_0004533 1.67e-261 1.67 -261 "" 1.04 1.165 1.103 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 766.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHEK2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 4.22e-15 4.22 -15 1.421 oddsRatioConfidenceIntervalLower 1.552 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 687.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MIP Eye problems disorders - Cataract (6148) MONDO_0005129 5.5e-14 5.5 -14 8.273 oddsRatioConfidenceIntervalLower 14.35 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079433 37798 18309 63.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MEPE Heel bone mineral density BMD left (4105) EFO_0009270 4.08e-21 4.08 -21 "" -0.369 -0.242 -0.305 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079152 166186 166186 745.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 Mothers age at death (3526) EFO_0007796 2.28e-18 2.28 -18 "" -0.329 -0.208 -0.269 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 970.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GP1BA Platelet count (30080) EFO_0004309 1.08e-45 1.08 -45 "" -1.061 -0.804 -0.933 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 176.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MPL Platelet count (30080) EFO_0004309 1.4200000000000001e-27 1.42 -27 "" 0.341 0.491 0.416 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 527.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SF3B1 ICD10 C91: Lymphoid leukemia EFO_0004289 2.43e-14 2.43 -14 25.316 oddsRatioConfidenceIntervalLower 58.09 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 13.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" OCA2 Hair colour natural before greying - Blonde (1747) EFO_0007822 2.04e-75 2.04 -75 3.353 oddsRatioConfidenceIntervalLower 3.815 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 430.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LCORL Leg predicted mass left (23118) EFO_0004302 1.88e-13 1.88 -13 "" 0.197 0.34 0.268 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 257.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Haemoglobin concentration (30020) EFO_0004509 7.89e-12 7.89 -12 "" -1.704 -0.945 -1.325 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RP11-545J16.1 Total bilirubin (30840) EFO_0004570 1.38e-80 1.38 -80 "" 0.23 0.283 0.257 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 3515.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TYR Skin colour - Light olive (1717) EFO_0003784 2.63e-24 2.63 -24 0.284 oddsRatioConfidenceIntervalLower 0.362 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 54.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HGS Forced vital capacity FVC (3062) EFO_0004312 7.84e-13 7.84 -13 "" -0.14 -0.08 -0.11 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 1893.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Seated height (51) EFO_0011011 1.46e-13 1.46 -13 "" 0.307 0.528 0.418 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 161.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 6mm strong meridian left (5134) EFO_0004731 8.79e-19 8.79 -19 "" 0.629 0.987 0.808 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079300 89735 89735 95.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z92.6: Personal history of chemotherapy for neoplastic disease EFO_0000352 6.75e-13 6.75 -13 4.935 oddsRatioConfidenceIntervalLower 7.629 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081409 387930 4641 33.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TECTA hearing loss (RGC) EFO_0004238 9.33e-14 9.33 -14 1.947 oddsRatioConfidenceIntervalLower 2.319 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 271.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EPB41 High light scatter reticulocyte percentage (30290) EFO_0010700 2.44e-14 2.44 -14 "" 0.399 0.675 0.537 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 178.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ELOVL7 Mean platelet thrombocyte volume (30100) EFO_0004584 5.3800000000000005e-21 5.38 -21 "" 0.166 0.253 0.209 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1448.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IRS1 Leg predicted mass right (23114) EFO_0004302 7.65e-18 7.65 -18 "" -0.52 -0.327 -0.424 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 140.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" KLHDC7B Hearing difficulty problems background noise - Yes (2257) EFO_0007616 2.97e-18 2.97 -18 1.658 oddsRatioConfidenceIntervalLower 1.857 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078878 422872 167296 644.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SF3B1 Mean corpuscular volume (30040) EFO_0004526 1.39e-20 1.39 -20 "" 0.326 0.501 0.413 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 394.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SUPT5H Red blood cell erythrocyte distribution width (30070) EFO_0009188 7.18e-15 7.18 -15 "" 0.999 1.671 1.335 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 29.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CAD Red blood cell erythrocyte count (30010) EFO_0004305 1.27e-12 1.27 -12 "" -0.491 -0.278 -0.384 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 210.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZNF770 SHBG (30830) EFO_0004696 1.47e-13 1.47 -13 "" 0.326 0.561 0.443 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 189.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL4A4 Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 8.39e-85 8.39 -85 "" 0.797 0.975 0.886 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 447.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Arm fat free mass left (23125) EFO_0004995 1.15e-12 1.15 -12 "" 0.211 0.371 0.291 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 197.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Basal metabolic rate (23105) EFO_0007777 3.56e-17 3.56 -17 "" -0.928 -0.578 -0.753 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 44.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" SPHK1 Reticulocyte percentage (30240) EFO_0010700 1.2100000000000001e-29 1.21 -29 "" -0.157 -0.111 -0.134 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 6367.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 8.77e-28 8.77 -28 8.802 oddsRatioConfidenceIntervalLower 13.004 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 48.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Arm fat free mass left (23125) EFO_0004995 1.15e-12 1.15 -12 "" 0.211 0.371 0.291 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 197.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CXCL2 Neutrophil percentage (30200) EFO_0007990 2.43e-14 2.43 -14 "" -0.899 -0.531 -0.715 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 102.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" WNT1 Heel quantitative ultrasound index QUI direct entry left (4104) EFO_0004514 3.12e-13 3.12 -13 "" -0.638 -0.368 -0.503 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079151 166283 166283 164.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NF1 ICD10 D36: Benign neoplasm of other and unspecified sites EFO_0002422 2.7100000000000004e-26 2.71 -26 7.583 oddsRatioConfidenceIntervalLower 11.025 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079695 387660 899 49.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NPR3 Standing height (50) EFO_0004339 7.140000000000001e-32 7.14 -32 "" 0.08 0.112 0.096 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 5067.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IFT140 ICD10 N28.1: Cyst of kidney, acquired EFO_0009690 1.16e-18 1.16 -18 8.24 oddsRatioConfidenceIntervalLower 13.166 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080592 387926 1824 32.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PDE3B Apolipoprotein B (30640) EFO_0004615 2.02e-14 2.02 -14 "" -0.197 -0.117 -0.157 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 1993.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ALOX15 Eosinophil count (30150) EFO_0004842 9.25e-15 9.25 -15 "" -0.086 -0.051 -0.068 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 11222.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I50.9: Heart failure, unspecified EFO_0003144 1.25e-11 1.25 -11 2.445 oddsRatioConfidenceIntervalLower 3.168 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080022 387930 2407 78.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FANCA Ease of skin tanning - Never tan only burn (1727) EFO_0007009 3.93e-18 3.93 -18 0.745 oddsRatioConfidenceIntervalLower 0.797 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 1008.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ATM ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.04e-13 1.04 -13 1.997 oddsRatioConfidenceIntervalLower 2.397 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 165.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MFRP SphericalEquivalent l started wearing glasses contacts before 40 (RGC) EFO_0004731 1.01e-13 1.01 -13 "" 0.312 0.536 0.424 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081511 48821 48821 273.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IQGAP2 Reticulocyte count (30250) EFO_0007986 2.15e-12 2.15 -12 "" 0.126 0.224 0.175 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1402.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 Urea (30670) EFO_0009795 2.05e-11 2.05 -11 "" 0.2 0.366 0.283 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 476.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" SLC4A1 High light scatter reticulocyte count (30300) EFO_0007986 7.09e-25 7.09 -25 "" 1.546 2.272 1.909 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 25.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" SIX6 Spherical power left (5085) EFO_0004731 6.2e-21 6.2 -21 "" -0.276 -0.181 -0.228 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079268 107117 107117 1496.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL8A2 Impedance of whole body (23106) HP_0000924 8.7e-17 8.7 -17 "" 0.25 0.405 0.328 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 322.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PDE3B Hip circumference (49) EFO_0005093 5.7600000000000004e-21 5.76 -21 "" 0.153 0.234 0.193 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079253 430214 430214 2096.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 2.1200000000000002e-35 2.12 -35 4.714 oddsRatioConfidenceIntervalLower 6.021 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 140.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MEPE Heel bone mineral density BMD right (4124) EFO_0009270 3.410000000000001e-21 3.41 -21 "" -0.367 -0.241 -0.304 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079158 166266 166266 746.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ALB Apolipoprotein B (30640) EFO_0004615 4.1e-25 4.1 -25 "" 0.633 0.929 0.781 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 146.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Leg fat mass right (23112) EFO_0005409 3.83e-25 3.83 -25 "" 0.181 0.265 0.223 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078915 423659 423659 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Whole body water mass (23102) EFO_0009805 3.06e-14 3.06 -14 "" 0.227 0.384 0.306 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 197.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC2A9 Urate (30880) EFO_0004531 1.7999999999999998e-138 1.8 -138 "" -0.736 -0.63 -0.683 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 887.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PROS1 VTE Composite CC (RGC) EFO_0003907 5.94e-14 5.94 -14 11.511 oddsRatioConfidenceIntervalLower 21.78 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081534 225913 5702 23.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BTN2A2 Reticulocyte count (30250) EFO_0007986 5.13e-12 5.13 -12 "" -0.092 -0.051 -0.071 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 8177.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Impedance of arm right (23109) HP_0000924 6.4500000000000004e-27 6.45 -27 "" 0.076 0.11 0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 5848.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" JAK2 IGF 1 (30770) EFO_0004627 2.09e-20 2.09 -20 "" -0.217 -0.141 -0.179 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 2109.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" A1CF Gamma glutamyltransferase (30730) EFO_0004532 2.27e-12 2.27 -12 "" 0.355 0.63 0.493 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 150.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC1R Ease of skin tanning - Get very tanned (1727) EFO_0007009 9.55e-115 9.55 -115 0.404 oddsRatioConfidenceIntervalLower 0.437 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 594.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ALB Albumin (30600) EFO_0004535 2.16e-56 2.16 -56 "" -1.376 -1.073 -1.224 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 148.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GP1BA Platelet distribution width (30110) EFO_0007984 7.36e-44 7.36 -44 "" 0.356 0.473 0.415 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 901.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD2 Cystatin C (30720) EFO_0004617 2.67e-17 2.67 -17 "" 0.521 0.836 0.678 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 105.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Haematocrit percentage (30030) EFO_0004348 3.28e-15 3.28 -15 "" -0.194 -0.117 -0.156 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1532.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Hand grip strength left (46) EFO_0006941 1.93e-11 1.93 -11 "" -0.076 -0.042 -0.059 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 5940.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SVEP1 Mean platelet thrombocyte volume (30100) EFO_0004584 2.68e-13 2.68 -13 "" -0.523 -0.302 -0.413 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 222.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SRSF2 Reticulocyte count (30250) EFO_0007986 1.95e-31 1.95 -31 "" 0.683 0.958 0.82 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 175.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C80: Malignant neoplasm without specification of site EFO_0000616 1.74e-13 1.74 -13 3.326 oddsRatioConfidenceIntervalLower 4.579 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079632 387252 2342 55.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TYR Ease of skin tanning - Get mildly or occasionally tanned (1727) EFO_0007009 6.59e-12 6.59 -12 1.364 oddsRatioConfidenceIntervalLower 1.491 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077604 422570 93163 742.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC4A1 Mean reticulocyte volume (30260) EFO_0010701 1.11e-15 1.11 -15 "" -1.822 -1.106 -1.464 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 25.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" EIF2AK1 High light scatter reticulocyte percentage (30290) EFO_0010700 1.1e-14 1.1 -14 "" 0.169 0.284 0.227 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1015.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK OralDiabetes Med (RGC) EFO_0007010 6.19e-16 6.19 -16 8.203 oddsRatioConfidenceIntervalLower 13.663 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081503 320758 13132 30.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 4.19e-44 4.19 -44 9.387 oddsRatioConfidenceIntervalLower 12.864 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 81.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS3 Impedance of leg left (23108) HP_0000924 1.97e-21 1.97 -21 "" -0.208 -0.137 -0.172 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 2184.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Trunk fat free mass (23129) EFO_0004995 2.55e-16 2.55 -16 "" 0.281 0.457 0.369 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 157.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR ICD10 E78: Disorders of lipoprotein metabolism and other lipidemias Orphanet_79062 1.8e-17 1.8 -17 3.435 oddsRatioConfidenceIntervalLower 4.564 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079768 372199 51365 94.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Sitting height (20015) EFO_0011011 1.1e-38 1.1 -38 "" 0.133 0.18 0.156 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 3061.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 3.5099999999999994e-23 3.51 -23 6.758 oddsRatioConfidenceIntervalLower 9.858 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 51.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APOB LipidLowering Med (RGC) EFO_0007010 1.41e-21 1.41 -21 0.267 oddsRatioConfidenceIntervalLower 0.35 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 45.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CAD Mean sphered cell volume (30270) EFO_0004526 4.13e-20 4.13 -20 "" 0.768 1.185 0.977 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 73.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" BRCA2 Age at menopause last menstrual period (3581) EFO_0004704 1.77e-11 1.77 -11 "" -0.107 -0.059 -0.083 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079064 140172 140172 6133.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Hip circumference (49) EFO_0005093 4.1e-16 4.1 -16 "" 0.167 0.273 0.22 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079253 430214 430214 1213.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CNPY2 Standing height (50) EFO_0004339 5.41e-14 5.41 -14 "" -0.427 -0.251 -0.339 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 166.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS10 Standing height (50) EFO_0004339 2.28e-27 2.28 -27 "" -0.228 -0.158 -0.193 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1051.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Whole body water mass (23102) EFO_0009805 9.86e-22 9.86 -22 "" -0.821 -0.542 -0.681 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 63.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ACAN Leg predicted mass left (23118) EFO_0004302 1e-13 10.0 -14 "" -0.512 -0.298 -0.405 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 115.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC4A1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.01e-12 2.01 -12 "" 0.085 0.151 0.118 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 3315.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANGPTL3 Apolipoprotein A (30630) EFO_0004732 1.7e-15 1.7 -15 "" -0.434 -0.262 -0.348 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 376.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Cystatin C (30720) EFO_0004617 2.49e-14 2.49 -14 "" 0.12 0.204 0.162 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 1501.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 2.54e-30 2.54 -30 14.668 oddsRatioConfidenceIntervalLower 23.235 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 39.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RP11-545J16.1 Direct bilirubin (30660) EFO_0004570 1.11e-75 1.11 -75 "" 0.239 0.296 0.267 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 3212.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPATA33 Hair colour natural before greying - Red (1747) EFO_0007822 3.66e-41 3.66 -41 0.217 oddsRatioConfidenceIntervalLower 0.272 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 43.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Ankle spacing width left (4100) EFO_0004324 8.06e-12 8.06 -12 "" 0.51 0.921 0.716 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079148 166283 166283 59.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MAMDC2 Corneal resistance factor left (5265) EFO_0010067 1.3e-13 1.3 -13 "" 0.155 0.267 0.211 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079340 105697 105697 1117.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGF1R Leg predicted mass right (23114) EFO_0004302 1.79e-21 1.79 -21 "" -0.49 -0.322 -0.406 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 185.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" CYP2R1 Vitamin D (30890) EFO_0004631 2.24e-16 2.24 -16 "" -0.334 -0.205 -0.269 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 849.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FCGRT Total protein (30860) EFO_0004536 1.1500000000000002e-27 1.15 -27 "" -1.976 -1.373 -1.674 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 38.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A8 Total bilirubin (30840) EFO_0004570 1e-15 10.0 -16 "" 0.323 0.532 0.428 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9811 9811 342.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR Non cancer illness code self reported - angina EFO_0003913 1.11e-15 1.11 -15 2.295 oddsRatioConfidenceIntervalLower 2.811 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077655 331754 14285 134.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CALR ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 3.9e-37 3.9 -37 38.783 oddsRatioConfidenceIntervalLower 68.106 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 31.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR ICD10 E78: Disorders of lipoprotein metabolism and other lipidemias Orphanet_79062 2.05e-38 2.05 -38 5.123 oddsRatioConfidenceIntervalLower 6.558 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079768 372199 51365 141.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CALR Red blood cell erythrocyte distribution width (30070) EFO_0009188 4.63e-18 4.63 -18 "" 0.735 1.165 0.95 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 71.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Reticulocyte count (30250) EFO_0007986 7.53e-13 7.53 -13 "" 0.498 0.872 0.685 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9692 9692 99.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CXCR2 White blood cell leukocyte count (30000) EFO_0004308 1.99e-17 1.99 -17 "" -0.538 -0.336 -0.437 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 335.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Haematocrit percentage (30030) EFO_0004348 7.12e-15 7.12 -15 "" -0.178 -0.106 -0.142 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1794.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 Self Report - breast cancer (20001) EFO_0000305 1.93e-15 1.93 -15 2.159 oddsRatioConfidenceIntervalLower 2.61 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077626 39614 10070 273.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Platelet count (30080) EFO_0004309 1.64e-17 1.64 -17 "" -0.217 -0.136 -0.176 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1779.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR ICD10 Z95: Presence of cardiac and vascular implants and grafts EFO_0002571 2.34e-12 2.34 -12 2.06 oddsRatioConfidenceIntervalLower 2.522 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081425 387795 16113 132.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" KLF1 Mean sphered cell volume (30270) EFO_0004526 9.05e-29 9.05 -29 "" -0.643 -0.45 -0.547 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 343.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RHAG High light scatter reticulocyte count (30300) EFO_0007986 2.12e-26 2.12 -26 "" 0.565 0.821 0.693 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 203.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASGR1 Alkaline phosphatase (30610) EFO_0004533 5.37e-152 5.37 -152 "" 0.947 1.099 1.023 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 514.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IRS1 Arm predicted mass left (23126) EFO_0004302 6.8e-20 6.8 -20 "" -0.538 -0.348 -0.443 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 140.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBA2 Mean corpuscular volume (30040) EFO_0004526 5.37e-17 5.37 -17 "" -0.353 -0.219 -0.286 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1039.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SH2B3 Platelet crit (30090) EFO_0007985 1.3e-13 1.3 -13 "" 0.239 0.41 0.324 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 400.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SF3B1 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 1.68e-19 1.68 -19 22.526 oddsRatioConfidenceIntervalLower 44.28 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 19.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TG Non cancer illness code self reported - hypothyroidism myxoedema EFO_0004705 2.08e-12 2.08 -12 1.914 oddsRatioConfidenceIntervalLower 2.294 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 165.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 3.01e-17 3.01 -17 16.134 oddsRatioConfidenceIntervalLower 30.761 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 20.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Impedance of leg left (23108) HP_0000924 8.12e-15 8.12 -15 "" -0.585 -0.349 -0.467 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 197.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Waist circumference (48) EFO_0004342 3.3e-13 3.3 -13 "" 0.314 0.545 0.429 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079228 430261 430261 202.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACAN Whole body water mass (23102) EFO_0009805 1.94e-19 1.94 -19 "" -0.578 -0.371 -0.475 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 115.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NRK Sitting height (20015) EFO_0011011 3.39e-13 3.39 -13 "" 0.186 0.323 0.254 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 259.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" NOTCH1 Type of Cancer: Chronic lymphocytic leukemia of B-cell type (40006) EFO_0000095 6.270000000000001e-27 6.27 -27 480.545 oddsRatioConfidenceIntervalLower 1482.21 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079124 74230 571 14.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IL33 Non cancer illness code self reported - asthma MONDO_0004979 1.97e-12 1.97 -12 0.709 oddsRatioConfidenceIntervalLower 0.78 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077671 331754 50973 448.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" THPO Platelet count (30080) EFO_0004309 6.09e-26 6.09 -26 "" -1.415 -0.971 -1.193 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 60.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SMAD6 3mm strong meridian right (5132) EFO_0004731 1.46e-15 1.46 -15 "" 0.269 0.445 0.357 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079298 103540 103540 404.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL6A1 Corneal resistance factor left (5265) EFO_0010067 2.4000000000000002e-30 2.4 -30 "" -1.483 -1.05 -1.266 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079340 105697 105697 73.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Forced vital capacity FVC Best measure (20151) EFO_0004312 1.63e-13 1.63 -13 "" 0.075 0.129 0.102 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078317 322002 322002 2310.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 Platelet distribution width (30110) EFO_0007984 1.17e-13 1.17 -13 "" 0.102 0.175 0.139 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 2362.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS17 Forced expiratory volume in 1 second FEV1 (3063) EFO_0004314 1.91e-11 1.91 -11 "" -0.098 -0.054 -0.076 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079017 395451 395451 3829.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PTPRH Platelet count (30080) EFO_0004309 1.98e-16 1.98 -16 "" -0.231 -0.142 -0.186 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1477.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS17 Sitting height (20015) EFO_0011011 1.33e-16 1.33 -16 "" -0.106 -0.065 -0.086 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 4115.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 ICD10 N28: Other disorders of kidney and ureter, not elsewhere classified EFO_0009690 5.54e-13 5.54 -13 10.007 oddsRatioConfidenceIntervalLower 18.715 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080595 387002 3413 19.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TYR Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 3.17e-21 3.17 -21 0.678 oddsRatioConfidenceIntervalLower 0.735 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 863.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Basal metabolic rate (23105) EFO_0007777 1.5e-13 1.5 -13 "" -0.073 -0.043 -0.058 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 5845.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" DCT Skin colour - Light olive (1717) EFO_0003784 5.19e-12 5.19 -12 0.679 oddsRatioConfidenceIntervalLower 0.758 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 386.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 ICD10 C92: Myeloid leukemia EFO_0002427 4.540000000000001e-21 4.54 -21 9.853 oddsRatioConfidenceIntervalLower 15.86 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 32.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GPLD1 Alkaline phosphatase (30610) EFO_0004533 8.34e-265 8.34 -265 "" -0.774 -0.691 -0.733 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 1773.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC45A2 Skin colour - Very fair (1717) EFO_0003784 3.58e-14 3.58 -14 3.107 oddsRatioConfidenceIntervalLower 4.166 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 77.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NPR2 Sitting height (20015) EFO_0011011 4.52e-20 4.52 -20 "" -0.23 -0.149 -0.189 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1036.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MED17 Mean corpuscular volume (30040) EFO_0004526 8.03e-15 8.03 -15 "" -0.549 -0.328 -0.439 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 243.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SH2B3 HDL cholesterol (30760) EFO_0004612 1.51e-34 1.51 -34 "" -0.202 -0.147 -0.174 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 3340.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LIPG HDL cholesterol (30760) EFO_0004612 1.38e-18 1.38 -18 "" 0.495 0.779 0.637 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 128.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SMAD6 3mm weak meridian right (5099) EFO_0004731 3.69e-19 3.69 -19 "" 0.602 0.94 0.771 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 108.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 8.18e-28 8.18 -28 "" -1.891 -1.316 -1.604 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2108 2108 44.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 1.0300000000000001e-21 1.03 -21 "" -1.333 -0.88 -1.106 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8544 8544 65.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CAD Mean sphered cell volume (30270) EFO_0004526 5.33e-40 5.33 -40 "" 0.318 0.428 0.373 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 1044.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" AEBP1 Impedance of arm left (23110) HP_0000924 3.72e-12 3.72 -12 "" 0.034 0.061 0.047 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 9494.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GGT1 Gamma glutamyltransferase (30730) EFO_0004532 1.4799999999999999e-152 1.48 -152 "" -1.105 -0.952 -1.028 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 498.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FGFR3 Standing height (50) EFO_0004339 1.53e-12 1.53 -12 "" -0.11 -0.063 -0.086 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2250.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SUPT5H Red blood cell erythrocyte distribution width (30070) EFO_0009188 7.69e-15 7.69 -15 "" 1.232 2.062 1.647 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 19.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" BRCA2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 1.16e-52 1.16 -52 5.462 oddsRatioConfidenceIntervalLower 6.792 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 151.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SMAD6 3mm weak meridian left (5096) EFO_0004731 1.29e-18 1.29 -18 "" 0.587 0.923 0.755 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 109.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TSHR Non cancer illness code self reported - hypothyroidism myxoedema/ICD10 E03 EFO_0004705 2.52e-13 2.52 -13 3.018 oddsRatioConfidenceIntervalLower 4.057 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077731 329052 18362 71.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SCUBE3 Sitting height (20015) EFO_0011011 2.04e-12 2.04 -12 "" -0.545 -0.307 -0.426 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 121.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RRBP1 Apolipoprotein B (30640) EFO_0004615 3.96e-18 3.96 -18 "" -1.001 -0.632 -0.817 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 94.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" SMAD6 6mm weak meridian right (5098) EFO_0004731 1.17e-19 1.17 -19 "" 0.346 0.537 0.442 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 338.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 3.15e-127 3.15 -127 "" -2.408 -2.044 -2.226 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 96.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ATM ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 1.13e-12 1.13 -12 2.849 oddsRatioConfidenceIntervalLower 3.802 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 69.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLCO1B1 Total bilirubin (30840) EFO_0004570 7.14e-58 7.14 -58 "" 0.25 0.32 0.285 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 2026.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Whole body fat free mass (23101) EFO_0004995 8.5e-19 8.5 -19 "" -0.568 -0.362 -0.465 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 115.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PDE3B HDL cholesterol (30760) EFO_0004612 1.12e-18 1.12 -18 "" 0.192 0.302 0.247 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 866.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN ICD10 I42.0: Dilated cardiomyopathy EFO_0000407 2.4e-31 2.4 -31 18.244 oddsRatioConfidenceIntervalLower 29.742 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079998 387930 858 35.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" TET2 Cystatin C (30720) EFO_0004617 3.81e-17 3.81 -17 "" 0.127 0.204 0.165 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 1763.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MSH2 ICD10 C18: Malignant neoplasm of colon EFO_1001950 2.27e-17 2.27 -17 23.825 oddsRatioConfidenceIntervalLower 49.585 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079581 387657 3899 17.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" FERMT3 High light scatter reticulocyte count (30300) EFO_0007986 7.45e-13 7.45 -13 "" -0.088 -0.05 -0.069 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 9731.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANGPTL7 6mm strong meridian left (5134) EFO_0004731 3.06e-17 3.06 -17 "" 0.144 0.231 0.188 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079300 89735 89735 1623.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - ezetimibe EFO_0007010 1.99e-52 1.99 -52 8.561 oddsRatioConfidenceIntervalLower 11.284 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078226 320758 2675 96.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FCGRT Albumin (30600) EFO_0004535 8.809999999999999e-38 8.81 -38 "" -1.625 -1.194 -1.41 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 74.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SCUBE3 Standing height (50) EFO_0004339 5.13e-16 5.13 -16 "" -0.533 -0.325 -0.429 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 121.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MIP ICD10 H26: Other cataract MONDO_0005129 1.53e-30 1.53 -30 14.472 oddsRatioConfidenceIntervalLower 22.832 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079893 384442 20291 46.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TYR Hair colour natural before greying - Dark brown (1747) EFO_0007822 3e-21 3.0 -21 0.659 oddsRatioConfidenceIntervalLower 0.718 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 839.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PALB2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 2.08e-26 2.08 -26 5.348 oddsRatioConfidenceIntervalLower 7.284 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 72.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A5 Total bilirubin (30840) EFO_0004570 6.67e-27 6.67 -27 "" 0.2 0.289 0.244 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1661.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SH2B3 HDL cholesterol (30760) EFO_0004612 7.52e-13 7.52 -13 "" -0.174 -0.099 -0.137 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1857.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IRS1 Standing height (50) EFO_0004339 7.94e-25 7.94 -25 "" -0.593 -0.403 -0.498 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 145.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CREB3L3 Apolipoprotein A (30630) EFO_0004732 5.06e-14 5.06 -14 "" -0.435 -0.255 -0.345 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 343.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EPB41 Reticulocyte percentage (30240) EFO_0010700 3.53e-22 3.53 -22 "" 0.546 0.824 0.685 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 179.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MAP3K15 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.26e-13 1.26 -13 "" -0.107 -0.062 -0.084 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 3428.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NOTCH1 Type of Cancer: Lymphoid leukemia (40006) EFO_0004289 5.93e-25 5.93 -25 361.99 oddsRatioConfidenceIntervalLower 1108.67 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079125 74230 699 14.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A5 Total bilirubin (30840) EFO_0004570 2.74e-13 2.74 -13 "" 0.31 0.538 0.424 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 254.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOC3 Triglycerides (30870) EFO_0004530 1.67e-99 1.67 -99 "" -1.279 -1.062 -1.17 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 270.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 Smoking status - Never (20116) EFO_0006527 2.12e-30 2.12 -30 0.491 oddsRatioConfidenceIntervalLower 0.554 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078300 429255 232790 375.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MEN1 ICD10 E21: Hyperparathyroidism and other disorders of parathyroid gland EFO_0008506 8.13e-23 8.13 -23 737.503 oddsRatioConfidenceIntervalLower 2750.38 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079753 387625 1168 10.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Trunk predicted mass (23130) EFO_0004324 5.92e-18 5.92 -18 "" -0.079 -0.05 -0.064 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 5839.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CALR Mean platelet thrombocyte volume (30100) EFO_0004584 1.21e-14 1.21 -14 "" -0.968 -0.576 -0.772 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 71.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 3.15e-127 3.15 -127 "" -2.408 -2.044 -2.226 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 96.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 8.7e-18 8.7 -18 3.192 oddsRatioConfidenceIntervalLower 4.16 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 87.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Impedance of leg right (23107) HP_0000924 1.16e-17 1.16 -17 "" 0.108 0.172 0.14 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 2646.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" THBS3 Impedance of arm right (23109) HP_0000924 8.22e-16 8.22 -16 "" -0.1 -0.061 -0.08 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 4411.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MEN1 ICD10 E21: Hyperparathyroidism and other disorders of parathyroid gland EFO_0008506 7.35e-15 7.35 -15 26.832 oddsRatioConfidenceIntervalLower 61.467 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079753 387625 1168 13.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CD36 Platelet crit (30090) EFO_0007985 6.26e-12 6.26 -12 "" -0.13 -0.072 -0.101 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 3610.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ITGB3 Platelet crit (30090) EFO_0007985 1.32e-13 1.32 -13 "" -0.166 -0.096 -0.131 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 2455.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADH1B Apolipoprotein A (30630) EFO_0004732 5.74e-17 5.74 -17 "" 0.076 0.123 0.1 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 5078.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPATA33 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 7.550000000000001e-21 7.55 -21 0.66 oddsRatioConfidenceIntervalLower 0.72 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 547.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR ICD10 I20: Angina pectoris EFO_0003913 4.51e-16 4.51 -16 2.069 oddsRatioConfidenceIntervalLower 2.466 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079968 386565 22332 178.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTA1 Direct bilirubin (30660) EFO_0004570 4.1200000000000004e-27 4.12 -27 "" 0.393 0.567 0.48 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 333.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R Leg predicted mass left (23118) EFO_0004302 8.35e-13 8.35 -13 "" -0.138 -0.079 -0.109 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 1485.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" JAK2 ICD10 R16.1: Splenomegaly, not elsewhere classified HP_0001744 1.26e-18 1.26 -18 9.535 oddsRatioConfidenceIntervalLower 15.747 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080804 387798 515 26.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MYO6 hearing loss (RGC) EFO_0004238 9.93e-18 9.93 -18 2.143 oddsRatioConfidenceIntervalLower 2.55 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 282.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ALB Albumin (30600) EFO_0004535 5.07e-171 5.07 -171 "" -2.426 -2.107 -2.266 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 134.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR CAD Loose CC (RGC) EFO_0001645 9.35e-26 9.35 -26 2.222 oddsRatioConfidenceIntervalLower 2.579 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081465 387011 33971 273.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MLH1 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 1.18e-21 1.18 -21 20.084 oddsRatioConfidenceIntervalLower 37.151 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 24.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" ZFAT Arm fat free mass left (23125) EFO_0004995 3.86e-61 3.86 -61 "" 0.103 0.13 0.116 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 6709.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MIP Non cancer illness code self reported - cataract/ICD10 H26 MONDO_0005129 4.33e-14 4.33 -14 6.725 oddsRatioConfidenceIntervalLower 11.028 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077757 329052 7792 29.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS17 Impedance of whole body (23106) HP_0000924 1.16e-17 1.16 -17 "" -0.117 -0.073 -0.095 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 4065.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LRP2 Creatinine (30700) EFO_0004518 4.7400000000000006e-21 4.74 -21 "" -0.524 -0.344 -0.434 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 270.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Arm predicted mass right (23122) EFO_0004302 3.75e-20 3.75 -20 "" -0.082 -0.053 -0.068 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 5844.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GGT1 Gamma glutamyltransferase (30730) EFO_0004532 9.19e-117 9.19 -117 "" -1.066 -0.898 -0.982 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 416.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANK1 ICD10 D73: Diseases of spleen EFO_0009002 1.08e-11 1.08 -11 110.796 oddsRatioConfidenceIntervalLower 430.723 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079718 387896 692 6.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" ABCB4 Alanine aminotransferase (30620) EFO_0004735 9.36e-16 9.36 -16 "" 0.46 0.756 0.608 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 141.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Whole body water mass (23102) EFO_0009805 5.8e-17 5.8 -17 "" -0.077 -0.048 -0.063 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 5845.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Arm fat percentage right (23119) EFO_0007800 7.4e-12 7.4 -12 "" 0.248 0.446 0.347 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078922 423608 423608 197.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CACNA1F Age started wearing glasses or contact lenses (2217) EFO_0004731 7.67e-13 7.67 -13 "" -0.825 -0.471 -0.648 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078869 374837 374837 64.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TYRP1 Ease of skin tanning - Get mildly or occasionally tanned (1727) EFO_0007009 4.25e-12 4.25 -12 1.399 oddsRatioConfidenceIntervalLower 1.539 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077604 422570 93163 652.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - ezetrol 10mg tablet EFO_0007010 8.66e-17 8.66 -17 7.941 oddsRatioConfidenceIntervalLower 12.937 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078227 320758 843 29.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR LDL direct (30780) EFO_0004611 7.33e-17 7.33 -17 "" 0.586 0.946 0.766 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 107.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" PKD2 Creatinine (30700) EFO_0004518 6.36e-12 6.36 -12 "" 0.362 0.651 0.506 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 105.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC1R Use of sun uv protection - Sometimes (2267) EFO_0010729 1.97e-13 1.97 -13 0.811 oddsRatioConfidenceIntervalLower 0.858 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078880 430409 150448 1795.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LPA Lipoprotein A (30790) EFO_0006925 9.93e-23 9.93 -23 "" -0.428 -0.285 -0.357 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079034 329317 329317 748.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I48: Atrial fibrillation and flutter EFO_0000275 2.8000000000000003e-23 2.8 -23 3.172 oddsRatioConfidenceIntervalLower 3.984 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080015 386856 20107 121.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" PKD1 ICD10 I12: Hypertensive chronic kidney disease MONDO_0024633 7.83e-28 7.83 -28 31.606 oddsRatioConfidenceIntervalLower 58.692 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079964 387912 1660 25.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CGNL1 Cystatin C (30720) EFO_0004617 6.51e-18 6.51 -18 "" 0.342 0.543 0.443 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 256.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Reticulocyte percentage (30240) EFO_0010700 2.4e-25 2.4 -25 "" 0.189 0.277 0.233 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1767.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TNFRSF17 Total protein (30860) EFO_0004536 5.8e-12 5.8 -12 "" -0.393 -0.219 -0.306 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 454.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Whole body water mass (23102) EFO_0009805 1.77e-16 1.77 -16 "" 0.221 0.36 0.291 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 257.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 4.21e-16 4.21 -16 9.496 oddsRatioConfidenceIntervalLower 16.335 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 25.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 1.0900000000000001e-36 1.09 -36 "" -2.951 -2.159 -2.555 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 19.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TPM4 Mean platelet thrombocyte volume (30100) EFO_0004584 1.43e-12 1.43 -12 "" 0.674 1.19 0.932 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 41.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CAD Mean corpuscular volume (30040) EFO_0004526 1.42e-26 1.42 -26 "" 0.53 0.769 0.649 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 210.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.63e-78 2.63 -78 "" 0.453 0.559 0.506 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1167.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PTPRH Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.26e-11 1.26 -11 "" 0.072 0.13 0.101 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3852.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Haemoglobin concentration (30020) EFO_0004509 1.4e-13 1.4 -13 "" -2.212 -1.285 -1.748 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 10.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" PROS1 VTE Composite CC (RGC) EFO_0004286 5.94e-14 5.94 -14 11.511 oddsRatioConfidenceIntervalLower 21.78 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081534 225913 5702 23.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Comparative body size at age 10 - Plumper (1687) EFO_0009819 1.44e-14 1.44 -14 3.68 oddsRatioConfidenceIntervalLower 5.128 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077589 423612 68629 69.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LDLR CAD (RGC) EFO_0001645 1.24e-12 1.24 -12 6.538 oddsRatioConfidenceIntervalLower 10.977 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081466 283203 28605 31.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PKD1 Cystatin C (30720) EFO_0004617 2.89e-49 2.89 -49 "" 0.895 1.169 1.032 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 138.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" MSH2 ICD10 C18: Malignant neoplasm of colon EFO_1001950 3.95e-16 3.95 -16 19.554 oddsRatioConfidenceIntervalLower 40.007 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079581 387657 3899 17.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GPLD1 Alkaline phosphatase (30610) EFO_0004533 5.26e-17 5.26 -17 "" -0.966 -0.6 -0.783 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9849 9849 98.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" JAK2 High light scatter reticulocyte percentage (30290) EFO_0010700 1.17e-16 1.17 -16 "" 0.128 0.207 0.167 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 2136.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ALDOB Creatinine (30700) EFO_0004518 2.04e-15 2.04 -15 "" -0.09 -0.055 -0.072 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 6916.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 ICD10 D36.1: Benign neoplasm of peripheral nerves and autonomic nervous system EFO_0002422 1.49e-48 1.49 -48 82.269 oddsRatioConfidenceIntervalLower 148.451 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079694 387929 616 32.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL6A1 Corneal hysteresis left (5264) EFO_0010066 1.09e-25 1.09 -25 "" -1.384 -0.948 -1.166 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079339 105697 105697 73.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" KLF1 Mean corpuscular volume (30040) EFO_0004526 3.02e-85 3.02 -85 "" -1.204 -0.984 -1.094 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 250.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I50.0: Congestive heart failure (I50.0) EFO_0000373 1.79e-20 1.79 -20 3.095 oddsRatioConfidenceIntervalLower 3.93 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080020 387930 3182 99.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TRPM8 Total bilirubin (30840) EFO_0004570 2.23e-16 2.23 -16 "" 0.092 0.149 0.12 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 4017.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOA5 Triglycerides (30870) EFO_0004530 5.260000000000001e-72 5.26 -72 "" 0.71 0.885 0.797 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 417.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" DPP9 SHBG (30830) EFO_0004696 8.28e-12 8.28 -12 "" 0.203 0.367 0.285 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 391.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC30A8 Glycated haemoglobin HbA1c (30750) EFO_0004541 5.22e-17 5.22 -17 "" -0.325 -0.202 -0.264 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 775.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IL33 Non cancer illness code self reported - asthma MONDO_0004979 1.29e-12 1.29 -12 0.707 oddsRatioConfidenceIntervalLower 0.778 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077671 331754 50973 449.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SHOX Standing height (50) EFO_0004339 3.24e-23 3.24 -23 "" -1.31 -0.878 -1.094 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 27.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ITGA2B Platelet count (30080) EFO_0004309 6.06e-18 6.06 -18 "" -0.471 -0.297 -0.384 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 385.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 Sitting height (20015) EFO_0011011 1.66e-11 1.66 -11 "" 0.158 0.287 0.222 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 403.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GIGYF1 T2D (RGC) MONDO_0005148 4.58e-13 4.58 -13 4.769 oddsRatioConfidenceIntervalLower 7.28 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 42.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SIGIRR Lymphocyte count (30120) EFO_0004587 2.29e-13 2.29 -13 "" -0.229 -0.132 -0.181 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 1447.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" JAK2 ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 3.7500000000000003e-26 3.75 -26 5.148 oddsRatioConfidenceIntervalLower 6.973 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 67.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Trunk fat free mass (23129) EFO_0004995 3.76e-13 3.76 -13 "" 0.485 0.844 0.665 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 38.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.11e-11 1.11 -11 "" 1.319 2.39 1.855 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GCK T2D (RGC) MONDO_0005148 1.02e-26 1.02 -26 26.578 oddsRatioConfidenceIntervalLower 48.468 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 35.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B HDL cholesterol (30760) EFO_0004612 1.97e-39 1.97 -39 "" 0.282 0.381 0.331 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1066.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" OCA2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 2.95e-23 2.95 -23 3.777 oddsRatioConfidenceIntervalLower 4.91 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 122.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MEPE Speed of sound through heel (3146) EFO_0005654 1.5999999999999999e-31 1.6 -31 "" -0.365 -0.26 -0.313 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 1108.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PAPPA2 Sitting height (20015) EFO_0011011 1.51e-13 1.51 -13 "" -0.137 -0.08 -0.109 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 2053.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FLG Non cancer illness code self reported - eczema dermatitis/ICD10 L30 EFO_0005319 3.7800000000000003e-29 3.78 -29 1.717 oddsRatioConfidenceIntervalLower 1.888 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077854 329052 10233 550.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 5.57e-23 5.57 -23 4.39 oddsRatioConfidenceIntervalLower 5.888 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 74.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NF1 Non cancer illness code self reported - other neurological problem EFO_0000618 1.16e-18 1.16 -18 4.457 oddsRatioConfidenceIntervalLower 6.212 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077842 331754 1794 55.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPSB3 Trunk predicted mass (23130) EFO_0004324 8.36e-15 8.36 -15 "" -0.068 -0.041 -0.054 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 6510.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL1A1 Non cancer illness code self reported - bone disorder EFO_0004260 8.53e-17 8.53 -17 75.426 oddsRatioConfidenceIntervalLower 208.746 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077769 331754 988 12.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 4.8e-26 4.8 -26 "" 1.759 2.561 2.16 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 21.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SH2B3 Reticulocyte percentage (30240) EFO_0010700 5.58e-19 5.58 -19 "" 0.108 0.169 0.139 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 3655.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PCSK9 LDL direct (30780) EFO_0004611 1.76e-184 1.76 -184 "" -0.839 -0.733 -0.786 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 1184.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MYD88 ICD10 C91: Lymphoid leukemia EFO_0004289 6.71e-19 6.71 -19 26.458 oddsRatioConfidenceIntervalLower 54.52 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 17.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 Illnesses of mother - Breast cancer (20110) EFO_0009640 6.96e-25 6.96 -25 3.072 oddsRatioConfidenceIntervalLower 3.803 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 136.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 Non cancer illness code self reported - other neurological problem EFO_0000618 8.53e-25 8.53 -25 16.394 oddsRatioConfidenceIntervalLower 27.94 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077842 331754 1794 29.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" SH2B3 Haematocrit percentage (30030) EFO_0004348 1.28e-12 1.28 -12 "" 0.088 0.155 0.121 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 2047.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Standing height (50) EFO_0004339 1.81e-18 1.81 -18 "" 0.497 0.783 0.64 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 63.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" TTN Trunk fat free mass (23129) EFO_0004995 1.26e-18 1.26 -18 "" -0.08 -0.051 -0.066 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 5841.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC30A10 Alanine aminotransferase (30620) EFO_0004735 8.3e-18 8.3 -18 "" 0.168 0.268 0.218 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 1260.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HNF1A TAG ProbableT2D (RGC) MONDO_0005148 1.15e-11 1.15 -11 7.193 oddsRatioConfidenceIntervalLower 12.716 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081526 426342 17719 23.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANTXR1 Impedance of arm right (23109) HP_0000924 7.76e-19 7.76 -19 "" -0.188 -0.12 -0.154 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 1439.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLCO1B1 Total bilirubin (30840) EFO_0004570 7.14e-58 7.14 -58 "" 0.25 0.32 0.285 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 2026.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL6A1 Corneal resistance factor left (5265) EFO_0010067 2.4000000000000002e-30 2.4 -30 "" -1.483 -1.05 -1.266 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079340 105697 105697 73.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" JAK2 ICD10 D69.6: Thrombocytopenia, unspecified HP_0001873 5.41e-18 5.41 -18 4.89 oddsRatioConfidenceIntervalLower 7.009 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079714 387579 1788 46.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB High light scatter reticulocyte count (30300) EFO_0007986 2.49e-15 2.49 -15 "" 0.575 0.954 0.765 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9690 9690 99.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SCUBE3 Leg fat free mass left (23117) EFO_0004995 8.28e-13 8.28 -13 "" -0.154 -0.088 -0.121 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 1216.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" COL6A1 Corneal resistance factor right (5257) EFO_0010067 4.21e-13 4.21 -13 "" -1.666 -0.957 -1.312 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079336 105888 105888 27.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ZFAT Standing height (50) EFO_0004339 5.8100000000000005e-58 5.81 -58 "" 0.342 0.437 0.389 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 568.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TECTA Hearing difficulty problems - Yes (2247) EFO_0007616 4.36e-15 4.36 -15 1.841 oddsRatioConfidenceIntervalLower 2.144 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 309.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TUBB1 Mean platelet thrombocyte volume (30100) EFO_0004584 1.8199999999999997e-95 1.82 -95 "" 0.807 0.976 0.892 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 382.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBA2 Mean corpuscular volume (30040) EFO_0004526 1.13e-20 1.13 -20 "" -1.593 -1.04 -1.317 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 39.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC12A7 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.79e-24 6.79 -24 "" -0.186 -0.126 -0.156 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3620.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NOTCH1 Neutrophil percentage (30200) EFO_0007990 2.48e-20 2.48 -20 "" -1.545 -1.004 -1.274 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 47.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I48: Atrial fibrillation and flutter EFO_0000275 1.12e-36 1.12 -36 2.558 oddsRatioConfidenceIntervalLower 2.959 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080015 386856 20107 280.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" FGB IGF 1 (30770) EFO_0004627 6.25e-12 6.25 -12 "" 0.055 0.099 0.077 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 6386.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL4A4 Microalbumin in urine (30500) EFO_0010967 7.46e-57 7.46 -57 "" 0.636 0.815 0.726 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 463.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOB Non cancer illness code self reported - high cholesterol HP_0003124 1.02e-22 1.02 -22 0.194 oddsRatioConfidenceIntervalLower 0.269 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 23.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Leg fat free mass left (23117) EFO_0004995 1.3e-16 1.3 -16 "" 0.264 0.429 0.346 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 197.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TNFRSF13B Total protein (30860) EFO_0004536 1.19e-11 1.19 -11 "" -0.357 -0.197 -0.277 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 534.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OCA2 Skin colour - Very fair (1717) EFO_0003784 2.08e-261 2.08 -261 2.739 oddsRatioConfidenceIntervalLower 2.9 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 1935.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MSH6 Type of Cancer: Malignant neoplasm of corpus uteri (40006) EFO_0007532 2.68e-23 2.68 -23 6.57 oddsRatioConfidenceIntervalLower 9.522 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079110 41005 1612 54.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ARHGAP10 Mean platelet thrombocyte volume (30100) EFO_0004584 3.5e-27 3.5 -27 "" 0.138 0.2 0.169 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 2893.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Apolipoprotein B (30640) EFO_0004615 1.16e-65 1.16 -65 "" 0.345 0.435 0.39 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 1747.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FLG Asthma (RGC) MONDO_0004979 2.43e-17 2.43 -17 1.227 oddsRatioConfidenceIntervalLower 1.287 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081461 375465 61807 2344.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A7 Total bilirubin (30840) EFO_0004570 3.35e-36 3.35 -36 "" 0.261 0.357 0.309 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1419.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FCGRT Calcium (30680) EFO_0004838 5.59e-12 5.59 -12 "" -0.981 -0.546 -0.764 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 74.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" WNT1 Heel bone mineral density BMD T score automated (78) EFO_0009270 4.26e-15 4.26 -15 "" -0.564 -0.338 -0.451 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 236.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Weight (23098) EFO_0004338 8.74e-14 8.74 -14 "" 0.19 0.326 0.258 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 554.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" WNT1 Heel quantitative ultrasound index QUI direct entry left (4104) EFO_0004514 4.6e-13 4.6 -13 "" -0.629 -0.361 -0.495 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079151 166283 166283 167.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CLSPN Mean reticulocyte volume (30260) EFO_0010701 8.45e-12 8.45 -12 "" 0.26 0.47 0.365 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 295.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CRP C reactive protein (30710) EFO_0004458 4.33e-51 4.33 -51 "" -0.719 -0.553 -0.636 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079026 411229 411229 499.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 9.24e-12 9.24 -12 "" 1.418 2.563 1.99 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 10.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" LDLR CAD (RGC) EFO_0001645 6.66e-21 6.66 -21 2.156 oddsRatioConfidenceIntervalLower 2.531 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081466 283203 28605 238.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACO1 Red blood cell erythrocyte count (30010) EFO_0004305 3.21e-22 3.21 -22 "" 0.112 0.17 0.141 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 2911.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APEH Red blood cell erythrocyte count (30010) EFO_0004305 2.3e-12 2.3 -12 "" -0.225 -0.127 -0.176 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 975.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EPB41 High light scatter reticulocyte count (30300) EFO_0007986 1.39e-13 1.39 -13 "" 0.379 0.653 0.516 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 178.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Trunk predicted mass (23130) EFO_0004324 3.77e-24 3.77 -24 "" -0.104 -0.07 -0.087 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 4400.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SCUBE3 Trunk predicted mass (23130) EFO_0004324 1.28e-16 1.28 -16 "" -0.166 -0.102 -0.134 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 1216.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IFRD2 High light scatter reticulocyte percentage (30290) EFO_0010700 1.4e-11 1.4 -11 "" 0.282 0.512 0.397 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 254.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RNF20 Mean corpuscular haemoglobin (30050) EFO_0004527 5.63e-13 5.63 -13 "" -0.527 -0.302 -0.414 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 235.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SF3B1 Mean corpuscular haemoglobin (30050) EFO_0004527 4.3e-20 4.3 -20 "" 0.321 0.495 0.408 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 394.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.24e-26 2.24 -26 "" 0.129 0.187 0.158 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3860.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC12A7 Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.85e-17 5.85 -17 "" -0.197 -0.122 -0.16 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 2370.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" E2F4 Mean sphered cell volume (30270) EFO_0004526 1.64e-15 1.64 -15 "" 1.112 1.838 1.475 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 24.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Leg fat free mass right (23113) EFO_0004995 2.53e-17 2.53 -17 "" -0.093 -0.058 -0.075 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 4404.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BSN High light scatter reticulocyte count (30300) EFO_0007986 1.87e-11 1.87 -11 "" -0.058 -0.032 -0.045 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 20338.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TERT Mean corpuscular haemoglobin (30050) EFO_0004527 2.58e-17 2.58 -17 "" 0.362 0.58 0.471 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 250.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC9A3R2 Diastolic blood pressure automated reading (4079) EFO_0006336 4.79e-18 4.79 -18 "" -0.127 -0.08 -0.104 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079145 408215 408215 6337.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RTEL1 Mean corpuscular volume (30040) EFO_0004526 5e-18 5.0 -18 "" 0.32 0.507 0.414 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 339.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 7.66e-26 7.66 -26 4.753 oddsRatioConfidenceIntervalLower 6.357 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 74.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MPL Platelet crit (30090) EFO_0007985 2.89e-25 2.89 -25 "" 0.322 0.472 0.397 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 527.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MIP ICD10 H26.9: Unspecified cataract MONDO_0005129 5.410000000000001e-27 5.41 -27 7.182 oddsRatioConfidenceIntervalLower 10.285 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079892 387427 17761 60.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I42.0: Dilated cardiomyopathy EFO_0000407 2.4e-31 2.4 -31 18.244 oddsRatioConfidenceIntervalLower 29.742 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079998 387930 858 35.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" PKHD1 Gamma glutamyltransferase (30730) EFO_0004532 4.55e-15 4.55 -15 "" 0.145 0.242 0.194 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1214.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC39A5 Alkaline phosphatase (30610) EFO_0004533 6.96e-19 6.96 -19 "" 0.133 0.209 0.171 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 2095.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 Mean corpuscular haemoglobin (30050) EFO_0004527 1.49e-11 1.49 -11 "" 0.463 0.841 0.652 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 83.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IFT140 ICD10 N28.1: Cyst of kidney, acquired EFO_0009690 1.49e-11 1.49 -11 10.196 oddsRatioConfidenceIntervalLower 20.012 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080592 387926 1824 16.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF1R Sitting height (20015) EFO_0011011 2.15e-18 2.15 -18 "" -0.183 -0.116 -0.15 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1506.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" E2F8 Mean corpuscular volume (30040) EFO_0004526 2.49e-16 2.49 -16 "" 0.332 0.541 0.437 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 273.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGF1R Leg predicted mass right (23114) EFO_0004302 7.98e-22 7.98 -22 "" -0.213 -0.141 -0.177 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 995.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Leg predicted mass right (23114) EFO_0004302 2.02e-12 2.02 -12 "" -0.069 -0.039 -0.054 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 5845.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANGPTL8 Triglycerides (30870) EFO_0004530 3.770000000000001e-27 3.77 -27 "" -0.466 -0.323 -0.394 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 602.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 1.29e-19 1.29 -19 1.827 oddsRatioConfidenceIntervalLower 2.082 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 290.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MSH6 ICD10 Z80.0: Family history of malignant neoplasm of digestive organs EFO_0009640 1.37e-11 1.37 -11 5.053 oddsRatioConfidenceIntervalLower 8.081 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081329 385471 9455 29.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 6.53e-227 6.53 -227 "" -3.038 -2.689 -2.863 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 98.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" JAK2 Platelet crit (30090) EFO_0007985 3.54e-12 3.54 -12 "" 0.597 1.066 0.832 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 54.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" MC4R Body fat percentage (23099) EFO_0007800 9.17e-15 9.17 -15 "" 0.118 0.199 0.159 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078903 423464 423464 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MROH2A Total bilirubin (30840) EFO_0004570 9.33e-13 9.33 -13 "" -0.147 -0.084 -0.116 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 3279.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" POLE Mean reticulocyte volume (30260) EFO_0010701 1.14e-25 1.14 -25 "" 0.298 0.435 0.367 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 683.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ATR Mean reticulocyte volume (30260) EFO_0010701 5.94e-13 5.94 -13 "" -0.312 -0.178 -0.245 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 724.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPHK1 High light scatter reticulocyte percentage (30290) EFO_0010700 8.64e-40 8.64 -40 "" -0.179 -0.132 -0.156 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 6363.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" THBS3 Standing height (50) EFO_0004339 9.69e-17 9.69 -17 "" -0.126 -0.078 -0.102 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2272.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NOTCH1 ICD10 C91: Lymphoid leukemia EFO_0004289 1.4900000000000001e-33 1.49 -33 258.404 oddsRatioConfidenceIntervalLower 636.738 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 18.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MLXIP Mean platelet thrombocyte volume (30100) EFO_0004584 3.58e-19 3.58 -19 "" 0.08 0.125 0.102 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 5780.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC45A2 Hair colour natural before greying - Blonde (1747) EFO_0007822 1.23e-87 1.23 -87 3.68 oddsRatioConfidenceIntervalLower 4.186 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 456.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ABCB4 ICD10 K80: Cholelithiasis EFO_0004799 1.11e-14 1.11 -14 1.342 oddsRatioConfidenceIntervalLower 1.446 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080297 385441 17665 872.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Leg predicted mass left (23118) EFO_0004302 5.02e-15 5.02 -15 "" -0.087 -0.052 -0.069 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 4403.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CHEK2 Platelet crit (30090) EFO_0007985 2.64e-31 2.64 -31 "" 0.128 0.179 0.153 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 5040.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHEK2 Age at menopause last menstrual period (3581) EFO_0004704 2.4099999999999998e-30 2.41 -30 "" 0.319 0.451 0.385 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079064 140172 140172 796.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC7A9 Creatinine (30700) EFO_0004518 1.84e-18 1.84 -18 "" -0.141 -0.09 -0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 3310.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TFR2 Mean corpuscular volume (30040) EFO_0004526 1.09e-27 1.09 -27 "" 0.136 0.195 0.166 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 3379.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TMPRSS6 Haemoglobin concentration (30020) EFO_0004509 8.22e-24 8.22 -24 "" -0.24 -0.162 -0.201 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1412.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" THBS3 Impedance of arm left (23110) HP_0000924 1.71e-13 1.71 -13 "" -0.093 -0.054 -0.074 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 4410.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 1.88e-15 1.88 -15 2.462 oddsRatioConfidenceIntervalLower 3.075 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 120.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APC ICD10 D13: Benign neoplasm of other and ill-defined parts of digestive system EFO_0002422 6.31e-13 6.31 -13 6.01 oddsRatioConfidenceIntervalLower 9.797 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079664 387696 1532 27.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APC ICD10 D13.1: Benign neoplasm of stomach MONDO_0021449 1.5e-13 1.5 -13 17.563 oddsRatioConfidenceIntervalLower 37.568 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079663 387930 1028 14.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" POLE Mean sphered cell volume (30270) EFO_0004526 4.97e-29 4.97 -29 "" 0.138 0.196 0.167 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 3739.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CXCL6 Lymphocyte percentage (30180) EFO_0007993 3.51e-13 3.51 -13 "" 0.063 0.11 0.086 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 6166.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOC3 Apolipoprotein A (30630) EFO_0004732 1.62e-275 1.62 -275 "" 0.648 0.724 0.686 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1928.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOA5 Triglycerides (30870) EFO_0004530 5.4300000000000006e-27 5.43 -27 "" 0.582 0.842 0.712 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 188.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SH2B3 Cystatin C (30720) EFO_0004617 7.19e-14 7.19 -14 "" 0.231 0.394 0.312 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 387.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" DTL Standing height (50) EFO_0004339 3.79e-19 3.79 -19 "" -0.365 -0.234 -0.299 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 303.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ADCK3 Mean corpuscular haemoglobin (30050) EFO_0004527 1.11e-15 1.11 -15 "" -0.202 -0.123 -0.162 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1905.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TFR2 Mean corpuscular haemoglobin (30050) EFO_0004527 1.19e-28 1.19 -28 "" 0.252 0.36 0.306 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1024.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" G6PC Gamma glutamyltransferase (30730) EFO_0004532 5.45e-16 5.45 -16 "" 0.139 0.227 0.183 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1451.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MPL Platelet crit (30090) EFO_0007985 5.35e-18 5.35 -18 "" 0.312 0.495 0.403 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 355.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IQGAP2 Reticulocyte count (30250) EFO_0007986 2.15e-12 2.15 -12 "" 0.126 0.224 0.175 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1402.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 Illnesses of mother - None of the above group 2 (20110) EFO_0000493 1.16e-13 1.16 -13 0.808 oddsRatioConfidenceIntervalLower 0.854 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078283 423686 308506 4017.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SBNO2 White blood cell leukocyte count (30000) EFO_0004308 1.02e-14 1.02 -14 "" 0.212 0.356 0.284 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 658.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PFKM Haematocrit percentage (30030) EFO_0004348 1.88e-20 1.88 -20 "" 0.144 0.221 0.182 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1539.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PTPRH Glycated haemoglobin HbA1c (30750) EFO_0004541 1.43e-18 1.43 -18 "" 0.098 0.154 0.126 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 3771.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Impedance of leg left (23108) HP_0000924 2.43e-27 2.43 -27 "" -0.312 -0.216 -0.264 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NPR2 Standing height (50) EFO_0004339 3.46e-33 3.46 -33 "" -0.793 -0.57 -0.681 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 104.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Trunk fat free mass (23129) EFO_0004995 4.15e-18 4.15 -18 "" -0.904 -0.571 -0.737 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 44.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" ZFAT Whole body water mass (23102) EFO_0009805 1.56e-11 1.56 -11 "" 0.438 0.798 0.618 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 38.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" TTN Sitting height (20015) EFO_0011011 3.84e-18 3.84 -18 "" -0.092 -0.058 -0.075 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 5952.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS17 Seated height (51) EFO_0011011 5.95e-20 5.95 -20 "" -0.125 -0.081 -0.103 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 4115.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IFRD2 Reticulocyte percentage (30240) EFO_0010700 2.1300000000000002e-29 2.13 -29 "" 0.256 0.364 0.31 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1171.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Impedance of leg right (23107) HP_0000924 4.68e-13 4.68 -13 "" -0.548 -0.315 -0.431 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 197.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NF1 ICD10 D36.1: Benign neoplasm of peripheral nerves and autonomic nervous system EFO_0002422 9.5e-29 9.5 -29 9.787 oddsRatioConfidenceIntervalLower 14.628 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079694 387929 616 45.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" G6PD Glycated haemoglobin HbA1c (30750) EFO_0004541 4.85e-17 4.85 -17 "" -0.74 -0.46 -0.6 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9729 9729 98.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CD36 Platelet distribution width (30110) EFO_0007984 8.91e-16 8.91 -16 "" 0.136 0.224 0.18 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1621.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZNF229 Apolipoprotein B (30640) EFO_0004615 3.3899999999999998e-53 3.39 -53 "" -0.229 -0.178 -0.203 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 5150.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NBEAL2 Platelet crit (30090) EFO_0007985 5.99e-13 5.99 -13 "" -0.253 -0.145 -0.199 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 1004.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Arm fat mass left (23124) EFO_0005409 2.69e-15 2.69 -15 "" 0.387 0.642 0.514 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078927 423512 423512 197.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CASR Calcium (30680) EFO_0004838 1.65e-48 1.65 -48 "" 0.465 0.608 0.537 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 685.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 ICD10 D36.1: Benign neoplasm of peripheral nerves and autonomic nervous system EFO_0002422 1.49e-48 1.49 -48 82.269 oddsRatioConfidenceIntervalLower 148.451 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079694 387929 616 32.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ITGA2B Mean platelet thrombocyte volume (30100) EFO_0004584 2.73e-13 2.73 -13 "" 0.231 0.4 0.315 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 385.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LARP1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.31e-13 1.31 -13 "" 0.878 1.51 1.194 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 33.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" BRCA1 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 4.95e-16 4.95 -16 7.795 oddsRatioConfidenceIntervalLower 12.801 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 31.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LIPC HDL cholesterol (30760) EFO_0004612 9.010000000000001e-32 9.01 -32 "" 0.34 0.477 0.409 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 559.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NPR2 Seated height (51) EFO_0011011 5.78e-15 5.78 -15 "" -0.218 -0.13 -0.174 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 1036.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LRP5 Heel bone mineral density BMD (3148) EFO_0009270 6.71e-14 6.71 -14 "" -0.763 -0.447 -0.605 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 120.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GCK ICD10 E11.9: Type 2 diabetes mellitus without complications MONDO_0005148 9.29e-31 9.29 -31 9.804 oddsRatioConfidenceIntervalLower 14.453 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079741 385838 26590 60.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CXCR2 Neutrophil count (30140) EFO_0004833 2.03e-22 2.03 -22 "" -0.602 -0.4 -0.501 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 335.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GCK Non cancer illness code self reported - type 2 diabetes MONDO_0005148 2.64e-15 2.64 -15 9.982 oddsRatioConfidenceIntervalLower 17.656 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077724 331754 3497 23.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS17 Impedance of arm left (23110) HP_0000924 1.65e-11 1.65 -11 "" -0.288 -0.158 -0.223 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 394.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANGPTL8 Triglycerides (30870) EFO_0004530 1.8500000000000002e-29 1.85 -29 "" -0.489 -0.344 -0.417 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 587.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 Illnesses of mother - Breast cancer (20110) EFO_0009640 6.96e-25 6.96 -25 3.072 oddsRatioConfidenceIntervalLower 3.803 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 136.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PLA2G12A Glycated haemoglobin HbA1c (30750) EFO_0004541 2.93e-15 2.93 -15 "" -0.096 -0.058 -0.077 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 8108.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS3 Impedance of leg left (23108) HP_0000924 2.32e-17 2.32 -17 "" -0.232 -0.145 -0.188 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 1455.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Platelet distribution width (30110) EFO_0007984 3.0100000000000004e-32 3.01 -32 "" 0.209 0.293 0.251 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1779.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SIX6 avMSE (20261) EFO_0008385 3.76e-18 3.76 -18 "" -0.273 -0.172 -0.222 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078391 94332 94332 1333.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Arm fat free mass left (23125) EFO_0004995 3.57e-24 3.57 -24 "" 0.118 0.175 0.146 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 1594.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" STC2 Arm fat free mass left (23125) EFO_0004995 3.42e-19 3.42 -19 "" 0.081 0.126 0.104 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 2488.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 3.2200000000000005e-64 3.22 -64 "" 1.638 2.067 1.853 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GNB1 Neutrophil count (30140) EFO_0004833 2.95e-14 2.95 -14 "" 0.305 0.517 0.411 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 304.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A9 Total bilirubin (30840) EFO_0004570 3.43e-66 3.43 -66 "" 0.38 0.478 0.429 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1375.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FLG ChildhoodAsthmaCases vs AdultAsthmaCases (RGC) MONDO_0005405 4.49e-12 4.49 -12 1.438 oddsRatioConfidenceIntervalLower 1.594 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081472 43153 16952 787.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANKRD12 Red blood cell erythrocyte count (30010) EFO_0004305 1.18e-12 1.18 -12 "" 0.227 0.401 0.314 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 312.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TMEM102 SHBG (30830) EFO_0004696 1.08e-66 1.08 -66 "" -0.197 -0.157 -0.177 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 6846.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Platelet count (30080) EFO_0004309 5.89e-12 5.89 -12 "" -0.289 -0.161 -0.225 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 711.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" MC4R Arm fat free mass left (23125) EFO_0004995 1.15e-12 1.15 -12 "" 0.211 0.371 0.291 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 197.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC34A3 Phosphate (30810) EFO_0010968 9.900000000000001e-30 9.9 -30 "" -0.22 -0.155 -0.187 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 3223.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 2.62e-13 2.62 -13 4.955 oddsRatioConfidenceIntervalLower 7.608 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 34.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LDLR ICD10 E78.00: Pure hypercholesterolemia, unspecified HP_0003124 2.16e-21 2.16 -21 3.634 oddsRatioConfidenceIntervalLower 4.742 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079765 375399 5498 83.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Leg predicted mass left (23118) EFO_0004302 3.07e-31 3.07 -31 "" 0.185 0.259 0.222 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZNF12 IGF 1 (30770) EFO_0004627 1.12e-18 1.12 -18 "" 0.471 0.74 0.605 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 171.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 Cystatin C (30720) EFO_0004617 6.53e-14 6.53 -14 "" 0.136 0.232 0.184 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 1118.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TET2 Red blood cell erythrocyte count (30010) EFO_0004305 2.36e-12 2.36 -12 "" -0.167 -0.094 -0.13 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 1779.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Impedance of whole body (23106) HP_0000924 4.31e-13 4.31 -13 "" -0.461 -0.265 -0.363 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 197.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SF3B1 Haematocrit percentage (30030) EFO_0004348 7.16e-13 7.16 -13 "" -0.356 -0.203 -0.28 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 394.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 5.529999999999999e-42 5.53 -42 "" -1.398 -1.045 -1.221 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9830 9830 104.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SIX6 SphericalEquivalent l (RGC) EFO_0004731 6.39e-22 6.39 -22 "" -0.28 -0.185 -0.233 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081510 107117 107117 1496.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Leg predicted mass left (23118) EFO_0004302 1.62e-13 1.62 -13 "" -0.107 -0.062 -0.084 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 2642.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Arm fat free mass left (23125) EFO_0004995 1.23e-22 1.23 -22 "" -0.103 -0.068 -0.086 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 4403.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HNF1A T2D (RGC) MONDO_0005148 2.63e-13 2.63 -13 6.102 oddsRatioConfidenceIntervalLower 9.909 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 33.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS17 Impedance of arm right (23109) HP_0000924 7.11e-15 7.11 -15 "" -0.101 -0.06 -0.08 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 4064.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TSHR Treatment or Medication Code - levothyroxine sodium EFO_0007010 3.45e-14 3.45 -14 3.037 oddsRatioConfidenceIntervalLower 4.048 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078224 320758 19017 75.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLG AtopicDermatitis (RGC) EFO_0000274 8.8e-50 8.8 -50 1.825 oddsRatioConfidenceIntervalLower 1.976 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081462 276670 15131 822.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MSH6 Type of Cancer: Malignant neoplasm of corpus uteri (40006) EFO_0007532 4.9199999999999996e-30 4.92 -30 21.419 oddsRatioConfidenceIntervalLower 36.298 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079110 41005 1612 37.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GCK DD DM - Yes (2443) EFO_0000400 3.83e-33 3.83 -33 6.547 oddsRatioConfidenceIntervalLower 8.9 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078949 429739 22058 81.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD1 ICD10 Z94: Transplanted organ and tissue status EFO_0002571 1.06e-61 1.06 -61 57.077 oddsRatioConfidenceIntervalLower 92.078 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081418 387906 1305 47.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANKRD12 Touchscreen duration (630) EFO_0000689 1.1e-15 1.1 -15 "" 0.3 0.494 0.397 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079491 430751 430751 318.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PIEZO1 Standing height (50) EFO_0004339 2.18e-37 2.18 -37 "" -0.124 -0.091 -0.107 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 4766.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF1R Standing height (50) EFO_0004339 1.57e-19 1.57 -19 "" -0.165 -0.106 -0.135 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1508.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MIP Non cancer illness code self reported - cataract MONDO_0005129 1.19e-12 1.19 -12 10.297 oddsRatioConfidenceIntervalLower 19.589 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077756 331754 8629 19.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Direct bilirubin (30660) EFO_0004570 2.05e-12 2.05 -12 "" 0.455 0.808 0.632 "" SAS HANCESTRO_0006 UK Biobank 450k "" 8157 8157 95.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 1.11e-13 1.11 -13 17.214 oddsRatioConfidenceIntervalLower 36.478 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 16.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" LCORL Arm fat free mass left (23125) EFO_0004995 2e-12 2.0 -12 "" 0.233 0.413 0.323 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 157.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CXCR2 Neutrophil count (30140) EFO_0004833 8.96e-12 8.96 -12 "" -0.701 -0.388 -0.545 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 139.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Arm fat mass left (23124) EFO_0005409 4.25e-26 4.25 -26 "" 0.257 0.374 0.315 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078927 423512 423512 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACAN Leg fat free mass left (23117) EFO_0004995 1.58e-16 1.58 -16 "" -0.756 -0.465 -0.611 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 63.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SMAD6 corneal power (RGC) EFO_0004731 1.19e-15 1.19 -15 "" 0.268 0.442 0.355 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081537 103531 103531 404.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PROS1 ICD10 I26.9: Pulmonary embolism without acute cor pulmonale MONDO_0004596 1.72e-13 1.72 -13 10.124 oddsRatioConfidenceIntervalLower 18.739 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079983 387510 5096 20.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ARHGAP10 Mean platelet thrombocyte volume (30100) EFO_0004584 2.63e-14 2.63 -14 "" 0.201 0.34 0.27 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 562.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC22A2 Lipoprotein A (30790) EFO_0006925 1.91e-155 1.91 -155 "" 0.724 0.84 0.782 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079034 329317 329317 1156.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RHAG Mean sphered cell volume (30270) EFO_0004526 1.19e-21 1.19 -21 "" -0.626 -0.413 -0.52 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 284.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 4.34e-47 4.34 -47 5.292 oddsRatioConfidenceIntervalLower 6.637 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 135.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FLG Non cancer illness code self reported - eczema dermatitis/ICD10 L30 EFO_0005319 3.7800000000000003e-29 3.78 -29 1.717 oddsRatioConfidenceIntervalLower 1.888 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077854 329052 10233 550.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MEPE Heel quantitative ultrasound index QUI direct entry right (4123) EFO_0004514 9.63e-22 9.63 -22 "" -0.371 -0.245 -0.308 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079157 166358 166358 748.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PLIN1 HDL cholesterol (30760) EFO_0004612 2.5000000000000002e-22 2.5 -22 "" 0.23 0.346 0.288 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 774.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 Illnesses of siblings - Breast cancer (20111) EFO_0009640 4.8700000000000005e-21 4.87 -21 4.075 oddsRatioConfidenceIntervalLower 5.461 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 74.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ATM ICD10 C50: Malignant neoplasm of breast EFO_0003869 2.61e-16 2.61 -16 2.759 oddsRatioConfidenceIntervalLower 3.518 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 99.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GJB2 hearing loss (RGC) EFO_0004238 8.71e-15 8.71 -15 1.243 oddsRatioConfidenceIntervalLower 1.313 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 2266.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I50: Heart failure EFO_0003144 3.59e-23 3.59 -23 4.454 oddsRatioConfidenceIntervalLower 5.984 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080023 387076 8159 73.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" CKAP2L Mean platelet thrombocyte volume (30100) EFO_0004584 4.32e-17 4.32 -17 "" -0.302 -0.188 -0.245 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 841.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SF3B1 Mean corpuscular volume (30040) EFO_0004526 1.39e-20 1.39 -20 "" 0.326 0.501 0.413 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 394.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CAD Red blood cell erythrocyte count (30010) EFO_0004305 1.27e-12 1.27 -12 "" -0.491 -0.278 -0.384 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 210.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Leg predicted mass left (23118) EFO_0004302 1.01e-16 1.01 -16 "" 0.264 0.427 0.345 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 197.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TMPRSS6 Red blood cell erythrocyte distribution width (30070) EFO_0009188 8.03e-41 8.03 -41 "" 0.556 0.746 0.651 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 361.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 High light scatter reticulocyte percentage (30290) EFO_0010700 9.28e-22 9.28 -22 "" 0.793 1.2 0.996 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 81.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SH2B3 Lymphocyte count (30120) EFO_0004587 6.03e-20 6.03 -20 "" 0.111 0.172 0.141 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 3691.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 Mothers age at death (3526) EFO_0007796 2.28e-18 2.28 -18 "" -0.329 -0.208 -0.269 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 970.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.89e-13 3.89 -13 "" -2.532 -1.456 -1.994 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 14.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Basal metabolic rate (23105) EFO_0007777 1.96e-15 1.96 -15 "" 0.253 0.418 0.336 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 197.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NR1H3 HDL cholesterol (30760) EFO_0004612 7.26e-14 7.26 -14 "" 0.149 0.256 0.203 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 922.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APC ICD10 Z93: Artificial opening status EFO_0002571 4.01e-22 4.01 -22 27.213 oddsRatioConfidenceIntervalLower 53.156 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081416 387863 3783 21.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TNFSF13 Total protein (30860) EFO_0004536 8.66e-15 8.66 -15 "" -0.669 -0.399 -0.534 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 189.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Whole body water mass (23102) EFO_0009805 9.86e-22 9.86 -22 "" -0.821 -0.542 -0.681 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 63.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CHD2 Lymphocyte percentage (30180) EFO_0007993 1.21e-13 1.21 -13 "" 0.791 1.36 1.076 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 41.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" SPTA1 Reticulocyte percentage (30240) EFO_0010700 2.9700000000000002e-58 2.97 -58 "" 0.7 0.894 0.797 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 365.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Treatment or Medication Code - warfarin EFO_0007010 5.36e-12 5.36 -12 2.208 oddsRatioConfidenceIntervalLower 2.766 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078123 320758 4740 102.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Impedance of leg left (23108) HP_0000924 1.19e-11 1.19 -11 "" 0.054 0.098 0.076 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 5849.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Standing height (50) EFO_0004339 4.21e-19 4.21 -19 "" 0.088 0.138 0.113 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2097.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" JAK2 Platelet count (30080) EFO_0004309 1.5100000000000001e-27 1.51 -27 "" 0.619 0.891 0.755 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 159.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TUBB1 Platelet count (30080) EFO_0004309 1.62e-23 1.62 -23 "" -1.102 -0.741 -0.921 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 89.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" COL1A1 Sitting height (20015) EFO_0011011 3.21e-13 3.21 -13 "" -1.118 -0.644 -0.881 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 30.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" CCNF Mean corpuscular volume (30040) EFO_0004526 3.65e-13 3.65 -13 "" 0.159 0.276 0.217 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 871.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MEPE Speed of sound through heel left (4103) EFO_0005654 1.05e-21 1.05 -21 "" -0.378 -0.249 -0.313 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079150 166283 166283 747.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 C78.6: Secondary malignant neoplasm of retroperitoneum and peritoneum EFO_0009812 3.04e-12 3.04 -12 8.118 oddsRatioConfidenceIntervalLower 14.62 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079623 387930 1833 20.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NR1H3 Apolipoprotein A (30630) EFO_0004732 2.53e-12 2.53 -12 "" 0.101 0.18 0.14 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1790.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Leg fat mass right (23112) EFO_0005409 6.79e-14 6.79 -14 "" 0.294 0.502 0.398 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078915 423659 423659 197.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RP11-545J16.1 Direct bilirubin (30660) EFO_0004570 8.56e-42 8.56 -42 "" 0.158 0.212 0.185 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 3640.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PRPH2 Eye problems disorders - Macular degeneration (6148) EFO_0009606 3.99e-12 3.99 -12 83.554 oddsRatioConfidenceIntervalLower 291.705 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079434 37798 4185 12.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANKRD12 Total protein (30860) EFO_0004536 1.81e-20 1.81 -20 "" -0.631 -0.411 -0.521 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 282.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OCA2 Hair colour natural before greying - Black (1747) EFO_0007822 6.82e-46 6.82 -46 0.42 oddsRatioConfidenceIntervalLower 0.474 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077610 429979 20623 219.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RP11-545J16.1 Total bilirubin (30840) EFO_0004570 7.96e-40 7.96 -40 "" 0.08 0.108 0.094 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 12956.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PLA2G12A Triglycerides (30870) EFO_0004530 6.769999999999999e-52 6.77 -52 "" 0.132 0.171 0.152 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 8109.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TMEM102 SHBG (30830) EFO_0004696 2.02e-63 2.02 -63 "" -0.188 -0.148 -0.168 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 7247.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Haematocrit percentage (30030) EFO_0004348 1.64e-27 1.64 -27 "" -1.101 -0.764 -0.932 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MEPE Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 4.38e-12 4.38 -12 "" -0.327 -0.183 -0.255 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 576.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TFRC Mean corpuscular haemoglobin (30050) EFO_0004527 5.68e-55 5.68 -55 "" -1.665 -1.294 -1.479 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 87.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OCA2 Skin colour - Very fair (1717) EFO_0003784 7.45e-28 7.45 -28 5.326 oddsRatioConfidenceIntervalLower 7.186 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 85.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYRP1 Hair colour natural before greying - Blonde (1747) EFO_0007822 8.85e-41 8.85 -41 1.54 oddsRatioConfidenceIntervalLower 1.641 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 1428.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADCK3 Mean corpuscular volume (30040) EFO_0004526 3.12e-17 3.12 -17 "" -0.211 -0.132 -0.171 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1905.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR ICD10 I25.9: Chronic ischemic heart disease, unspecified EFO_0003777 1.14e-13 1.14 -13 2.106 oddsRatioConfidenceIntervalLower 2.563 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079981 386241 17106 141.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADCY3 Comparative body size at age 10 - Plumper (1687) EFO_0009819 1.09e-11 1.09 -11 1.611 oddsRatioConfidenceIntervalLower 1.849 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077589 423612 68629 301.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GCK Non cancer illness code self reported - type 2 diabetes/ICD10 E11 MONDO_0005148 8.91e-14 8.91 -14 8.305 oddsRatioConfidenceIntervalLower 14.488 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077725 329052 3203 23.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Leg predicted mass right (23114) EFO_0004302 9.74e-14 9.74 -14 "" 0.254 0.436 0.345 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 157.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MYO6 Hearing aid user - Yes (3393) EFO_0009720 1.63e-20 1.63 -20 6.19 oddsRatioConfidenceIntervalLower 9.095 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079053 281979 15741 52.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 7.31e-26 7.31 -26 4.743 oddsRatioConfidenceIntervalLower 6.34 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 86.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RHAG Reticulocyte count (30250) EFO_0007986 2.57e-13 2.57 -13 "" 0.381 0.66 0.52 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 171.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CXCL2 Neutrophil count (30140) EFO_0004833 1.13e-18 1.13 -18 "" -1.004 -0.639 -0.822 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 102.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC45A2 Ease of skin tanning - Get very tanned (1727) EFO_0007009 4.03e-66 4.03 -66 0.385 oddsRatioConfidenceIntervalLower 0.429 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 305.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" STAB1 Cholesterol (30690) EFO_0004574 2.99e-12 2.99 -12 "" 0.078 0.139 0.109 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 3488.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GP1BB Platelet count (30080) EFO_0004309 2.85e-44 2.85 -44 "" -1.92 -1.447 -1.683 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 52.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ARHGAP10 Mean platelet thrombocyte volume (30100) EFO_0004584 3.5e-27 3.5 -27 "" 0.138 0.2 0.169 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 2893.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC ICD10 D12.8: Benign neoplasm of rectum EFO_0002422 1.01e-12 1.01 -12 16.669 oddsRatioConfidenceIntervalLower 36.126 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079661 387930 4111 14.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 Haemoglobin concentration (30020) EFO_0004509 9.44e-12 9.44 -12 "" -0.22 -0.122 -0.171 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 889.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC7A9 Cystatin C (30720) EFO_0004617 6.22e-12 6.22 -12 "" -0.126 -0.07 -0.098 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 3312.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CST3 Cystatin C (30720) EFO_0004617 2.0099999999999997e-30 2.01 -30 "" -3.444 -2.438 -2.941 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 11.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" BRCA2 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 1.6e-20 1.6 -20 8.832 oddsRatioConfidenceIntervalLower 13.987 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 35.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RASA2 Lymphocyte percentage (30180) EFO_0007993 1.15e-16 1.15 -16 "" -0.306 -0.189 -0.248 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 970.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A3 Direct bilirubin (30660) EFO_0004570 1.43e-40 1.43 -40 "" 0.354 0.476 0.415 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 860.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" E2F4 Mean corpuscular haemoglobin (30050) EFO_0004527 1.9e-21 1.9 -21 "" 1.361 2.068 1.714 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 24.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CHD2 ICD10 C91: Lymphoid leukemia EFO_0004289 6.34e-15 6.34 -15 44.191 oddsRatioConfidenceIntervalLower 114.533 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 11.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IRS1 Weight (21002) EFO_0004338 1.65e-11 1.65 -11 "" -0.589 -0.324 -0.456 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 145.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC22A12 Urate (30880) EFO_0004531 8.949999999999999e-48 8.95 -48 "" -0.842 -0.642 -0.742 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8534 8534 283.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Sitting height (20015) EFO_0011011 5.31e-18 5.31 -18 "" 0.35 0.555 0.452 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 161.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OR6K2 Mean sphered cell volume (30270) EFO_0004526 2.3e-12 2.3 -12 "" 0.07 0.124 0.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 4410.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Basal metabolic rate (23105) EFO_0007777 2.44e-62 2.44 -62 "" 0.107 0.136 0.121 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 6712.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 6mm weak meridian left (5097) EFO_0004731 2.85e-17 2.85 -17 "" 0.595 0.954 0.774 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 95.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HNF1A DD DM - Yes (2443) EFO_0000400 3.72e-13 3.72 -13 6.853 oddsRatioConfidenceIntervalLower 11.518 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078949 429739 22058 28.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PAPPA2 Arm fat free mass right (23121) EFO_0004995 8.69e-14 8.69 -14 "" -0.118 -0.069 -0.094 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 2008.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK T2D New Strict CC (RGC) MONDO_0005148 1.91e-11 1.91 -11 14.254 oddsRatioConfidenceIntervalLower 30.965 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081517 352271 11970 15.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" EML4 Impedance of arm left (23110) HP_0000924 5.47e-17 5.47 -17 "" -0.141 -0.088 -0.114 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 2348.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 5.28e-15 5.28 -15 3.308 oddsRatioConfidenceIntervalLower 4.465 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 67.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LCAT Apolipoprotein A (30630) EFO_0004732 3.1499999999999995e-23 3.15 -23 "" -1.348 -0.904 -1.126 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 57.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MSH2 Illnesses of siblings - Bowel cancer (20111) EFO_0009640 1e-12 10.0 -13 10.348 oddsRatioConfidenceIntervalLower 19.671 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078291 371732 9037 19.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANGPTL3 Triglycerides (30870) EFO_0004530 9.42e-18 9.42 -18 "" -0.781 -0.491 -0.636 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 147.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MSH6 ICD10 C54.1: Malignant neoplasm of endometrium MONDO_0011962 1.49e-14 1.49 -14 3.842 oddsRatioConfidenceIntervalLower 5.415 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079607 228786 1469 50.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 5.57e-23 5.57 -23 4.39 oddsRatioConfidenceIntervalLower 5.888 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 74.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CAD Red blood cell erythrocyte count (30010) EFO_0004305 2.13e-12 2.13 -12 "" -0.547 -0.309 -0.428 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 166.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Trunk predicted mass (23130) EFO_0004324 5.92e-18 5.92 -18 "" -0.079 -0.05 -0.064 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 5839.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB LDL direct (30780) EFO_0004611 9.7e-49 9.7 -49 "" -0.923 -0.705 -0.814 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 282.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" IGF1R Arm predicted mass right (23122) EFO_0004302 2.44e-16 2.44 -16 "" -0.417 -0.256 -0.336 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 185.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" ENPP1 Phosphate (30810) EFO_0010968 7.26e-14 7.26 -14 "" -0.541 -0.316 -0.429 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 268.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Impedance of arm right (23109) HP_0000924 2.87e-18 2.87 -18 "" 0.142 0.224 0.183 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 987.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" MYD88 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 5.110000000000001e-21 5.11 -21 80.695 oddsRatioConfidenceIntervalLower 201.438 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 13.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LPL Triglycerides (30870) EFO_0004530 8.44e-19 8.44 -19 "" 0.539 0.845 0.692 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 134.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD1 ICD10 Z46: Encounter for fitting and adjustment of other devices EFO_0004542 2.52e-12 2.52 -12 11.295 oddsRatioConfidenceIntervalLower 22.263 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081266 387928 6157 17.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" ELOVL7 Mean platelet thrombocyte volume (30100) EFO_0004584 5.3800000000000005e-21 5.38 -21 "" 0.166 0.253 0.209 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1448.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 Urea (30670) EFO_0009795 3.53e-29 3.53 -29 "" 0.483 0.688 0.586 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 311.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MSH2 ICD10 Z08: Encounter for follow-up examination after completed treatment for malignant neoplasm EFO_0004542 1.06e-19 1.06 -19 19.168 oddsRatioConfidenceIntervalLower 36.254 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081200 387917 6079 22.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 ICD10 Y43: Adverse effects in the therapeutic use of primarily systemic agents (Y43) EFO_0000546 6.59e-14 6.59 -14 4.143 oddsRatioConfidenceIntervalLower 6.008 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081151 387930 3135 43.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NPR2 Comparative height size at age 10 - Shorter (1697) EFO_0004339 9.620000000000001e-21 9.62 -21 1.973 oddsRatioConfidenceIntervalLower 2.275 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 332.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANK1 Reticulocyte count (30250) EFO_0007986 5.81e-14 5.81 -14 "" 0.171 0.292 0.231 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 915.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PKD1 ICD10 N18: Chronic kidney disease (CKD) EFO_0003884 9.920000000000001e-43 9.92 -43 13.222 oddsRatioConfidenceIntervalLower 19.129 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080584 382843 10144 63.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTB Mean sphered cell volume (30270) EFO_0004526 1.57e-19 1.57 -19 "" -0.878 -0.565 -0.722 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 129.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOA5 Triglycerides (30870) EFO_0004530 5.260000000000001e-72 5.26 -72 "" 0.71 0.885 0.797 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 417.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PALB2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 1.23e-14 1.23 -14 1.929 oddsRatioConfidenceIntervalLower 2.28 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 187.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TYK2 Lymphocyte count (30120) EFO_0004587 1.92e-15 1.92 -15 "" 0.064 0.105 0.085 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 7855.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R TAG Obesity (RGC) EFO_0001073 5.860000000000001e-21 5.86 -21 2.369 oddsRatioConfidenceIntervalLower 2.836 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081522 246639 104086 371.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GCK Non cancer illness code self reported - diabetes EFO_0000400 3.84e-16 3.84 -16 4.075 oddsRatioConfidenceIntervalLower 5.714 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077722 331754 17927 58.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CXCR2 Neutrophil count (30140) EFO_0004833 2.03e-22 2.03 -22 "" -0.602 -0.4 -0.501 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 335.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Ankle spacing width left (4100) EFO_0004324 5.54e-12 5.54 -12 "" 0.481 0.863 0.672 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079148 166283 166283 68.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GIGYF1 Cholesterol (30690) EFO_0004574 1.55e-19 1.55 -19 "" -0.812 -0.522 -0.667 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 154.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TFRC Red blood cell erythrocyte count (30010) EFO_0004305 2.76e-24 2.76 -24 "" 0.689 1.018 0.853 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 87.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GP1BB Platelet distribution width (30110) EFO_0007984 2.5300000000000003e-21 2.53 -21 "" 0.933 1.42 1.177 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 52.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Arm predicted mass right (23122) EFO_0004302 9.72e-13 9.72 -13 "" 0.206 0.362 0.284 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 197.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APC ICD10 D12.6: Benign neoplasm of colon, unspecified EFO_0002422 3.66e-30 3.66 -30 47.964 oddsRatioConfidenceIntervalLower 93.242 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079659 387930 2672 24.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ACAN Whole body water mass (23102) EFO_0009805 1.94e-19 1.94 -19 "" -0.578 -0.371 -0.475 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 115.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Basal metabolic rate (23105) EFO_0007777 8.39e-25 8.39 -25 "" 0.124 0.182 0.153 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 1595.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" EGLN1 Haematocrit percentage (30030) EFO_0004348 1.72e-16 1.72 -16 "" 0.56 0.909 0.735 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 75.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RASA2 Lymphocyte count (30120) EFO_0004587 6.25e-12 6.25 -12 "" -0.464 -0.258 -0.361 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 318.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOB ICD10 E78.0: Pure hypercholesterolemia HP_0003124 4.86e-13 4.86 -13 0.303 oddsRatioConfidenceIntervalLower 0.419 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079766 378271 45730 27.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Mean platelet thrombocyte volume (30100) EFO_0004584 3.62e-16 3.62 -16 "" 0.124 0.202 0.163 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1779.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" KLF1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.89e-22 5.89 -22 "" 0.505 0.763 0.634 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 197.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SH2B3 Platelet crit (30090) EFO_0007985 4.46e-248 4.46 -248 "" 0.458 0.514 0.486 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 3695.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Arm fat mass right (23120) EFO_0005409 4.41e-15 4.41 -15 "" 0.382 0.637 0.51 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078923 423576 423576 197.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Whole body fat free mass (23101) EFO_0004995 1.9199999999999999e-38 1.92 -38 "" 0.113 0.154 0.134 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 3013.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MEPE Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 5.43e-38 5.43 -38 "" -0.417 -0.307 -0.362 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 985.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 Self Report - breast cancer (20001) EFO_0000305 2.43e-28 2.43 -28 5.573 oddsRatioConfidenceIntervalLower 7.561 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077626 39614 10070 160.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PROS1 VTE PE CC (RGC) EFO_0004286 4.08e-12 4.08 -12 2.826 oddsRatioConfidenceIntervalLower 3.791 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081536 376456 5226 63.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Leg predicted mass left (23118) EFO_0004302 2.44e-12 2.44 -12 "" 0.235 0.418 0.327 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 157.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" KLF1 Red blood cell erythrocyte count (30010) EFO_0004305 4.87e-14 4.87 -14 "" 0.276 0.47 0.373 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 250.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPTA1 Reticulocyte percentage (30240) EFO_0010700 2.9700000000000002e-58 2.97 -58 "" 0.7 0.894 0.797 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 365.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TECTA Hearing difficulty problems background noise - Yes (2257) EFO_0007616 3.71e-12 3.71 -12 1.226 oddsRatioConfidenceIntervalLower 1.299 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078878 422872 167296 2214.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TADA1 Mean platelet thrombocyte volume (30100) EFO_0004584 5.77e-17 5.77 -17 "" 0.298 0.48 0.389 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 339.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Arm fat free mass left (23125) EFO_0004995 1.42e-22 1.42 -22 "" 0.13 0.195 0.162 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CETP Apolipoprotein B (30640) EFO_0004615 4.82e-13 4.82 -13 "" -0.294 -0.169 -0.231 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 816.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GRK6 Neutrophil percentage (30200) EFO_0007990 2.57e-13 2.57 -13 "" 0.195 0.337 0.266 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 678.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Impedance of arm left (23110) HP_0000924 4.82e-16 4.82 -16 "" 0.129 0.212 0.171 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 987.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" TTN ICD10 I50.1: Left ventricular failure, unspecified EFO_0003144 2.49e-17 2.49 -17 3.017 oddsRatioConfidenceIntervalLower 3.896 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080021 387725 4762 86.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TET2 White blood cell leukocyte count (30000) EFO_0004308 1.12e-14 1.12 -14 "" -0.234 -0.139 -0.187 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 1517.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PIEZO1 Trunk predicted mass (23130) EFO_0004324 8.02e-13 8.02 -13 "" -0.056 -0.032 -0.044 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 8420.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Trunk predicted mass (23130) EFO_0004324 8.16e-18 8.16 -18 "" -0.895 -0.562 -0.728 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 44.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" NF1 ICD10 D36: Benign neoplasm of other and unspecified sites EFO_0002422 5.21e-47 5.21 -47 61.223 oddsRatioConfidenceIntervalLower 107.185 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079695 387660 899 34.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TECTA Hearing difficulty problems - Yes (2247) EFO_0007616 1.44e-16 1.44 -16 1.302 oddsRatioConfidenceIntervalLower 1.386 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 1601.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IRS1 Arm fat free mass left (23125) EFO_0004995 1.24e-19 1.24 -19 "" -0.538 -0.347 -0.442 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 140.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PIEZO1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 7.16e-17 7.16 -17 "" 0.039 0.062 0.051 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 24319.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TMPRSS6 Haemoglobin concentration (30020) EFO_0004509 2.62e-31 2.62 -31 "" -0.239 -0.17 -0.205 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1822.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR ICD10 I25: Chronic ischemic heart disease EFO_0003777 9.14e-13 9.14 -13 3.379 oddsRatioConfidenceIntervalLower 4.719 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079982 387110 32706 61.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS3 Impedance of arm right (23109) HP_0000924 3.14e-16 3.14 -16 "" -0.142 -0.087 -0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 2184.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANGPTL8 HDL cholesterol (30760) EFO_0004612 8.18e-20 8.18 -20 "" 0.252 0.391 0.321 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 539.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Leg predicted mass right (23114) EFO_0004302 6.41e-12 6.41 -12 "" 0.082 0.148 0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 1200.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYR Ease of skin tanning - Get very tanned (1727) EFO_0007009 3.2e-15 3.2 -15 0.427 oddsRatioConfidenceIntervalLower 0.528 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 84.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PAM Hand grip strength right (47) EFO_0006941 2.52e-13 2.52 -13 "" -0.059 -0.034 -0.046 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 11445.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RHAG Reticulocyte percentage (30240) EFO_0010700 2.34e-48 2.34 -48 "" 0.835 1.094 0.964 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 204.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HAL Vitamin D (30890) EFO_0004631 3.73e-43 3.73 -43 "" 0.099 0.132 0.116 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 13151.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IL33 AsthmaCases vs AllergicDiseaseControls (RGC) MONDO_0004979 2.58e-15 2.58 -15 0.676 oddsRatioConfidenceIntervalLower 0.745 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081459 328314 47628 427.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC ICD10 D12.8: Benign neoplasm of rectum EFO_0002422 1.01e-12 1.01 -12 16.669 oddsRatioConfidenceIntervalLower 36.126 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079661 387930 4111 14.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC4A1 Mean sphered cell volume (30270) EFO_0004526 5.03e-26 5.03 -26 "" -1.841 -1.264 -1.552 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 38.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 4.6e-13 4.6 -13 2.083 oddsRatioConfidenceIntervalLower 2.54 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 125.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC45A2 Skin colour - Light olive (1717) EFO_0003784 1.35e-13 1.35 -13 0.243 oddsRatioConfidenceIntervalLower 0.354 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 21.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TFRC Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.0199999999999995e-25 6.02 -25 "" 0.827 1.215 1.021 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 87.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ALPL Alkaline phosphatase (30610) EFO_0004533 1.01e-11 1.01 -11 "" -2.19 -1.211 -1.7 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2109 2109 12.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SH2B3 Cholesterol (30690) EFO_0004574 1.94e-14 1.94 -14 "" -0.147 -0.087 -0.117 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 3611.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 5.96e-63 5.96 -63 13.388 oddsRatioConfidenceIntervalLower 18.137 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 88.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IRS1 Whole body water mass (23102) EFO_0009805 2.74e-23 2.74 -23 "" -0.571 -0.383 -0.477 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 140.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Pulse rate (4194) EFO_0004326 8.489999999999999e-23 8.49 -23 "" 0.236 0.354 0.295 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079160 173103 173103 1053.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TET2 Haemoglobin concentration (30020) EFO_0004509 9.84e-13 9.84 -13 "" -0.161 -0.092 -0.126 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1794.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APC Non cancer illness code self reported - rectal or colon adenoma polyps EFO_1000633 1.17e-15 1.17 -15 39.389 oddsRatioConfidenceIntervalLower 96.798 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077867 331754 1530 12.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Hand grip strength right (47) EFO_0006941 9.69e-13 9.69 -13 "" -0.08 -0.045 -0.062 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 5940.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TPM4 Mean platelet thrombocyte volume (30100) EFO_0004584 1.43e-12 1.43 -12 "" 0.674 1.19 0.932 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 41.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SMAD6 Sitting height (20015) EFO_0011011 1.66e-11 1.66 -11 "" 0.158 0.287 0.222 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 403.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PCSK9 Non cancer illness code self reported - high cholesterol HP_0003124 6.31e-15 6.31 -15 0.433 oddsRatioConfidenceIntervalLower 0.534 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 81.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SEMA4G Gamma glutamyltransferase (30730) EFO_0004532 2.98e-16 2.98 -16 "" -0.119 -0.073 -0.096 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 5462.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PCSK9 Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 1.85e-11 1.85 -11 0.467 oddsRatioConfidenceIntervalLower 0.583 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 72.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC4A1 Glycated haemoglobin HbA1c (30750) EFO_0004541 4.95e-14 4.95 -14 "" -0.25 -0.147 -0.199 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 1109.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACAN Standing height (50) EFO_0004339 2.96e-13 2.96 -13 "" -0.219 -0.126 -0.173 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 603.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FAM65C Platelet distribution width (30110) EFO_0007984 2.92e-14 2.92 -14 "" -0.304 -0.179 -0.242 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 814.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR Cholesterol (30690) EFO_0004574 1.76e-12 1.76 -12 "" 0.459 0.811 0.635 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 107.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" WNT1 Speed of sound through heel left (4103) EFO_0005654 1.39e-12 1.39 -12 "" -0.626 -0.355 -0.49 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079150 166283 166283 167.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB Triglycerides (30870) EFO_0004530 1.54e-76 1.54 -76 "" -0.285 -0.23 -0.258 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 4345.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GGT1 Gamma glutamyltransferase (30730) EFO_0004532 2.79e-12 2.79 -12 "" -1.338 -0.752 -1.045 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 34.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" TET2 High light scatter reticulocyte count (30300) EFO_0007986 4.02e-20 4.02 -20 "" 0.16 0.246 0.203 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1767.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Seated height (51) EFO_0011011 1.21e-22 1.21 -22 "" 0.14 0.209 0.174 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 1622.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Trunk predicted mass (23130) EFO_0004324 5.2400000000000005e-33 5.24 -33 "" 0.239 0.333 0.286 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 554.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ERCC4 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 5.67e-31 5.67 -31 1.318 oddsRatioConfidenceIntervalLower 1.381 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 2580.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" JAK2 Reticulocyte percentage (30240) EFO_0010700 4.34e-12 4.34 -12 "" 0.101 0.18 0.141 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 2137.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RNF186 Creatinine (30700) EFO_0004518 8.49e-12 8.49 -12 "" 0.087 0.157 0.122 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 1798.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TUBB1 Platelet distribution width (30110) EFO_0007984 7.27e-24 7.27 -24 "" 0.849 1.26 1.055 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 75.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" KLF1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.36e-90 2.36 -90 "" 0.901 1.096 0.999 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 348.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR ICD10 I25: Chronic ischemic heart disease EFO_0003777 1.12e-24 1.12 -24 2.208 oddsRatioConfidenceIntervalLower 2.568 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079982 387110 32706 263.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANK1 Reticulocyte count (30250) EFO_0007986 1.39e-11 1.39 -11 "" 0.402 0.731 0.567 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 123.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANGPTL3 LDL direct (30780) EFO_0004611 2.83e-32 2.83 -32 "" -0.437 -0.313 -0.375 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 862.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 6mm weak meridian left (5097) EFO_0004731 3.95e-15 3.95 -15 "" 0.282 0.47 0.376 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 349.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FLCN Non cancer illness code self reported - spontaneous pneumothorax recurrent pneumothorax HP_0002108 4.13e-15 4.13 -15 10.782 oddsRatioConfidenceIntervalLower 19.522 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077685 331754 1058 21.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC2A9 Urate (30880) EFO_0004531 4.3500000000000003e-26 4.35 -26 "" -0.922 -0.634 -0.778 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9833 9833 135.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" S1PR4 Eosinophil count (30150) EFO_0004842 1.65e-11 1.65 -11 "" -0.318 -0.175 -0.247 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 636.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Treatment or Medication Code - warfarin EFO_0007010 6.96e-14 6.96 -14 2.802 oddsRatioConfidenceIntervalLower 3.67 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078123 320758 4740 76.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HK1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.36e-13 1.36 -13 "" -0.248 -0.144 -0.196 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 1126.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SH2B3 Platelet crit (30090) EFO_0007985 3.13e-12 3.13 -12 "" 0.299 0.534 0.416 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 215.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A6 Total bilirubin (30840) EFO_0004570 2.12e-18 2.12 -18 "" 0.383 0.604 0.494 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 269.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APC ICD10 Z86.0: Personal history of in-situ and benign neoplasms and neoplasms of uncertain behavior EFO_0000616 1.79e-18 1.79 -18 16.465 oddsRatioConfidenceIntervalLower 30.794 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081355 387929 6926 22.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ALPL Alkaline phosphatase (30610) EFO_0004533 1.01e-11 1.01 -11 "" -2.19 -1.211 -1.7 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2109 2109 12.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Sitting height (20015) EFO_0011011 1.71e-16 1.71 -16 "" 0.119 0.194 0.157 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1214.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.11e-81 3.11 -81 "" -2.209 -1.797 -2.003 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Arm fat mass left (23124) EFO_0005409 2.69e-15 2.69 -15 "" 0.387 0.642 0.514 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078927 423512 423512 197.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Hip circumference (49) EFO_0005093 7.93e-15 7.93 -15 "" 0.384 0.643 0.513 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079253 430214 430214 202.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKHD1 Creatinine (30700) EFO_0004518 6.17e-13 6.17 -13 "" -0.095 -0.055 -0.075 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 5325.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MEPE Speed of sound through heel right (4122) EFO_0005654 1.2199999999999999e-23 1.22 -23 "" -0.417 -0.281 -0.349 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079156 166358 166358 653.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CCR3 Eosinophil count (30150) EFO_0004842 9.32e-14 9.32 -14 "" 0.137 0.236 0.187 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 1350.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TUBB1 Platelet crit (30090) EFO_0007985 1.37e-59 1.37 -59 "" -0.301 -0.236 -0.269 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 2825.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ATM ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 9.6e-15 9.6 -15 2.962 oddsRatioConfidenceIntervalLower 3.899 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 77.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 6mm strong meridian right (5133) EFO_0004731 8.09e-14 8.09 -14 "" 0.56 0.958 0.759 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079299 90887 90887 77.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CETP HDL cholesterol (30760) EFO_0004612 1.29e-19 1.29 -19 "" 0.679 1.053 0.866 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 77.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Leg fat free mass left (23117) EFO_0004995 2.63e-13 2.63 -13 "" -0.107 -0.062 -0.084 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 2642.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 Mothers age at death (3526) EFO_0007796 3.99e-12 3.99 -12 "" -0.191 -0.107 -0.149 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 1988.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ASXL1 ICD10 C92: Myeloid leukemia EFO_0002427 2.03e-14 2.03 -14 15.627 oddsRatioConfidenceIntervalLower 31.61 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 16.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SPSB3 Arm predicted mass right (23122) EFO_0004302 7.55e-12 7.55 -12 "" -0.061 -0.034 -0.048 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 6512.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR Cholesterol (30690) EFO_0004574 1.3099999999999998e-55 1.31 -55 "" 0.304 0.39 0.347 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 1787.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GNB1 Mean corpuscular volume (30040) EFO_0004526 4.42e-12 4.42 -12 "" -0.45 -0.252 -0.351 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 304.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Neutrophil count (30140) EFO_0004833 8.74e-19 8.74 -19 "" -0.242 -0.154 -0.198 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 1777.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A4 Total bilirubin (30840) EFO_0004570 4.0400000000000004e-35 4.04 -35 "" 0.25 0.344 0.297 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1488.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MEN1 ICD10 E21: Hyperparathyroidism and other disorders of parathyroid gland EFO_0008506 5.86e-14 5.86 -14 22.513 oddsRatioConfidenceIntervalLower 50.737 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079753 387625 1168 13.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TMPRSS6 Haematocrit percentage (30030) EFO_0004348 1.59e-19 1.59 -19 "" -0.199 -0.128 -0.164 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1822.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PADI3 Hair colour natural before greying - Dark brown (1747) EFO_0007822 8.98e-13 8.98 -13 0.888 oddsRatioConfidenceIntervalLower 0.917 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 6885.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 1.92e-17 1.92 -17 "" -2.499 -1.562 -2.03 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9690 9690 19.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MSH6 Type of Cancer: Malignant neoplasm of endometrium (40006) MONDO_0011962 1.05e-15 1.05 -15 8.334 oddsRatioConfidenceIntervalLower 13.992 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079109 41005 1536 30.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 2.24e-19 2.24 -19 5.988 oddsRatioConfidenceIntervalLower 8.842 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 44.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IQGAP2 Platelet count (30080) EFO_0004309 1.9e-34 1.9 -34 "" -0.328 -0.237 -0.283 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1431.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADCK3 Mean reticulocyte volume (30260) EFO_0010701 1.75e-15 1.75 -15 "" -0.205 -0.124 -0.164 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 2002.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CXCR4 White blood cell leukocyte count (30000) EFO_0004308 9.080000000000001e-21 9.08 -21 "" 0.374 0.573 0.474 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 345.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CALR Immature reticulocyte fraction (30280) EFO_0010700 5.29e-13 5.29 -13 "" 0.604 1.055 0.83 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 69.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" G6PC2 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.5899999999999998e-94 1.59 -94 "" -0.184 -0.152 -0.168 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 11862.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ALB Total protein (30860) EFO_0004536 8.28e-38 8.28 -38 "" -1.208 -0.889 -1.049 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 134.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" WNT1 Heel Broadband ultrasound attenuation direct entry (3144) EFO_0004514 1.64e-14 1.64 -14 "" -0.562 -0.333 -0.447 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079049 246304 246304 227.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GFPT2 Trunk predicted mass (23130) EFO_0004324 1.59e-11 1.59 -11 "" -0.091 -0.05 -0.07 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 2921.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK Glycated haemoglobin HbA1c (30750) EFO_0004541 1.43e-28 1.43 -28 "" 1.078 1.541 1.309 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 55.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS17 Impedance of arm left (23110) HP_0000924 9.36e-18 9.36 -18 "" -0.14 -0.088 -0.114 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 2462.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD2 ICD10 Q61: Cystic kidney disease EFO_0008615 8.32e-30 8.32 -30 162.033 oddsRatioConfidenceIntervalLower 390.398 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 16.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" TNRC6B Hand grip strength left (46) EFO_0006941 3.54e-12 3.54 -12 "" -0.599 -0.336 -0.467 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 99.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR ICD10 Z82.4: Family history of ischemic heart disease and other diseases of the circulatory system EFO_0000493 2.09e-11 2.09 -11 1.598 oddsRatioConfidenceIntervalLower 1.833 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081337 340245 43852 284.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK Non cancer illness code self reported - diabetes EFO_0000400 2.27e-12 2.27 -12 16.455 oddsRatioConfidenceIntervalLower 35.976 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077722 331754 17927 16.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GCK Non cancer illness code self reported - type 2 diabetes/ICD10 E11 MONDO_0005148 8.91e-14 8.91 -14 8.305 oddsRatioConfidenceIntervalLower 14.488 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077725 329052 3203 23.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS17 Impedance of arm left (23110) HP_0000924 1.39e-16 1.39 -16 "" -0.106 -0.065 -0.086 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 4065.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A10 Total bilirubin (30840) EFO_0004570 4.83e-17 4.83 -17 "" 0.337 0.543 0.44 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9811 9811 354.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LPL Apolipoprotein A (30630) EFO_0004732 6.16e-12 6.16 -12 "" -0.657 -0.365 -0.511 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 130.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" COL1A1 Non cancer illness code self reported - bone disorder/ICD10 M85 EFO_0004260 1.2e-12 1.2 -12 67.485 oddsRatioConfidenceIntervalLower 215.665 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077770 329052 841 9.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC34A3 Cystatin C (30720) EFO_0004617 8.9e-40 8.9 -40 "" 0.19 0.257 0.223 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 2362.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" DENND2C Platelet distribution width (30110) EFO_0007984 1.6899999999999997e-67 1.69 -67 "" -0.152 -0.121 -0.137 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 13496.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 1.84e-19 1.84 -19 9.456 oddsRatioConfidenceIntervalLower 15.404 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 31.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Leg fat free mass left (23117) EFO_0004995 2.8e-21 2.8 -21 "" 0.188 0.286 0.237 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 554.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TFRC Mean corpuscular haemoglobin concentration (30060) EFO_0004528 6.27e-14 6.27 -14 "" -1.042 -0.61 -0.826 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 76.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Pulse rate automated reading (102) EFO_0004326 1.5e-45 1.5 -45 "" 0.181 0.239 0.21 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 4262.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKLR Red blood cell erythrocyte count (30010) EFO_0004305 5e-21 5.0 -21 "" -0.119 -0.078 -0.098 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 5721.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB High light scatter reticulocyte count (30300) EFO_0007986 1.4700000000000002e-31 1.47 -31 "" 0.92 1.291 1.106 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 96.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC ICD10 K31.7: Polyp of stomach and duodenum MONDO_0008277 1.7e-15 1.7 -15 16.091 oddsRatioConfidenceIntervalLower 31.887 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080210 387782 6198 18.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANKRD12 Touchscreen duration (630) EFO_0000689 1.1e-15 1.1 -15 "" 0.3 0.494 0.397 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079491 430751 430751 318.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TCF25 Hair colour natural before greying - Dark brown (1747) EFO_0007822 1.25e-11 1.25 -11 1.248 oddsRatioConfidenceIntervalLower 1.331 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 1921.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Platelet count (30080) EFO_0004309 5.41e-12 5.41 -12 "" -0.29 -0.161 -0.226 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 709.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" PIEZO1 Sitting height (20015) EFO_0011011 3.29e-17 3.29 -17 "" -0.228 -0.142 -0.185 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 911.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CD36 Apolipoprotein A (30630) EFO_0004732 2.26e-21 2.26 -21 "" 0.153 0.233 0.193 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1745.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PAPPA2 Leg fat free mass left (23117) EFO_0004995 1.68e-11 1.68 -11 "" -0.114 -0.063 -0.089 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 2008.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MSH6 ICD10 C54: Malignant neoplasm of corpus uteri EFO_0007532 9.19e-29 9.19 -29 21.079 oddsRatioConfidenceIntervalLower 36.06 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079608 211679 1515 31.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 1.04e-103 1.04 -103 "" -2.306 -1.922 -2.114 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CXCL2 Neutrophil percentage (30200) EFO_0007990 2.43e-14 2.43 -14 "" -0.899 -0.531 -0.715 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 102.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 2.01e-16 2.01 -16 "" -3.074 -1.891 -2.482 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8409 8409 13.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 3.62e-14 3.62 -14 7.643 oddsRatioConfidenceIntervalLower 12.936 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 28.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LCORL Basal metabolic rate (23105) EFO_0007777 2.22e-14 2.22 -14 "" 0.269 0.455 0.362 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 157.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" WNT1 Heel bone mineral density BMD T score automated left (4106) EFO_0009270 4.6e-13 4.6 -13 "" -0.629 -0.361 -0.495 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079153 166283 166283 167.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTB Reticulocyte percentage (30240) EFO_0010700 4.02e-16 4.02 -16 "" 0.856 1.399 1.128 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 46.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" SMAD6 6mm weak meridian left (5097) EFO_0004731 3.95e-15 3.95 -15 "" 0.282 0.47 0.376 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 349.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 ICD10 D36: Benign neoplasm of other and unspecified sites EFO_0002422 2.95e-33 2.95 -33 93.431 oddsRatioConfidenceIntervalLower 195.849 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079695 387660 899 21.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" MYBPC3 ICD10 I42: Cardiomyopathy EFO_0000318 3.56e-13 3.56 -13 78.655 oddsRatioConfidenceIntervalLower 255.106 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 8.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" PDE3B Leg predicted mass right (23114) EFO_0004302 2.9e-14 2.9 -14 "" 0.072 0.122 0.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 2067.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS17 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 2.17e-12 2.17 -12 "" -0.119 -0.067 -0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 818.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PCSK9 Cholesterol (30690) EFO_0004574 4.27e-146 4.27 -146 "" -0.74 -0.636 -0.688 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 1188.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLG ICD10 J45.9: Other and unspecified asthma MONDO_0004979 3.84e-12 3.84 -12 1.225 oddsRatioConfidenceIntervalLower 1.298 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080140 385754 38114 1461.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 ICD10 C92: Myeloid leukemia EFO_0002427 4.540000000000001e-21 4.54 -21 9.853 oddsRatioConfidenceIntervalLower 15.86 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 32.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" THBS4 6mm weak meridian right (5098) EFO_0004731 1.4200000000000002e-21 1.42 -21 "" -0.377 -0.248 -0.312 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 755.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CAD Mean sphered cell volume (30270) EFO_0004526 1.48e-45 1.48 -45 "" 0.769 1.016 0.893 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 208.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 1.25e-11 1.25 -11 "" -2.233 -1.231 -1.732 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2106 2106 16.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS3 Impedance of whole body (23106) HP_0000924 6.91e-35 6.91 -35 "" -0.136 -0.099 -0.117 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 5509.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPHK1 Monocyte percentage (30190) EFO_0007989 1.11e-12 1.11 -12 "" -0.102 -0.058 -0.08 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 6458.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RHAG Mean sphered cell volume (30270) EFO_0004526 1.0600000000000001e-56 1.06 -56 "" -0.77 -0.601 -0.686 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 450.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TSHR ICD10 E03.9: Hypothyroidism, unspecified EFO_0004705 2.5299999999999997e-23 2.53 -23 2.428 oddsRatioConfidenceIntervalLower 2.891 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079721 385358 19694 187.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CGNL1 Cystatin C (30720) EFO_0004617 6.56e-12 6.56 -12 "" 0.074 0.133 0.104 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 2990.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 Type of Cancer: Malignant neoplasm of breast (40006) EFO_0003869 5.26e-15 5.26 -15 1.849 oddsRatioConfidenceIntervalLower 2.157 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079108 41005 12472 318.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Whole body water mass (23102) EFO_0009805 1.34e-12 1.34 -12 "" 0.222 0.392 0.307 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 170.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTA1 Mean sphered cell volume (30270) EFO_0004526 1.18e-28 1.18 -28 "" -0.692 -0.484 -0.588 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 299.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANGPTL3 Triglycerides (30870) EFO_0004530 1.4e-14 1.4 -14 "" -0.9 -0.534 -0.717 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 93.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 DD Cancer - Yes (2453) EFO_0000311 4.87e-25 4.87 -25 3.091 oddsRatioConfidenceIntervalLower 3.828 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 138.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYR Ease of skin tanning - Never tan only burn (1727) EFO_0007009 7.75e-26 7.75 -26 1.386 oddsRatioConfidenceIntervalLower 1.473 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 1601.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Standing height (50) EFO_0004339 1.31e-44 1.31 -44 "" 0.173 0.229 0.201 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1621.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APC ICD10 D13: Benign neoplasm of other and ill-defined parts of digestive system EFO_0002422 2.3300000000000002e-29 2.33 -29 71.302 oddsRatioConfidenceIntervalLower 149.957 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079664 387696 1532 20.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GP1BB Platelet count (30080) EFO_0004309 2.85e-44 2.85 -44 "" -1.92 -1.447 -1.683 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 52.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ITGA2B Mean platelet thrombocyte volume (30100) EFO_0004584 2.02e-13 2.02 -13 "" 0.23 0.397 0.314 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 393.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NOTCH1 Lymphocyte percentage (30180) EFO_0007993 4.6800000000000005e-27 4.68 -27 "" 1.194 1.725 1.46 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 47.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYR Ease of skin tanning - Get very tanned (1727) EFO_0007009 1.73e-38 1.73 -38 0.48 oddsRatioConfidenceIntervalLower 0.536 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 328.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PCSK9 LDL direct (30780) EFO_0004611 1.31e-72 1.31 -72 "" -1.124 -0.903 -1.013 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 275.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" DDR2 Standing height (50) EFO_0004339 1.28e-12 1.28 -12 "" -0.718 -0.407 -0.563 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 54.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LCORL Arm predicted mass left (23126) EFO_0004302 5.75e-13 5.75 -13 "" 0.256 0.447 0.351 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 138.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SPTA1 Mean reticulocyte volume (30260) EFO_0010701 1.92e-35 1.92 -35 "" -0.767 -0.558 -0.663 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 299.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" KDM5B Hand grip strength left (46) EFO_0006941 2.21e-15 2.21 -15 "" -0.414 -0.25 -0.332 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 256.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC12A9 Hair colour natural before greying - Blonde (1747) EFO_0007822 8.92e-41 8.92 -41 2.261 oddsRatioConfidenceIntervalLower 2.548 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 454.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.43e-128 2.43 -128 "" -2.53 -2.149 -2.339 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 98.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPTA1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.74e-16 2.74 -16 "" 0.31 0.505 0.407 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 373.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OBSCN Impedance of arm right (23109) HP_0000924 8.23e-14 8.23 -14 "" -0.031 -0.018 -0.025 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 44586.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PLIN1 Triglycerides (30870) EFO_0004530 8.08e-14 8.08 -14 "" -0.293 -0.171 -0.232 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 834.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" AMPD3 High light scatter reticulocyte count (30300) EFO_0007986 3.94e-17 3.94 -17 "" -0.089 -0.056 -0.072 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 11788.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" POLE Mean corpuscular volume (30040) EFO_0004526 2.13e-32 2.13 -32 "" 0.142 0.198 0.17 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 3802.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LPL HDL cholesterol (30760) EFO_0004612 5.45e-38 5.45 -38 "" -0.477 -0.351 -0.414 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 658.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Cystatin C (30720) EFO_0004617 5.21e-17 5.21 -17 "" 0.126 0.202 0.164 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 1778.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IRS1 Arm predicted mass left (23126) EFO_0004302 6.8e-20 6.8 -20 "" -0.538 -0.348 -0.443 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 140.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NOTCH1 Lymphocyte percentage (30180) EFO_0007993 4.6800000000000005e-27 4.68 -27 "" 1.194 1.725 1.46 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 47.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" COL4A4 Microalbumin in urine (30500) EFO_0010967 7.46e-57 7.46 -57 "" 0.636 0.815 0.726 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 463.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Weight (21002) EFO_0004338 2.17e-16 2.17 -16 "" 0.358 0.582 0.47 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 202.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CSF2RB Eosinophil count (30150) EFO_0004842 8.56e-38 8.56 -38 "" -0.552 -0.406 -0.479 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 616.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC ICD10 K91.4: Colostomy and enterostomy malfunction (K91.4) EFO_0000405 2.5e-14 2.5 -14 63.128 oddsRatioConfidenceIntervalLower 183.296 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080316 387930 635 9.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" EIF2AK1 High light scatter reticulocyte count (30300) EFO_0007986 3.82e-15 3.82 -15 "" 0.172 0.286 0.229 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1015.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHEK2 Lymphocyte count (30120) EFO_0004587 9.120000000000001e-21 9.12 -21 "" 0.132 0.202 0.167 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 2752.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EPB41 Glycated haemoglobin HbA1c (30750) EFO_0004541 3.1500000000000004e-27 3.15 -27 "" -0.843 -0.584 -0.714 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 176.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CAD Mean corpuscular haemoglobin (30050) EFO_0004527 2.17e-16 2.17 -16 "" 0.428 0.696 0.562 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 166.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CTSD Aspartate aminotransferase (30650) EFO_0004736 1.76e-11 1.76 -11 "" 0.151 0.275 0.213 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 825.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 1.92e-17 1.92 -17 "" -2.499 -1.562 -2.03 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9690 9690 19.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RRAD Pulse rate automated reading (102) EFO_0004326 4.46e-13 4.46 -13 "" 0.165 0.287 0.226 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 954.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TFR2 Haematocrit percentage (30030) EFO_0004348 2.02e-11 2.02 -11 "" 0.063 0.115 0.089 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 3379.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PRPH2 ICD10 H35: Other retinal disorders EFO_0003839 8.85e-12 8.85 -12 7.675 oddsRatioConfidenceIntervalLower 13.782 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079902 384428 5808 21.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Arm fat free mass right (23121) EFO_0004995 4.02e-12 4.02 -12 "" 0.199 0.355 0.277 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 197.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK Metformin Med (RGC) EFO_0007010 6.48e-14 6.48 -14 7.554 oddsRatioConfidenceIntervalLower 12.815 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081499 320758 12065 27.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ZFAT Whole body fat free mass (23101) EFO_0004995 1e-11 10.0 -12 "" 0.443 0.802 0.623 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 38.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" PAPPA2 Whole body fat free mass (23101) EFO_0004995 8.5e-12 8.5 -12 "" -0.295 -0.163 -0.229 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 285.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APC Non cancer illness code self reported - rectal or colon adenoma polyps EFO_1000633 1.17e-15 1.17 -15 39.389 oddsRatioConfidenceIntervalLower 96.798 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077867 331754 1530 12.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANGPTL3 LDL direct (30780) EFO_0004611 2.83e-32 2.83 -32 "" -0.437 -0.313 -0.375 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 862.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYRP1 Hair colour natural before greying - Blonde (1747) EFO_0007822 6.04e-63 6.04 -63 3.196 oddsRatioConfidenceIntervalLower 3.661 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 388.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC4A1 Total bilirubin (30840) EFO_0004570 1.58e-18 1.58 -18 "" 0.287 0.452 0.37 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 350.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 1.29e-21 1.29 -21 2.849 oddsRatioConfidenceIntervalLower 3.532 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 122.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NOTCH1 White blood cell leukocyte count (30000) EFO_0004308 1.2500000000000001e-22 1.25 -22 "" 1.073 1.61 1.341 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 47.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MIP Non cancer illness code self reported - cataract MONDO_0005129 7.01e-13 7.01 -13 5.992 oddsRatioConfidenceIntervalLower 9.769 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077756 331754 8629 29.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SCARB1 Cholesterol (30690) EFO_0004574 2.25e-22 2.25 -22 "" 0.15 0.225 0.187 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 2271.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SVEP1 Mean platelet thrombocyte volume (30100) EFO_0004584 7.21e-14 7.21 -14 "" -0.45 -0.263 -0.356 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 312.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" STC2 Leg predicted mass left (23118) EFO_0004302 1.39e-18 1.39 -18 "" 0.08 0.127 0.103 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 2488.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TFR2 Red blood cell erythrocyte distribution width (30070) EFO_0009188 7.67e-18 7.67 -18 "" -0.168 -0.106 -0.137 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3379.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MEPE Heel bone mineral density BMD (3148) EFO_0009270 1.42e-34 1.42 -34 "" -0.376 -0.273 -0.325 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 1108.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Leg fat free mass left (23117) EFO_0004995 2.63e-13 2.63 -13 "" -0.107 -0.062 -0.084 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 2642.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TSHR ICD10 E03: Other hypothyroidism EFO_0004705 1.82e-14 1.82 -14 2.978 oddsRatioConfidenceIntervalLower 3.937 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079722 383065 21010 79.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FCGRT Albumin (30600) EFO_0004535 1.14e-13 1.14 -13 "" -2.456 -1.43 -1.943 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 13.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" MC1R Hair colour natural before greying - Dark brown (1747) EFO_0007822 7.71e-14 7.71 -14 0.432 oddsRatioConfidenceIntervalLower 0.539 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 121.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IRS1 Trunk fat free mass (23129) EFO_0004995 1.9e-25 1.9 -25 "" -0.593 -0.405 -0.499 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 140.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RTEL1 Mean corpuscular volume (30040) EFO_0004526 5e-18 5.0 -18 "" 0.32 0.507 0.414 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 339.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Basal metabolic rate (23105) EFO_0007777 9.38e-18 9.38 -18 "" -0.122 -0.077 -0.1 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 2643.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ACO1 Red blood cell erythrocyte count (30010) EFO_0004305 3.26e-17 3.26 -17 "" 0.253 0.405 0.329 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 403.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD1 ICD10 D63.165.8: Anemia in chronic kidney disease EFO_0004272 1.6e-12 1.6 -12 20.426 oddsRatioConfidenceIntervalLower 47.166 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079710 387885 936 12.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLG Non cancer illness code self reported - asthma MONDO_0004979 1.08e-16 1.08 -16 1.244 oddsRatioConfidenceIntervalLower 1.31 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077671 331754 50973 1976.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ATR Mean corpuscular haemoglobin (30050) EFO_0004527 1.41e-15 1.41 -15 "" -0.144 -0.087 -0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 3756.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PLD1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.73e-131 1.73 -131 "" 0.209 0.245 0.227 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 10087.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 1.25e-11 1.25 -11 "" -2.233 -1.231 -1.732 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2106 2106 16.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANK1 Mean sphered cell volume (30270) EFO_0004526 3.1e-22 3.1 -22 "" -1.196 -0.794 -0.995 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 79.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" UGT1A1 Total bilirubin (30840) EFO_0004570 1.2300000000000001e-36 1.23 -36 "" 0.708 0.968 0.838 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 195.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR ICD10 Z95: Presence of cardiac and vascular implants and grafts EFO_0002571 2.34e-12 2.34 -12 2.06 oddsRatioConfidenceIntervalLower 2.522 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081425 387795 16113 132.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CA1 Reticulocyte count (30250) EFO_0007986 5.46e-13 5.46 -13 "" 0.203 0.354 0.278 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 582.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPATA33 Hair colour natural before greying - Red (1747) EFO_0007822 5.88e-41 5.88 -41 0.221 oddsRatioConfidenceIntervalLower 0.275 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 44.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTA1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 4.72e-13 4.72 -13 "" 0.291 0.507 0.399 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 304.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SMAD6 3mm strong meridian right (5132) EFO_0004731 5.36e-19 5.36 -19 "" 0.6 0.939 0.77 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079298 103540 103540 108.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" B4GALNT3 Alkaline phosphatase (30610) EFO_0004533 4.77e-39 4.77 -39 "" 0.161 0.217 0.189 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 3739.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC12A9 Hair colour natural before greying - Blonde (1747) EFO_0007822 1.8899999999999997e-23 1.89 -23 2.768 oddsRatioConfidenceIntervalLower 3.381 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 172.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TFRC Mean corpuscular haemoglobin (30050) EFO_0004527 3.17e-15 3.17 -15 "" -0.27 -0.163 -0.216 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1038.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ENPP1 Phosphate (30810) EFO_0010968 4.09e-27 4.09 -27 "" -0.434 -0.301 -0.367 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 759.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PAPPA2 Basal metabolic rate (23105) EFO_0007777 1.59e-12 1.59 -12 "" -0.134 -0.076 -0.105 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 1621.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOB Triglycerides (30870) EFO_0004530 2.07e-106 2.07 -106 "" -0.434 -0.363 -0.399 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 2467.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RASAL3 Lymphocyte count (30120) EFO_0004587 1.34e-12 1.34 -12 "" -0.12 -0.068 -0.094 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 5065.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TUBB1 Platelet distribution width (30110) EFO_0007984 2.2300000000000002e-307 2.23 -307 "" 0.794 0.861 0.828 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 2825.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ABCC2 Total bilirubin (30840) EFO_0004570 2.07e-17 2.07 -17 "" 0.064 0.103 0.083 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 6540.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TSHR Non cancer illness code self reported - hypothyroidism myxoedema EFO_0004705 6.82e-12 6.82 -12 3.092 oddsRatioConfidenceIntervalLower 4.269 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 61.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CAD Mean reticulocyte volume (30260) EFO_0010701 3.1600000000000003e-27 3.16 -27 "" 0.13 0.188 0.159 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 3898.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYR Ease of skin tanning - Never tan only burn (1727) EFO_0007009 2.91e-19 2.91 -19 2.607 oddsRatioConfidenceIntervalLower 3.215 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 162.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" JAK2 Platelet crit (30090) EFO_0007985 1.4700000000000002e-27 1.47 -27 "" 0.622 0.895 0.758 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 159.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD2 ICD10 Q61: Cystic kidney disease EFO_0008615 1.95e-69 1.95 -69 380.586 oddsRatioConfidenceIntervalLower 737.228 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 34.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" INSC Speed of sound through heel (3146) EFO_0005654 7.41e-12 7.41 -12 "" 0.051 0.091 0.071 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 7653.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 N18: Chronic kidney disease (CKD) EFO_0003884 2.5800000000000002e-47 2.58 -47 17.082 oddsRatioConfidenceIntervalLower 25.104 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080584 382843 10144 62.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" THBS4 6mm weak meridian right (5098) EFO_0004731 4.82e-12 4.82 -12 "" -0.22 -0.123 -0.171 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 1318.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 1.5900000000000002e-21 1.59 -21 "" 0.091 0.138 0.114 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 990.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MIP Eye problems disorders - Cataract (6148) MONDO_0005129 5.5e-14 5.5 -14 8.273 oddsRatioConfidenceIntervalLower 14.35 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079433 37798 18309 63.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" INSC Heel quantitative ultrasound index QUI direct entry left (4104) EFO_0004514 9.93e-12 9.93 -12 "" 0.061 0.11 0.085 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079151 166283 166283 5117.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Pulse rate automated reading (102) EFO_0004326 5.37e-34 5.37 -34 "" 0.131 0.182 0.157 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 5669.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EGLN1 Red blood cell erythrocyte count (30010) EFO_0004305 9.16e-13 9.16 -13 "" 0.441 0.775 0.608 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 85.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LRP2 Creatinine (30700) EFO_0004518 1.82e-16 1.82 -16 "" -0.73 -0.449 -0.589 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 112.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" ATM ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 4.22e-16 4.22 -16 2.054 oddsRatioConfidenceIntervalLower 2.444 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 184.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PEAR1 Mean platelet thrombocyte volume (30100) EFO_0004584 3.27e-16 3.27 -16 "" -0.235 -0.144 -0.19 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1360.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SPTA1 Reticulocyte count (30250) EFO_0007986 5.49e-50 5.49 -50 "" 0.631 0.823 0.727 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 365.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RHAG Mean sphered cell volume (30270) EFO_0004526 1.29e-43 1.29 -43 "" -1.017 -0.765 -0.891 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 203.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A8 Total bilirubin (30840) EFO_0004570 5.25e-49 5.25 -49 "" 0.335 0.438 0.386 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1245.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GNB1 Eosinophil percentage (30210) EFO_0007991 9.74e-20 9.74 -20 "" -0.593 -0.383 -0.488 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 304.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I50.9: Heart failure, unspecified EFO_0003144 3.35e-14 3.35 -14 3.64 oddsRatioConfidenceIntervalLower 5.083 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080022 387930 2407 52.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PIEZO1 ICD10 I83: Varicose veins of lower extremities HP_0002619 1.48e-13 1.48 -13 1.482 oddsRatioConfidenceIntervalLower 1.645 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080066 380908 15125 434.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 3.22e-26 3.22 -26 2.016 oddsRatioConfidenceIntervalLower 2.295 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 315.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CALR Haematocrit percentage (30030) EFO_0004348 1.88e-13 1.88 -13 "" -0.853 -0.494 -0.673 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 71.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 Mothers age at death (3526) EFO_0007796 4.29e-29 4.29 -29 "" -0.389 -0.273 -0.331 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 1047.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Mean platelet thrombocyte volume (30100) EFO_0004584 5.08e-17 5.08 -17 "" 0.138 0.223 0.18 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1532.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SMAD6 Ankle spacing width right (4119) EFO_0004324 1.59e-11 1.59 -11 "" 0.206 0.376 0.291 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079154 166358 166358 359.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 Illnesses of mother - None of the above group 2 (20110) EFO_0000493 2.21e-14 2.21 -14 0.651 oddsRatioConfidenceIntervalLower 0.726 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078283 423686 308506 920.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Leg fat free mass right (23113) EFO_0004995 2.68e-14 2.68 -14 "" 0.206 0.349 0.278 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 257.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 ICD10 Z99.2: Dependence on renal dialysis EFO_0010690 5.69e-29 5.69 -29 7.712 oddsRatioConfidenceIntervalLower 11.037 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081442 385553 1868 54.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GCKR Triglycerides (30870) EFO_0004530 1.49e-12 1.49 -12 "" 0.069 0.122 0.096 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 4464.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" POR Triglycerides (30870) EFO_0004530 2.84e-12 2.84 -12 "" -0.085 -0.048 -0.066 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 9131.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB Non cancer illness code self reported - high cholesterol HP_0003124 1.02e-22 1.02 -22 0.194 oddsRatioConfidenceIntervalLower 0.269 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 23.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Trunk predicted mass (23130) EFO_0004324 3.39e-21 3.39 -21 "" 0.122 0.185 0.153 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 1200.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HNF1A OralDiabetes Med (RGC) EFO_0007010 6.15e-12 6.15 -12 7.884 oddsRatioConfidenceIntervalLower 14.201 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081503 320758 13132 22.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Arm fat free mass right (23121) EFO_0004995 4.02e-12 4.02 -12 "" 0.199 0.355 0.277 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 197.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MYO9B Mean platelet thrombocyte volume (30100) EFO_0004584 2.64e-12 2.64 -12 "" 0.162 0.289 0.226 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 684.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SH2B3 Platelet crit (30090) EFO_0007985 2.01e-16 2.01 -16 "" 0.182 0.296 0.239 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 908.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NOTCH1 Type of Cancer: Lymphoid leukemia (40006) EFO_0004289 5.93e-25 5.93 -25 361.99 oddsRatioConfidenceIntervalLower 1108.67 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079125 74230 699 14.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RTEL1 Mean sphered cell volume (30270) EFO_0004526 9.54e-21 9.54 -21 "" 0.162 0.247 0.204 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 1725.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOB LDL direct (30780) EFO_0004611 2.2300000000000002e-307 2.23 -307 "" -1.778 -1.64 -1.709 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 699.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GMPR Mean corpuscular haemoglobin (30050) EFO_0004527 1.44e-16 1.44 -16 "" 0.181 0.293 0.237 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 982.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ABCA1 Cholesterol (30690) EFO_0004574 2.13e-59 2.13 -59 "" -0.346 -0.271 -0.309 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 2341.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CSF2RB Eosinophil count (30150) EFO_0004842 8.56e-38 8.56 -38 "" -0.552 -0.406 -0.479 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 616.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MEN1 ICD10 E21: Hyperparathyroidism and other disorders of parathyroid gland EFO_0008506 4.9e-12 4.9 -12 51.663 oddsRatioConfidenceIntervalLower 158.209 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079753 387625 1168 8.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" STC2 Seated height (51) EFO_0011011 2.26e-21 2.26 -21 "" 0.107 0.163 0.135 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 2532.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Arm predicted mass left (23126) EFO_0004302 1.24e-20 1.24 -20 "" -0.126 -0.082 -0.104 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 2642.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PKD1 ICD10 I12.0: Hypertensive chronic kidney disease with stage 5 chronic kidney disease or end stage renal disease MONDO_0024633 1.62e-26 1.62 -26 33.786 oddsRatioConfidenceIntervalLower 64.55 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079963 387930 1504 23.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" KLF1 Mean sphered cell volume (30270) EFO_0004526 9.05e-29 9.05 -29 "" -0.643 -0.45 -0.547 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 343.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC ICD10 Z83.7: Family history of diseases of the digestive system EFO_0000493 8.16e-20 8.16 -20 54.591 oddsRatioConfidenceIntervalLower 129.067 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081342 387433 947 14.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR ICD10 I20.9: Angina pectoris, unspecified EFO_0003913 6e-13 6.0 -13 2.003 oddsRatioConfidenceIntervalLower 2.42 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079967 387883 18859 149.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Arm predicted mass right (23122) EFO_0004302 2.59e-20 2.59 -20 "" 0.117 0.18 0.149 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 Type of Cancer: Malignant neoplasm of breast (40006) EFO_0003869 8.170000000000001e-21 8.17 -21 3.325 oddsRatioConfidenceIntervalLower 4.277 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079108 41005 12472 153.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RGS11 Mean corpuscular volume (30040) EFO_0004526 2.01e-12 2.01 -12 "" -0.704 -0.397 -0.551 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 224.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ITGB3 Platelet count (30080) EFO_0004309 3.0599999999999998e-24 3.06 -24 "" -0.214 -0.145 -0.179 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 2455.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GOT1 Aspartate aminotransferase (30650) EFO_0004736 9.030000000000001e-210 9.03 -210 "" -1.903 -1.676 -1.79 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 252.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 3.2200000000000005e-64 3.22 -64 "" 1.638 2.067 1.853 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" POLE Mean sphered cell volume (30270) EFO_0004526 3.5599999999999996e-23 3.56 -23 "" 0.101 0.151 0.126 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 5127.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" STAB2 IGF 1 (30770) EFO_0004627 2.74e-14 2.74 -14 "" -0.118 -0.069 -0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 5384.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 ICD10 C92: Myeloid leukemia EFO_0002427 1.56e-11 1.56 -11 9.968 oddsRatioConfidenceIntervalLower 19.45 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 16.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TET2 ICD10 C92: Myeloid leukemia EFO_0002427 5.41e-16 5.41 -16 15.496 oddsRatioConfidenceIntervalLower 30.07 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 18.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" OR51V1 Red blood cell erythrocyte count (30010) EFO_0004305 5.73e-16 5.73 -16 "" 0.687 1.126 0.906 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 75.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS17 Forced vital capacity FVC (3062) EFO_0004312 2.96e-13 2.96 -13 "" -0.101 -0.058 -0.079 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 3829.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Leg fat free mass left (23117) EFO_0004995 2.88e-31 2.88 -31 "" 0.186 0.261 0.224 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Forced vital capacity FVC Best measure (20151) EFO_0004312 8.7e-15 8.7 -15 "" -0.144 -0.086 -0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078317 322002 322002 2001.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" DDR2 Standing height (50) EFO_0004339 4.61e-13 4.61 -13 "" -0.178 -0.102 -0.14 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 913.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ASXL1 Mean corpuscular haemoglobin (30050) EFO_0004527 6.34e-12 6.34 -12 "" -0.228 -0.127 -0.177 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1167.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" DOCK8 Mean platelet thrombocyte volume (30100) EFO_0004584 2.86e-24 2.86 -24 "" -0.079 -0.053 -0.066 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 17347.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PTPRJ Mean platelet thrombocyte volume (30100) EFO_0004584 7.23e-25 7.23 -25 "" -0.581 -0.395 -0.488 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 317.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MED17 Mean corpuscular volume (30040) EFO_0004526 8.03e-15 8.03 -15 "" -0.549 -0.328 -0.439 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 243.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" WNT1 Non cancer illness code self reported - osteoporosis EFO_0003882 1.47e-11 1.47 -11 5.102 oddsRatioConfidenceIntervalLower 8.188 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077779 331754 7730 30.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FLT3 Monocyte count (30130) EFO_0005091 2.25e-14 2.25 -14 "" 0.258 0.436 0.347 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 388.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RBL1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 7.99e-15 7.99 -15 "" 0.16 0.267 0.214 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1122.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Leg fat free mass right (23113) EFO_0004995 1.56e-12 1.56 -12 "" -0.07 -0.039 -0.055 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 5845.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MYOC Eye problems disorders - Glaucoma (6148) EFO_0000516 3.22e-14 3.22 -14 2.878 oddsRatioConfidenceIntervalLower 3.782 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079431 37798 6848 101.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB Vitamin D (30890) EFO_0004631 3.24e-52 3.24 -52 "" 0.48 0.622 0.551 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 687.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IQGAP2 Albumin (30600) EFO_0004535 9.29e-17 9.29 -17 "" -0.104 -0.065 -0.085 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 8719.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHD2 Lymphocyte count (30120) EFO_0004587 1.97e-15 1.97 -15 "" 0.873 1.445 1.159 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 41.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" EGFL8 ICD10 L40: Psoriasis EFO_0000676 5.43e-19 5.43 -19 2.354 oddsRatioConfidenceIntervalLower 2.843 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080349 383252 5629 144.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LRP2 Urate (30880) EFO_0004531 1.11e-20 1.11 -20 "" 0.059 0.091 0.075 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 9768.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HNF1A Non cancer illness code self reported - diabetes EFO_0000400 5.58e-13 5.58 -13 7.814 oddsRatioConfidenceIntervalLower 13.664 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077722 331754 17927 25.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Impedance of whole body (23106) HP_0000924 3.99e-18 3.99 -18 "" 0.062 0.099 0.081 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 5847.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TG ICD10 E03: Other hypothyroidism EFO_0004705 1.39e-13 1.39 -13 2.007 oddsRatioConfidenceIntervalLower 2.413 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079722 383065 21010 157.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CKAP2L Mean platelet thrombocyte volume (30100) EFO_0004584 1.22e-11 1.22 -11 "" -0.659 -0.363 -0.511 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 126.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Sitting height (20015) EFO_0011011 5.25e-13 5.25 -13 "" -0.118 -0.067 -0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 2702.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APOB Apolipoprotein B (30640) EFO_0004615 1.08e-89 1.08 -89 "" -0.662 -0.544 -0.603 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 938.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Haemoglobin concentration (30020) EFO_0004509 1.4e-13 1.4 -13 "" -2.212 -1.285 -1.748 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 10.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" IGFALS Trunk fat free mass (23129) EFO_0004995 9.56e-15 9.56 -15 "" -0.124 -0.074 -0.099 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 1957.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SH2B3 Cystatin C (30720) EFO_0004617 2.26e-57 2.26 -57 "" 0.192 0.245 0.219 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 3616.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Whole body water mass (23102) EFO_0009805 1.07e-15 1.07 -15 "" 0.273 0.45 0.362 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 157.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EIF2AK1 Immature reticulocyte fraction (30280) EFO_0010700 1.47e-16 1.47 -16 "" 0.188 0.306 0.247 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 1015.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CLDN10 Creatinine (30700) EFO_0004518 4.01e-15 4.01 -15 "" 0.184 0.306 0.245 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 582.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PALB2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 6.17e-15 6.17 -15 2.38 oddsRatioConfidenceIntervalLower 2.96 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 122.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 5.99e-15 5.99 -15 "" 0.246 0.411 0.329 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 80.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GP1BA Platelet distribution width (30110) EFO_0007984 2.32e-44 2.32 -44 "" 0.359 0.476 0.418 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 899.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADCK3 Mean corpuscular haemoglobin (30050) EFO_0004527 9.07e-16 9.07 -16 "" -0.196 -0.119 -0.158 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 2036.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Hand grip strength left (46) EFO_0006941 1.93e-11 1.93 -11 "" -0.076 -0.042 -0.059 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 5940.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MSH6 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 4.04e-18 4.04 -18 5.998 oddsRatioConfidenceIntervalLower 8.989 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 41.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SCUBE3 Arm fat free mass left (23125) EFO_0004995 5.27e-14 5.27 -14 "" -0.157 -0.092 -0.124 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 1216.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CXCR4 Monocyte count (30130) EFO_0005091 4.2e-15 4.2 -15 "" 0.284 0.474 0.379 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 345.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 Reticulocyte count (30250) EFO_0007986 1.45e-20 1.45 -20 "" 0.36 0.553 0.457 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 359.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HOXB13 Self Report - prostate cancer (20001) EFO_0001663 8.41e-14 8.41 -14 4.292 oddsRatioConfidenceIntervalLower 6.293 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077635 39614 3622 71.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 Lymphocyte percentage (30180) EFO_0007993 1.35e-11 1.35 -11 "" -0.241 -0.133 -0.187 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 1141.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TYRP1 Skin colour - Light olive (1717) EFO_0003784 2.56e-29 2.56 -29 0.486 oddsRatioConfidenceIntervalLower 0.551 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 257.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I42.9: Cardiomyopathy, unspecified EFO_0000318 1.71e-13 1.71 -13 11.143 oddsRatioConfidenceIntervalLower 21.158 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079999 387930 681 18.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" SLC45A2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 3.43e-85 3.43 -85 2.33 oddsRatioConfidenceIntervalLower 2.536 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 989.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" INSC Heel bone mineral density BMD (3148) EFO_0009270 2.89e-15 2.89 -15 "" 0.061 0.101 0.081 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 7647.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OCA2 Skin colour - Light olive (1717) EFO_0003784 4.73e-13 4.73 -13 0.302 oddsRatioConfidenceIntervalLower 0.418 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 32.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" COL4A4 ICD10 R31: Hematuria HP_0000790 5.83e-59 5.83 -59 6.075 oddsRatioConfidenceIntervalLower 7.558 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080842 383009 19710 153.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NPC1 Mean corpuscular volume (30040) EFO_0004526 1.88e-12 1.88 -12 "" -0.16 -0.091 -0.125 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 2745.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TFRC Mean corpuscular volume (30040) EFO_0004526 5.84e-14 5.84 -14 "" -0.918 -0.538 -0.728 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 83.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" EGLN2 Haemoglobin concentration (30020) EFO_0004509 7.89e-18 7.89 -18 "" 0.152 0.241 0.196 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1072.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Haemoglobin concentration (30020) EFO_0004509 1.92e-13 1.92 -13 "" -1.765 -1.022 -1.394 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 21.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CAD Mean reticulocyte volume (30260) EFO_0010701 1.76e-11 1.76 -11 "" 0.042 0.076 0.059 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 11189.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SF3B1 Mean reticulocyte volume (30260) EFO_0010701 1.67e-14 1.67 -14 "" 0.265 0.447 0.356 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 390.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ENG ICD10 I78: Diseases of capillaries EFO_0004264 9.640000000000001e-27 9.64 -27 212.772 oddsRatioConfidenceIntervalLower 567.713 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 14.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC47A1 Creatinine (30700) EFO_0004518 1.6e-20 1.6 -20 "" 0.107 0.164 0.135 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 2692.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Arm predicted mass left (23126) EFO_0004302 8.89e-16 8.89 -16 "" -0.862 -0.524 -0.693 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 44.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" TTN ICD10 I34.0: Nonrheumatic mitral (valve) insufficiency EFO_0009557 1.02e-11 1.02 -11 3.022 oddsRatioConfidenceIntervalLower 4.157 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079991 387332 2987 54.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Haemoglobin concentration (30020) EFO_0004509 7.89e-12 7.89 -12 "" -1.704 -0.945 -1.325 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTA1 High light scatter reticulocyte percentage (30290) EFO_0010700 1.0600000000000001e-35 1.06 -35 "" 0.517 0.71 0.613 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 365.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Direct bilirubin (30660) EFO_0004570 2.05e-12 2.05 -12 "" 0.455 0.808 0.632 "" SAS HANCESTRO_0006 UK Biobank 450k "" 8157 8157 95.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANKRD12 Total protein (30860) EFO_0004536 1.81e-20 1.81 -20 "" -0.631 -0.411 -0.521 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 282.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 1.59e-19 1.59 -19 2.499 oddsRatioConfidenceIntervalLower 3.047 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 142.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANK1 Reticulocyte percentage (30240) EFO_0010700 1.42e-12 1.42 -12 "" 0.435 0.768 0.602 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 123.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 5.88e-36 5.88 -36 18.39 oddsRatioConfidenceIntervalLower 29.01 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 41.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MIP Eye problems disorders - Cataract (6148) MONDO_0005129 5.5e-14 5.5 -14 8.273 oddsRatioConfidenceIntervalLower 14.35 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079433 37798 18309 63.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTA1 Reticulocyte count (30250) EFO_0007986 5.49e-50 5.49 -50 "" 0.631 0.823 0.727 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 365.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" INSC Heel Broadband ultrasound attenuation direct entry (3144) EFO_0004514 8e-18 8.0 -18 "" 0.068 0.108 0.088 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079049 246304 246304 7653.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CNNM4 Calcium (30680) EFO_0004838 5.85e-14 5.85 -14 "" 0.192 0.328 0.26 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 768.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TRIM58 Mean platelet thrombocyte volume (30100) EFO_0004584 7.13e-15 7.13 -15 "" -0.088 -0.053 -0.07 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 9103.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LPA Lipoprotein A (30790) EFO_0006925 9.93e-23 9.93 -23 "" -0.428 -0.285 -0.357 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079034 329317 329317 748.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC1R Hair colour natural before greying - Black (1747) EFO_0007822 1.1800000000000001e-36 1.18 -36 0.337 oddsRatioConfidenceIntervalLower 0.399 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077610 429979 20623 102.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 4.69e-34 4.69 -34 2.749 oddsRatioConfidenceIntervalLower 3.236 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 219.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.42e-20 1.42 -20 2.217 oddsRatioConfidenceIntervalLower 2.622 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 202.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HNF1A OralDiabetes Med (RGC) EFO_0007010 6.15e-12 6.15 -12 7.884 oddsRatioConfidenceIntervalLower 14.201 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081503 320758 13132 22.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PALB2 Type of Cancer: Malignant neoplasm of breast (40006) EFO_0003869 5.19e-12 5.19 -12 3.448 oddsRatioConfidenceIntervalLower 4.901 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079108 41005 12472 77.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 3mm weak meridian left (5096) EFO_0004731 4.96e-15 4.96 -15 "" 0.56 0.934 0.747 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 88.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TERT Mean corpuscular volume (30040) EFO_0004526 3.94e-21 3.94 -21 "" 0.416 0.634 0.525 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 250.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EPB41 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.87e-19 1.87 -19 "" 0.485 0.754 0.619 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 182.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.11e-11 1.11 -11 "" 1.319 2.39 1.855 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 3.62e-14 3.62 -14 7.643 oddsRatioConfidenceIntervalLower 12.936 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 28.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EML4 Impedance of arm left (23110) HP_0000924 1.15e-14 1.15 -14 "" -0.172 -0.103 -0.138 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 1376.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SMAD6 Ankle spacing width left (4100) EFO_0004324 8.77e-14 8.77 -14 "" 0.184 0.315 0.249 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079148 166283 166283 580.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GHRH IGF 1 (30770) EFO_0004627 1.52e-20 1.52 -20 "" -0.845 -0.551 -0.698 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 141.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Leg fat free mass right (23113) EFO_0004995 3.03e-29 3.03 -29 "" 0.156 0.223 0.189 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 7.64e-21 7.64 -21 16.639 oddsRatioConfidenceIntervalLower 29.971 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 24.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 I12: Hypertensive chronic kidney disease MONDO_0024633 2e-11 2.0 -11 2.927 oddsRatioConfidenceIntervalLower 4.006 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079964 387912 1660 55.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NF1 Cystatin C (30720) EFO_0004617 1.41e-14 1.41 -14 "" 0.323 0.544 0.434 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 212.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" KDM5B Hand grip strength right (47) EFO_0006941 2.45e-15 2.45 -15 "" -0.414 -0.25 -0.332 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 256.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Leg fat mass right (23112) EFO_0005409 6.79e-14 6.79 -14 "" 0.294 0.502 0.398 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078915 423659 423659 197.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" KDM5B Duration to first press of snap button in each round (404) EFO_0008354 2.97e-13 2.97 -13 "" 0.314 0.544 0.429 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079143 428085 428085 242.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" UGT1A5 Direct bilirubin (30660) EFO_0004570 1.1900000000000001e-35 1.19 -35 "" 0.313 0.43 0.372 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SPTA1 Direct bilirubin (30660) EFO_0004570 4.1200000000000004e-27 4.12 -27 "" 0.393 0.567 0.48 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 333.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKLR Reticulocyte count (30250) EFO_0007986 4.13e-40 4.13 -40 "" 0.142 0.191 0.166 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 5624.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC45A2 Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 1.9099999999999999e-34 1.91 -34 0.623 oddsRatioConfidenceIntervalLower 0.672 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 941.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TYR Ease of skin tanning - Get very tanned (1727) EFO_0007009 4.86e-14 4.86 -14 0.785 oddsRatioConfidenceIntervalLower 0.836 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 1249.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IFRD2 High light scatter reticulocyte percentage (30290) EFO_0010700 4.1199999999999996e-104 4.12 -104 "" 0.372 0.446 0.409 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 2475.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOC3 Triglycerides (30870) EFO_0004530 1.13e-13 1.13 -13 "" -1.108 -0.645 -0.877 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 59.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ENG ICD10 I78: Diseases of capillaries EFO_0004264 9.640000000000001e-27 9.64 -27 212.772 oddsRatioConfidenceIntervalLower 567.713 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 14.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GP1BA Mean platelet thrombocyte volume (30100) EFO_0004584 4.84e-73 4.84 -73 "" 1.022 1.27 1.146 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 178.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GCK TAG ProbableT2D (RGC) MONDO_0005148 5.43e-24 5.43 -24 4.955 oddsRatioConfidenceIntervalLower 6.76 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081526 426342 17719 72.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHEK2 Mean corpuscular volume (30040) EFO_0004526 2.71e-19 2.71 -19 "" -0.122 -0.078 -0.1 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 6989.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLCO1B3 Total bilirubin (30840) EFO_0004570 6.36e-15 6.36 -15 "" 0.229 0.383 0.306 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 414.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CHEK2 Ever used hormone replacement therapy HRT - Yes (2814) EFO_0003961 1.16e-11 1.16 -11 0.771 oddsRatioConfidenceIntervalLower 0.831 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078962 233003 92655 1377.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PAPPA2 Trunk fat free mass (23129) EFO_0004995 2.01e-14 2.01 -14 "" -0.122 -0.072 -0.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 2007.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 ICD10 D70: Neutropenia MONDO_0001475 6.8e-19 6.8 -19 3.517 oddsRatioConfidenceIntervalLower 4.643 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079716 387075 4407 75.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TPM4 Mean platelet thrombocyte volume (30100) EFO_0004584 1.59e-14 1.59 -14 "" 1.136 1.915 1.526 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 18.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" SMAD6 6mm strong meridian left (5134) EFO_0004731 6.71e-24 6.71 -24 "" 0.508 0.753 0.63 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079300 89735 89735 203.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 4.45e-15 4.45 -15 "" -2.58 -1.548 -2.064 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" POLE Mean reticulocyte volume (30260) EFO_0010701 1.07e-30 1.07 -30 "" 0.123 0.173 0.148 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 5129.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ALB Calcium (30680) EFO_0004838 1.5499999999999998e-40 1.55 -40 "" -1.259 -0.936 -1.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 134.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ALB Calcium (30680) EFO_0004838 3.63e-12 3.63 -12 "" -0.698 -0.391 -0.545 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 148.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SPTB ICD10 D73: Diseases of spleen EFO_0009002 2.3e-14 2.3 -14 48.833 oddsRatioConfidenceIntervalLower 132.537 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079718 387896 692 10.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC4A1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.35e-17 2.35 -17 "" 0.184 0.295 0.24 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 1156.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Leg fat percentage left (23115) EFO_0007800 3.16e-15 3.16 -15 "" 0.099 0.164 0.131 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078918 423643 423643 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean reticulocyte volume (30260) EFO_0010701 9.289999999999999e-42 9.29 -42 "" -1.599 -1.194 -1.396 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9692 9692 99.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOC3 Creatinine (30700) EFO_0004518 1.15e-11 1.15 -11 "" 0.079 0.142 0.11 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 2163.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CLDN10 Creatinine (30700) EFO_0004518 4.01e-15 4.01 -15 "" 0.184 0.306 0.245 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 582.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HTRA1 Standing height (50) EFO_0004339 2.96e-13 2.96 -13 "" -0.25 -0.144 -0.197 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 457.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Whole body water mass (23102) EFO_0009805 3.17e-68 3.17 -68 "" 0.107 0.135 0.121 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 6712.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ALOX15 Eosinophil percentage (30210) EFO_0007991 1.26e-15 1.26 -15 "" -0.201 -0.122 -0.162 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 2138.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TSHR Non cancer illness code self reported - hypothyroidism myxoedema EFO_0004705 6.920000000000001e-29 6.92 -29 2.576 oddsRatioConfidenceIntervalLower 3.042 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 220.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GC Vitamin D (30890) EFO_0004631 9.85e-15 9.85 -15 "" -0.646 -0.385 -0.516 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 206.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC1R Hair colour natural before greying - Dark brown (1747) EFO_0007822 7.71e-14 7.71 -14 0.432 oddsRatioConfidenceIntervalLower 0.539 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 121.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GFI1B Mean platelet thrombocyte volume (30100) EFO_0004584 1.01e-37 1.01 -37 "" 0.802 1.091 0.947 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 177.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CLSPN Mean corpuscular volume (30040) EFO_0004526 7.14e-17 7.14 -17 "" 0.327 0.528 0.427 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 295.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IHH Standing height (50) EFO_0004339 1.27e-13 1.27 -13 "" -1.576 -0.917 -1.247 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 12.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ABCG5 Cholesterol (30690) EFO_0004574 6.62e-15 6.62 -15 "" 0.083 0.139 0.111 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 4164.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SH2B3 Platelet count (30080) EFO_0004309 6.2e-12 6.2 -12 "" 0.215 0.387 0.301 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 400.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Leg fat free mass right (23113) EFO_0004995 1.56e-12 1.56 -12 "" -0.07 -0.039 -0.055 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 5845.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LIPG HDL cholesterol (30760) EFO_0004612 6.9e-27 6.9 -27 "" 0.218 0.316 0.267 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1087.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MYO6 Hearing aid user - Yes (3393) EFO_0009720 2.73e-23 2.73 -23 2.402 oddsRatioConfidenceIntervalLower 2.855 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079053 281979 15741 190.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANGPTL3 Triglycerides (30870) EFO_0004530 3.79e-96 3.79 -96 "" -0.694 -0.575 -0.634 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 867.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ENG ICD10 I78: Diseases of capillaries EFO_0004264 9.640000000000001e-27 9.64 -27 212.772 oddsRatioConfidenceIntervalLower 567.713 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 14.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GCK Metformin Med (RGC) EFO_0007010 1.71e-11 1.71 -11 13.939 oddsRatioConfidenceIntervalLower 30.025 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081499 320758 12065 15.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Comparative height size at age 10 - Taller (1697) EFO_0004339 3.84e-19 3.84 -19 1.448 oddsRatioConfidenceIntervalLower 1.571 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 1008.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SF3B1 Type of Cancer: Chronic lymphocytic leukemia of B-cell type (40006) EFO_0000095 7.96e-14 7.96 -14 18.087 oddsRatioConfidenceIntervalLower 38.657 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079124 74230 571 15.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PAPPA2 Leg predicted mass right (23114) EFO_0004302 2.25e-12 2.25 -12 "" -0.117 -0.066 -0.091 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 2008.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RASA3 Lymphocyte count (30120) EFO_0004587 5.96e-22 5.96 -22 "" -0.317 -0.21 -0.263 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 1171.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GP1BA Mean platelet thrombocyte volume (30100) EFO_0004584 3.48e-112 3.48 -112 "" 0.579 0.689 0.634 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 900.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NR1I3 Total bilirubin (30840) EFO_0004570 5.83e-15 5.83 -15 "" 0.145 0.241 0.193 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1017.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CNPY2 Standing height (50) EFO_0004339 5.41e-14 5.41 -14 "" -0.427 -0.251 -0.339 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 166.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PAPPA2 Trunk fat free mass (23129) EFO_0004995 1.5e-15 1.5 -15 "" -0.14 -0.085 -0.112 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 1620.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CHEK2 Neutrophil count (30140) EFO_0004833 2.86e-13 2.86 -13 "" 0.076 0.131 0.104 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 5035.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHTF18 Mean corpuscular volume (30040) EFO_0004526 6.7e-15 6.7 -15 "" 0.104 0.174 0.139 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 2464.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN ICD10 I47: Paroxysmal tachycardia EFO_0009493 5.12e-14 5.12 -14 2.848 oddsRatioConfidenceIntervalLower 3.74 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080013 387060 4268 73.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" OCA2 Skin colour - Light olive (1717) EFO_0003784 2.4799999999999998e-89 2.48 -89 0.32 oddsRatioConfidenceIntervalLower 0.358 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 274.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean reticulocyte volume (30260) EFO_0010701 4.76e-47 4.76 -47 "" -1.529 -1.163 -1.346 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 96.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CA1 Reticulocyte percentage (30240) EFO_0010700 5.68e-12 5.68 -12 "" 0.193 0.346 0.269 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 582.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" THBS4 6mm weak meridian left (5097) EFO_0004731 1.6200000000000002e-21 1.62 -21 "" -0.372 -0.245 -0.308 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 772.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC1R Hair colour natural before greying - Light brown (1747) EFO_0007822 3.47e-25 3.47 -25 0.748 oddsRatioConfidenceIntervalLower 0.79 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077608 429979 175455 2016.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MSH2 ICD10 Z08: Encounter for follow-up examination after completed treatment for malignant neoplasm EFO_0004542 1.52e-14 1.52 -14 37.798 oddsRatioConfidenceIntervalLower 95.438 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081200 387917 6079 12.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" BRCA1 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 2.41e-13 2.41 -13 4.878 oddsRatioConfidenceIntervalLower 7.454 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 35.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Leg fat free mass left (23117) EFO_0004995 2.58e-14 2.58 -14 "" -0.848 -0.501 -0.674 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 44.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" ASXL1 ICD10 Z72.0: Tobacco use EFO_0007869 3.61e-12 3.61 -12 2.045 oddsRatioConfidenceIntervalLower 2.501 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081310 377012 21842 131.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MLH1 ICD10 C18.9: Malignant neoplasm of colon, unspecified EFO_0004288 3.6e-12 3.6 -12 55.661 oddsRatioConfidenceIntervalLower 172.852 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079580 387789 1360 8.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PROS1 VTE PE CC (RGC) EFO_0004286 1.08e-14 1.08 -14 11.017 oddsRatioConfidenceIntervalLower 20.244 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081536 376456 5226 21.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ADAMTSL4 Forced expiratory volume in 1 second FEV1 Best measure (20150) EFO_0004314 1.67e-12 1.67 -12 "" -0.15 -0.085 -0.117 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078316 322002 322002 1744.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I34: Nonrheumatic mitral valve disorders EFO_0009557 1.03e-12 1.03 -12 2.464 oddsRatioConfidenceIntervalLower 3.158 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079993 386860 3369 85.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.59e-14 1.59 -14 "" 1.326 2.235 1.781 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASGR1 Alkaline phosphatase (30610) EFO_0004533 4.94e-65 4.94 -65 "" 0.859 1.082 0.971 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 240.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" COL4A3 Microalbumin in urine (30500) EFO_0010967 7.49e-13 7.49 -13 "" 0.294 0.515 0.404 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 303.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" UGT1A3 Direct bilirubin (30660) EFO_0004570 1.99e-11 1.99 -11 "" 0.101 0.185 0.143 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1843.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PCSK9 Cholesterol (30690) EFO_0004574 4.0600000000000005e-58 4.06 -58 "" -1.0 -0.783 -0.892 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 275.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PAPPA Sitting height (20015) EFO_0011011 5.04e-12 5.04 -12 "" -0.152 -0.085 -0.118 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1504.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.63e-13 1.63 -13 "" 1.45 2.499 1.975 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 14.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APC ICD10 D12: Benign neoplasm of colon, rectum, anus and anal canal EFO_0002422 5.3700000000000004e-27 5.37 -27 15.03 oddsRatioConfidenceIntervalLower 24.623 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079662 387680 16948 38.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ABCA6 Albumin (30600) EFO_0004535 8.24e-13 8.24 -13 "" -0.183 -0.105 -0.144 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 2206.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS3 Impedance of leg left (23108) HP_0000924 1.37e-39 1.37 -39 "" -0.173 -0.128 -0.151 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 5509.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCA1 HDL cholesterol (30760) EFO_0004612 7.82e-58 7.82 -58 "" -0.88 -0.689 -0.785 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 281.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" EPB41 Glycated haemoglobin HbA1c (30750) EFO_0004541 2.36e-14 2.36 -14 "" -0.39 -0.23 -0.31 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 462.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ZFAT Arm predicted mass right (23122) EFO_0004302 1.11e-13 1.11 -13 "" 0.318 0.547 0.432 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 92.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PKD1 Urea (30670) EFO_0009795 3.53e-29 3.53 -29 "" 0.483 0.688 0.586 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 311.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD1 ICD10 I12: Hypertensive chronic kidney disease MONDO_0024633 1.38e-25 1.38 -25 24.864 oddsRatioConfidenceIntervalLower 45.412 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079964 387912 1660 25.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Arm predicted mass left (23126) EFO_0004302 1.24e-20 1.24 -20 "" -0.126 -0.082 -0.104 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 2642.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IRS1 Arm predicted mass right (23122) EFO_0004302 1.2199999999999999e-23 1.22 -23 "" -0.568 -0.382 -0.475 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 140.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" COL4A4 Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 2.3e-20 2.3 -20 "" 0.669 1.029 0.849 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 109.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SCUBE3 Sitting height (20015) EFO_0011011 2.8800000000000002e-21 2.88 -21 "" -0.167 -0.11 -0.138 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 2094.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS3 Impedance of leg right (23107) HP_0000924 8.39e-22 8.39 -22 "" -0.208 -0.137 -0.173 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 2184.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IQGAP2 Mean platelet thrombocyte volume (30100) EFO_0004584 4.71e-198 4.71 -198 "" 0.629 0.717 0.673 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1430.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PRPSAP1 Urate (30880) EFO_0004531 1.04e-12 1.04 -12 "" 0.123 0.216 0.169 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 1085.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Sitting height (20015) EFO_0011011 3.84e-18 3.84 -18 "" -0.092 -0.058 -0.075 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 5952.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean corpuscular volume (30040) EFO_0004526 4.71e-17 4.71 -17 "" -2.76 -1.715 -2.237 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR MI CC (RGC) EFO_0000612 2.78e-12 2.78 -12 2.127 oddsRatioConfidenceIntervalLower 2.629 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081494 363523 15475 123.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANK1 Mean reticulocyte volume (30260) EFO_0010701 1.89e-21 1.89 -21 "" -0.348 -0.229 -0.289 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 915.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" DGKD Calcium (30680) EFO_0004838 3.1e-16 3.1 -16 "" -0.817 -0.501 -0.659 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 140.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SCUBE3 Standing height (50) EFO_0004339 5.13e-16 5.13 -16 "" -0.533 -0.325 -0.429 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 121.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TNRC6B Hand grip strength left (46) EFO_0006941 3.54e-12 3.54 -12 "" -0.599 -0.336 -0.467 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 99.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TYR Hair colour natural before greying - Blonde (1747) EFO_0007822 1.17e-28 1.17 -28 1.504 oddsRatioConfidenceIntervalLower 1.616 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 1082.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GHRH Whole body fat free mass (23101) EFO_0004995 1.12e-13 1.12 -13 "" -0.442 -0.257 -0.35 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 143.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB HDL cholesterol (30760) EFO_0004612 5.87e-22 5.87 -22 "" 0.249 0.376 0.312 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 640.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GCK T2D New Strict CC (RGC) MONDO_0005148 5.08e-20 5.08 -20 34.58 oddsRatioConfidenceIntervalLower 73.791 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081517 352271 11970 20.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IQGAP2 High light scatter reticulocyte count (30300) EFO_0007986 2.56e-14 2.56 -14 "" 0.141 0.238 0.189 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1400.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Impedance of whole body (23106) HP_0000924 4.99e-26 4.99 -26 "" 0.092 0.134 0.113 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 4406.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PDE3B Hip circumference (49) EFO_0005093 4.1e-16 4.1 -16 "" 0.167 0.273 0.22 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079253 430214 430214 1213.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TBC1D2B Albumin (30600) EFO_0004535 1.35e-14 1.35 -14 "" -0.813 -0.483 -0.648 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 125.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ABCA6 Albumin (30600) EFO_0004535 8.24e-13 8.24 -13 "" -0.183 -0.105 -0.144 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 2206.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LRP5 Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 9.79e-14 9.79 -14 "" -0.76 -0.443 -0.601 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 120.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TYRP1 Hair colour natural before greying - Blonde (1747) EFO_0007822 2.9099999999999998e-30 2.91 -30 4.333 oddsRatioConfidenceIntervalLower 5.572 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 126.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 Illnesses of siblings - Breast cancer (20111) EFO_0009640 9.7e-23 9.7 -23 3.939 oddsRatioConfidenceIntervalLower 5.179 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 84.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OCA2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 1.4e-48 1.4 -48 2.449 oddsRatioConfidenceIntervalLower 2.761 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 493.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN ICD10 Z92.1: Personal history of long-term (current) use of anticoagulants (Z92.1) EFO_0000352 4.19e-14 4.19 -14 1.95 oddsRatioConfidenceIntervalLower 2.319 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081404 387930 15024 173.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ALDH1L1 Creatinine (30700) EFO_0004518 1.76e-13 1.76 -13 "" -0.064 -0.037 -0.05 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 12538.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Treatment or Medication Code - warfarin EFO_0007010 5.36e-12 5.36 -12 2.208 oddsRatioConfidenceIntervalLower 2.766 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078123 320758 4740 102.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC4A1 High light scatter reticulocyte percentage (30290) EFO_0010700 2.64e-12 2.64 -12 "" 0.467 0.83 0.648 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 102.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" ATP11C Glycated haemoglobin HbA1c (30750) EFO_0004541 1.45e-14 1.45 -14 "" -0.825 -0.49 -0.657 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 71.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 ICD10 D70: Neutropenia MONDO_0001475 5.05e-16 5.05 -16 3.494 oddsRatioConfidenceIntervalLower 4.727 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079716 387075 4407 63.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ABCA1 Apolipoprotein A (30630) EFO_0004732 5.45e-146 5.45 -146 "" -1.575 -1.352 -1.463 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 222.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LCORL Leg predicted mass right (23114) EFO_0004302 7.69e-14 7.69 -14 "" 0.273 0.467 0.37 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 138.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APC Non cancer illness code self reported - rectal or colon adenoma polyps EFO_1000633 1.58e-12 1.58 -12 42.769 oddsRatioConfidenceIntervalLower 121.201 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077867 331754 1530 9.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" BRCA1 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 1.05e-18 1.05 -18 2.609 oddsRatioConfidenceIntervalLower 3.228 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 133.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 7.06e-20 7.06 -20 7.643 oddsRatioConfidenceIntervalLower 11.83 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 36.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APOA5 Platelet distribution width (30110) EFO_0007984 1.03e-15 1.03 -15 "" 0.264 0.435 0.35 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 421.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 2.41e-13 2.41 -13 4.878 oddsRatioConfidenceIntervalLower 7.454 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 35.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OCA2 Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 5.06e-14 5.06 -14 0.358 oddsRatioConfidenceIntervalLower 0.468 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 57.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 8.05e-41 8.05 -41 5.343 oddsRatioConfidenceIntervalLower 6.83 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 115.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A10 Total bilirubin (30840) EFO_0004570 2.6e-54 2.6 -54 "" 0.415 0.535 0.475 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 915.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOA5 Apolipoprotein A (30630) EFO_0004732 3.49e-12 3.49 -12 "" -0.279 -0.156 -0.218 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 734.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PLIN1 HDL cholesterol (30760) EFO_0004612 2.5000000000000002e-22 2.5 -22 "" 0.23 0.346 0.288 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 774.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCA1 HDL cholesterol (30760) EFO_0004612 2.2300000000000002e-307 2.23 -307 "" -0.541 -0.488 -0.515 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 3755.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC34A3 Cystatin C (30720) EFO_0004617 4.15e-29 4.15 -29 "" 0.248 0.353 0.3 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 940.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Trunk predicted mass (23130) EFO_0004324 6.69e-15 6.69 -15 "" 0.252 0.421 0.336 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 170.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NF1 Standing height (50) EFO_0004339 4.27e-24 4.27 -24 "" -0.47 -0.317 -0.393 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 222.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PRSS56 3mm weak meridian left (5096) EFO_0004731 7.74e-12 7.74 -12 "" 0.321 0.578 0.449 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 187.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 6.48e-86 6.48 -86 "" -2.278 -1.865 -2.071 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9690 9690 99.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SPTA1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 4.72e-13 4.72 -13 "" 0.291 0.507 0.399 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 304.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ADAMTS17 Impedance of whole body (23106) HP_0000924 1.16e-17 1.16 -17 "" -0.117 -0.073 -0.095 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 4065.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOB Vitamin D (30890) EFO_0004631 1.47e-19 1.47 -19 "" 0.106 0.165 0.136 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 4132.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" POLE Mean corpuscular haemoglobin (30050) EFO_0004527 1.15e-16 1.15 -16 "" 0.212 0.344 0.278 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 689.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Weight (21002) EFO_0004338 4.31e-31 4.31 -31 "" 0.254 0.357 0.306 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 953.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PEAR1 Mean platelet thrombocyte volume (30100) EFO_0004584 8e-14 8.0 -14 "" -0.193 -0.113 -0.153 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1748.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHEK2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 5.17e-17 5.17 -17 1.872 oddsRatioConfidenceIntervalLower 2.168 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 248.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 3.15e-127 3.15 -127 "" -2.408 -2.044 -2.226 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 96.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GMPR Mean corpuscular haemoglobin concentration (30060) EFO_0004528 8.32e-26 8.32 -26 "" 0.134 0.195 0.165 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 3789.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GMPR High light scatter reticulocyte count (30300) EFO_0007986 4.82e-62 4.82 -62 "" 0.224 0.284 0.254 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 3713.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGF1R Trunk predicted mass (23130) EFO_0004324 2.02e-13 2.02 -13 "" -0.621 -0.359 -0.49 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 71.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IRS1 Leg fat free mass left (23117) EFO_0004995 7.07e-17 7.07 -17 "" -0.514 -0.318 -0.416 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 140.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I51: Complications and ill-defined descriptions of heart disease EFO_0003777 2.08e-11 2.08 -11 1.934 oddsRatioConfidenceIntervalLower 2.346 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080027 385880 6712 133.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF1R Trunk fat free mass (23129) EFO_0004995 2.97e-19 2.97 -19 "" -0.259 -0.166 -0.212 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 568.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 Mothers age at death (3526) EFO_0007796 6.03e-12 6.03 -12 "" -0.319 -0.178 -0.249 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 699.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MYO9B Mean platelet thrombocyte volume (30100) EFO_0004584 1.68e-13 1.68 -13 "" 0.061 0.106 0.084 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 5589.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Reticulocyte count (30250) EFO_0007986 1.91e-18 1.91 -18 "" 0.151 0.237 0.194 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1767.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IL33 Non cancer illness code self reported - asthma/ICD10 J45 MONDO_0004979 1.41e-11 1.41 -11 0.707 oddsRatioConfidenceIntervalLower 0.782 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077672 329051 45415 397.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCA1 Apolipoprotein A (30630) EFO_0004732 4.65e-127 4.65 -127 "" -0.87 -0.739 -0.804 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 639.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CETP Apolipoprotein A (30630) EFO_0004732 1.8199999999999998e-45 1.82 -45 "" 0.51 0.674 0.592 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 419.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADH1C IGF 1 (30770) EFO_0004627 2.05e-18 2.05 -18 "" 0.07 0.11 0.09 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 7656.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I42.0: Dilated cardiomyopathy EFO_0000407 4.3900000000000005e-50 4.39 -50 8.086 oddsRatioConfidenceIntervalLower 10.649 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079998 387930 858 93.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ALB LDL direct (30780) EFO_0004611 3.28e-14 3.28 -14 "" 0.43 0.73 0.58 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 147.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MFSD2B High light scatter reticulocyte percentage (30290) EFO_0010700 1.64e-28 1.64 -28 "" -0.171 -0.119 -0.145 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 5756.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 Standing height (50) EFO_0004339 2.87e-19 2.87 -19 "" -0.351 -0.225 -0.288 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 325.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" STAB1 IGF 1 (30770) EFO_0004627 4.84e-12 4.84 -12 "" -0.181 -0.101 -0.141 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1928.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MEN1 ICD10 E21: Hyperparathyroidism and other disorders of parathyroid gland EFO_0008506 8.45e-18 8.45 -18 1086.11 oddsRatioConfidenceIntervalLower 5349.37 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079753 387625 1168 7.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" FLG AdultAsthmaCases vs AdultAsthmaControls (RGC) MONDO_0004979 4.93e-12 4.93 -12 1.437 oddsRatioConfidenceIntervalLower 1.593 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081448 43138 16937 786.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHD2 Lymphocyte count (30120) EFO_0004587 1.97e-15 1.97 -15 "" 0.873 1.445 1.159 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 41.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 2.3e-23 2.3 -23 "" -2.562 -1.72 -2.141 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 21.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" OCA2 Skin colour - Very fair (1717) EFO_0003784 7.45e-28 7.45 -28 5.326 oddsRatioConfidenceIntervalLower 7.186 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 85.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MSH2 ICD10 Z08: Encounter for follow-up examination after completed treatment for malignant neoplasm EFO_0004542 9.44e-12 9.44 -12 6.264 oddsRatioConfidenceIntervalLower 10.617 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081200 387917 6079 24.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CYB561D2 Reticulocyte count (30250) EFO_0007986 1.14e-11 1.14 -11 "" 0.075 0.137 0.106 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 3539.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Basal metabolic rate (23105) EFO_0007777 1.82e-12 1.82 -12 "" 0.067 0.118 0.092 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 2067.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 White blood cell leukocyte count (30000) EFO_0004308 3.95e-18 3.95 -18 "" -0.238 -0.15 -0.194 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 1779.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC22A12 Urate (30880) EFO_0004531 6.81e-142 6.81 -142 "" -1.389 -1.19 -1.289 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 238.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SCUBE3 Sitting height (20015) EFO_0011011 1.58e-14 1.58 -14 "" -0.627 -0.372 -0.499 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 105.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Impedance of arm right (23109) HP_0000924 6.4500000000000004e-27 6.45 -27 "" 0.076 0.11 0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 5848.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" AMPD3 High light scatter reticulocyte percentage (30290) EFO_0010700 1.43e-14 1.43 -14 "" -0.084 -0.05 -0.067 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 11788.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 Trunk fat free mass (23129) EFO_0004995 1.65e-12 1.65 -12 "" -0.346 -0.196 -0.271 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 217.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ITGB3 Platelet count (30080) EFO_0004309 2.53e-16 2.53 -16 "" -0.265 -0.163 -0.214 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1120.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CAD Mean reticulocyte volume (30260) EFO_0010701 4.510000000000001e-31 4.51 -31 "" 0.5 0.704 0.602 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 311.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" PKLR High light scatter reticulocyte percentage (30290) EFO_0010700 7.87e-50 7.87 -50 "" 0.162 0.212 0.187 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 5623.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET1 Standing height (50) EFO_0004339 2.26e-12 2.26 -12 "" 0.371 0.658 0.515 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 62.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 6.619999999999999e-23 6.62 -23 7.66 oddsRatioConfidenceIntervalLower 11.484 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 42.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPTA1 Mean sphered cell volume (30270) EFO_0004526 7.41e-34 7.41 -34 "" -0.675 -0.488 -0.581 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 365.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RASA3 Lymphocyte percentage (30180) EFO_0007993 1.54e-13 1.54 -13 "" -0.254 -0.147 -0.2 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 1171.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SNAP29 Platelet distribution width (30110) EFO_0007984 9.95e-15 9.95 -15 "" -0.128 -0.076 -0.102 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 4584.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I42: Cardiomyopathy EFO_0000318 4.42e-52 4.42 -52 6.375 oddsRatioConfidenceIntervalLower 8.097 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 117.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TSHR ICD10 E03.9: Hypothyroidism, unspecified EFO_0004705 6.08e-13 6.08 -13 2.868 oddsRatioConfidenceIntervalLower 3.82 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079721 385358 19694 73.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RTEL1 Mean reticulocyte volume (30260) EFO_0010701 2.49e-17 2.49 -17 "" 0.144 0.23 0.187 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1727.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MLH1 ICD10 C18.9: Malignant neoplasm of colon, unspecified EFO_0004288 3.4e-12 3.4 -12 56.153 oddsRatioConfidenceIntervalLower 174.581 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079580 387789 1360 8.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC34A1 Phosphate (30810) EFO_0010968 2.79e-14 2.79 -14 "" -0.128 -0.075 -0.102 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 4943.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KDM5B Hand grip strength left (46) EFO_0006941 2.21e-15 2.21 -15 "" -0.414 -0.25 -0.332 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 256.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHEK2 Mean platelet thrombocyte volume (30100) EFO_0004584 6.77e-22 6.77 -22 "" 0.081 0.122 0.102 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 6989.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Arm fat free mass left (23125) EFO_0004995 6.83e-17 6.83 -17 "" -0.893 -0.553 -0.723 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 44.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" CCR3 Eosinophil percentage (30210) EFO_0007991 6.19e-12 6.19 -12 "" 0.125 0.224 0.174 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 1350.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 1.09e-40 1.09 -40 3.707 oddsRatioConfidenceIntervalLower 4.493 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 165.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB High light scatter reticulocyte count (30300) EFO_0007986 2.49e-15 2.49 -15 "" 0.575 0.954 0.765 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9690 9690 99.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYRP1 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 1.21e-12 1.21 -12 1.226 oddsRatioConfidenceIntervalLower 1.296 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 1797.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IFRD2 Reticulocyte percentage (30240) EFO_0010700 2.22e-76 2.22 -76 "" 0.182 0.225 0.204 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 7385.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TYR Skin colour - Very fair (1717) EFO_0003784 1.3e-19 1.3 -19 2.68 oddsRatioConfidenceIntervalLower 3.316 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 134.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.26e-18 6.26 -18 "" 0.986 1.565 1.275 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 39.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.11e-11 1.11 -11 "" 1.319 2.39 1.855 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" INSR Triglycerides (30870) EFO_0004530 5.89e-16 5.89 -16 "" -0.114 -0.07 -0.092 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 6347.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 Cystatin C (30720) EFO_0004617 1.0299999999999999e-40 1.03 -40 "" 0.59 0.793 0.692 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 252.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.8000000000000002e-158 1.8 -158 "" 1.967 2.277 2.122 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 98.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KLF1 Mean corpuscular haemoglobin (30050) EFO_0004527 6.54e-96 6.54 -96 "" -1.272 -1.053 -1.162 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 250.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OCA2 Skin colour - Very fair (1717) EFO_0003784 4.1e-117 4.1 -117 3.17 oddsRatioConfidenceIntervalLower 3.497 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 682.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CLPX Creatinine (30700) EFO_0004518 8.06e-14 8.06 -14 "" 0.055 0.094 0.074 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 5865.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET1 Standing height (50) EFO_0004339 1.04e-13 1.04 -13 "" 0.146 0.251 0.198 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 469.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SVEP1 Mean platelet thrombocyte volume (30100) EFO_0004584 4.25e-15 4.25 -15 "" -0.299 -0.18 -0.239 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 761.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TUBB1 Mean platelet thrombocyte volume (30100) EFO_0004584 4.8200000000000006e-27 4.82 -27 "" 0.393 0.567 0.48 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 358.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MOB3C Mean platelet thrombocyte volume (30100) EFO_0004584 8.67e-19 8.67 -19 "" -0.315 -0.201 -0.258 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 862.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC2A9 Urate (30880) EFO_0004531 3.75e-46 3.75 -46 "" -0.792 -0.601 -0.697 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 276.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ALB Apolipoprotein B (30640) EFO_0004615 1.03e-13 1.03 -13 "" 0.577 0.989 0.783 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 75.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" THPO Platelet crit (30090) EFO_0007985 9.01e-39 9.01 -39 "" -1.346 -0.994 -1.17 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 95.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 2.01e-16 2.01 -16 "" -3.074 -1.891 -2.482 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8409 8409 13.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ATM ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 2.77e-12 2.77 -12 1.551 oddsRatioConfidenceIntervalLower 1.754 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 314.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EEF2 Red blood cell erythrocyte count (30010) EFO_0004305 6.51e-13 6.51 -13 "" -2.068 -1.182 -1.625 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 12.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 3.2e-26 3.2 -26 8.874 oddsRatioConfidenceIntervalLower 13.291 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 44.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" WNT1 Speed of sound through heel left (4103) EFO_0005654 9.76e-13 9.76 -13 "" -0.635 -0.361 -0.498 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079150 166283 166283 164.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR ICD10 I25: Chronic ischemic heart disease EFO_0003777 1.47e-23 1.47 -23 2.338 oddsRatioConfidenceIntervalLower 2.761 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079982 387110 32706 221.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FLG AdultAsthmaCases vs AdultAsthmaControls (RGC) MONDO_0004979 4.93e-12 4.93 -12 1.437 oddsRatioConfidenceIntervalLower 1.593 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081448 43138 16937 786.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 1.52e-19 1.52 -19 "" -1.87 -1.204 -1.537 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 28.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" HMCN1 FEV1 FVC ratio Z score (20258) EFO_0004713 9.47e-47 9.47 -47 "" 0.391 0.515 0.453 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 909.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOA1 Apolipoprotein A (30630) EFO_0004732 2.4900000000000004e-32 2.49 -32 "" -2.25 -1.611 -1.93 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 27.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SCUBE3 Arm fat free mass right (23121) EFO_0004995 1.7e-13 1.7 -13 "" -0.116 -0.067 -0.091 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 2062.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLCN Non cancer illness code self reported - spontaneous pneumothorax recurrent pneumothorax HP_0002108 3.9800000000000006e-21 3.98 -21 24.88 oddsRatioConfidenceIntervalLower 48.514 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077685 331754 1058 20.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCB10 Mean corpuscular haemoglobin (30050) EFO_0004527 9.09e-12 9.09 -12 "" -0.247 -0.137 -0.192 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 986.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Treatment or Medication Code - spironolactone EFO_0007010 4.36e-13 4.36 -13 5.639 oddsRatioConfidenceIntervalLower 9.004 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078038 320758 859 29.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" UGT1A3 Total bilirubin (30840) EFO_0004570 5.21e-17 5.21 -17 "" 0.364 0.587 0.476 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 266.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Hip circumference (49) EFO_0005093 1.21e-16 1.21 -16 "" 0.072 0.117 0.095 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079253 430214 430214 6819.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 4.73e-25 4.73 -25 7.517 oddsRatioConfidenceIntervalLower 11.019 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 48.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LY75 Platelet crit (30090) EFO_0007985 1.14e-32 1.14 -32 "" 0.153 0.214 0.184 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 3340.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" JAK2 Platelet crit (30090) EFO_0007985 4.48e-162 4.48 -162 "" 0.475 0.548 0.511 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 2164.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHTF18 Mean sphered cell volume (30270) EFO_0004526 2.11e-13 2.11 -13 "" 0.188 0.326 0.257 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 673.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SH2B3 Apolipoprotein A (30630) EFO_0004732 5.78e-17 5.78 -17 "" -0.152 -0.094 -0.123 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 3326.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SERPINH1 Standing height (50) EFO_0004339 1.91e-11 1.91 -11 "" -0.73 -0.4 -0.565 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 47.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GHRH Trunk fat free mass (23129) EFO_0004995 1.9e-15 1.9 -15 "" -0.467 -0.282 -0.375 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 143.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Arm fat free mass left (23125) EFO_0004995 1.06e-22 1.06 -22 "" 0.147 0.221 0.184 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RTEL1 Mean sphered cell volume (30270) EFO_0004526 1.2e-11 1.2 -11 "" 0.186 0.337 0.261 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 554.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PDE3B HDL cholesterol (30760) EFO_0004612 9.73e-56 9.73 -56 "" 0.264 0.339 0.301 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1852.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPSB3 Leg fat free mass left (23117) EFO_0004995 1.62e-16 1.62 -16 "" -0.075 -0.046 -0.06 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 6512.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 3.95e-21 3.95 -21 0.174 oddsRatioConfidenceIntervalLower 0.25 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 17.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SHBG Testosterone (30850) EFO_0004908 1.13e-48 1.13 -48 "" -0.363 -0.277 -0.32 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079042 373826 373826 745.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" DOCK8 Platelet distribution width (30110) EFO_0007984 1.31e-22 1.31 -22 "" 0.054 0.081 0.068 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 17342.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASXL1 Mean corpuscular volume (30040) EFO_0004526 1.4e-13 1.4 -13 "" -0.242 -0.14 -0.191 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1167.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASXL1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.2699999999999999e-48 1.27 -48 "" 0.408 0.534 0.471 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 823.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IL17RA Eosinophil count (30150) EFO_0004842 1.65e-19 1.65 -19 "" -0.13 -0.084 -0.107 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 6105.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LY75-CD302 Platelet crit (30090) EFO_0007985 1.37e-28 1.37 -28 "" 0.136 0.194 0.165 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 3586.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MIP ICD10 H26.9: Unspecified cataract MONDO_0005129 1.95e-17 1.95 -17 13.76 oddsRatioConfidenceIntervalLower 25.192 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079892 387427 17761 25.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PRSS56 6mm weak meridian right (5098) EFO_0004731 6.11e-12 6.11 -12 "" 0.347 0.624 0.485 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 162.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLG Non cancer illness code self reported - eczema dermatitis EFO_0005319 1.56e-41 1.56 -41 1.785 oddsRatioConfidenceIntervalLower 1.942 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077853 331754 12790 710.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Leg fat free mass right (23113) EFO_0004995 1.89e-13 1.89 -13 "" -0.507 -0.294 -0.401 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 115.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ALPL Alkaline phosphatase (30610) EFO_0004533 1.14e-13 1.14 -13 "" -2.392 -1.393 -1.892 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9849 9849 13.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS17 Impedance of leg right (23107) HP_0000924 1.57e-13 1.57 -13 "" -0.123 -0.072 -0.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078910 424024 424024 4065.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GATA5 Forced vital capacity FVC Best measure (20151) EFO_0004312 7.06e-14 7.06 -14 "" -0.085 -0.05 -0.067 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078317 322002 322002 5446.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NRK Standing height (50) EFO_0004339 3.29e-17 3.29 -17 "" 0.197 0.316 0.256 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 259.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" COL1A1 Sitting height (20015) EFO_0011011 7.47e-15 7.47 -15 "" -0.995 -0.595 -0.795 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 42.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PIEZO1 Seated height (51) EFO_0011011 8.69e-14 8.69 -14 "" -0.044 -0.026 -0.035 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 24970.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Reticulocyte percentage (30240) EFO_0010700 1.44e-25 1.44 -25 "" 0.191 0.279 0.235 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1754.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANKRD12 Usual walking pace - Slow pace (924) EFO_0008002 1.43e-11 1.43 -11 3.013 oddsRatioConfidenceIntervalLower 4.149 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079509 428255 34629 60.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB LDL direct (30780) EFO_0004611 5.97e-193 5.97 -193 "" -0.594 -0.52 -0.557 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 2472.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOB Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 3.95e-21 3.95 -21 0.174 oddsRatioConfidenceIntervalLower 0.25 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 17.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TFRC Mean corpuscular haemoglobin (30050) EFO_0004527 3.17e-15 3.17 -15 "" -0.27 -0.163 -0.216 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1038.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EXOC3L4 Platelet count (30080) EFO_0004309 1.15e-16 1.15 -16 "" 0.131 0.211 0.171 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1788.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANK1 Reticulocyte count (30250) EFO_0007986 1.39e-11 1.39 -11 "" 0.402 0.731 0.567 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 123.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Leg predicted mass right (23114) EFO_0004302 2.68e-12 2.68 -12 "" 0.305 0.542 0.423 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 92.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PCSK9 LDL direct (30780) EFO_0004611 2.34e-39 2.34 -39 "" -0.966 -0.715 -0.84 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8527 8527 225.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Forced expiratory volume in 1 second FEV1 (3063) EFO_0004314 4.96e-12 4.96 -12 "" -0.097 -0.054 -0.075 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079017 395451 395451 4124.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CHD2 ICD10 C91: Lymphoid leukemia EFO_0004289 1.26e-20 1.26 -20 176.717 oddsRatioConfidenceIntervalLower 525.149 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 11.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" ZFAT Whole body water mass (23102) EFO_0009805 3.23e-16 3.23 -16 "" 0.366 0.597 0.481 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 92.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APOB Triglycerides (30870) EFO_0004530 3.66e-40 3.66 -40 "" -1.314 -0.976 -1.145 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 109.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" TTN Trunk predicted mass (23130) EFO_0004324 5.92e-18 5.92 -18 "" -0.079 -0.05 -0.064 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 5839.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 High light scatter reticulocyte percentage (30290) EFO_0010700 9.29e-26 9.29 -26 "" 0.191 0.279 0.235 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1754.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD1 Creatinine (30700) EFO_0004518 5.9e-14 5.9 -14 "" 0.192 0.328 0.26 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 476.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" ENPP1 Phosphate (30810) EFO_0010968 1.8e-26 1.8 -26 "" -0.27 -0.186 -0.228 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 1925.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 1.48e-18 1.48 -18 5.405 oddsRatioConfidenceIntervalLower 7.873 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 45.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RHAG Mean reticulocyte volume (30260) EFO_0010701 6.120000000000001e-37 6.12 -37 "" -0.637 -0.467 -0.552 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 451.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PCSK9 LDL direct (30780) EFO_0004611 3.61e-16 3.61 -16 "" -1.127 -0.69 -0.908 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 70.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" TET2 High light scatter reticulocyte percentage (30290) EFO_0010700 1.73e-25 1.73 -25 "" 0.189 0.276 0.233 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1767.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 3.14e-20 3.14 -20 4.628 oddsRatioConfidenceIntervalLower 6.411 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 58.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" OCA2 Skin colour - Very fair (1717) EFO_0003784 7.45e-28 7.45 -28 5.326 oddsRatioConfidenceIntervalLower 7.186 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 85.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 8.4e-28 8.4 -28 4.634 oddsRatioConfidenceIntervalLower 6.102 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 95.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RTEL1 Mean sphered cell volume (30270) EFO_0004526 9.54e-21 9.54 -21 "" 0.162 0.247 0.204 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 1725.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FCGRT Calcium (30680) EFO_0004838 5.59e-12 5.59 -12 "" -0.981 -0.546 -0.764 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 74.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PKD1 Treatment or Medication Code - prednisolone EFO_0007010 2.88e-15 2.88 -15 12.131 oddsRatioConfidenceIntervalLower 22.54 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078076 320758 2671 20.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Trunk fat free mass (23129) EFO_0004995 2.98e-18 2.98 -18 "" 0.397 0.628 0.512 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 92.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LRP2 Urate (30880) EFO_0004531 5.36e-19 5.36 -19 "" 0.078 0.122 0.1 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 4932.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC2A9 Urate (30880) EFO_0004531 1.7999999999999998e-138 1.8 -138 "" -0.736 -0.63 -0.683 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 887.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MPO Monocyte count (30130) EFO_0005091 3.4999999999999997e-25 3.5 -25 "" -0.131 -0.09 -0.111 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 7086.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" E2F4 Mean sphered cell volume (30270) EFO_0004526 1.64e-15 1.64 -15 "" 1.112 1.838 1.475 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 24.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z51: Encounter for other aftercare and medical care EFO_0004542 1.53e-12 1.53 -12 1.52 oddsRatioConfidenceIntervalLower 1.706 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081286 383746 34913 372.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LIPC Apolipoprotein A (30630) EFO_0004732 1.44e-35 1.44 -35 "" 0.382 0.525 0.454 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 547.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean reticulocyte volume (30260) EFO_0010701 9.289999999999999e-42 9.29 -42 "" -1.599 -1.194 -1.396 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9692 9692 99.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OR51V1 Mean reticulocyte volume (30260) EFO_0010701 1.39e-11 1.39 -11 "" -1.091 -0.6 -0.845 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9692 9692 71.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ASXL1 ICD10 C92: Myeloid leukemia EFO_0002427 5.06e-36 5.06 -36 17.93 oddsRatioConfidenceIntervalLower 28.161 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 41.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TFRC Red blood cell erythrocyte count (30010) EFO_0004305 2.76e-24 2.76 -24 "" 0.689 1.018 0.853 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 87.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NF1 Non cancer illness code self reported - other neurological problem EFO_0000618 1.1e-36 1.1 -36 28.641 oddsRatioConfidenceIntervalLower 48.164 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077842 331754 1794 35.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ARHGAP18 Mean platelet thrombocyte volume (30100) EFO_0004584 1.84e-11 1.84 -11 "" 0.23 0.419 0.325 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 302.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHTF18 Mean sphered cell volume (30270) EFO_0004526 2.63e-16 2.63 -16 "" 0.184 0.299 0.241 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 949.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GIGYF1 Glycated haemoglobin HbA1c (30750) EFO_0004541 2.82e-25 2.82 -25 "" 0.591 0.866 0.728 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 156.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GATA5 Forced expiratory volume in 1 second FEV1 (3063) EFO_0004314 4.41e-14 4.41 -14 "" -0.082 -0.048 -0.065 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079017 395451 395451 6560.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 Z99: Dependence on enabling machines and devices, not elsewhere classified EFO_0002571 2.43e-28 2.43 -28 31.068 oddsRatioConfidenceIntervalLower 57.178 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081445 385473 3699 26.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" COL4A4 Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 2.3e-20 2.3 -20 "" 0.669 1.029 0.849 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 109.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TET2 Haemoglobin concentration (30020) EFO_0004509 2.09e-13 2.09 -13 "" -0.179 -0.104 -0.141 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1517.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" JAK2 Lymphocyte percentage (30180) EFO_0007993 7.42e-16 7.42 -16 "" -0.2 -0.122 -0.161 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 2163.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 1.0600000000000001e-21 1.06 -21 3.878 oddsRatioConfidenceIntervalLower 5.118 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 82.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TYR Skin colour - Light olive (1717) EFO_0003784 1.5e-25 1.5 -25 0.435 oddsRatioConfidenceIntervalLower 0.508 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 166.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PAPPA2 Leg fat free mass left (23117) EFO_0004995 1.14e-12 1.14 -12 "" -0.133 -0.076 -0.104 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 1621.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SHOX Standing height (50) EFO_0004339 3.24e-23 3.24 -23 "" -1.31 -0.878 -1.094 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 27.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" WNT1 Sitting height (20015) EFO_0011011 3.87e-13 3.87 -13 "" -0.314 -0.18 -0.247 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 382.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GHRH Sitting height (20015) EFO_0011011 2.58e-14 2.58 -14 "" -0.524 -0.31 -0.417 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 146.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Sitting height (20015) EFO_0011011 7.39e-13 7.39 -13 "" 0.263 0.461 0.362 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 172.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CAD Mean sphered cell volume (30270) EFO_0004526 1.3299999999999998e-48 1.33 -48 "" 0.901 1.179 1.04 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 164.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ASXL1 Mean reticulocyte volume (30260) EFO_0010701 4.05e-12 4.05 -12 "" -0.24 -0.135 -0.187 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1149.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Leg predicted mass right (23114) EFO_0004302 2.02e-12 2.02 -12 "" -0.069 -0.039 -0.054 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 5845.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FLCN ICD10 J93: Pneumothorax and air leak MONDO_0002076 3.42e-17 3.42 -17 18.78 oddsRatioConfidenceIntervalLower 37.136 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080153 387375 1190 18.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" WNT1 Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 4.26e-15 4.26 -15 "" -0.564 -0.338 -0.451 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 236.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ATM ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 9.6e-15 9.6 -15 2.962 oddsRatioConfidenceIntervalLower 3.899 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 77.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 2.53e-14 2.53 -14 1.963 oddsRatioConfidenceIntervalLower 2.335 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 166.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" INSC Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 7.44e-15 7.44 -15 "" 0.06 0.1 0.08 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 7653.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OCA2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 4.96e-36 4.96 -36 0.48 oddsRatioConfidenceIntervalLower 0.538 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 389.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MIP Non cancer illness code self reported - cataract MONDO_0005129 1.84e-12 1.84 -12 13.901 oddsRatioConfidenceIntervalLower 28.906 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077756 331754 8629 16.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" POLE Mean corpuscular haemoglobin (30050) EFO_0004527 1.8e-23 1.8 -23 "" 0.098 0.147 0.123 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 5209.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TNFRSF13B Platelet count (30080) EFO_0004309 3.56e-38 3.56 -38 "" -0.154 -0.114 -0.134 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 7148.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TNRC6B Hand grip strength left (46) EFO_0006941 3.54e-12 3.54 -12 "" -0.599 -0.336 -0.467 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 99.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OCA2 Skin colour - Very fair (1717) EFO_0003784 7.890000000000001e-21 7.89 -21 3.828 oddsRatioConfidenceIntervalLower 5.07 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 87.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PIEZO1 Basal metabolic rate (23105) EFO_0007777 7.62e-13 7.62 -13 "" -0.035 -0.02 -0.028 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 24592.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS17 Standing height (50) EFO_0004339 1.3099999999999999e-52 1.31 -52 "" -0.156 -0.121 -0.139 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 4114.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 ICD10 Z99: Dependence on enabling machines and devices, not elsewhere classified EFO_0002571 2.48e-18 2.48 -18 4.189 oddsRatioConfidenceIntervalLower 5.778 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081445 385473 3699 58.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Hand grip strength left (46) EFO_0006941 1.93e-11 1.93 -11 "" -0.076 -0.042 -0.059 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 5940.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Leg predicted mass left (23118) EFO_0004302 2.1e-14 2.1 -14 "" -0.845 -0.5 -0.672 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 44.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" HBB Haematocrit percentage (30030) EFO_0004348 2.71e-55 2.71 -55 "" -1.374 -1.068 -1.221 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 98.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL27A1 Standing height (50) EFO_0004339 1.28e-12 1.28 -12 "" -0.389 -0.22 -0.305 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 182.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R TAG Obesity (RGC) EFO_0001073 5.37e-22 5.37 -22 2.193 oddsRatioConfidenceIntervalLower 2.572 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081522 246639 104086 452.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 4.45e-15 4.45 -15 "" -2.58 -1.548 -2.064 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MSH2 ICD10 Z12.1: Encounter for screening for malignant neoplasm of intestinal tract EFO_0004542 7.39e-16 7.39 -16 10.348 oddsRatioConfidenceIntervalLower 18.261 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081207 387867 8319 24.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RP11-545J16.1 Total bilirubin (30840) EFO_0004570 7.59e-12 7.59 -12 "" 0.156 0.281 0.218 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 628.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Impedance of whole body (23106) HP_0000924 3.99e-18 3.99 -18 "" 0.062 0.099 0.081 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 5847.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A6 Direct bilirubin (30660) EFO_0004570 2.78e-38 2.78 -38 "" 0.294 0.399 0.347 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1161.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB High light scatter reticulocyte count (30300) EFO_0007986 1.4700000000000002e-31 1.47 -31 "" 0.92 1.291 1.106 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 96.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 Glycated haemoglobin HbA1c (30750) EFO_0004541 3.14e-25 3.14 -25 "" -2.01 -1.371 -1.69 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 29.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 ICD10 C77.3: Secondary and unspecified malignant neoplasm of axilla and upper limb lymph nodes MONDO_0024339 6.42e-23 6.42 -23 5.795 oddsRatioConfidenceIntervalLower 8.218 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079618 387930 2725 54.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCAT Apolipoprotein A (30630) EFO_0004732 3.1499999999999995e-23 3.15 -23 "" -1.348 -0.904 -1.126 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 57.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Whole body fat free mass (23101) EFO_0004995 2.4099999999999997e-23 2.41 -23 "" -0.102 -0.069 -0.085 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 4404.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" THBS4 6mm strong meridian left (5134) EFO_0004731 3.71e-20 3.71 -20 "" -0.36 -0.233 -0.296 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079300 89735 89735 772.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANTXR1 Impedance of whole body (23106) HP_0000924 2.37e-12 2.37 -12 "" -0.167 -0.094 -0.131 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 1439.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APC ICD10 D12.8: Benign neoplasm of rectum EFO_0002422 1.01e-12 1.01 -12 16.669 oddsRatioConfidenceIntervalLower 36.126 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079661 387930 4111 14.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CLDN10 Urea (30670) EFO_0009795 1.69e-17 1.69 -17 "" 0.25 0.399 0.324 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 582.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 Pack years adult smoking as proportion of life span exposed to smoking (20162) EFO_0005671 6.27e-16 6.27 -16 "" 0.237 0.389 0.313 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078326 134156 134156 627.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 ICD10 D36.1: Benign neoplasm of peripheral nerves and autonomic nervous system EFO_0002422 1.49e-48 1.49 -48 82.269 oddsRatioConfidenceIntervalLower 148.451 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079694 387929 616 32.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 4.45e-15 4.45 -15 "" -2.58 -1.548 -2.064 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GCK Non cancer illness code self reported - diabetes/ICD10 E14 EFO_0000400 2.83e-15 2.83 -15 17.083 oddsRatioConfidenceIntervalLower 34.55 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077723 329052 16961 20.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" DTL Standing height (50) EFO_0004339 5.23e-25 5.23 -25 "" -0.593 -0.404 -0.498 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 146.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MSH6 ICD10 C54: Malignant neoplasm of corpus uteri EFO_0007532 6.33e-18 6.33 -18 9.093 oddsRatioConfidenceIntervalLower 15.015 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079608 211679 1515 29.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ABCA1 Cholesterol (30690) EFO_0004574 9.57e-19 9.57 -19 "" -0.518 -0.33 -0.424 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 365.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Weight (21002) EFO_0004338 2.4800000000000002e-29 2.48 -29 "" 0.216 0.307 0.262 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 1223.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Weight (21002) EFO_0004338 2.17e-16 2.17 -16 "" 0.358 0.582 0.47 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 202.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC22A12 Urate (30880) EFO_0004531 4.2399999999999996e-67 4.24 -67 "" -1.542 -1.228 -1.385 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 96.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PIEZO1 Reticulocyte count (30250) EFO_0007986 1.66e-16 1.66 -16 "" 0.039 0.063 0.051 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 23943.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EPB41 Reticulocyte count (30250) EFO_0007986 4.3e-20 4.3 -20 "" 0.504 0.778 0.641 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 179.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 Ankle spacing width left (4100) EFO_0004324 1.21e-12 1.21 -12 "" 0.168 0.295 0.232 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079148 166283 166283 610.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TFRC Red blood cell erythrocyte count (30010) EFO_0004305 3.21e-18 3.21 -18 "" 0.606 0.957 0.781 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 76.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBA2 Red blood cell erythrocyte count (30010) EFO_0004305 1.07e-12 1.07 -12 "" 0.646 1.137 0.892 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 39.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB High light scatter reticulocyte count (30300) EFO_0007986 1.4700000000000002e-31 1.47 -31 "" 0.92 1.291 1.106 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 96.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ALPL Alkaline phosphatase (30610) EFO_0004533 1.14e-13 1.14 -13 "" -2.392 -1.393 -1.892 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9849 9849 13.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC4A1 Reticulocyte percentage (30240) EFO_0010700 1.23e-18 1.23 -18 "" 0.639 1.005 0.822 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 102.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" INSC Heel bone mineral density BMD left (4105) EFO_0009270 3.24e-12 3.24 -12 "" 0.063 0.112 0.087 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079152 166186 166186 5111.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 8.95e-19 8.95 -19 5.827 oddsRatioConfidenceIntervalLower 8.609 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 45.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGF1R Whole body fat free mass (23101) EFO_0004995 3.98e-15 3.98 -15 "" -0.144 -0.086 -0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 1485.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SNX17 Triglycerides (30870) EFO_0004530 8.43e-14 8.43 -14 "" -0.076 -0.044 -0.06 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 12828.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" DENND4B Platelet distribution width (30110) EFO_0007984 4.54e-14 4.54 -14 "" -0.269 -0.158 -0.214 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1020.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Apolipoprotein B (30640) EFO_0004615 2.02e-14 2.02 -14 "" -0.197 -0.117 -0.157 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 1993.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CD36 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.47e-29 1.47 -29 "" 0.145 0.206 0.175 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3612.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Leg fat free mass right (23113) EFO_0004995 1.53e-23 1.53 -23 "" 0.2 0.297 0.248 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 554.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN ICD10 I42.9: Cardiomyopathy, unspecified EFO_0000318 5.47e-17 5.47 -17 4.854 oddsRatioConfidenceIntervalLower 7.024 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079999 387930 681 45.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MYO6 Hearing aid user - Yes (3393) EFO_0009720 1e-27 10.0 -28 4.043 oddsRatioConfidenceIntervalLower 5.197 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079053 281979 15741 106.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IDH2 ICD10 C92: Myeloid leukemia EFO_0002427 9.48e-17 9.48 -17 19.113 oddsRatioConfidenceIntervalLower 38.327 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 17.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC9A3R2 Systolic blood pressure automated reading (4080) EFO_0006335 2.03e-19 2.03 -19 "" -0.124 -0.08 -0.102 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079146 408211 408211 6337.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLFN14 Platelet distribution width (30110) EFO_0007984 1.84e-14 1.84 -14 "" -0.429 -0.254 -0.341 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 406.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CALR Platelet count (30080) EFO_0004309 2.46e-84 2.46 -84 "" 1.811 2.217 2.014 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 71.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PROS1 ICD10 I26: Pulmonary embolism EFO_0003827 2.77e-17 2.77 -17 6.326 oddsRatioConfidenceIntervalLower 9.701 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079984 387206 5221 37.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TSHR Non cancer illness code self reported - hypothyroidism myxoedema EFO_1001055 1.04e-18 1.04 -18 3.398 oddsRatioConfidenceIntervalLower 4.457 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 90.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TECTA Hearing difficulty problems background noise - Yes (2257) EFO_0007616 3.71e-12 3.71 -12 1.226 oddsRatioConfidenceIntervalLower 1.299 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078878 422872 167296 2214.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C80: Malignant neoplasm without specification of site EFO_0000616 6.33e-18 6.33 -18 5.925 oddsRatioConfidenceIntervalLower 8.877 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079632 387252 2342 40.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SMAD6 3mm strong meridian right (5132) EFO_0004731 7.68e-18 7.68 -18 "" 0.305 0.486 0.395 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079298 103540 103540 383.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF1R Seated height (51) EFO_0011011 1.71e-12 1.71 -12 "" -0.204 -0.115 -0.159 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 1007.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" JAK2 ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 3.7500000000000003e-26 3.75 -26 5.148 oddsRatioConfidenceIntervalLower 6.973 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 67.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTA1 Mean sphered cell volume (30270) EFO_0004526 7.41e-34 7.41 -34 "" -0.675 -0.488 -0.581 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 365.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OCA2 Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 5.06e-14 5.06 -14 0.358 oddsRatioConfidenceIntervalLower 0.468 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 57.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 5.88e-12 5.88 -12 "" -2.301 -1.281 -1.791 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CYP1A2 Coffee consumed - Yes (100240) EFO_0006781 2.64e-13 2.64 -13 0.685 oddsRatioConfidenceIntervalLower 0.758 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077557 185644 144030 1388.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 Self Report - breast cancer (20001) EFO_0000305 5.05e-14 5.05 -14 4.909 oddsRatioConfidenceIntervalLower 7.427 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077626 39614 10070 81.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK T2D New Strict CC (RGC) MONDO_0005148 5.08e-20 5.08 -20 34.58 oddsRatioConfidenceIntervalLower 73.791 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081517 352271 11970 20.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 4.97e-15 4.97 -15 2.928 oddsRatioConfidenceIntervalLower 3.831 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 81.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BIN2 Mean platelet thrombocyte volume (30100) EFO_0004584 6.74e-14 6.74 -14 "" -0.386 -0.226 -0.306 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 452.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" KLF1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 4.72e-111 4.72 -111 "" 1.194 1.423 1.309 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 250.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" THPO Platelet crit (30090) EFO_0007985 2.33e-12 2.33 -12 "" -0.324 -0.182 -0.253 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 589.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 5.88e-12 5.88 -12 "" -2.301 -1.281 -1.791 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTB Mean reticulocyte volume (30260) EFO_0010701 6.01e-19 6.01 -19 "" -0.872 -0.557 -0.715 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 129.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Seated height (51) EFO_0011011 1.2099999999999998e-52 1.21 -52 "" 0.116 0.15 0.133 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 6819.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OCA2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 2.74e-13 2.74 -13 2.441 oddsRatioConfidenceIntervalLower 3.101 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 123.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CALR High light scatter reticulocyte percentage (30290) EFO_0010700 2.82e-15 2.82 -15 "" 0.67 1.112 0.891 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 69.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MAMDC2 Corneal resistance factor right (5257) EFO_0010067 4.52e-18 4.52 -18 "" 0.19 0.301 0.245 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079336 105888 105888 1123.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CAD Mean corpuscular haemoglobin (30050) EFO_0004527 4.13e-15 4.13 -15 "" 0.359 0.597 0.478 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 210.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MSH2 ICD10 Z08: Encounter for follow-up examination after completed treatment for malignant neoplasm EFO_0004542 9.44e-12 9.44 -12 6.264 oddsRatioConfidenceIntervalLower 10.617 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081200 387917 6079 24.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.71e-13 2.71 -13 "" 0.968 1.678 1.323 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 26.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 1.25e-11 1.25 -11 "" -2.233 -1.231 -1.732 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2106 2106 16.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PAPPA2 Leg fat free mass right (23113) EFO_0004995 2.74e-12 2.74 -12 "" -0.117 -0.066 -0.092 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 2008.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PPARG HDL cholesterol (30760) EFO_0004612 3.51e-15 3.51 -15 "" -0.493 -0.296 -0.394 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 267.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Arm fat percentage left (23123) EFO_0007800 1.21e-21 1.21 -21 "" 0.155 0.235 0.195 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078926 423545 423545 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ATM ICD10 C77: Secondary and unspecified malignant neoplasm of lymph nodes MONDO_0024339 2.36e-12 2.36 -12 2.04 oddsRatioConfidenceIntervalLower 2.489 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079620 387882 7019 126.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 Illnesses of siblings - Breast cancer (20111) EFO_0009640 1.22e-16 1.22 -16 1.647 oddsRatioConfidenceIntervalLower 1.853 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 349.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CYP21A2 ICD10 Z88.0: Allergy status to penicillin MONDO_0005271 2.26e-13 2.26 -13 1.438 oddsRatioConfidenceIntervalLower 1.585 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081381 386040 20233 500.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 ICD10 D36: Benign neoplasm of other and unspecified sites EFO_0002422 5.21e-47 5.21 -47 61.223 oddsRatioConfidenceIntervalLower 107.185 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079695 387660 899 34.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPTA1 High light scatter reticulocyte percentage (30290) EFO_0010700 4.5e-29 4.5 -29 "" 0.501 0.714 0.608 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 299.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Trunk fat mass (23128) EFO_0005409 1.16e-11 1.16 -11 "" 0.322 0.583 0.452 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078931 423433 423433 197.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANK1 Mean sphered cell volume (30270) EFO_0004526 1.01e-34 1.01 -34 "" -0.14 -0.101 -0.121 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 8816.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Leg fat free mass right (23113) EFO_0004995 3.81e-13 3.81 -13 "" 0.212 0.37 0.291 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 213.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ADAMTS3 Impedance of whole body (23106) HP_0000924 1.68e-18 1.68 -18 "" -0.198 -0.126 -0.162 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 1455.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PTPRJ Mean platelet thrombocyte volume (30100) EFO_0004584 1.68e-26 1.68 -26 "" -0.667 -0.459 -0.563 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 255.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SH2B3 Reticulocyte count (30250) EFO_0007986 1.7e-12 1.7 -12 "" 0.105 0.187 0.146 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 2024.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RPL3L ICD10 I48: Atrial fibrillation and flutter EFO_0000275 5.16e-12 5.16 -12 1.667 oddsRatioConfidenceIntervalLower 1.928 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080015 386856 20107 246.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LIPG Apolipoprotein A (30630) EFO_0004732 6.559999999999999e-23 6.56 -23 "" 0.6 0.899 0.75 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 124.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC22A12 Urate (30880) EFO_0004531 7.5e-17 7.5 -17 "" -1.309 -0.811 -1.06 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2106 2106 37.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" JAK2 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.88e-39 6.88 -39 "" 0.219 0.297 0.258 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 2165.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MIP Non cancer illness code self reported - cataract/ICD10 H26 MONDO_0005129 4.33e-14 4.33 -14 6.725 oddsRatioConfidenceIntervalLower 11.028 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077757 329052 7792 29.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SMAD6 6mm strong meridian left (5134) EFO_0004731 8.79e-19 8.79 -19 "" 0.629 0.987 0.808 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079300 89735 89735 95.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Platelet count (30080) EFO_0004309 4.48e-13 4.48 -13 "" -0.339 -0.195 -0.267 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 558.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" EP400 Hand grip strength left (46) EFO_0006941 6.33e-13 6.33 -13 "" -0.414 -0.237 -0.325 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 219.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ALB Total protein (30860) EFO_0004536 8.28e-38 8.28 -38 "" -1.208 -0.889 -1.049 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 134.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CETP Apolipoprotein A (30630) EFO_0004732 1.6199999999999998e-48 1.62 -48 "" 0.4 0.523 0.462 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 739.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CNNM4 Calcium (30680) EFO_0004838 5.85e-14 5.85 -14 "" 0.192 0.328 0.26 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 768.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APEH Haematocrit percentage (30030) EFO_0004348 3.28e-14 3.28 -14 "" -0.236 -0.139 -0.188 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 975.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" KALRN Mean platelet thrombocyte volume (30100) EFO_0004584 8.87e-118 8.87 -118 "" -0.493 -0.415 -0.454 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1893.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SF3B1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.23e-19 6.23 -19 "" 0.322 0.505 0.413 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 394.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PPARG HDL cholesterol (30760) EFO_0004612 3.51e-15 3.51 -15 "" -0.493 -0.296 -0.394 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 267.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB LDL direct (30780) EFO_0004611 3.72e-80 3.72 -80 "" -0.301 -0.244 -0.273 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 4348.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TMPRSS6 Mean corpuscular haemoglobin (30050) EFO_0004527 1.36e-29 1.36 -29 "" -0.588 -0.414 -0.501 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 400.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ABCB4 Alanine aminotransferase (30620) EFO_0004735 4.01e-17 4.01 -17 "" 0.243 0.39 0.316 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 572.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TET2 ICD10 D70: Neutropenia MONDO_0001475 4.42e-19 4.42 -19 3.546 oddsRatioConfidenceIntervalLower 4.683 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079716 387075 4407 75.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGFALS Sitting height (20015) EFO_0011011 1.3e-12 1.3 -12 "" -0.134 -0.076 -0.105 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1996.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS17 Comparative height size at age 10 - Shorter (1697) EFO_0004339 1.37e-17 1.37 -17 2.619 oddsRatioConfidenceIntervalLower 3.266 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 156.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PLIN1 Reticulocyte count (30250) EFO_0007986 1.69e-11 1.69 -11 "" -0.278 -0.153 -0.216 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 840.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANK1 Reticulocyte count (30250) EFO_0007986 1.87e-19 1.87 -19 "" 1.013 1.576 1.294 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 42.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" MSH2 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 1.3800000000000001e-22 1.38 -22 10.847 oddsRatioConfidenceIntervalLower 17.491 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 36.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Haematocrit percentage (30030) EFO_0004348 1.64e-27 1.64 -27 "" -1.101 -0.764 -0.932 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" STC2 Leg fat free mass left (23117) EFO_0004995 1.2e-18 1.2 -18 "" 0.081 0.128 0.104 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 2488.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC34A3 Creatinine (30700) EFO_0004518 9.969999999999999e-40 9.97 -40 "" 0.143 0.193 0.168 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 3539.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 Speed of sound through heel (3146) EFO_0005654 1.79e-12 1.79 -12 "" -0.547 -0.309 -0.428 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 215.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK TAG ProbableT2D (RGC) MONDO_0005148 2.32e-21 2.32 -21 23.874 oddsRatioConfidenceIntervalLower 45.974 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081526 426342 17719 25.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.11e-81 3.11 -81 "" -2.209 -1.797 -2.003 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Whole body fat free mass (23101) EFO_0004995 2.95e-30 2.95 -30 "" 0.227 0.321 0.274 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 554.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC2A9 Urate (30880) EFO_0004531 4.3500000000000003e-26 4.35 -26 "" -0.922 -0.634 -0.778 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9833 9833 135.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ASXL1 Age stopped smoking (2897) EFO_0004319 3.35e-16 3.35 -16 "" 0.277 0.451 0.364 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078969 108447 108447 458.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Basal metabolic rate (23105) EFO_0007777 5.17e-17 5.17 -17 "" -0.572 -0.355 -0.463 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 115.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RNF10 High light scatter reticulocyte count (30300) EFO_0007986 1.06e-15 1.06 -15 "" 0.724 1.193 0.959 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 60.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 DD Cancer - Yes (2453) EFO_0000311 6.97e-17 6.97 -17 3.726 oddsRatioConfidenceIntervalLower 5.074 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 70.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLTM Impedance of whole body (23106) HP_0000924 5.13e-12 5.13 -12 "" -0.627 -0.35 -0.488 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 99.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" DGKD Calcium (30680) EFO_0004838 3.4e-14 3.4 -14 "" -0.92 -0.542 -0.731 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 98.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ALPL Alkaline phosphatase (30610) EFO_0004533 2.2300000000000002e-307 2.23 -307 "" -2.371 -2.154 -2.262 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 255.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN ICD10 I48: Atrial fibrillation and flutter EFO_0000275 3.95e-25 3.95 -25 1.771 oddsRatioConfidenceIntervalLower 1.974 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080015 386856 20107 452.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Trunk predicted mass (23130) EFO_0004324 3.14e-18 3.14 -18 "" 0.396 0.626 0.511 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 92.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SPHK1 Lymphocyte count (30120) EFO_0004587 7.9e-20 7.9 -20 "" 0.086 0.133 0.11 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 6077.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TG ICD10 E03: Other hypothyroidism EFO_0004705 1.39e-13 1.39 -13 2.007 oddsRatioConfidenceIntervalLower 2.413 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079722 383065 21010 157.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RTEL1 Mean corpuscular volume (30040) EFO_0004526 1.2e-20 1.2 -20 "" 0.155 0.237 0.196 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1760.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MYD88 Type of Cancer: Lymphoid leukemia (40006) EFO_0004289 7.16e-15 7.16 -15 25.012 oddsRatioConfidenceIntervalLower 56.274 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079125 74230 699 14.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CLSPN Mean corpuscular haemoglobin (30050) EFO_0004527 2.18e-11 2.18 -11 "" 0.241 0.44 0.341 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 298.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANKRD12 Mean corpuscular haemoglobin (30050) EFO_0004527 3.17e-14 3.17 -14 "" -0.475 -0.28 -0.378 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 312.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PRPH2 Eye problems disorders - Macular degeneration (6148) EFO_0009606 7.78e-13 7.78 -13 43.337 oddsRatioConfidenceIntervalLower 121.513 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079434 37798 4185 15.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGFALS Sitting height (20015) EFO_0011011 1.05e-11 1.05 -11 "" -0.095 -0.052 -0.074 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 3747.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Reticulocyte count (30250) EFO_0007986 1.25e-18 1.25 -18 "" 0.152 0.239 0.196 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1754.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Treatment or Medication Code - spironolactone EFO_0007010 4.36e-13 4.36 -13 5.639 oddsRatioConfidenceIntervalLower 9.004 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078038 320758 859 29.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Pulse rate automated reading (102) EFO_0004326 1.4599999999999998e-52 1.46 -52 "" 0.253 0.328 0.291 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 2574.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LPL HDL cholesterol (30760) EFO_0004612 1.12e-33 1.12 -33 "" -0.488 -0.352 -0.42 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 565.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MSH6 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 4.2e-12 4.2 -12 2.657 oddsRatioConfidenceIntervalLower 3.502 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 79.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GGT1 Gamma glutamyltransferase (30730) EFO_0004532 3.21e-69 3.21 -69 "" -1.288 -1.03 -1.159 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 175.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Impedance of whole body (23106) HP_0000924 3.51e-24 3.51 -24 "" -0.246 -0.166 -0.206 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SIX6 SphericalEquivalent r (RGC) EFO_0004731 1.6700000000000002e-21 1.67 -21 "" -0.276 -0.182 -0.229 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081512 107475 107475 1505.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NPR2 Standing height (50) EFO_0004339 4.21e-13 4.21 -13 "" -0.506 -0.291 -0.398 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 111.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" LCORL Standing height (50) EFO_0004339 2.95e-32 2.95 -32 "" 0.45 0.629 0.54 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 161.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TUBB1 Platelet count (30080) EFO_0004309 8.78e-135 8.78 -135 "" -0.438 -0.373 -0.405 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 2828.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Leg fat free mass right (23113) EFO_0004995 8.34e-29 8.34 -29 "" 0.175 0.25 0.213 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" POR Tea intake (1488) EFO_0010091 2.04e-13 2.04 -13 "" -0.137 -0.079 -0.108 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077587 417958 417958 4192.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 Mothers age at death (3526) EFO_0007796 4.45e-26 4.45 -26 "" -0.397 -0.273 -0.335 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079060 263428 263428 908.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CXCL2 Neutrophil count (30140) EFO_0004833 1.13e-18 1.13 -18 "" -1.004 -0.639 -0.822 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 102.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CST9L Cystatin C (30720) EFO_0004617 1.55e-11 1.55 -11 "" -0.481 -0.265 -0.373 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 237.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NRK Standing height (50) EFO_0004339 6.07e-12 6.07 -12 "" 0.187 0.337 0.262 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 148.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PCSK9 Cholesterol (30690) EFO_0004574 4.91e-12 4.91 -12 "" -0.975 -0.544 -0.76 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 70.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" ASGR1 Apolipoprotein B (30640) EFO_0004615 6.53e-18 6.53 -18 "" -0.351 -0.221 -0.286 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 759.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RHAG Mean reticulocyte volume (30260) EFO_0010701 1.26e-15 1.26 -15 "" -0.545 -0.33 -0.437 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 285.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PCSK9 Non cancer illness code self reported - high cholesterol HP_0003124 2.25e-18 2.25 -18 0.228 oddsRatioConfidenceIntervalLower 0.318 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 24.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ATM ICD10 C50: Malignant neoplasm of breast EFO_0003869 1.28e-11 1.28 -11 1.764 oddsRatioConfidenceIntervalLower 2.079 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 188.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZNF229 LDL direct (30780) EFO_0004611 2.9e-28 2.9 -28 "" -0.171 -0.12 -0.145 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 5193.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NPR2 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 3.2200000000000003e-21 3.22 -21 "" -0.213 -0.14 -0.176 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 410.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS3 Standing height (50) EFO_0004339 3.09e-17 3.09 -17 "" -0.128 -0.08 -0.104 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2216.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR ICD10 E78: Disorders of lipoprotein metabolism and other lipidemias Orphanet_79062 1.8e-17 1.8 -17 3.435 oddsRatioConfidenceIntervalLower 4.564 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079768 372199 51365 94.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TP53 ICD10 C91: Lymphoid leukemia EFO_0004289 2.99e-14 2.99 -14 13.885 oddsRatioConfidenceIntervalLower 27.368 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 17.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MSH6 ICD10 C54.1: Malignant neoplasm of endometrium MONDO_0011962 1.21e-18 1.21 -18 5.499 oddsRatioConfidenceIntervalLower 8.034 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079607 228786 1469 45.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.63e-13 1.63 -13 "" 1.45 2.499 1.975 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 14.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TBC1D2B Albumin (30600) EFO_0004535 1.35e-14 1.35 -14 "" -0.813 -0.483 -0.648 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 125.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CKAP2L Mean platelet thrombocyte volume (30100) EFO_0004584 3.92e-25 3.92 -25 "" -0.591 -0.403 -0.497 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 311.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Eosinophil count (30150) EFO_0004842 1.5700000000000001e-26 1.57 -26 "" -0.437 -0.302 -0.369 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 708.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" MLH1 DD Cancer - Yes (2453) EFO_0000311 4.16e-16 4.16 -16 11.08 oddsRatioConfidenceIntervalLower 19.78 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 28.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" COL8A2 Impedance of whole body (23106) HP_0000924 1.62e-13 1.62 -13 "" 0.134 0.231 0.183 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 811.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD1 ICD10 Q61: Cystic kidney disease EFO_0008615 4.76e-123 4.76 -123 207.08 oddsRatioConfidenceIntervalLower 322.526 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 68.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TYRP1 Hair colour natural before greying - Dark brown (1747) EFO_0007822 1.99e-43 1.99 -43 0.51 oddsRatioConfidenceIntervalLower 0.561 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 613.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLFN14 Platelet distribution width (30110) EFO_0007984 1.84e-14 1.84 -14 "" -0.429 -0.254 -0.341 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 406.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CLSPN Mean corpuscular volume (30040) EFO_0004526 6.67e-17 6.67 -17 "" 0.326 0.525 0.426 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 298.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR LipidLowering Med (RGC) EFO_0007010 2.0300000000000002e-21 2.03 -21 3.832 oddsRatioConfidenceIntervalLower 5.056 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 128.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC ICD10 K91.4: Colostomy and enterostomy malfunction (K91.4) EFO_0000405 5.54e-12 5.54 -12 72.337 oddsRatioConfidenceIntervalLower 244.463 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080316 387930 635 7.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" ADAMTS17 Seated height (51) EFO_0011011 5.95e-20 5.95 -20 "" -0.125 -0.081 -0.103 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 4115.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TYR Ease of skin tanning - Never tan only burn (1727) EFO_0007009 6.88e-28 6.88 -28 2.003 oddsRatioConfidenceIntervalLower 2.268 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 426.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FCGRT Albumin (30600) EFO_0004535 2.67e-35 2.67 -35 "" -2.198 -1.598 -1.898 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 38.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FLG ICD10 J45: Asthma MONDO_0004979 5.2e-13 5.2 -13 1.232 oddsRatioConfidenceIntervalLower 1.303 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080141 383974 39436 1513.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC22A12 Urate (30880) EFO_0004531 7.2e-16 7.2 -16 "" -1.294 -0.788 -1.041 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8534 8534 43.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF1R Basal metabolic rate (23105) EFO_0007777 2.18e-19 2.18 -19 "" -0.273 -0.175 -0.224 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 568.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 ICD10 C77: Secondary and unspecified malignant neoplasm of lymph nodes MONDO_0024339 3.3e-31 3.3 -31 4.35 oddsRatioConfidenceIntervalLower 5.575 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079620 387882 7019 101.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ATM DD Cancer - Yes (2453) EFO_0000311 2.45e-12 2.45 -12 1.323 oddsRatioConfidenceIntervalLower 1.43 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 794.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GMPR Reticulocyte percentage (30240) EFO_0010700 9.8e-77 9.8 -77 "" 0.257 0.318 0.288 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 3714.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 3.6400000000000002e-47 3.64 -47 3.049 oddsRatioConfidenceIntervalLower 3.548 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 274.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A10 Direct bilirubin (30660) EFO_0004570 5.83e-33 5.83 -33 "" 0.312 0.434 0.373 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 850.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL6A1 Corneal hysteresis left (5264) EFO_0010066 1.09e-25 1.09 -25 "" -1.384 -0.948 -1.166 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079339 105697 105697 73.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RNF20 Mean corpuscular volume (30040) EFO_0004526 8.3e-13 8.3 -13 "" -0.524 -0.299 -0.411 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 235.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC1R Hair colour natural before greying - Red (1747) EFO_0007822 4.93e-56 4.93 -56 8.702 oddsRatioConfidenceIntervalLower 11.387 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 108.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GPLD1 Alkaline phosphatase (30610) EFO_0004533 7.049999999999999e-45 7.05 -45 "" -0.68 -0.513 -0.596 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 436.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RP11-545J16.1 Direct bilirubin (30660) EFO_0004570 2.83e-19 2.83 -19 "" 0.141 0.219 0.18 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1683.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TADA1 Platelet distribution width (30110) EFO_0007984 5.14e-12 5.14 -12 "" 0.243 0.435 0.339 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 339.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CALR Platelet distribution width (30110) EFO_0007984 1.68e-11 1.68 -11 "" 0.507 0.924 0.716 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 71.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 5.6e-106 5.6 -106 "" 1.852 2.217 2.035 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CD36 Platelet distribution width (30110) EFO_0007984 1.06e-15 1.06 -15 "" 0.124 0.205 0.165 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1929.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Trunk fat free mass (23129) EFO_0004995 6.3299999999999995e-25 6.33 -25 "" -0.105 -0.072 -0.088 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 4402.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SMAD6 Sitting height (20015) EFO_0011011 6.11e-16 6.11 -16 "" 0.105 0.173 0.139 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1487.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 5.37e-29 5.37 -29 10.481 oddsRatioConfidenceIntervalLower 15.826 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 44.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Impedance of leg left (23108) HP_0000924 8.12e-15 8.12 -15 "" -0.585 -0.349 -0.467 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 197.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A9 Direct bilirubin (30660) EFO_0004570 3.24e-16 3.24 -16 "" 0.302 0.492 0.397 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 352.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF1R Whole body water mass (23102) EFO_0009805 3.73e-22 3.73 -22 "" -0.209 -0.138 -0.173 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 995.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SCUBE3 Seated height (51) EFO_0011011 1.12e-20 1.12 -20 "" -0.231 -0.151 -0.191 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 1235.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IQGAP2 Total protein (30860) EFO_0004536 5.84e-17 5.84 -17 "" -0.156 -0.097 -0.127 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 3936.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Impedance of arm right (23109) HP_0000924 1.02e-36 1.02 -36 "" 0.106 0.145 0.126 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 4407.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 Illnesses of mother - None of the above group 2 (20110) EFO_0000493 5.82e-16 5.82 -16 0.83 oddsRatioConfidenceIntervalLower 0.869 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078283 423686 308506 6383.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGF1R Arm predicted mass left (23126) EFO_0004302 1.61e-15 1.61 -15 "" -0.417 -0.253 -0.335 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 185.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" GP1BB Platelet count (30080) EFO_0004309 2.85e-44 2.85 -44 "" -1.92 -1.447 -1.683 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 52.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 9.86e-19 9.86 -19 8.455 oddsRatioConfidenceIntervalLower 13.575 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 32.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" STC2 Whole body fat free mass (23101) EFO_0004995 5.91e-24 5.91 -24 "" 0.092 0.137 0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 2489.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IL33 Asthma Strict CC (RGC) MONDO_0004979 1.67e-11 1.67 -11 0.696 oddsRatioConfidenceIntervalLower 0.773 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081460 376289 39436 344.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UPB1 Gamma glutamyltransferase (30730) EFO_0004532 1.8499999999999999e-28 1.85 -28 "" 0.18 0.257 0.218 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1956.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCA1 Cholesterol (30690) EFO_0004574 8.79e-15 8.79 -15 "" -0.338 -0.202 -0.27 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 695.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KLF1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 4.72e-111 4.72 -111 "" 1.194 1.423 1.309 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 250.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GIGYF1 Apolipoprotein B (30640) EFO_0004615 2.94e-14 2.94 -14 "" -0.707 -0.417 -0.562 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 152.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Arm predicted mass right (23122) EFO_0004302 6.84e-19 6.84 -19 "" -0.564 -0.36 -0.462 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 115.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 2.36e-12 2.36 -12 "" -1.602 -0.902 -1.252 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9830 9830 28.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 Urea (30670) EFO_0009795 9.139999999999999e-30 9.14 -30 "" 0.735 1.042 0.888 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 138.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" LCORL Leg fat free mass right (23113) EFO_0004995 6.74e-14 6.74 -14 "" 0.275 0.471 0.373 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 138.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PDE3B HDL cholesterol (30760) EFO_0004612 1.97e-39 1.97 -39 "" 0.282 0.381 0.331 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1066.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Seated height (51) EFO_0011011 1.53e-11 1.53 -11 "" -0.094 -0.051 -0.073 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 4492.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ABCB11 Alkaline phosphatase (30610) EFO_0004533 1.42e-33 1.42 -33 "" 0.205 0.285 0.245 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 1887.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FCGRT Albumin (30600) EFO_0004535 8.809999999999999e-38 8.81 -38 "" -1.625 -1.194 -1.41 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 74.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOB Direct bilirubin (30660) EFO_0004570 2.8e-14 2.8 -14 "" 0.111 0.188 0.149 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 2167.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" STAB1 IGF 1 (30770) EFO_0004627 5.44e-13 5.44 -13 "" -0.111 -0.064 -0.087 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 5621.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Pulse rate automated reading (102) EFO_0004326 1.5e-45 1.5 -45 "" 0.181 0.239 0.21 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 4262.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" KDM5B Mean time to correctly identify matches (20023) EFO_0008354 1.15e-14 1.15 -14 "" 0.34 0.571 0.455 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078252 427920 427920 242.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PDE3B Seated height (51) EFO_0011011 1.05e-13 1.05 -13 "" 0.113 0.193 0.153 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 1214.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" INSC Heel bone mineral density BMD T score automated (78) EFO_0009270 7.44e-15 7.44 -15 "" 0.06 0.1 0.08 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 7653.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL27A1 Standing height (50) EFO_0004339 1.28e-12 1.28 -12 "" -0.389 -0.22 -0.305 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 182.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Leg predicted mass left (23118) EFO_0004302 4.4300000000000005e-21 4.43 -21 "" 0.185 0.283 0.234 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 554.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Sitting height (20015) EFO_0011011 3.84e-18 3.84 -18 "" -0.092 -0.058 -0.075 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 5952.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PLD1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.58e-51 2.58 -51 "" 0.192 0.25 0.221 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 4004.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Haemoglobin concentration (30020) EFO_0004509 5.62e-65 5.62 -65 "" -1.636 -1.298 -1.467 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I47: Paroxysmal tachycardia EFO_0009493 5.12e-14 5.12 -14 2.848 oddsRatioConfidenceIntervalLower 3.74 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080013 387060 4268 73.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - rosuvastatin EFO_0007010 5.8e-14 5.8 -14 10.505 oddsRatioConfidenceIntervalLower 19.404 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078225 320758 2905 20.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SYNJ2 Gamma glutamyltransferase (30730) EFO_0004532 8.18e-44 8.18 -44 "" -0.106 -0.08 -0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 17107.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CRP C reactive protein (30710) EFO_0004458 1.75e-23 1.75 -23 "" -0.989 -0.665 -0.827 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079026 411229 411229 130.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GPLD1 Alkaline phosphatase (30610) EFO_0004533 3.45e-12 3.45 -12 "" -1.028 -0.576 -0.802 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9849 9849 64.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NF1 Standing height (50) EFO_0004339 8.84e-13 8.84 -13 "" -0.241 -0.137 -0.189 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 480.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 3.2200000000000005e-64 3.22 -64 "" 1.638 2.067 1.853 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TMCC2 Mean platelet thrombocyte volume (30100) EFO_0004584 9.55e-13 9.55 -13 "" -0.236 -0.134 -0.185 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1090.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 3.2200000000000005e-64 3.22 -64 "" 1.638 2.067 1.853 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A4 Total bilirubin (30840) EFO_0004570 5.48e-15 5.48 -15 "" 0.31 0.517 0.414 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9811 9811 347.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SRSF2 ICD10 C92: Myeloid leukemia EFO_0002427 1.96e-43 1.96 -43 82.08 oddsRatioConfidenceIntervalLower 153.368 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 29.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ALAS2 Mean corpuscular haemoglobin (30050) EFO_0004527 8.41e-16 8.41 -16 "" -0.438 -0.267 -0.352 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 225.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOB Alanine aminotransferase (30620) EFO_0004735 6.23e-18 6.23 -18 "" 0.227 0.36 0.293 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 700.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APC ICD10 K91: Intraoperative and postprocedural complications and disorders of digestive system, not elsewhere classified EFO_0000405 1.1e-15 1.1 -15 31.771 oddsRatioConfidenceIntervalLower 74.012 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080318 387834 2050 13.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TYR Hair colour natural before greying - Blonde (1747) EFO_0007822 4.94e-41 4.94 -41 2.121 oddsRatioConfidenceIntervalLower 2.368 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 515.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BTG2 Mean sphered cell volume (30270) EFO_0004526 1.8e-11 1.8 -11 "" 0.223 0.406 0.315 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 383.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A8 Total bilirubin (30840) EFO_0004570 1e-15 10.0 -16 "" 0.323 0.532 0.428 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9811 9811 342.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTSL4 Forced expiratory volume in 1 second FEV1 Best measure (20150) EFO_0004314 1.67e-12 1.67 -12 "" -0.15 -0.085 -0.117 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078316 322002 322002 1744.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Basal metabolic rate (23105) EFO_0007777 6.26e-15 6.26 -15 "" 0.216 0.361 0.289 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 257.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LIPG Apolipoprotein A (30630) EFO_0004732 6.559999999999999e-23 6.56 -23 "" 0.6 0.899 0.75 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 124.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" G6PC IGF 1 (30770) EFO_0004627 1.02e-11 1.02 -11 "" -0.206 -0.114 -0.16 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1448.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LIPC HDL cholesterol (30760) EFO_0004612 3.2900000000000003e-57 3.29 -57 "" 0.265 0.339 0.302 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1900.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PLEKHO2 Platelet distribution width (30110) EFO_0007984 5.06e-12 5.06 -12 "" 0.491 0.88 0.686 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 81.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PRPH2 Eye problems disorders - Macular degeneration (6148) EFO_0009606 5.98e-14 5.98 -14 5.328 oddsRatioConfidenceIntervalLower 8.245 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079434 37798 4185 42.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TECTA Hearing difficulty problems - Yes (2247) EFO_0007616 6.77e-17 6.77 -17 1.393 oddsRatioConfidenceIntervalLower 1.506 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 1060.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IL17RA Neutrophil count (30140) EFO_0004833 5.19e-14 5.19 -14 "" -0.115 -0.067 -0.091 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 6105.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" POLE Mean sphered cell volume (30270) EFO_0004526 3.31e-12 3.31 -12 "" 0.129 0.231 0.18 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 1239.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" COL4A4 Microalbumin in urine (30500) EFO_0010967 6.14e-12 6.14 -12 "" 0.45 0.808 0.629 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 115.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Leg fat free mass right (23113) EFO_0004995 1.56e-12 1.56 -12 "" -0.07 -0.039 -0.055 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 5845.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Impedance of whole body (23106) HP_0000924 4.99e-26 4.99 -26 "" 0.092 0.134 0.113 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 4406.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NF1 Non cancer illness code self reported - other neurological problem/ICD10 G98 EFO_0000618 3.8700000000000004e-27 3.87 -27 47.632 oddsRatioConfidenceIntervalLower 96.096 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077843 329052 1701 21.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" APC ICD10 Z83: Family history of other specific disorders EFO_0000493 4.36e-15 4.36 -15 18.592 oddsRatioConfidenceIntervalLower 38.592 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081343 376753 4125 16.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" UGT1A7 Direct bilirubin (30660) EFO_0004570 8.06e-27 8.06 -27 "" 0.224 0.324 0.274 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1276.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 9.91e-15 9.91 -15 1.747 oddsRatioConfidenceIntervalLower 2.012 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 250.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RHAG Glycated haemoglobin HbA1c (30750) EFO_0004541 3.44e-30 3.44 -30 "" -0.689 -0.487 -0.588 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 289.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF2BP2 Standing height (50) EFO_0004339 9.24e-18 9.24 -18 "" -0.303 -0.19 -0.247 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 408.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANKRD12 Mean corpuscular haemoglobin (30050) EFO_0004527 3.17e-14 3.17 -14 "" -0.475 -0.28 -0.378 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 312.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOC3 LDL direct (30780) EFO_0004611 3.23e-18 3.23 -18 "" -0.213 -0.135 -0.174 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 2157.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GYG1 Standing height (50) EFO_0004339 6.75e-15 6.75 -15 "" -0.087 -0.052 -0.07 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 4239.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GP1BA Platelet distribution width (30110) EFO_0007984 2.09e-18 2.09 -18 "" 0.646 1.018 0.832 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 89.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APC ICD10 D13.1: Benign neoplasm of stomach MONDO_0021449 4.6200000000000004e-27 4.62 -27 91.43 oddsRatioConfidenceIntervalLower 207.911 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079663 387930 1028 17.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SPTA1 Mean reticulocyte volume (30260) EFO_0010701 8.79e-12 8.79 -12 "" -0.879 -0.487 -0.683 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 85.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" APOA1 HDL cholesterol (30760) EFO_0004612 8.66e-16 8.66 -16 "" -1.119 -0.681 -0.9 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 54.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MSH6 ICD10 C54: Malignant neoplasm of corpus uteri EFO_0007532 1.29e-19 1.29 -19 5.578 oddsRatioConfidenceIntervalLower 8.089 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079608 211679 1515 47.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GP1BB Platelet distribution width (30110) EFO_0007984 2.5300000000000003e-21 2.53 -21 "" 0.933 1.42 1.177 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 52.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC1R Skin colour - Very fair (1717) EFO_0003784 5.39e-19 5.39 -19 3.343 oddsRatioConfidenceIntervalLower 4.361 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 92.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKLR Haemoglobin concentration (30020) EFO_0004509 5.06e-25 5.06 -25 "" -0.123 -0.083 -0.103 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 5721.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.43e-128 2.43 -128 "" -2.53 -2.149 -2.339 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 98.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPATA33 Ease of skin tanning - Get very tanned (1727) EFO_0007009 1.58e-12 1.58 -12 1.289 oddsRatioConfidenceIntervalLower 1.384 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 1179.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK Glucose (30740) EFO_0004468 2.18e-15 2.18 -15 "" 0.839 1.389 1.114 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 47.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN HF (RGC) EFO_0003144 3.62e-23 3.62 -23 4.453 oddsRatioConfidenceIntervalLower 5.983 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081485 387050 8159 73.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" TET2 Platelet distribution width (30110) EFO_0007984 4.3700000000000004e-32 4.37 -32 "" 0.208 0.291 0.249 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1794.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HMCN1 Sitting height (20015) EFO_0011011 1.34e-12 1.34 -12 "" 0.103 0.181 0.142 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1111.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.43e-128 2.43 -128 "" -2.53 -2.149 -2.339 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 98.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC34A3 Phosphate (30810) EFO_0010968 4.52e-14 4.52 -14 "" -0.262 -0.154 -0.208 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 1156.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLCO1B3 Total bilirubin (30840) EFO_0004570 3.9299999999999995e-67 3.93 -67 "" 0.245 0.307 0.276 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 2522.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MLH1 ICD10 C18.0: Malignant neoplasm of cecum MONDO_0002033 1e-11 10.0 -12 75.885 oddsRatioConfidenceIntervalLower 263.978 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079577 387929 774 7.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RRBP1 LDL direct (30780) EFO_0004611 2.57e-18 2.57 -18 "" -0.667 -0.422 -0.545 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 221.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NPR2 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 2.11e-17 2.11 -17 "" -0.223 -0.14 -0.182 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 311.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN HF (RGC) EFO_0003144 1.95e-21 1.95 -21 2.085 oddsRatioConfidenceIntervalLower 2.425 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081485 387050 8159 226.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RTEL1 Mean reticulocyte volume (30260) EFO_0010701 1.21e-13 1.21 -13 "" 0.272 0.468 0.37 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 336.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GPLD1 Alkaline phosphatase (30610) EFO_0004533 1.02e-18 1.02 -18 "" -0.996 -0.634 -0.815 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8544 8544 116.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MLH1 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 2.41e-21 2.41 -21 16.623 oddsRatioConfidenceIntervalLower 29.712 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 31.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ABCA1 Cholesterol (30690) EFO_0004574 8.79e-15 8.79 -15 "" -0.338 -0.202 -0.27 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 695.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MYO6 Hearing difficulty problems - Yes (2247) EFO_0007616 2.07e-16 2.07 -16 1.891 oddsRatioConfidenceIntervalLower 2.202 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 313.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TMPRSS6 Mean corpuscular volume (30040) EFO_0004526 6.12e-25 6.12 -25 "" -0.543 -0.37 -0.457 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 400.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SMPD2 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.11e-13 2.11 -13 "" 0.091 0.157 0.124 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3001.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CRP C reactive protein (30710) EFO_0004458 9.23e-13 9.23 -13 "" -0.835 -0.475 -0.655 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9815 9815 101.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LRP5 Heel bone mineral density BMD (3148) EFO_0009270 6.71e-14 6.71 -14 "" -0.763 -0.447 -0.605 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 120.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK Glycated haemoglobin HbA1c (30750) EFO_0004541 2.76e-68 2.76 -68 "" 1.023 1.282 1.153 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 176.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LPL Triglycerides (30870) EFO_0004530 8.44e-19 8.44 -19 "" 0.539 0.845 0.692 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 134.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC45A2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 5.82e-51 5.82 -51 2.456 oddsRatioConfidenceIntervalLower 2.761 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 526.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" AMPD3 Reticulocyte percentage (30240) EFO_0010700 3.01e-14 3.01 -14 "" -0.084 -0.049 -0.066 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 11795.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 3mm strong meridian left (5135) EFO_0004731 8.1800000000000005e-22 8.18 -22 "" 0.446 0.675 0.561 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079301 103531 103531 236.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TSHR Non cancer illness code self reported - hypothyroidism myxoedema/ICD10 E03 EFO_0004705 2.52e-13 2.52 -13 3.018 oddsRatioConfidenceIntervalLower 4.057 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077731 329052 18362 71.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CSF2RB Eosinophil count (30150) EFO_0004842 2.98e-35 2.98 -35 "" -0.524 -0.381 -0.452 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 642.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A5 Total bilirubin (30840) EFO_0004570 2.7799999999999997e-52 2.78 -52 "" 0.385 0.498 0.442 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1019.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PAPPA2 Leg predicted mass right (23114) EFO_0004302 2.25e-12 2.25 -12 "" -0.117 -0.066 -0.091 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 2008.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PDE3B Seated height (51) EFO_0011011 4.09e-15 4.09 -15 "" 0.092 0.154 0.123 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 2097.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 C50: Malignant neoplasm of breast EFO_0003869 3.19e-28 3.19 -28 5.718 oddsRatioConfidenceIntervalLower 7.797 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 76.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC22A2 Creatinine (30700) EFO_0004518 3.31e-33 3.31 -33 "" 0.166 0.231 0.198 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 2104.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R Standing height (50) EFO_0004339 1.57e-19 1.57 -19 "" -0.165 -0.106 -0.135 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1508.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TYK2 Neutrophil percentage (30200) EFO_0007990 9.9e-13 9.9 -13 "" -0.098 -0.056 -0.077 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 7855.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC1R Skin colour - Light olive (1717) EFO_0003784 1.37e-158 1.37 -158 0.301 oddsRatioConfidenceIntervalLower 0.329 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 423.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BAK1 Platelet count (30080) EFO_0004309 2.58e-16 2.58 -16 "" 0.25 0.407 0.328 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 475.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Haemoglobin concentration (30020) EFO_0004509 4.27e-13 4.27 -13 "" -0.164 -0.094 -0.129 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1779.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SH2B3 Platelet crit (30090) EFO_0007985 8.34e-83 8.34 -83 "" 0.336 0.412 0.374 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 2047.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MIP ICD10 H26.9: Unspecified cataract MONDO_0005129 1.62e-23 1.62 -23 11.651 oddsRatioConfidenceIntervalLower 18.857 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079892 387427 17761 38.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PAPPA2 Leg fat free mass right (23113) EFO_0004995 2.74e-12 2.74 -12 "" -0.117 -0.066 -0.092 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 2008.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PDE3B HDL cholesterol (30760) EFO_0004612 9.73e-56 9.73 -56 "" 0.264 0.339 0.301 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1852.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 Reticulocyte percentage (30240) EFO_0010700 2.64e-27 2.64 -27 "" 0.928 1.339 1.134 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 81.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R TAG Obesity (RGC) EFO_0001073 6.22e-13 6.22 -13 4.512 oddsRatioConfidenceIntervalLower 6.802 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081522 246639 104086 86.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 Sitting height (20015) EFO_0011011 2.81e-12 2.81 -12 "" 0.111 0.197 0.154 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 906.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" EGLN1 Haemoglobin concentration (30020) EFO_0004509 2.52e-15 2.52 -15 "" 0.484 0.802 0.643 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 85.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.63e-13 1.63 -13 "" 1.45 2.499 1.975 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 14.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL4A4 ICD10 R31: Hematuria HP_0000790 5.83e-59 5.83 -59 6.075 oddsRatioConfidenceIntervalLower 7.558 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080842 383009 19710 153.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHD2 ICD10 C91: Lymphoid leukemia EFO_0004289 1.08e-11 1.08 -11 10.317 oddsRatioConfidenceIntervalLower 20.224 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 16.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASXL1 Ever smoked - Yes (20160) EFO_0006527 5.94e-14 5.94 -14 1.822 oddsRatioConfidenceIntervalLower 2.131 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078324 429301 263214 660.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANKRD12 Neutrophil percentage (30200) EFO_0007990 2.79e-16 2.79 -16 "" 0.333 0.543 0.438 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 312.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CSF3R Neutrophil count (30140) EFO_0004833 2.28e-17 2.28 -17 "" 0.133 0.213 0.173 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 2141.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PROS1 ICD10 I26: Pulmonary embolism EFO_0003827 8.19e-12 8.19 -12 2.771 oddsRatioConfidenceIntervalLower 3.712 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079984 387206 5221 63.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" E2F4 Mean sphered cell volume (30270) EFO_0004526 1.64e-15 1.64 -15 "" 1.112 1.838 1.475 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 24.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" C2CD4A IGF 1 (30770) EFO_0004627 4.390000000000001e-37 4.39 -37 "" -0.197 -0.144 -0.171 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 4447.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RTEL1 Mean reticulocyte volume (30260) EFO_0010701 1.21e-13 1.21 -13 "" 0.272 0.468 0.37 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 336.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CALR Platelet count (30080) EFO_0004309 4.04e-20 4.04 -20 "" 0.332 0.512 0.422 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 361.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Leg predicted mass left (23118) EFO_0004302 7.850000000000001e-27 7.85 -27 "" 0.094 0.135 0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 3011.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 1.44e-31 1.44 -31 2.36 oddsRatioConfidenceIntervalLower 2.726 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 262.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Eosinophil count (30150) EFO_0004842 4.24e-57 4.24 -57 "" -0.39 -0.305 -0.348 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 1791.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF1R Whole body fat free mass (23101) EFO_0004995 1.36e-14 1.36 -14 "" -0.646 -0.384 -0.515 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 71.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ACO1 Haemoglobin concentration (30020) EFO_0004509 4.09e-24 4.09 -24 "" 0.305 0.451 0.378 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 403.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Trunk fat mass (23128) EFO_0005409 1.75e-19 1.75 -19 "" 0.191 0.297 0.244 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078931 423433 423433 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CETP Apolipoprotein A (30630) EFO_0004732 9.46e-51 9.46 -51 "" 0.587 0.764 0.676 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 361.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBA2 Red blood cell erythrocyte count (30010) EFO_0004305 1.07e-12 1.07 -12 "" 0.646 1.137 0.892 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 39.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NRK Sitting height (20015) EFO_0011011 1.37e-11 1.37 -11 "" 0.21 0.382 0.296 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 148.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Leg fat free mass right (23113) EFO_0004995 1.72e-12 1.72 -12 "" 0.311 0.549 0.43 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 92.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" EGLN1 Red blood cell erythrocyte count (30010) EFO_0004305 9.16e-13 9.16 -13 "" 0.441 0.775 0.608 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 85.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SHBG SHBG (30830) EFO_0004696 1.19e-49 1.19 -49 "" -1.301 -0.997 -1.149 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 120.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 6.53e-227 6.53 -227 "" -3.038 -2.689 -2.863 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 98.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PTPRJ Trunk fat free mass (23129) EFO_0004995 1.57e-11 1.57 -11 "" -0.276 -0.152 -0.214 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 316.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PTPRJ Mean platelet thrombocyte volume (30100) EFO_0004584 7.23e-25 7.23 -25 "" -0.581 -0.395 -0.488 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 317.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.07e-15 5.07 -15 "" 1.412 2.356 1.884 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 21.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" KLF1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 1.62e-13 1.62 -13 "" -0.481 -0.279 -0.38 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 348.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Basal metabolic rate (23105) EFO_0007777 3.56e-17 3.56 -17 "" -0.928 -0.578 -0.753 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 44.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" MC4R Whole body fat free mass (23101) EFO_0004995 7.020000000000001e-26 7.02 -26 "" 0.139 0.203 0.171 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 1199.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APC Non cancer illness code self reported - rectal or colon adenoma polyps/ICD10 D12 EFO_1000633 6.84e-16 6.84 -16 40.879 oddsRatioConfidenceIntervalLower 100.629 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077868 329052 1492 12.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TNFRSF13B Red blood cell erythrocyte count (30010) EFO_0004305 3.11e-20 3.11 -20 "" 0.067 0.104 0.086 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 7149.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SIX6 MeanSphericalEquivalent started wearing glasses contacts before 40 (RGC) EFO_0004731 7.35e-19 7.35 -19 "" -0.377 -0.24 -0.308 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081498 48482 48482 717.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PTPRJ Trunk fat free mass (23129) EFO_0004995 1.57e-11 1.57 -11 "" -0.276 -0.152 -0.214 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 316.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 9.03e-20 9.03 -20 "" -2.552 -1.648 -2.1 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 21.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC4A1 Total bilirubin (30840) EFO_0004570 1.2200000000000002e-27 1.22 -27 "" 1.14 1.641 1.391 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 38.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Haematocrit percentage (30030) EFO_0004348 2.71e-55 2.71 -55 "" -1.374 -1.068 -1.221 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 98.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Arm fat free mass right (23121) EFO_0004995 5.14e-20 5.14 -20 "" -0.082 -0.053 -0.068 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 5844.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R TAG Obesity (RGC) EFO_0001073 6.22e-13 6.22 -13 4.512 oddsRatioConfidenceIntervalLower 6.802 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081522 246639 104086 86.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A1 Direct bilirubin (30660) EFO_0004570 4.58e-43 4.58 -43 "" 0.324 0.432 0.378 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1103.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SRSF2 ICD10 A41.9: Sepsis, unspecified organism HP_0100806 1.99e-19 1.99 -19 11.6 oddsRatioConfidenceIntervalLower 19.766 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079545 387517 4673 28.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK Glycated haemoglobin HbA1c (30750) EFO_0004541 1.75e-82 1.75 -82 "" 0.72 0.883 0.802 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 442.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PIEZO1 Standing height (50) EFO_0004339 4.1700000000000006e-21 4.17 -21 "" -0.165 -0.108 -0.136 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1587.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APOB Aspartate aminotransferase (30650) EFO_0004736 3.05e-18 3.05 -18 "" 0.233 0.368 0.3 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 697.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RHAG Mean sphered cell volume (30270) EFO_0004526 1.29e-43 1.29 -43 "" -1.017 -0.765 -0.891 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 203.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK Glucose (30740) EFO_0004468 2.18e-15 2.18 -15 "" 0.839 1.389 1.114 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 47.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UBR2 Leg fat percentage right (23111) EFO_0007800 4.12e-12 4.12 -12 "" 0.245 0.438 0.341 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078914 423666 423666 141.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLCO1B3 Direct bilirubin (30660) EFO_0004570 9.56e-19 9.56 -19 "" 0.237 0.373 0.305 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 566.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R Arm predicted mass left (23126) EFO_0004302 6.87e-17 6.87 -17 "" -0.187 -0.116 -0.152 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 995.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ATR Mean corpuscular volume (30040) EFO_0004526 3.06e-14 3.06 -14 "" -0.311 -0.184 -0.247 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 737.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NOTCH1 Type of Cancer: Lymphoid leukemia (40006) EFO_0004289 5.93e-25 5.93 -25 361.99 oddsRatioConfidenceIntervalLower 1108.67 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079125 74230 699 14.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CREB3L3 HDL cholesterol (30760) EFO_0004612 1.02e-12 1.02 -12 "" -0.317 -0.18 -0.249 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 554.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LRP2 Creatinine (30700) EFO_0004518 1.07e-35 1.07 -35 "" -0.112 -0.082 -0.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 9778.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GP1BA Platelet distribution width (30110) EFO_0007984 1.4e-32 1.4 -32 "" 0.667 0.931 0.799 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 178.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" KLHDC7B Hearing difficulty problems - Yes (2247) EFO_0007616 4.21e-28 4.21 -28 1.962 oddsRatioConfidenceIntervalLower 2.212 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 511.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 6.48e-86 6.48 -86 "" -2.278 -1.865 -2.071 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9690 9690 99.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LRP2 Cystatin C (30720) EFO_0004617 2.04e-27 2.04 -27 "" -0.089 -0.062 -0.075 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 14559.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 Self Report - breast cancer (20001) EFO_0000305 5.05e-14 5.05 -14 4.909 oddsRatioConfidenceIntervalLower 7.427 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077626 39614 10070 81.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Hand grip strength left (46) EFO_0006941 6.26e-15 6.26 -15 "" -0.126 -0.076 -0.101 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 2693.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN ICD10 I34.0: Nonrheumatic mitral (valve) insufficiency EFO_0009557 1.02e-11 1.02 -11 3.022 oddsRatioConfidenceIntervalLower 4.157 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079991 387332 2987 54.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GCK Non cancer illness code self reported - type 2 diabetes MONDO_0005148 1.46e-14 1.46 -14 15.428 oddsRatioConfidenceIntervalLower 30.983 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077724 331754 3497 17.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PAPPA2 Whole body fat free mass (23101) EFO_0004995 3.75e-14 3.75 -14 "" -0.12 -0.071 -0.096 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 2008.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Forced vital capacity FVC (3062) EFO_0004312 1.93e-15 1.93 -15 "" 0.076 0.125 0.1 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 2825.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CRP C reactive protein (30710) EFO_0004458 4.33e-51 4.33 -51 "" -0.719 -0.553 -0.636 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079026 411229 411229 499.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTA1 Reticulocyte percentage (30240) EFO_0010700 1.83e-45 1.83 -45 "" 0.667 0.882 0.775 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 299.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 Type of Cancer: Malignant neoplasm of breast of unspecified site (40006) EFO_0003869 1.34e-13 1.34 -13 2.76 oddsRatioConfidenceIntervalLower 3.61 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079107 41005 5931 94.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYR Hair colour natural before greying - Blonde (1747) EFO_0007822 3.48e-13 3.48 -13 2.472 oddsRatioConfidenceIntervalLower 3.155 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 107.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACAN Sitting height (20015) EFO_0011011 8.8e-48 8.8 -48 "" -1.365 -1.041 -1.203 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 64.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HSPA9 Red blood cell erythrocyte distribution width (30070) EFO_0009188 4.22e-17 4.22 -17 "" 0.663 1.067 0.865 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 81.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOB Apolipoprotein B (30640) EFO_0004615 7.39e-54 7.39 -54 "" -0.254 -0.197 -0.226 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 4112.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PALB2 ICD10 C77.3: Secondary and unspecified malignant neoplasm of axilla and upper limb lymph nodes MONDO_0024339 1.15e-12 1.15 -12 6.013 oddsRatioConfidenceIntervalLower 9.859 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079618 387930 2725 27.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 3.62e-14 3.62 -14 7.643 oddsRatioConfidenceIntervalLower 12.936 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 28.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LIPC Apolipoprotein A (30630) EFO_0004732 4.9200000000000005e-110 4.92 -110 "" 0.3 0.358 0.329 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 3349.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KLF1 Red blood cell erythrocyte count (30010) EFO_0004305 4.21e-13 4.21 -13 "" 0.222 0.387 0.304 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 348.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" DHCR7 Vitamin D (30890) EFO_0004631 1.88e-11 1.88 -11 "" 0.122 0.222 0.172 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 1400.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN HF (RGC) EFO_0003144 3.12e-34 3.12 -34 3.368 oddsRatioConfidenceIntervalLower 4.094 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081485 387050 8159 156.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC1R Skin colour - Very fair (1717) EFO_0003784 5.39e-19 5.39 -19 3.343 oddsRatioConfidenceIntervalLower 4.361 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 92.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PDE3B Sitting height (20015) EFO_0011011 5.290000000000001e-21 5.29 -21 "" 0.108 0.164 0.136 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 2097.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Sitting height (20015) EFO_0011011 2.3700000000000002e-36 2.37 -36 "" -1.454 -1.062 -1.258 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 44.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" IFRD2 High light scatter reticulocyte count (30300) EFO_0007986 1.8599999999999998e-101 1.86 -101 "" 0.363 0.436 0.399 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 2475.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NF1 Non cancer illness code self reported - other neurological problem EFO_0000618 1.1e-36 1.1 -36 28.641 oddsRatioConfidenceIntervalLower 48.164 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077842 331754 1794 35.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Leg fat mass left (23116) EFO_0005409 2.34e-13 2.34 -13 "" 0.282 0.487 0.385 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078919 423640 423640 197.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Trunk fat percentage (23127) EFO_0004324 2.12e-11 2.12 -11 "" 0.117 0.213 0.165 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078930 423451 423451 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SCUBE3 Whole body water mass (23102) EFO_0009805 1.27e-15 1.27 -15 "" -0.162 -0.098 -0.13 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 1216.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PCSK9 Apolipoprotein B (30640) EFO_0004615 5.16e-162 5.16 -162 "" -1.062 -0.919 -0.99 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 635.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MPL Platelet crit (30090) EFO_0007985 7.690000000000001e-27 7.69 -27 "" 0.335 0.485 0.41 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 527.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CST3 Cystatin C (30720) EFO_0004617 2.2300000000000002e-307 2.23 -307 "" -3.015 -2.817 -2.916 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 282.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 SHBG (30830) EFO_0004696 1.37e-15 1.37 -15 "" 0.161 0.266 0.214 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 1009.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RASA3 Lymphocyte count (30120) EFO_0004587 2.58e-14 2.58 -14 "" -0.559 -0.33 -0.444 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 257.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MYBPC3 ICD10 I42: Cardiomyopathy EFO_0000318 4.31e-18 4.31 -18 41.169 oddsRatioConfidenceIntervalLower 95.4 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 14.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" COL1A1 Non cancer illness code self reported - bone disorder EFO_0004260 8.28e-13 8.28 -13 35.735 oddsRatioConfidenceIntervalLower 95.157 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077769 331754 988 10.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" ANK1 Mean sphered cell volume (30270) EFO_0004526 5.43e-12 5.43 -12 "" -0.155 -0.086 -0.121 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 2732.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PAPPA2 Basal metabolic rate (23105) EFO_0007777 1.14e-11 1.14 -11 "" -0.116 -0.064 -0.09 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 2008.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - simvastatin EFO_0007010 2.89e-13 2.89 -13 1.642 oddsRatioConfidenceIntervalLower 1.876 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078009 320758 51781 340.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FBN1 ICD10 I71: Aortic aneurysm and dissection EFO_0001666 1.05e-18 1.05 -18 21.695 oddsRatioConfidenceIntervalLower 42.953 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080048 387517 2104 19.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" TTN Non cancer illness code self reported - atrial fibrillation EFO_0000275 2e-15 2.0 -15 2.33 oddsRatioConfidenceIntervalLower 2.871 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077881 331754 3921 120.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC22A12 Urate (30880) EFO_0004531 2.2300000000000002e-307 2.23 -307 "" -1.277 -1.17 -1.224 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 834.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MEPE Heel Broadband ultrasound attenuation direct entry (3144) EFO_0004514 3.77e-32 3.77 -32 "" -0.363 -0.26 -0.311 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079049 246304 246304 1108.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MEPE Heel bone mineral density BMD T score automated left (4106) EFO_0009270 4.68e-24 4.68 -24 "" -0.419 -0.283 -0.351 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079153 166283 166283 651.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ALB Total protein (30860) EFO_0004536 8.28e-38 8.28 -38 "" -1.208 -0.889 -1.049 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 134.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SCUBE3 Sitting height (20015) EFO_0011011 2.26e-21 2.26 -21 "" -0.333 -0.219 -0.276 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 526.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SRSF2 ICD10 D69.6: Thrombocytopenia, unspecified HP_0001873 2.92e-22 2.92 -22 23.614 oddsRatioConfidenceIntervalLower 44.724 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079714 387579 1788 22.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RUNX1 Platelet count (30080) EFO_0004309 1.11e-13 1.11 -13 "" -1.598 -0.931 -1.265 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 26.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCG2 Urate (30880) EFO_0004531 1.98e-28 1.98 -28 "" 0.141 0.202 0.171 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 2748.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Sitting height (20015) EFO_0011011 2.3700000000000002e-36 2.37 -36 "" -1.454 -1.062 -1.258 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 44.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" CHD2 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 2.9e-17 2.9 -17 68.464 oddsRatioConfidenceIntervalLower 182.462 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 11.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RHAG High light scatter reticulocyte count (30300) EFO_0007986 5.050000000000001e-27 5.05 -27 "" 0.386 0.557 0.471 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 450.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOB Vitamin D (30890) EFO_0004631 3.39e-14 3.39 -14 "" 0.167 0.284 0.226 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 1017.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGF1R Arm fat free mass right (23121) EFO_0004995 4.86e-18 4.86 -18 "" -0.25 -0.157 -0.204 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 568.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Waist circumference (48) EFO_0004342 3.3e-13 3.3 -13 "" 0.314 0.545 0.429 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079228 430261 430261 202.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Pulse rate (4194) EFO_0004326 6.85e-14 6.85 -14 "" 0.112 0.191 0.151 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079160 173103 173103 2342.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANK1 Mean sphered cell volume (30270) EFO_0004526 8.51e-15 8.51 -15 "" -0.799 -0.477 -0.638 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 123.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Body fat percentage (23099) EFO_0007800 1.41e-15 1.41 -15 "" 0.139 0.23 0.185 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078903 423464 423464 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A3 Total bilirubin (30840) EFO_0004570 1.95e-11 1.95 -11 "" 0.294 0.536 0.415 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 224.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" R3HDM4 High light scatter reticulocyte percentage (30290) EFO_0010700 4.99e-12 4.99 -12 "" 0.345 0.618 0.481 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 181.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A8 Direct bilirubin (30660) EFO_0004570 3.08e-33 3.08 -33 "" 0.272 0.379 0.326 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1136.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Arm predicted mass left (23126) EFO_0004302 3.37e-13 3.37 -13 "" 0.243 0.422 0.333 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 157.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACAN Comparative height size at age 10 - Shorter (1697) EFO_0004339 1.05e-16 1.05 -16 9.674 oddsRatioConfidenceIntervalLower 16.533 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 42.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" THBS4 Impedance of whole body (23106) HP_0000924 2.09e-14 2.09 -14 "" -0.085 -0.05 -0.068 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 6442.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC34A1 Creatinine (30700) EFO_0004518 3.2e-15 3.2 -15 "" 0.061 0.101 0.081 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 5424.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MYOC Non cancer illness code self reported - glaucoma/ICD10 H40 EFO_0000516 8.72e-13 8.72 -13 2.948 oddsRatioConfidenceIntervalLower 3.965 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077755 329052 4377 63.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCA1 Cholesterol (30690) EFO_0004574 5.82e-14 5.82 -14 "" -0.495 -0.29 -0.393 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 307.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" PDZK1 Urate (30880) EFO_0004531 9.809999999999999e-48 9.81 -48 "" -0.618 -0.471 -0.545 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 437.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PTPRH Platelet crit (30090) EFO_0007985 1.07e-20 1.07 -20 "" -0.248 -0.162 -0.205 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 1583.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 4.5300000000000004e-26 4.53 -26 5.542 oddsRatioConfidenceIntervalLower 7.615 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 71.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TET2 ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 7.38e-18 7.38 -18 4.677 oddsRatioConfidenceIntervalLower 6.646 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 50.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TMCC2 Mean platelet thrombocyte volume (30100) EFO_0004584 9.55e-13 9.55 -13 "" -0.236 -0.134 -0.185 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1090.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PCSK9 LipidLowering Med (RGC) EFO_0007010 2.14e-16 2.14 -16 0.317 oddsRatioConfidenceIntervalLower 0.417 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 47.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" OBSCN Impedance of arm left (23110) HP_0000924 1.26e-14 1.26 -14 "" -0.087 -0.052 -0.069 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 5454.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HMCN1 FEV1 FVC ratio Z score (20258) EFO_0004713 9.47e-47 9.47 -47 "" 0.391 0.515 0.453 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 909.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APC Non cancer illness code self reported - rectal or colon adenoma polyps/ICD10 D12 EFO_1000633 6.84e-16 6.84 -16 40.879 oddsRatioConfidenceIntervalLower 100.629 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077868 329052 1492 12.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Arm predicted mass left (23126) EFO_0004302 1.86e-18 1.86 -18 "" -0.773 -0.49 -0.631 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 63.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TUBB1 Platelet distribution width (30110) EFO_0007984 2.2300000000000002e-307 2.23 -307 "" 0.472 0.513 0.492 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 7839.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Platelet count (30080) EFO_0004309 1.45e-18 1.45 -18 "" -0.24 -0.152 -0.196 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1532.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SMAD6 6mm weak meridian right (5098) EFO_0004731 3.3e-16 3.3 -16 "" 0.569 0.928 0.749 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 95.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TP53 ICD10 C91: Lymphoid leukemia EFO_0004289 2.99e-14 2.99 -14 13.885 oddsRatioConfidenceIntervalLower 27.368 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 17.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCB4 ICD10 K80: Cholelithiasis EFO_0004799 9.86e-14 9.86 -14 3.119 oddsRatioConfidenceIntervalLower 4.209 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080297 385441 17665 66.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CSF2RB Eosinophil percentage (30210) EFO_0007991 5.3700000000000004e-36 5.37 -36 "" -0.535 -0.39 -0.463 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 642.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 N18.9: Chronic kidney disease, unspecified EFO_0003884 9.25e-36 9.25 -36 19.717 oddsRatioConfidenceIntervalLower 31.488 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080583 387930 3916 41.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 3mm strong meridian left (5135) EFO_0004731 1.04e-17 1.04 -17 "" 0.303 0.483 0.393 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079301 103531 103531 384.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 1.04e-103 1.04 -103 "" -2.306 -1.922 -2.114 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FCGRT Total protein (30860) EFO_0004536 1.56e-15 1.56 -15 "" -1.92 -1.162 -1.541 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 24.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 1.79e-14 1.79 -14 "" -2.921 -1.731 -2.326 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 10.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" APOB Direct bilirubin (30660) EFO_0004570 2.07e-44 2.07 -44 "" 0.431 0.571 0.501 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 649.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Arm predicted mass left (23126) EFO_0004302 2.96e-60 2.96 -60 "" 0.101 0.129 0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 6709.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TFR2 Mean corpuscular haemoglobin (30050) EFO_0004527 6.44e-14 6.44 -14 "" 0.259 0.442 0.35 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 356.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANO5 Alanine aminotransferase (30620) EFO_0004735 1.41e-18 1.41 -18 "" 0.091 0.142 0.116 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 4643.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KLF1 Mean corpuscular volume (30040) EFO_0004526 7.32e-19 7.32 -19 "" -1.574 -1.004 -1.289 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 37.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGF1R Whole body fat free mass (23101) EFO_0004995 1.31e-22 1.31 -22 "" -0.21 -0.14 -0.175 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 995.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OCA2 Ease of skin tanning - Get very tanned (1727) EFO_0007009 4.49e-62 4.49 -62 0.424 oddsRatioConfidenceIntervalLower 0.469 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 373.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GNB1 Mean corpuscular volume (30040) EFO_0004526 4.42e-12 4.42 -12 "" -0.45 -0.252 -0.351 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 304.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" OR51V1 Mean corpuscular volume (30040) EFO_0004526 6.47e-19 6.47 -19 "" -1.218 -0.778 -0.998 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 83.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.11e-11 1.11 -11 "" 1.319 2.39 1.855 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Reticulocyte count (30250) EFO_0007986 9.63e-12 9.63 -12 "" -0.239 -0.132 -0.186 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1165.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MEPE Heel Broadband ultrasound attenuation direct entry (3144) EFO_0004514 2.15e-12 2.15 -12 "" -0.329 -0.185 -0.257 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079049 246304 246304 576.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 ICD10 D63.165.8: Anemia in chronic kidney disease EFO_0004272 4.84e-13 4.84 -13 36.773 oddsRatioConfidenceIntervalLower 97.712 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079710 387885 936 10.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" SPHK1 Reticulocyte percentage (30240) EFO_0010700 1.7600000000000002e-26 1.76 -26 "" -0.154 -0.106 -0.13 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 5990.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GIGYF1 Townsend deprivation index at recruitment (189) EFO_0009711 5.13e-13 5.13 -13 "" 0.406 0.708 0.557 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077617 430494 430494 158.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MIP Non cancer illness code self reported - cataract/ICD10 H26 MONDO_0005129 1.92e-13 1.92 -13 16.147 oddsRatioConfidenceIntervalLower 33.887 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077757 329052 7792 16.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TSHR Non cancer illness code self reported - hypothyroidism myxoedema EFO_0004705 1.04e-18 1.04 -18 3.398 oddsRatioConfidenceIntervalLower 4.457 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 90.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" E2F4 Mean reticulocyte volume (30260) EFO_0010701 3.57e-17 3.57 -17 "" 1.207 1.938 1.573 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 24.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 corneal power (RGC) EFO_0004731 3.85e-19 3.85 -19 "" 0.595 0.93 0.763 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081537 103531 103531 109.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A9 Total bilirubin (30840) EFO_0004570 6.58e-74 6.58 -74 "" 0.466 0.578 0.522 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1041.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SPTA1 High light scatter reticulocyte count (30300) EFO_0007986 5.36e-31 5.36 -31 "" 0.469 0.66 0.564 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 365.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GCK Glycated haemoglobin HbA1c (30750) EFO_0004541 1.43e-28 1.43 -28 "" 1.078 1.541 1.309 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 55.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Arm predicted mass left (23126) EFO_0004302 2.8100000000000003e-21 2.81 -21 "" -0.099 -0.065 -0.082 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 4403.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MLH1 ICD10 Z08: Encounter for follow-up examination after completed treatment for malignant neoplasm EFO_0004542 4.6899999999999996e-24 4.69 -24 44.898 oddsRatioConfidenceIntervalLower 93.83 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081200 387917 6079 20.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ATM ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 1.59e-11 1.59 -11 2.681 oddsRatioConfidenceIntervalLower 3.571 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 68.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PPARG HDL cholesterol (30760) EFO_0004612 3.51e-15 3.51 -15 "" -0.493 -0.296 -0.394 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 267.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Body mass index BMI (23104) EFO_0004340 1.02e-28 1.02 -28 "" 0.277 0.396 0.337 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078907 423694 423694 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CLEC10A SHBG (30830) EFO_0004696 7.3e-19 7.3 -19 "" -0.467 -0.298 -0.382 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 389.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC4A1 High light scatter reticulocyte percentage (30290) EFO_0010700 1.37e-31 1.37 -31 "" 1.477 2.072 1.775 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 38.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 ICD10 C78.7: Secondary malignant neoplasm of liver and intrahepatic bile duct EFO_0009812 2.13e-11 2.13 -11 3.451 oddsRatioConfidenceIntervalLower 4.96 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079624 387930 3748 43.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Reticulocyte count (30250) EFO_0007986 5.870000000000001e-26 5.87 -26 "" 0.814 1.186 1.0 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 96.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A7 Total bilirubin (30840) EFO_0004570 3.35e-36 3.35 -36 "" 0.261 0.357 0.309 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1419.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Whole body fat free mass (23101) EFO_0004995 1.04e-14 1.04 -14 "" 0.223 0.375 0.299 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 213.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PALB2 Illnesses of mother - Breast cancer (20110) EFO_0009640 4.42e-14 4.42 -14 1.747 oddsRatioConfidenceIntervalLower 2.02 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 244.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TADA1 Platelet count (30080) EFO_0004309 2.17e-13 2.17 -13 "" -0.443 -0.256 -0.35 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 339.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHTF18 Mean corpuscular volume (30040) EFO_0004526 3.3e-12 3.3 -12 "" 0.054 0.096 0.075 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 6785.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RTEL1 Mean corpuscular volume (30040) EFO_0004526 1.75e-20 1.75 -20 "" 0.165 0.254 0.21 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1520.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ITGB3 Platelet crit (30090) EFO_0007985 1.23e-12 1.23 -12 "" -0.218 -0.123 -0.17 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 1329.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IL33 Atopy CC (RGC) EFO_0002686 7.47e-13 7.47 -13 0.699 oddsRatioConfidenceIntervalLower 0.771 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081463 359926 46691 415.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Arm fat free mass right (23121) EFO_0004995 8.73e-25 8.73 -25 "" 0.117 0.172 0.145 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 1594.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBA2 Mean corpuscular haemoglobin (30050) EFO_0004527 2.2e-17 2.2 -17 "" -0.357 -0.223 -0.29 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1039.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Trunk fat free mass (23129) EFO_0004995 4.15e-18 4.15 -18 "" -0.904 -0.571 -0.737 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 44.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" SCUBE3 Sitting height (20015) EFO_0011011 3.0499999999999998e-24 3.05 -24 "" -0.23 -0.155 -0.193 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1235.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Arm fat free mass left (23125) EFO_0004995 1.23e-22 1.23 -22 "" -0.103 -0.068 -0.086 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 4403.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CCR2 Monocyte count (30130) EFO_0005091 5.34e-15 5.34 -15 "" -0.267 -0.16 -0.213 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 1084.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 7.760000000000001e-35 7.76 -35 8.631 oddsRatioConfidenceIntervalLower 12.163 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 62.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Comparative height size at age 10 - Shorter (1697) EFO_0004339 4.05e-15 4.05 -15 13.459 oddsRatioConfidenceIntervalLower 25.75 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 32.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" CXCR4 Neutrophil count (30140) EFO_0004833 6.29e-19 6.29 -19 "" 0.351 0.55 0.45 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 345.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCA1 Apolipoprotein A (30630) EFO_0004732 6.64e-287 6.64 -287 "" -0.408 -0.366 -0.387 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 6367.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCM2 Calcium (30680) EFO_0004838 1.11e-17 1.11 -17 "" 0.17 0.27 0.22 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 1383.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Platelet count (30080) EFO_0004309 1.45e-11 1.45 -11 "" -0.139 -0.076 -0.108 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 2991.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYRP1 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 2.09e-11 2.09 -11 2.242 oddsRatioConfidenceIntervalLower 2.84 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 127.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Reticulocyte percentage (30240) EFO_0010700 1.49e-12 1.49 -12 "" 0.182 0.321 0.252 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 701.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" BRCA2 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 1.9000000000000002e-36 1.9 -36 7.115 oddsRatioConfidenceIntervalLower 9.652 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 76.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BAK1 Platelet count (30080) EFO_0004309 1.23e-15 1.23 -15 "" 0.303 0.499 0.401 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 304.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN ICD10 I34.0: Nonrheumatic mitral (valve) insufficiency EFO_0009557 8.28e-12 8.28 -12 4.722 oddsRatioConfidenceIntervalLower 7.37 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079991 387332 2987 31.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" UGT1A1 Total bilirubin (30840) EFO_0004570 1.2300000000000001e-36 1.23 -36 "" 0.708 0.968 0.838 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 195.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PIEZO1 Glycated haemoglobin HbA1c (30750) EFO_0004541 3.18e-17 3.18 -17 "" -0.135 -0.084 -0.11 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 4553.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" DKK1 Sitting height (20015) EFO_0011011 9.68e-12 9.68 -12 "" -0.104 -0.057 -0.08 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 3140.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GHRH IGF 1 (30770) EFO_0004627 1.52e-20 1.52 -20 "" -0.845 -0.551 -0.698 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 141.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CETP HDL cholesterol (30760) EFO_0004612 6.560000000000001e-103 6.56 -103 "" 0.596 0.715 0.656 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 761.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANGPTL4 Triglycerides (30870) EFO_0004530 3.3999999999999997e-35 3.4 -35 "" -0.408 -0.296 -0.352 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 1005.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NF1 ICD10 D36: Benign neoplasm of other and unspecified sites EFO_0002422 5.21e-47 5.21 -47 61.223 oddsRatioConfidenceIntervalLower 107.185 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079695 387660 899 34.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LRP2 Creatinine (30700) EFO_0004518 4.0000000000000003e-28 4.0 -28 "" -0.524 -0.365 -0.445 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 351.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GHRH Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 7.47e-13 7.47 -13 "" -0.45 -0.257 -0.354 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 58.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GP1BB Platelet count (30080) EFO_0004309 2.85e-44 2.85 -44 "" -1.92 -1.447 -1.683 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 52.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Sitting height (20015) EFO_0011011 5.25e-13 5.25 -13 "" -0.118 -0.067 -0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 2702.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MLH1 ICD10 Z08.0: Follow-up examination after surgery for malignant neoplasm (Z08.0) EFO_0004542 2.1599999999999998e-23 2.16 -23 53.37 oddsRatioConfidenceIntervalLower 116.683 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081197 387930 4711 18.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CA1 Mean reticulocyte volume (30260) EFO_0010701 1.18e-12 1.18 -12 "" -0.345 -0.196 -0.27 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 582.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Trunk predicted mass (23130) EFO_0004324 4.69e-73 4.69 -73 "" 0.111 0.138 0.125 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 6707.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z92.6: Personal history of chemotherapy for neoplastic disease EFO_0000352 6.75e-13 6.75 -13 4.935 oddsRatioConfidenceIntervalLower 7.629 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081409 387930 4641 33.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC30A10 Aspartate aminotransferase (30650) EFO_0004736 2.2e-26 2.2 -26 "" 0.223 0.324 0.274 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 1255.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 1.6400000000000001e-31 1.64 -31 10.009 oddsRatioConfidenceIntervalLower 14.733 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 61.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SMAD6 6mm weak meridian right (5098) EFO_0004731 1.17e-16 1.17 -16 "" 0.301 0.488 0.394 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 354.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK Glucose (30740) EFO_0004468 1.1999999999999999e-46 1.2 -46 "" 0.604 0.795 0.7 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 390.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACVRL1 ICD10 R04.0: Epistaxis EFO_0003895 1.12e-11 1.12 -11 36.284 oddsRatioConfidenceIntervalLower 102.305 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080761 385081 3559 9.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL1A1 Non cancer illness code self reported - bone disorder/ICD10 M85 EFO_0004260 1.2e-12 1.2 -12 67.485 oddsRatioConfidenceIntervalLower 215.665 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077770 329052 841 9.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOA5 HDL cholesterol (30760) EFO_0004612 1.52e-12 1.52 -12 "" -0.568 -0.321 -0.445 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 171.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MSTN Creatinine (30700) EFO_0004518 9.12e-14 9.12 -14 "" 0.079 0.135 0.107 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 2785.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB Cholesterol (30690) EFO_0004574 2.2300000000000002e-307 2.23 -307 "" -1.505 -1.368 -1.436 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 700.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK Non cancer illness code self reported - type 2 diabetes MONDO_0005148 6.57e-14 6.57 -14 7.953 oddsRatioConfidenceIntervalLower 13.676 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077724 331754 3497 24.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A10 Total bilirubin (30840) EFO_0004570 5.9599999999999995e-53 5.96 -53 "" 0.404 0.522 0.463 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 932.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MFRP SphericalEquivalent r (RGC) EFO_0004731 2.06e-11 2.06 -11 "" 0.18 0.328 0.254 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081512 107475 107475 608.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR ICD10 E78: Disorders of lipoprotein metabolism and other lipidemias Orphanet_79062 1.2500000000000001e-70 1.25 -70 3.023 oddsRatioConfidenceIntervalLower 3.416 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079768 372199 51365 490.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KIAA1109 Mean platelet thrombocyte volume (30100) EFO_0004584 4.3600000000000006e-21 4.36 -21 "" -0.344 -0.226 -0.285 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 773.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Neutrophil count (30140) EFO_0004833 1.44e-18 1.44 -18 "" -0.24 -0.152 -0.196 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 1791.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TYRP1 Skin colour - Light olive (1717) EFO_0003784 4.04e-19 4.04 -19 0.489 oddsRatioConfidenceIntervalLower 0.572 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 165.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GBGT1 Alkaline phosphatase (30610) EFO_0004533 4.57e-17 4.57 -17 "" -0.099 -0.062 -0.081 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 8930.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" DDR2 Standing height (50) EFO_0004339 3.19e-18 3.19 -18 "" -0.144 -0.091 -0.118 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1860.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GP1BA Platelet count (30080) EFO_0004309 2.4699999999999998e-46 2.47 -46 "" -0.472 -0.358 -0.415 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 900.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TNFSF13 Total protein (30860) EFO_0004536 1.42e-13 1.42 -13 "" -0.815 -0.473 -0.644 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 118.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Eosinophil percentage (30210) EFO_0007991 3.3300000000000004e-47 3.33 -47 "" -0.392 -0.298 -0.345 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 1529.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" JAK2 High light scatter reticulocyte count (30300) EFO_0007986 1.51e-15 1.51 -15 "" 0.12 0.198 0.159 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 2136.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKLR Reticulocyte percentage (30240) EFO_0010700 6.12e-53 6.12 -53 "" 0.17 0.219 0.195 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 5624.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IFRD2 Immature reticulocyte fraction (30280) EFO_0010700 9.390000000000001e-70 9.39 -70 "" 0.301 0.376 0.339 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 2475.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FGFR3 Standing height (50) EFO_0004339 7.01e-20 7.01 -20 "" -0.152 -0.099 -0.125 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1779.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" COL4A4 Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 2.89e-20 2.89 -20 "" 0.615 0.947 0.781 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 128.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LCORL Sitting height (20015) EFO_0011011 5.31e-18 5.31 -18 "" 0.35 0.555 0.452 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 161.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FCGRT Albumin (30600) EFO_0004535 8.809999999999999e-38 8.81 -38 "" -1.625 -1.194 -1.41 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 74.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PKD1 ICD10 Q61: Cystic kidney disease EFO_0008615 1.55e-93 1.55 -93 16.964 oddsRatioConfidenceIntervalLower 22.233 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 113.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R TAG Obesity (RGC) EFO_0001073 6.22e-13 6.22 -13 4.512 oddsRatioConfidenceIntervalLower 6.802 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081522 246639 104086 86.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PTPRH Platelet count (30080) EFO_0004309 5.1699999999999996e-30 5.17 -30 "" -0.191 -0.135 -0.163 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 3746.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TFR2 Mean corpuscular volume (30040) EFO_0004526 1.09e-27 1.09 -27 "" 0.136 0.195 0.166 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 3379.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 Illnesses of siblings - Breast cancer (20111) EFO_0009640 6.1e-14 6.1 -14 2.284 oddsRatioConfidenceIntervalLower 2.833 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 115.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" G6PC Creatinine (30700) EFO_0004518 5.25e-14 5.25 -14 "" -0.188 -0.11 -0.149 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 1452.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RNF20 Mean corpuscular haemoglobin (30050) EFO_0004527 5.63e-13 5.63 -13 "" -0.527 -0.302 -0.414 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 235.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CCR2 Monocyte count (30130) EFO_0005091 5.34e-15 5.34 -15 "" -0.267 -0.16 -0.213 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 1084.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MFSD2B Platelet crit (30090) EFO_0007985 8.32e-30 8.32 -30 "" -0.162 -0.114 -0.138 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 5851.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANGPTL7 Corneal resistance factor left (5265) EFO_0010067 4.52e-12 4.52 -12 "" -0.195 -0.109 -0.152 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079340 105697 105697 1861.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Haematocrit percentage (30030) EFO_0004348 1.48e-13 1.48 -13 "" -1.653 -0.96 -1.307 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 19.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CYP2R1 Vitamin D (30890) EFO_0004631 5.6e-15 5.6 -15 "" -0.61 -0.365 -0.488 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 234.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CALR ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 4.54e-16 4.54 -16 36.256 oddsRatioConfidenceIntervalLower 86.224 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 13.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CD36 Red blood cell erythrocyte distribution width (30070) EFO_0009188 3.76e-22 3.76 -22 "" 0.178 0.268 0.223 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1621.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IL33 AllergicDiseaseCases vs AllergicDiseaseControls (RGC) MONDO_0005271 3.62e-20 3.62 -20 0.683 oddsRatioConfidenceIntervalLower 0.741 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081451 354024 73382 664.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Eosinophil percentage (30210) EFO_0007991 7.090000000000001e-26 7.09 -26 "" -0.438 -0.3 -0.369 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 708.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" NR1H4 Testosterone (30850) EFO_0004908 1.23e-15 1.23 -15 "" -0.08 -0.049 -0.064 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079042 373826 373826 5475.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NR1I3 Direct bilirubin (30660) EFO_0004570 2.76e-13 2.76 -13 "" 0.146 0.253 0.199 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 887.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" DOCK5 Platelet distribution width (30110) EFO_0007984 3.97e-12 3.97 -12 "" -0.382 -0.214 -0.298 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 433.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GFI1B Platelet count (30080) EFO_0004309 2.3800000000000001e-26 2.38 -26 "" -1.007 -0.693 -0.85 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 143.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TRIM10 Reticulocyte count (30250) EFO_0007986 3.64e-12 3.64 -12 "" -0.263 -0.147 -0.205 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 994.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Comparative height size at age 10 - Taller (1697) EFO_0004339 2.51e-16 2.51 -16 2.132 oddsRatioConfidenceIntervalLower 2.555 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 238.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" WNT1 Heel bone mineral density BMD T score automated right (4125) EFO_0009270 1.64e-12 1.64 -12 "" -0.613 -0.347 -0.48 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079159 166358 166358 167.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLCN ICD10 J93: Pneumothorax and air leak MONDO_0002076 3.42e-17 3.42 -17 18.78 oddsRatioConfidenceIntervalLower 37.136 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080153 387375 1190 18.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PCSK9 LDL direct (30780) EFO_0004611 2.88e-13 2.88 -13 "" -1.348 -0.777 -1.063 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 41.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" PCSK9 Cholesterol (30690) EFO_0004574 2.64e-25 2.64 -25 "" -0.781 -0.533 -0.657 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8543 8543 226.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CYR61 Impedance of arm left (23110) HP_0000924 2.05e-12 2.05 -12 "" 0.038 0.068 0.053 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 7640.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MSH2 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 2.49e-13 2.49 -13 4.163 oddsRatioConfidenceIntervalLower 6.1 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 43.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 Past tobacco smoking - Smoked on most or all days (1249) EFO_0005671 4.71e-15 4.71 -15 1.686 oddsRatioConfidenceIntervalLower 1.922 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077585 397089 109016 461.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR Cholesterol lowering medication (6177) EFO_0007010 7.8e-20 7.8 -20 3.421 oddsRatioConfidenceIntervalLower 4.457 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079486 69473 49091 374.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS3 Impedance of whole body (23106) HP_0000924 1.47e-16 1.47 -16 "" -0.291 -0.179 -0.235 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 614.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TET2 Monocyte percentage (30190) EFO_0007989 8.010000000000001e-31 8.01 -31 "" 0.205 0.289 0.247 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 1777.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MLH1 ICD10 C18: Malignant neoplasm of colon EFO_1001950 2.31e-13 2.31 -13 13.068 oddsRatioConfidenceIntervalLower 25.984 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079581 387657 3899 17.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PIEZO1 Red blood cell erythrocyte count (30010) EFO_0004305 6.57e-12 6.57 -12 "" -0.233 -0.13 -0.181 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 879.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ENG ICD10 I78: Diseases of capillaries EFO_0004264 9.640000000000001e-27 9.64 -27 212.772 oddsRatioConfidenceIntervalLower 567.713 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 14.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGFALS IGF 1 (30770) EFO_0004627 1.79e-47 1.79 -47 "" -0.812 -0.618 -0.715 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 328.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" KDM5B Duration to first press of snap button in each round (404) EFO_0008354 1.13e-13 1.13 -13 "" 0.157 0.269 0.213 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079143 428085 428085 1015.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IRS1 Standing height (50) EFO_0004339 7.94e-25 7.94 -25 "" -0.593 -0.403 -0.498 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 145.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Standing height (50) EFO_0004339 3.14e-24 3.14 -24 "" 0.352 0.52 0.436 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 181.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" ADAMTS17 Standing height (50) EFO_0004339 7.7e-41 7.7 -41 "" -0.445 -0.332 -0.389 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 399.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OCA2 Hair colour natural before greying - Blonde (1747) EFO_0007822 2.3799999999999998e-45 2.38 -45 7.065 oddsRatioConfidenceIntervalLower 9.266 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 123.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CEBPE Eosinophil count (30150) EFO_0004842 2.06e-18 2.06 -18 "" -0.119 -0.075 -0.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 6983.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PPARG HDL cholesterol (30760) EFO_0004612 3.56e-19 3.56 -19 "" -0.786 -0.504 -0.645 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 129.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ZFAT Arm fat free mass right (23121) EFO_0004995 3.15e-13 3.15 -13 "" 0.311 0.541 0.426 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 92.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SF3B1 Mean corpuscular haemoglobin (30050) EFO_0004527 4.3e-20 4.3 -20 "" 0.321 0.495 0.408 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 394.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GFI1B Platelet count (30080) EFO_0004309 2.42e-19 2.42 -19 "" -0.192 -0.123 -0.158 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 2574.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB ICD10 E78: Disorders of lipoprotein metabolism and other lipidemias Orphanet_79062 4.42e-15 4.42 -15 0.29 oddsRatioConfidenceIntervalLower 0.396 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079768 372199 51365 30.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" G6PC Urate (30880) EFO_0004531 1.18e-12 1.18 -12 "" 0.106 0.186 0.146 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 1451.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Trunk fat mass (23128) EFO_0005409 3.32e-14 3.32 -14 "" 0.065 0.11 0.087 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078931 423433 423433 6708.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Reticulocyte count (30250) EFO_0007986 2.48e-16 2.48 -16 "" -0.211 -0.129 -0.17 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 2012.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZNF770 SHBG (30830) EFO_0004696 1.47e-13 1.47 -13 "" 0.326 0.561 0.443 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 189.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Leg fat mass right (23112) EFO_0005409 8.989999999999999e-28 8.99 -28 "" 0.219 0.314 0.266 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078915 423659 423659 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 1.79e-32 1.79 -32 4.067 oddsRatioConfidenceIntervalLower 5.128 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 112.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC45A2 Skin colour - Very fair (1717) EFO_0003784 4.4e-67 4.4 -67 2.547 oddsRatioConfidenceIntervalLower 2.831 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 554.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Arm fat free mass left (23125) EFO_0004995 1.73e-13 1.73 -13 "" 0.194 0.335 0.264 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 257.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Reticulocyte count (30250) EFO_0007986 7.53e-13 7.53 -13 "" 0.498 0.872 0.685 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9692 9692 99.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Whole body fat free mass (23101) EFO_0004995 3.0200000000000002e-22 3.02 -22 "" -0.827 -0.549 -0.688 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 63.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APC ICD10 D12: Benign neoplasm of colon, rectum, anus and anal canal EFO_0002422 5.3700000000000004e-27 5.37 -27 15.03 oddsRatioConfidenceIntervalLower 24.623 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079662 387680 16948 38.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FLG ICD10 L20: Atopic dermatitis EFO_0000274 1.57e-16 1.57 -16 2.006 oddsRatioConfidenceIntervalLower 2.367 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080337 378953 2972 179.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IL33 ChildhoodAsthmaCases vs AllergicDiseaseControls (RGC) MONDO_0005405 4.21e-13 4.21 -13 0.542 oddsRatioConfidenceIntervalLower 0.639 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081473 297425 16952 121.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL4A4 Urate (30880) EFO_0004531 1.02e-14 1.02 -14 "" 0.173 0.291 0.232 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 683.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APEH Haemoglobin concentration (30020) EFO_0004509 7.11e-17 7.11 -17 "" -0.281 -0.174 -0.227 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 754.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" DGKD Total bilirubin (30840) EFO_0004570 1.55e-16 1.55 -16 "" -0.156 -0.096 -0.126 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 3718.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Leg predicted mass right (23114) EFO_0004302 1.08e-28 1.08 -28 "" 0.154 0.219 0.186 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPTB ICD10 D73: Diseases of spleen EFO_0009002 2.3e-14 2.3 -14 48.833 oddsRatioConfidenceIntervalLower 132.537 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079718 387896 692 10.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLNB Standing height (50) EFO_0004339 4.4e-12 4.4 -12 "" -0.236 -0.132 -0.184 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 476.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ABCC3 Direct bilirubin (30660) EFO_0004570 1.62e-12 1.62 -12 "" -0.068 -0.039 -0.053 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 11964.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TNFRSF10B Gamma glutamyltransferase (30730) EFO_0004532 4.44e-12 4.44 -12 "" 0.125 0.224 0.174 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1165.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Reticulocyte count (30250) EFO_0007986 5.870000000000001e-26 5.87 -26 "" 0.814 1.186 1.0 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 96.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z51: Encounter for other aftercare and medical care EFO_0004542 8.25e-20 8.25 -20 2.147 oddsRatioConfidenceIntervalLower 2.531 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081286 383746 34913 208.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FES Non cancer illness code self reported - hypertension EFO_0000537 7.53e-13 7.53 -13 1.547 oddsRatioConfidenceIntervalLower 1.743 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077645 331754 115454 543.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CLDN10 Cystatin C (30720) EFO_0004617 1.08e-32 1.08 -32 "" 0.338 0.471 0.404 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 581.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCB11 Alkaline phosphatase (30610) EFO_0004533 1.45e-29 1.45 -29 "" 0.3 0.427 0.364 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 750.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 2.5599999999999998e-23 2.56 -23 5.967 oddsRatioConfidenceIntervalLower 8.484 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 54.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK Glucose (30740) EFO_0004468 9.12e-75 9.12 -75 "" 0.902 1.119 1.011 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 304.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ATP11C Glycated haemoglobin HbA1c (30750) EFO_0004541 7.97e-15 7.97 -15 "" -0.836 -0.499 -0.667 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 70.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ABCB4 Alanine aminotransferase (30620) EFO_0004735 2.28e-16 2.28 -16 "" 0.409 0.666 0.538 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 188.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GCK T2D (RGC) MONDO_0005148 1.02e-26 1.02 -26 26.578 oddsRatioConfidenceIntervalLower 48.468 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 35.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OCA2 Ease of skin tanning - Get mildly or occasionally tanned (1727) EFO_0007009 3.8e-25 3.8 -25 1.514 oddsRatioConfidenceIntervalLower 1.638 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077604 422570 93163 983.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPTA1 Mean reticulocyte volume (30260) EFO_0010701 8.79e-12 8.79 -12 "" -0.879 -0.487 -0.683 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 85.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" PKHD1 Creatinine (30700) EFO_0004518 6.17e-13 6.17 -13 "" -0.095 -0.055 -0.075 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 5325.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Monocyte percentage (30190) EFO_0007989 6.8400000000000005e-31 6.84 -31 "" 0.221 0.312 0.267 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 1529.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CLSPN Mean sphered cell volume (30270) EFO_0004526 8.87e-12 8.87 -12 "" 0.258 0.466 0.362 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 295.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean reticulocyte volume (30260) EFO_0010701 4.76e-47 4.76 -47 "" -1.529 -1.163 -1.346 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 96.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 7.49e-43 7.49 -43 4.08 oddsRatioConfidenceIntervalLower 4.987 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 155.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PALB2 Illnesses of mother - Breast cancer (20110) EFO_0009640 9.87e-21 9.87 -21 2.595 oddsRatioConfidenceIntervalLower 3.17 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 146.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RHAG High light scatter reticulocyte percentage (30290) EFO_0010700 1.9800000000000003e-27 1.98 -27 "" 0.585 0.843 0.714 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 203.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SHBG Testosterone (30850) EFO_0004908 5.34e-49 5.34 -49 "" -0.325 -0.248 -0.287 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079042 373826 373826 936.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Arm fat free mass right (23121) EFO_0004995 1.8800000000000002e-27 1.88 -27 "" -0.109 -0.076 -0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 4403.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GMPR Mean corpuscular haemoglobin (30050) EFO_0004527 1.01e-16 1.01 -16 "" 0.204 0.33 0.267 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 779.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CLDN10 Urea (30670) EFO_0009795 1.69e-17 1.69 -17 "" 0.25 0.399 0.324 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 582.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC2A9 Urate (30880) EFO_0004531 4.3500000000000003e-26 4.35 -26 "" -0.922 -0.634 -0.778 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9833 9833 135.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDZK1 Urate (30880) EFO_0004531 9.809999999999999e-48 9.81 -48 "" -0.618 -0.471 -0.545 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 437.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" THBS4 Impedance of arm right (23109) HP_0000924 1.15e-17 1.15 -17 "" -0.086 -0.054 -0.07 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 6441.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OCA2 Skin colour - Light olive (1717) EFO_0003784 1.44e-15 1.44 -15 0.161 oddsRatioConfidenceIntervalLower 0.253 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 12.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SMAD6 6mm strong meridian right (5133) EFO_0004731 9.67e-20 9.67 -20 "" 0.653 1.011 0.832 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079299 90887 90887 95.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.59e-14 1.59 -14 "" 1.326 2.235 1.781 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EGLN2 Haematocrit percentage (30030) EFO_0004348 1.66e-17 1.66 -17 "" 0.154 0.247 0.201 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1072.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MEPE Heel broadband ultrasound attenuation right (4120) EFO_0004514 5.83e-20 5.83 -20 "" -0.379 -0.245 -0.312 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079155 166349 166349 653.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GHRH Standing height (50) EFO_0004339 2.19e-20 2.19 -20 "" -0.535 -0.348 -0.441 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 146.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" WNT1 Heel bone mineral density BMD left (4105) EFO_0009270 1.52e-13 1.52 -13 "" -0.644 -0.374 -0.509 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079152 166186 166186 164.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 1.55e-29 1.55 -29 13.396 oddsRatioConfidenceIntervalLower 21.023 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 43.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RASA2 Lymphocyte percentage (30180) EFO_0007993 5.51e-14 5.51 -14 "" -0.494 -0.29 -0.392 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 318.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MEPE Heel bone mineral density BMD T score automated right (4125) EFO_0009270 7.599999999999999e-24 7.6 -24 "" -0.414 -0.279 -0.346 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079159 166358 166358 653.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 2.95e-45 2.95 -45 6.87 oddsRatioConfidenceIntervalLower 8.978 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 96.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS3 Impedance of arm right (23109) HP_0000924 3.98e-15 3.98 -15 "" -0.26 -0.156 -0.208 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 614.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLCO1B1 Total bilirubin (30840) EFO_0004570 5.52e-40 5.52 -40 "" 0.303 0.408 0.355 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 886.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 1.7300000000000001e-29 1.73 -29 4.808 oddsRatioConfidenceIntervalLower 6.317 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 88.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CNNM3 Standing height (50) EFO_0004339 7.39e-12 7.39 -12 "" 0.094 0.17 0.132 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 917.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHEK2 Mean corpuscular haemoglobin (30050) EFO_0004527 1.71e-16 1.71 -16 "" -0.172 -0.106 -0.139 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 2756.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MEN1 ICD10 E21.3: Hyperparathyroidism, unspecified EFO_0008506 4.85e-12 4.85 -12 298.59 oddsRatioConfidenceIntervalLower 1503.59 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079752 387820 512 5.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BAK1 Platelet crit (30090) EFO_0007985 1.02e-15 1.02 -15 "" 0.244 0.402 0.323 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 475.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MEPE Heel Broadband ultrasound attenuation direct entry (3144) EFO_0004514 4.04e-34 4.04 -34 "" -0.395 -0.286 -0.34 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079049 246304 246304 985.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EPB41 High light scatter reticulocyte percentage (30290) EFO_0010700 2.1e-12 2.1 -12 "" 0.442 0.784 0.613 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 116.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LDLR ICD10 E78.0: Pure hypercholesterolemia HP_0003124 4.85e-12 4.85 -12 2.869 oddsRatioConfidenceIntervalLower 3.868 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079766 378271 45730 77.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NPR2 Sitting height (20015) EFO_0011011 1.21e-15 1.21 -15 "" -0.333 -0.202 -0.267 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 394.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" THPO Platelet crit (30090) EFO_0007985 2e-32 2.0 -32 "" -1.562 -1.119 -1.34 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 60.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Trunk fat mass (23128) EFO_0005409 4.51e-20 4.51 -20 "" 0.221 0.341 0.281 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078931 423433 423433 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APC ICD10 D12: Benign neoplasm of colon, rectum, anus and anal canal EFO_0002422 5.3700000000000004e-27 5.37 -27 15.03 oddsRatioConfidenceIntervalLower 24.623 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079662 387680 16948 38.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHTF18 Mean corpuscular haemoglobin (30050) EFO_0004527 2.79e-18 2.79 -18 "" 0.193 0.305 0.249 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 959.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GIGYF1 Apolipoprotein B (30640) EFO_0004615 2.94e-14 2.94 -14 "" -0.707 -0.417 -0.562 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 152.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CHD2 Lymphocyte percentage (30180) EFO_0007993 1.21e-13 1.21 -13 "" 0.791 1.36 1.076 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 41.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" ZFAT Trunk predicted mass (23130) EFO_0004324 3.81e-13 3.81 -13 "" 0.484 0.841 0.663 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 38.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" ACO1 Haemoglobin concentration (30020) EFO_0004509 3.58e-32 3.58 -32 "" 0.137 0.191 0.164 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 2911.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TG ICD10 E03.9: Hypothyroidism, unspecified EFO_0004705 1.07e-12 1.07 -12 1.991 oddsRatioConfidenceIntervalLower 2.407 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079721 385358 19694 147.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Non cancer illness code self reported - high cholesterol HP_0003124 2.01e-83 2.01 -83 3.578 oddsRatioConfidenceIntervalLower 4.071 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 484.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" A1CF Gamma glutamyltransferase (30730) EFO_0004532 2.27e-12 2.27 -12 "" 0.355 0.63 0.493 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 150.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HNF4A SHBG (30830) EFO_0004696 3.1199999999999998e-30 3.12 -30 "" -0.456 -0.323 -0.39 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 582.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOB Vitamin D (30890) EFO_0004631 1.12e-25 1.12 -25 "" 0.166 0.242 0.204 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 2396.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A1 Direct bilirubin (30660) EFO_0004570 6.69e-50 6.69 -50 "" 0.415 0.541 0.478 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 805.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IQGAP2 Total protein (30860) EFO_0004536 6.11e-12 6.11 -12 "" -0.169 -0.094 -0.131 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 2469.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IQGAP2 Mean platelet thrombocyte volume (30100) EFO_0004584 7.83e-143 7.83 -143 "" 0.304 0.355 0.329 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 4323.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Whole body water mass (23102) EFO_0009805 1.77e-16 1.77 -16 "" 0.221 0.36 0.291 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 257.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR ICD10 I25.9: Chronic ischemic heart disease, unspecified EFO_0003777 1.2e-12 1.2 -12 3.739 oddsRatioConfidenceIntervalLower 5.379 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079981 386241 17106 49.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ADAMTS3 Impedance of arm right (23109) HP_0000924 4.27e-25 4.27 -25 "" -0.109 -0.074 -0.092 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 5509.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z51.5: Encounter for palliative care EFO_0004542 6.6e-17 6.6 -17 3.629 oddsRatioConfidenceIntervalLower 4.91 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081283 387892 5496 64.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EGLN1 Haematocrit percentage (30030) EFO_0004348 1.03e-14 1.03 -14 "" 0.484 0.812 0.648 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 85.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PROS1 ICD10 I26.9: Pulmonary embolism without acute cor pulmonale MONDO_0004596 5.6e-16 5.6 -16 6.081 oddsRatioConfidenceIntervalLower 9.414 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079983 387510 5096 35.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC12A9 Hair colour natural before greying - Blonde (1747) EFO_0007822 2.17e-15 2.17 -15 2.848 oddsRatioConfidenceIntervalLower 3.689 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 104.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RTEL1 Red blood cell erythrocyte count (30010) EFO_0004305 4.95e-14 4.95 -14 "" -0.403 -0.236 -0.32 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 339.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LRP2 Creatinine (30700) EFO_0004518 1.07e-20 1.07 -20 "" -0.382 -0.249 -0.316 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 502.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Monocyte percentage (30190) EFO_0007989 5.2200000000000005e-31 5.22 -31 "" 0.223 0.314 0.268 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 1515.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TUBB1 Mean platelet thrombocyte volume (30100) EFO_0004584 4.99e-92 4.99 -92 "" 0.177 0.214 0.195 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 7842.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 3.35e-31 3.35 -31 4.781 oddsRatioConfidenceIntervalLower 6.226 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 96.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ALAS2 Mean corpuscular volume (30040) EFO_0004526 5.95e-13 5.95 -13 "" -0.401 -0.229 -0.315 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 225.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PALB2 Illnesses of mother - Breast cancer (20110) EFO_0009640 9.87e-21 9.87 -21 2.595 oddsRatioConfidenceIntervalLower 3.17 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 146.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SH2B3 White blood cell leukocyte count (30000) EFO_0004308 4.53e-43 4.53 -43 "" 0.183 0.244 0.213 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 3695.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Forced vital capacity FVC Best measure (20151) EFO_0004312 8.7e-15 8.7 -15 "" -0.144 -0.086 -0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078317 322002 322002 2001.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GNB1 Neutrophil percentage (30200) EFO_0007990 2.37e-17 2.37 -17 "" 0.354 0.567 0.461 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 304.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL6A1 Corneal resistance factor left (5265) EFO_0010067 2.4000000000000002e-30 2.4 -30 "" -1.483 -1.05 -1.266 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079340 105697 105697 73.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PAPPA2 Trunk predicted mass (23130) EFO_0004324 3.19e-14 3.19 -14 "" -0.12 -0.071 -0.096 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 2007.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RHAG High light scatter reticulocyte percentage (30290) EFO_0010700 1.13e-16 1.13 -16 "" 0.163 0.264 0.213 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1330.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OCA2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 6.63e-114 6.63 -114 0.396 oddsRatioConfidenceIntervalLower 0.429 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 741.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGFALS Leg predicted mass left (23118) EFO_0004302 2.08e-13 2.08 -13 "" -0.123 -0.071 -0.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 1957.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Neutrophil count (30140) EFO_0004833 9.78e-17 9.78 -17 "" -0.248 -0.153 -0.2 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 1529.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SMAD6 6mm strong meridian right (5133) EFO_0004731 9.67e-20 9.67 -20 "" 0.653 1.011 0.832 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079299 90887 90887 95.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MSH6 Type of Cancer: Malignant neoplasm of endometrium (40006) MONDO_0011962 3.21e-18 3.21 -18 19.567 oddsRatioConfidenceIntervalLower 38.227 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079109 41005 1536 23.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" OR51V1 Red blood cell erythrocyte count (30010) EFO_0004305 4.74e-14 4.74 -14 "" 0.581 0.989 0.785 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 83.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYR Hair colour natural before greying - Dark brown (1747) EFO_0007822 3.15e-16 3.15 -16 0.802 oddsRatioConfidenceIntervalLower 0.846 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 2441.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 Z99: Dependence on enabling machines and devices, not elsewhere classified EFO_0002571 5.390000000000001e-29 5.39 -29 16.379 oddsRatioConfidenceIntervalLower 26.745 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081445 385473 3699 35.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PAPPA2 Whole body water mass (23102) EFO_0009805 2.18e-14 2.18 -14 "" -0.122 -0.072 -0.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 2008.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" DNMT3A Platelet crit (30090) EFO_0007985 2.71e-13 2.71 -13 "" 0.066 0.115 0.09 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 5081.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CST3 Cystatin C (30720) EFO_0004617 2.2300000000000002e-307 2.23 -307 "" -3.015 -2.817 -2.916 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 282.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ALB Calcium (30680) EFO_0004838 1.51e-34 1.51 -34 "" -0.404 -0.293 -0.348 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 1128.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC6A19 Creatinine (30700) EFO_0004518 1.01e-14 1.01 -14 "" -0.123 -0.074 -0.098 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 3558.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PAPPA2 Standing height (50) EFO_0004339 3.13e-12 3.13 -12 "" -0.128 -0.072 -0.1 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1655.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ARHGAP10 Mean platelet thrombocyte volume (30100) EFO_0004584 4.8e-15 4.8 -15 "" 0.124 0.206 0.165 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1593.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SCUBE3 Leg predicted mass left (23118) EFO_0004302 1.05e-12 1.05 -12 "" -0.153 -0.087 -0.12 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 1216.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TRIM10 High light scatter reticulocyte count (30300) EFO_0007986 7.45e-12 7.45 -12 "" -0.26 -0.144 -0.202 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 993.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" COL6A1 Corneal resistance factor right (5257) EFO_0010067 3.24e-30 3.24 -30 "" -1.453 -1.028 -1.24 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079336 105888 105888 75.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS3 Standing height (50) EFO_0004339 2.06e-25 2.06 -25 "" -0.096 -0.066 -0.081 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 5598.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Platelet distribution width (30110) EFO_0007984 8.95e-17 8.95 -17 "" 0.213 0.345 0.279 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 711.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" ZFAT Arm predicted mass right (23122) EFO_0004302 2.6400000000000002e-36 2.64 -36 "" 0.108 0.148 0.128 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 3011.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 ICD10 Z99: Dependence on enabling machines and devices, not elsewhere classified EFO_0002571 5.390000000000001e-29 5.39 -29 16.379 oddsRatioConfidenceIntervalLower 26.745 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081445 385473 3699 35.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LCORL Whole body water mass (23102) EFO_0009805 1.07e-15 1.07 -15 "" 0.273 0.45 0.362 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 157.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IFRD2 Reticulocyte count (30250) EFO_0007986 3.9400000000000003e-72 3.94 -72 "" 0.174 0.217 0.195 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 7385.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOA1 HDL cholesterol (30760) EFO_0004612 8.66e-16 8.66 -16 "" -1.119 -0.681 -0.9 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 54.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PCSK9 Non cancer illness code self reported - high cholesterol HP_0003124 2.25e-18 2.25 -18 0.228 oddsRatioConfidenceIntervalLower 0.318 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077883 331754 57365 24.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NF1 Non cancer illness code self reported - other neurological problem EFO_0000618 1.1e-36 1.1 -36 28.641 oddsRatioConfidenceIntervalLower 48.164 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077842 331754 1794 35.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYR Ease of skin tanning - Never tan only burn (1727) EFO_0007009 1.75e-22 1.75 -22 2.338 oddsRatioConfidenceIntervalLower 2.773 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 238.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SF3B1 Haematocrit percentage (30030) EFO_0004348 7.16e-13 7.16 -13 "" -0.356 -0.203 -0.28 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 394.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD1 Treatment or Medication Code - prednisolone EFO_0007010 2.88e-15 2.88 -15 12.131 oddsRatioConfidenceIntervalLower 22.54 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078076 320758 2671 20.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Impedance of whole body (23106) HP_0000924 5.87e-14 5.87 -14 "" 0.125 0.213 0.169 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 986.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" PCSK9 LDL direct (30780) EFO_0004611 1.33e-97 1.33 -97 "" -0.804 -0.667 -0.735 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 708.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ATP11C Glycated haemoglobin HbA1c (30750) EFO_0004541 1.45e-14 1.45 -14 "" -0.825 -0.49 -0.657 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 71.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CRISPLD1 Standing height (50) EFO_0004339 3.0999999999999997e-24 3.1 -24 "" -0.212 -0.144 -0.178 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 1084.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 ICD10 D70: Neutropenia MONDO_0001475 6.8e-19 6.8 -19 3.517 oddsRatioConfidenceIntervalLower 4.643 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079716 387075 4407 75.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYRP1 Hair colour natural before greying - Blonde (1747) EFO_0007822 6.16e-17 6.16 -17 3.086 oddsRatioConfidenceIntervalLower 4.018 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 103.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TBX5 Pulse rate (4194) EFO_0004326 4.4e-16 4.4 -16 "" 0.135 0.22 0.177 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079160 173103 173103 1989.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 2.76e-15 2.76 -15 1.673 oddsRatioConfidenceIntervalLower 1.9 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 300.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LPL HDL cholesterol (30760) EFO_0004612 5.4e-20 5.4 -20 "" -0.803 -0.52 -0.662 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 130.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HNF4A SHBG (30830) EFO_0004696 3.1199999999999998e-30 3.12 -30 "" -0.456 -0.323 -0.39 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 582.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 6.29e-14 6.29 -14 "" -2.502 -1.466 -1.984 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2108 2108 13.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TSHR Non cancer illness code self reported - hypothyroidism myxoedema/ICD10 E03 EFO_1001055 2.52e-13 2.52 -13 3.018 oddsRatioConfidenceIntervalLower 4.057 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077731 329052 18362 71.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CAD Red blood cell erythrocyte distribution width (30070) EFO_0009188 9.93e-13 9.93 -13 "" 0.146 0.257 0.202 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1068.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" FLG Age hay fever rhinitis or eczema diagnosed (3761) EFO_0003956 2.02e-12 2.02 -12 "" -0.289 -0.163 -0.226 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079072 88602 88602 880.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OBSCN Impedance of arm left (23110) HP_0000924 7.860000000000001e-21 7.86 -21 "" -0.07 -0.046 -0.058 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 11787.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Impedance of arm right (23109) HP_0000924 1.53e-41 1.53 -41 "" 0.148 0.198 0.173 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 2646.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LIPC Apolipoprotein A (30630) EFO_0004732 1.44e-35 1.44 -35 "" 0.382 0.525 0.454 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 547.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I42.0: Dilated cardiomyopathy EFO_0000407 4.3900000000000005e-50 4.39 -50 8.086 oddsRatioConfidenceIntervalLower 10.649 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079998 387930 858 93.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Leg fat mass left (23116) EFO_0005409 2.51e-24 2.51 -24 "" 0.175 0.258 0.217 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078919 423640 423640 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SH2B3 Platelet count (30080) EFO_0004309 2.35e-12 2.35 -12 "" 0.302 0.536 0.419 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 215.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SDPR Mean platelet thrombocyte volume (30100) EFO_0004584 2.27e-19 2.27 -19 "" -0.729 -0.468 -0.599 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 162.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NPC1 Mean sphered cell volume (30270) EFO_0004526 6.38e-13 6.38 -13 "" -0.169 -0.097 -0.133 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 2705.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CXCL2 Lymphocyte percentage (30180) EFO_0007993 6.76e-13 6.76 -13 "" 0.482 0.843 0.662 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 102.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PAPPA2 Basal metabolic rate (23105) EFO_0007777 1.14e-11 1.14 -11 "" -0.116 -0.064 -0.09 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 2008.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PPARG HDL cholesterol (30760) EFO_0004612 5.48e-12 5.48 -12 "" -0.928 -0.517 -0.722 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 61.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" GPLD1 Alkaline phosphatase (30610) EFO_0004533 1.93e-18 1.93 -18 "" -0.957 -0.607 -0.782 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8544 8544 124.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ALB Albumin (30600) EFO_0004535 4.0399999999999996e-55 4.04 -55 "" -0.494 -0.384 -0.439 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 1128.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Arm fat free mass right (23121) EFO_0004995 4.02e-12 4.02 -12 "" 0.199 0.355 0.277 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 197.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" COL1A1 Non cancer illness code self reported - bone disorder EFO_0004260 8.53e-17 8.53 -17 75.426 oddsRatioConfidenceIntervalLower 208.746 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077769 331754 988 12.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LRP5 Speed of sound through heel (3146) EFO_0005654 1.68e-13 1.68 -13 "" -0.762 -0.442 -0.602 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 120.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC22A12 Urate (30880) EFO_0004531 4.5299999999999993e-23 4.53 -23 "" -1.756 -1.175 -1.466 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 28.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" HBB Mean corpuscular volume (30040) EFO_0004526 5.16e-22 5.16 -22 "" -2.561 -1.696 -2.128 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 21.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 2.28e-22 2.28 -22 3.333 oddsRatioConfidenceIntervalLower 4.248 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 97.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADH1C Alkaline phosphatase (30610) EFO_0004533 8.3e-13 8.3 -13 "" -0.092 -0.052 -0.072 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 7707.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IFT140 ICD10 N28.1: Cyst of kidney, acquired EFO_0009690 1.16e-18 1.16 -18 8.24 oddsRatioConfidenceIntervalLower 13.166 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080592 387926 1824 32.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR ICD10 E78.0: Pure hypercholesterolemia HP_0003124 4.85e-12 4.85 -12 2.869 oddsRatioConfidenceIntervalLower 3.868 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079766 378271 45730 77.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SMAD6 Ankle spacing width right (4119) EFO_0004324 1.26e-13 1.26 -13 "" 0.363 0.623 0.493 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079154 166358 166358 151.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PROS1 VTE Composite CC (RGC) EFO_0004286 2.67e-15 2.67 -15 6.429 oddsRatioConfidenceIntervalLower 10.197 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081534 225913 5702 39.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 2.5100000000000004e-27 2.51 -27 2.785 oddsRatioConfidenceIntervalLower 3.352 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 167.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TERT Mean reticulocyte volume (30260) EFO_0010701 9.89e-15 9.89 -15 "" 0.336 0.563 0.45 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 247.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 White blood cell leukocyte count (30000) EFO_0004308 5.53e-18 5.53 -18 "" -0.236 -0.149 -0.192 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 1794.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" KLHDC7B Hearing difficulty problems background noise - Yes (2257) EFO_0007616 2.97e-18 2.97 -18 1.658 oddsRatioConfidenceIntervalLower 1.857 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078878 422872 167296 644.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANKRD12 Lymphocyte percentage (30180) EFO_0007993 3.81e-16 3.81 -16 "" -0.531 -0.325 -0.428 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 312.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" INSC Heel bone mineral density BMD T score automated left (4106) EFO_0009270 9.96e-12 9.96 -12 "" 0.061 0.11 0.085 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079153 166283 166283 5117.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLG AtopicDermatitis (RGC) EFO_0000274 2.26e-22 2.26 -22 1.765 oddsRatioConfidenceIntervalLower 1.98 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081462 276670 15131 388.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SBNO2 Lymphocyte count (30120) EFO_0004587 1.95e-14 1.95 -14 "" 0.137 0.231 0.184 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 1535.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD1 ICD10 Z94: Transplanted organ and tissue status EFO_0002571 1.06e-61 1.06 -61 57.077 oddsRatioConfidenceIntervalLower 92.078 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081418 387906 1305 47.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FLG Non cancer illness code self reported - asthma MONDO_0004979 1.08e-16 1.08 -16 1.244 oddsRatioConfidenceIntervalLower 1.31 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077671 331754 50973 1976.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EPB41 Mean sphered cell volume (30270) EFO_0004526 2.87e-22 2.87 -22 "" -0.992 -0.658 -0.825 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 116.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ABCA1 HDL cholesterol (30760) EFO_0004612 1.53e-41 1.53 -41 "" -1.561 -1.165 -1.363 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 66.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" APOB Triglycerides (30870) EFO_0004530 2.4199999999999998e-234 2.42 -234 "" -1.183 -1.049 -1.116 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 697.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOA5 Apolipoprotein A (30630) EFO_0004732 3.49e-12 3.49 -12 "" -0.279 -0.156 -0.218 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 734.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SCUBE3 Seated height (51) EFO_0011011 4.53e-19 4.53 -19 "" -0.341 -0.218 -0.28 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 526.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ACAN Trunk predicted mass (23130) EFO_0004324 2.18e-19 2.18 -19 "" -0.575 -0.369 -0.472 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 115.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GIGYF1 Hand grip strength left (46) EFO_0006941 3.14e-13 3.14 -13 "" -0.493 -0.284 -0.388 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 158.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 1.2e-19 1.2 -19 "" -2.36 -1.521 -1.941 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 18.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC4A1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.1e-15 2.1 -15 "" 0.918 1.52 1.219 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 39.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SMAD6 6mm strong meridian right (5133) EFO_0004731 4.6e-21 4.6 -21 "" 0.362 0.553 0.458 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079299 90887 90887 338.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZNF770 SHBG (30830) EFO_0004696 1.8e-18 1.8 -18 "" 0.62 0.976 0.798 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 82.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" DTL Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 9.98e-12 9.98 -12 "" -0.455 -0.252 -0.353 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 53.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB Alanine aminotransferase (30620) EFO_0004735 6.23e-18 6.23 -18 "" 0.227 0.36 0.293 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 700.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MLH1 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 2.88e-14 2.88 -14 2.99 oddsRatioConfidenceIntervalLower 3.965 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 70.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACO1 Haemoglobin concentration (30020) EFO_0004509 4.09e-24 4.09 -24 "" 0.305 0.451 0.378 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 403.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Ankle spacing width (3143) EFO_0004324 3.65e-19 3.65 -19 "" 0.136 0.212 0.174 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 1690.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Leg fat free mass right (23113) EFO_0004995 1.88e-14 1.88 -14 "" -0.847 -0.502 -0.674 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 44.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" NF1 Non cancer illness code self reported - other neurological problem EFO_0000618 1.16e-18 1.16 -18 4.457 oddsRatioConfidenceIntervalLower 6.212 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077842 331754 1794 55.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ALPL Calcium (30680) EFO_0004838 1.43e-13 1.43 -13 "" 0.124 0.213 0.169 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 1752.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PTPN11 Standing height (50) EFO_0004339 4.69e-15 4.69 -15 "" -0.308 -0.185 -0.247 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 340.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GCK T2D (RGC) MONDO_0005148 1.02e-12 1.02 -12 26.169 oddsRatioConfidenceIntervalLower 64.221 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 16.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" TG ICD10 E03.9: Hypothyroidism, unspecified EFO_0004705 1.07e-12 1.07 -12 1.991 oddsRatioConfidenceIntervalLower 2.407 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079721 385358 19694 147.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANGPTL7 corneal power (RGC) EFO_0004731 1.1e-13 1.1 -13 "" 0.114 0.196 0.155 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081537 103531 103531 1843.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" DTL Standing height (50) EFO_0004339 7.13e-19 7.13 -19 "" -0.616 -0.393 -0.505 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 105.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TFRC Mean corpuscular haemoglobin (30050) EFO_0004527 2.17e-15 2.17 -15 "" -0.959 -0.579 -0.769 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 83.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" GCK ICD10 E11.9: Type 2 diabetes mellitus without complications MONDO_0005148 1.96e-24 1.96 -24 24.365 oddsRatioConfidenceIntervalLower 45.001 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079741 385838 26590 32.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC22A12 Urate (30880) EFO_0004531 4.2399999999999996e-67 4.24 -67 "" -1.542 -1.228 -1.385 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 96.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CCNF Mean corpuscular volume (30040) EFO_0004526 2.81e-12 2.81 -12 "" 0.143 0.255 0.199 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 963.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Arm fat free mass left (23125) EFO_0004995 6.83e-17 6.83 -17 "" -0.893 -0.553 -0.723 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 44.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" GMPR Red blood cell erythrocyte distribution width (30070) EFO_0009188 3.38e-31 3.38 -31 "" -0.205 -0.146 -0.175 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3789.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 6mm weak meridian right (5098) EFO_0004731 1.17e-16 1.17 -16 "" 0.301 0.488 0.394 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 354.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 2.1200000000000002e-29 2.12 -29 6.775 oddsRatioConfidenceIntervalLower 9.454 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 67.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 Illnesses of mother - None of the above group 2 (20110) EFO_0000493 1.11e-15 1.11 -15 0.519 oddsRatioConfidenceIntervalLower 0.609 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078283 423686 308506 376.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IRS1 Whole body fat free mass (23101) EFO_0004995 1.0499999999999999e-23 1.05 -23 "" -0.574 -0.386 -0.48 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 140.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MSH6 ICD10 C54.1: Malignant neoplasm of endometrium MONDO_0011962 2.32e-13 2.32 -13 5.125 oddsRatioConfidenceIntervalLower 7.935 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079607 228786 1469 33.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CST9L Cystatin C (30720) EFO_0004617 1.55e-11 1.55 -11 "" -0.481 -0.265 -0.373 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 237.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LRP5 Heel bone mineral density BMD (3148) EFO_0009270 6.71e-14 6.71 -14 "" -0.763 -0.447 -0.605 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 120.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGF1R Leg fat free mass left (23117) EFO_0004995 6.83e-13 6.83 -13 "" -0.14 -0.08 -0.11 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 1485.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 corneal power (RGC) EFO_0004731 2.88e-18 2.88 -18 "" 0.307 0.486 0.397 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081537 103531 103531 384.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APC ICD10 Z93.2: Ileostomy status EFO_0002571 1.1e-21 1.1 -21 50.818 oddsRatioConfidenceIntervalLower 113.64 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081413 387887 1429 16.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LRP5 Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 9.79e-14 9.79 -14 "" -0.76 -0.443 -0.601 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 120.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 8.04e-12 8.04 -12 2.732 oddsRatioConfidenceIntervalLower 3.644 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 69.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" JAK2 ICD10 R16.1: Splenomegaly, not elsewhere classified HP_0001744 1.26e-18 1.26 -18 9.535 oddsRatioConfidenceIntervalLower 15.747 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080804 387798 515 26.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR LipidLowering Med (RGC) EFO_0007010 2.67e-58 2.67 -58 6.852 oddsRatioConfidenceIntervalLower 8.661 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 211.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BORA Mean sphered cell volume (30270) EFO_0004526 2.74e-17 2.74 -17 "" -0.141 -0.088 -0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 4492.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A1 Total bilirubin (30840) EFO_0004570 4.5900000000000003e-66 4.59 -66 "" 0.407 0.512 0.46 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1198.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CETP Apolipoprotein A (30630) EFO_0004732 9.46e-51 9.46 -51 "" 0.587 0.764 0.676 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 361.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 2.03e-17 2.03 -17 26.273 oddsRatioConfidenceIntervalLower 55.866 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 16.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" E2F4 Mean reticulocyte volume (30260) EFO_0010701 3.57e-17 3.57 -17 "" 1.207 1.938 1.573 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 24.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ALPL Alkaline phosphatase (30610) EFO_0004533 2.2300000000000002e-307 2.23 -307 "" -2.263 -2.083 -2.173 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 369.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN ICD10 I50: Heart failure EFO_0003144 8.42e-30 8.42 -30 2.575 oddsRatioConfidenceIntervalLower 3.032 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080023 387076 8159 206.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SH2B3 Neutrophil count (30140) EFO_0004833 7.18e-32 7.18 -32 "" 0.152 0.213 0.182 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 3691.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MSH6 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 8.86e-17 8.86 -17 3.939 oddsRatioConfidenceIntervalLower 5.44 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 66.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 High light scatter reticulocyte count (30300) EFO_0007986 2.37e-16 2.37 -16 "" 0.149 0.243 0.196 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1508.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LDLR CAD Loose CC (RGC) EFO_0001645 1.77e-19 1.77 -19 3.768 oddsRatioConfidenceIntervalLower 5.027 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081465 387011 33971 86.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" UGT1A6 Total bilirubin (30840) EFO_0004570 1.8999999999999998e-62 1.9 -62 "" 0.445 0.564 0.504 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 938.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MYOC Intra ocular pressure corneal compensated right (5254) EFO_0004695 7.66e-15 7.66 -15 "" 0.283 0.475 0.379 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079333 105888 105888 395.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 N18.9: Chronic kidney disease, unspecified EFO_0003884 9.25e-36 9.25 -36 19.717 oddsRatioConfidenceIntervalLower 31.488 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080583 387930 3916 41.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 ICD10 C78.6: Secondary malignant neoplasm of retroperitoneum and peritoneum EFO_0009812 3.04e-12 3.04 -12 8.118 oddsRatioConfidenceIntervalLower 14.62 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079623 387930 1833 20.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANKRD12 Calcium (30680) EFO_0004838 6.93e-13 6.93 -13 "" -0.519 -0.297 -0.408 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 281.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A10 Total bilirubin (30840) EFO_0004570 5.9599999999999995e-53 5.96 -53 "" 0.404 0.522 0.463 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 932.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 6mm weak meridian left (5097) EFO_0004731 2.85e-17 2.85 -17 "" 0.595 0.954 0.774 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 95.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IL33 ICD10 J45: Asthma MONDO_0004979 1.12e-11 1.12 -11 0.694 oddsRatioConfidenceIntervalLower 0.771 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080141 383974 39436 344.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PARN Mean corpuscular haemoglobin (30050) EFO_0004527 8.73e-14 8.73 -14 "" 0.123 0.211 0.167 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1553.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 1.24e-18 1.24 -18 "" -2.998 -1.907 -2.452 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 10.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" BRCA2 ICD10 C79: Secondary malignant neoplasm of other and unspecified sites EFO_0009812 1.14e-11 1.14 -11 1.926 oddsRatioConfidenceIntervalLower 2.327 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079629 387728 5376 137.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TUBB1 Platelet count (30080) EFO_0004309 1.46e-111 1.46 -111 "" -0.519 -0.435 -0.477 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1679.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SDPR Mean platelet thrombocyte volume (30100) EFO_0004584 2.27e-19 2.27 -19 "" -0.729 -0.468 -0.599 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 162.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Leg predicted mass left (23118) EFO_0004302 1.01e-16 1.01 -16 "" 0.264 0.427 0.345 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 197.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KLF1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 4.86e-15 4.86 -15 "" 0.892 1.487 1.189 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 37.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ORMDL3 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.33e-12 1.33 -12 "" 0.218 0.385 0.302 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 471.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC9A3R2 Haemoglobin concentration (30020) EFO_0004509 1.01e-16 1.01 -16 "" -0.095 -0.059 -0.077 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 6540.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANK1 Mean sphered cell volume (30270) EFO_0004526 5.97e-21 5.97 -21 "" -0.677 -0.443 -0.56 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 234.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" ANGPTL8 Triglycerides (30870) EFO_0004530 3.770000000000001e-27 3.77 -27 "" -0.466 -0.323 -0.394 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 602.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 Illnesses of mother - Breast cancer (20110) EFO_0009640 1.1e-33 1.1 -33 1.97 oddsRatioConfidenceIntervalLower 2.199 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 444.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PAPPA2 Trunk predicted mass (23130) EFO_0004324 3.19e-14 3.19 -14 "" -0.12 -0.071 -0.096 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 2007.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MLH1 ICD10 Z80.0: Family history of malignant neoplasm of digestive organs EFO_0009640 2.34e-16 2.34 -16 39.258 oddsRatioConfidenceIntervalLower 94.352 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081329 385471 9455 14.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" NRK Standing height (50) EFO_0004339 3.58e-15 3.58 -15 "" 0.244 0.406 0.325 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 129.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" COL4A3 Microalbumin in urine (30500) EFO_0010967 1.48e-11 1.48 -11 "" 0.178 0.324 0.251 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 699.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" JAK2 ICD10 D69.6: Thrombocytopenia, unspecified HP_0001873 5.41e-18 5.41 -18 4.89 oddsRatioConfidenceIntervalLower 7.009 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079714 387579 1788 46.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 Cystatin C (30720) EFO_0004617 9.49e-36 9.49 -36 "" 0.49 0.673 0.582 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 311.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IQGAP2 Albumin (30600) EFO_0004535 6.73e-17 6.73 -17 "" -0.27 -0.168 -0.219 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 1292.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Impedance of leg left (23108) HP_0000924 4.8e-27 4.8 -27 "" -0.351 -0.243 -0.297 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CLSPN Mean corpuscular haemoglobin (30050) EFO_0004527 2.18e-11 2.18 -11 "" 0.241 0.44 0.341 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 298.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean corpuscular volume (30040) EFO_0004526 8.8e-232 8.8 -232 "" -3.069 -2.72 -2.894 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 98.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APEH Haemoglobin concentration (30020) EFO_0004509 6.19e-15 6.19 -15 "" -0.234 -0.14 -0.187 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 975.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MLH1 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 6.4e-16 6.4 -16 15.747 oddsRatioConfidenceIntervalLower 30.728 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 20.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SPTA1 Mean reticulocyte volume (30260) EFO_0010701 1.09e-43 1.09 -43 "" -0.764 -0.575 -0.669 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 365.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CREB3L3 Apolipoprotein A (30630) EFO_0004732 6e-18 6.0 -18 "" -0.383 -0.241 -0.312 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 551.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Leg fat free mass right (23113) EFO_0004995 1.56e-12 1.56 -12 "" -0.07 -0.039 -0.055 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 5845.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Leg predicted mass right (23114) EFO_0004302 2.96e-17 2.96 -17 "" -0.092 -0.057 -0.075 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 4404.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IRS1 Seated height (51) EFO_0011011 2.48e-12 2.48 -12 "" -0.534 -0.301 -0.417 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 145.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Trunk predicted mass (23130) EFO_0004324 9.49e-21 9.49 -21 "" 0.136 0.208 0.172 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 936.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBA2 Mean corpuscular haemoglobin (30050) EFO_0004527 2.2e-17 2.2 -17 "" -0.357 -0.223 -0.29 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1039.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C79: Secondary malignant neoplasm of other and unspecified sites EFO_0009812 7.1e-14 7.1 -14 5.25 oddsRatioConfidenceIntervalLower 8.105 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079629 387728 5376 34.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LDLR ICD10 E78.0: Pure hypercholesterolemia HP_0003124 6.28e-46 6.28 -46 2.768 oddsRatioConfidenceIntervalLower 3.185 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079766 378271 45730 344.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FLG Age hay fever rhinitis or eczema diagnosed (3761) EFO_0003956 1.7999999999999998e-35 1.8 -35 "" -0.246 -0.179 -0.213 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079072 88602 88602 3170.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SH2B3 Eosinophil count (30150) EFO_0004842 1.23e-20 1.23 -20 "" 0.112 0.171 0.142 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 3691.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Trunk fat mass (23128) EFO_0005409 1.16e-11 1.16 -11 "" 0.322 0.583 0.452 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078931 423433 423433 197.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CASR Calcium (30680) EFO_0004838 2.16e-13 2.16 -13 "" 1.099 1.901 1.5 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 22.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" IGF1R Arm predicted mass left (23126) EFO_0004302 1.14e-15 1.14 -15 "" -0.239 -0.145 -0.192 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 568.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APOB Cholesterol (30690) EFO_0004574 7.4e-64 7.4 -64 "" -0.267 -0.212 -0.239 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 4350.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" WNT1 Heel bone mineral density BMD right (4124) EFO_0009270 1.23e-12 1.23 -12 "" -0.615 -0.349 -0.482 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079158 166266 166266 167.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Arm fat free mass left (23125) EFO_0004995 1.07e-16 1.07 -16 "" -0.078 -0.048 -0.063 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 5843.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CXCR2 Neutrophil percentage (30200) EFO_0007990 2.3e-12 2.3 -12 "" -0.464 -0.262 -0.363 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 335.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANK1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 5.67e-13 5.67 -13 "" 0.054 0.094 0.074 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 8979.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 Cystatin C (30720) EFO_0004617 9.49e-36 9.49 -36 "" 0.49 0.673 0.582 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 311.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 1.7699999999999998e-23 1.77 -23 8.454 oddsRatioConfidenceIntervalLower 12.853 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 41.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 1.0600000000000001e-66 1.06 -66 6.539 oddsRatioConfidenceIntervalLower 8.094 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 161.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR CAD (RGC) EFO_0001645 1.26e-19 1.26 -19 2.268 oddsRatioConfidenceIntervalLower 2.707 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081466 283203 28605 198.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF1R Whole body fat free mass (23101) EFO_0004995 4.2400000000000005e-21 4.24 -21 "" -0.472 -0.309 -0.39 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 185.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" HBB High light scatter reticulocyte count (30300) EFO_0007986 1.4700000000000002e-31 1.47 -31 "" 0.92 1.291 1.106 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 96.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GHRH Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 7.47e-13 7.47 -13 "" -0.45 -0.257 -0.354 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 58.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Eosinophil count (30150) EFO_0004842 2.8e-57 2.8 -57 "" -0.393 -0.307 -0.35 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 1777.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Treatment or Medication Code - spironolactone EFO_0007010 1.02e-12 1.02 -12 4.299 oddsRatioConfidenceIntervalLower 6.419 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078038 320758 859 37.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Treatment or Medication Code - spironolactone EFO_0007010 1.02e-12 1.02 -12 4.299 oddsRatioConfidenceIntervalLower 6.419 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078038 320758 859 37.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 7.8499999999999995e-28 7.85 -28 6.954 oddsRatioConfidenceIntervalLower 9.844 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 57.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TP53 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 1.67e-14 1.67 -14 16.566 oddsRatioConfidenceIntervalLower 33.933 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 16.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANK1 Mean reticulocyte volume (30260) EFO_0010701 8.6e-20 8.6 -20 "" -0.663 -0.428 -0.546 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 234.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" TECTA Hearing aid user - Yes (3393) EFO_0009720 2.13e-13 2.13 -13 2.653 oddsRatioConfidenceIntervalLower 3.442 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079053 281979 15741 85.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGF1R Trunk predicted mass (23130) EFO_0004324 4.43e-19 4.43 -19 "" -0.257 -0.164 -0.211 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 568.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Trunk fat free mass (23129) EFO_0004995 2.76e-25 2.76 -25 "" -0.137 -0.093 -0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 2641.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HNF1A T2D (RGC) MONDO_0005148 2.63e-13 2.63 -13 6.102 oddsRatioConfidenceIntervalLower 9.909 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 33.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PLD1 Glycated haemoglobin HbA1c (30750) EFO_0004541 6.840000000000001e-29 6.84 -29 "" 0.082 0.116 0.099 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 9927.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I51: Complications and ill-defined descriptions of heart disease EFO_0003777 6.81e-13 6.81 -13 2.354 oddsRatioConfidenceIntervalLower 2.973 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080027 385880 6712 96.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANO5 Aspartate aminotransferase (30650) EFO_0004736 4.73e-36 4.73 -36 "" 0.172 0.236 0.204 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 3130.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC45A2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 4.42e-79 4.42 -79 0.444 oddsRatioConfidenceIntervalLower 0.483 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 747.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GMPR Mean sphered cell volume (30270) EFO_0004526 1.61e-11 1.61 -11 "" 0.072 0.131 0.102 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 3713.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.8000000000000002e-158 1.8 -158 "" 1.967 2.277 2.122 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 98.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NPC1 Monocyte percentage (30190) EFO_0007989 2.06e-12 2.06 -12 "" -0.164 -0.092 -0.128 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 2741.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean corpuscular volume (30040) EFO_0004526 4.71e-17 4.71 -17 "" -2.76 -1.715 -2.237 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HSPA9 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.7e-19 1.7 -19 "" 0.788 1.225 1.007 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 69.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TUBB1 Platelet crit (30090) EFO_0007985 1.3399999999999999e-45 1.34 -45 "" -0.72 -0.545 -0.633 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 382.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" JAK2 Mean reticulocyte volume (30260) EFO_0010701 2.76e-20 2.76 -20 "" 0.143 0.221 0.182 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 2137.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CRP C reactive protein (30710) EFO_0004458 9.23e-13 9.23 -13 "" -0.835 -0.475 -0.655 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9815 9815 101.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANK1 Reticulocyte percentage (30240) EFO_0010700 3.12e-12 3.12 -12 "" 0.309 0.55 0.429 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 234.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" SLCO1B3 Direct bilirubin (30660) EFO_0004570 1.77e-15 1.77 -15 "" 0.251 0.415 0.333 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 384.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RAB32 Hair colour natural before greying - Blonde (1747) EFO_0007822 6.2e-12 6.2 -12 2.6 oddsRatioConfidenceIntervalLower 3.414 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 89.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MYD88 Lymphocyte percentage (30180) EFO_0007993 1.7e-21 1.7 -21 "" 0.373 0.566 0.469 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 356.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGFALS Leg predicted mass right (23114) EFO_0004302 1.07e-13 1.07 -13 "" -0.124 -0.072 -0.098 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 1957.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 3mm weak meridian left (5096) EFO_0004731 1.29e-18 1.29 -18 "" 0.587 0.923 0.755 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 109.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC Non cancer illness code self reported - rectal or colon adenoma polyps EFO_1000633 1.17e-15 1.17 -15 39.389 oddsRatioConfidenceIntervalLower 96.798 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077867 331754 1530 12.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OCA2 Ease of skin tanning - Get very tanned (1727) EFO_0007009 1.1e-26 1.1 -26 0.452 oddsRatioConfidenceIntervalLower 0.523 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 186.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CASR Calcium (30680) EFO_0004838 1.45e-32 1.45 -32 "" 1.468 2.048 1.758 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 42.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ABCG5 LDL direct (30780) EFO_0004611 1.47e-16 1.47 -16 "" 0.091 0.148 0.12 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 4159.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Arm predicted mass left (23126) EFO_0004302 4.84e-14 4.84 -14 "" 0.199 0.339 0.269 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 257.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GIGYF1 Cholesterol (30690) EFO_0004574 1.55e-19 1.55 -19 "" -0.812 -0.522 -0.667 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 154.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC4A1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.1600000000000003e-21 3.16 -21 "" 0.163 0.249 0.206 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 1949.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK Non cancer illness code self reported - diabetes/ICD10 E14 EFO_0000400 2.83e-15 2.83 -15 17.083 oddsRatioConfidenceIntervalLower 34.55 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077723 329052 16961 20.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MIP ICD10 H26: Other cataract MONDO_0005129 4.6100000000000004e-33 4.61 -33 8.018 oddsRatioConfidenceIntervalLower 11.272 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079893 384442 20291 70.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANGPTL3 HDL cholesterol (30760) EFO_0004612 1.08e-32 1.08 -32 "" -0.293 -0.21 -0.251 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1519.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB High light scatter reticulocyte count (30300) EFO_0007986 1.4700000000000002e-31 1.47 -31 "" 0.92 1.291 1.106 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 96.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 7.31e-26 7.31 -26 4.743 oddsRatioConfidenceIntervalLower 6.34 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 86.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MAP3K15 Glucose (30740) EFO_0004468 1.74e-25 1.74 -25 "" -0.107 -0.073 -0.09 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 6885.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RIOK3 Reticulocyte count (30250) EFO_0007986 6.92e-13 6.92 -13 "" 0.064 0.111 0.087 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 5836.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ATP11C Total bilirubin (30840) EFO_0004570 1.86e-13 1.86 -13 "" 0.213 0.368 0.291 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 291.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GCK ICD10 E13.62: Other specified diabetes mellitus with skin complications EFO_0000400 1.12e-11 1.12 -11 5.184 oddsRatioConfidenceIntervalLower 8.336 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079744 386731 8622 29.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Impedance of whole body (23106) HP_0000924 3.99e-18 3.99 -18 "" 0.062 0.099 0.081 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 5847.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 Mother still alive - Yes (1835) EFO_0007796 1.86e-13 1.86 -13 0.489 oddsRatioConfidenceIntervalLower 0.592 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077615 423687 167942 192.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Comparative height size at age 10 - Taller (1697) EFO_0004339 7.56e-16 7.56 -16 1.577 oddsRatioConfidenceIntervalLower 1.761 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077592 423975 109627 558.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 8.2e-25 8.2 -25 3.233 oddsRatioConfidenceIntervalLower 4.042 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 117.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IRS1 Arm fat free mass right (23121) EFO_0004995 1.27e-22 1.27 -22 "" -0.559 -0.372 -0.466 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 140.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MEN1 ICD10 E21: Hyperparathyroidism and other disorders of parathyroid gland EFO_0008506 8.13e-23 8.13 -23 737.503 oddsRatioConfidenceIntervalLower 2750.38 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079753 387625 1168 10.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" B4GALNT3 Seated height (51) EFO_0011011 4.9e-12 4.9 -12 "" 0.057 0.102 0.08 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 3904.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC1R Ease of skin tanning - Never tan only burn (1727) EFO_0007009 5.17e-17 5.17 -17 2.609 oddsRatioConfidenceIntervalLower 3.265 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 138.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 High light scatter reticulocyte percentage (30290) EFO_0010700 3.8100000000000004e-21 3.81 -21 "" 0.18 0.275 0.228 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1508.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RTEL1 Mean corpuscular volume (30040) EFO_0004526 1.2e-20 1.2 -20 "" 0.155 0.237 0.196 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1760.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Basal metabolic rate (23105) EFO_0007777 3.22e-29 3.22 -29 "" 0.159 0.226 0.192 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCAT Apolipoprotein A (30630) EFO_0004732 3.1499999999999995e-23 3.15 -23 "" -1.348 -0.904 -1.126 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 57.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SIX6 SphericalEquivalent 0 left (RGC) EFO_0004731 1.31e-18 1.31 -18 "" -0.279 -0.177 -0.228 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081508 93665 93665 1323.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HSPG2 Alkaline phosphatase (30610) EFO_0004533 1.97e-160 1.97 -160 "" -0.36 -0.311 -0.336 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 5095.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 Reticulocyte percentage (30240) EFO_0010700 1.77e-11 1.77 -11 "" 0.103 0.188 0.145 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1915.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PFKL Glycated haemoglobin HbA1c (30750) EFO_0004541 5.62e-14 5.62 -14 "" 0.072 0.123 0.098 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 4723.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Standing height (50) EFO_0004339 2.95e-32 2.95 -32 "" 0.45 0.629 0.54 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 161.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SH2B3 Platelet count (30080) EFO_0004309 2.35e-12 2.35 -12 "" 0.302 0.536 0.419 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 215.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PYGM Urate (30880) EFO_0004531 2.56e-13 2.56 -13 "" 0.038 0.066 0.052 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 12577.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR LipidLowering Med (RGC) EFO_0007010 2.0300000000000002e-21 2.03 -21 3.832 oddsRatioConfidenceIntervalLower 5.056 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 128.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANGPTL3 Apolipoprotein B (30640) EFO_0004615 1.7e-11 1.7 -11 "" -0.271 -0.149 -0.21 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 865.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTB Mean sphered cell volume (30270) EFO_0004526 8.23e-12 8.23 -12 "" -0.464 -0.257 -0.361 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 295.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" LCAT Apolipoprotein A (30630) EFO_0004732 3.1499999999999995e-23 3.15 -23 "" -1.348 -0.904 -1.126 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 57.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHEK2 Illnesses of siblings - Breast cancer (20111) EFO_0009640 1.38e-13 1.38 -13 1.543 oddsRatioConfidenceIntervalLower 1.731 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 382.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 D63.165.8: Anemia in chronic kidney disease EFO_0004272 1.6e-12 1.6 -12 20.426 oddsRatioConfidenceIntervalLower 47.166 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079710 387885 936 12.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.42e-20 1.42 -20 2.217 oddsRatioConfidenceIntervalLower 2.622 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 202.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOB ICD10 E78: Disorders of lipoprotein metabolism and other lipidemias Orphanet_79062 4.42e-15 4.42 -15 0.29 oddsRatioConfidenceIntervalLower 0.396 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079768 372199 51365 30.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SCARB1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.89e-14 6.89 -14 "" 0.106 0.182 0.144 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 2314.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BAK1 Platelet crit (30090) EFO_0007985 2.82e-12 2.82 -12 "" 0.343 0.611 0.477 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 165.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ASXL1 Smoking status - Current (20116) EFO_0006527 1.9699999999999998e-38 1.97 -38 2.757 oddsRatioConfidenceIntervalLower 3.215 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078302 429255 45239 265.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC12A9 Hair colour natural before greying - Dark brown (1747) EFO_0007822 6.779999999999999e-23 6.78 -23 0.612 oddsRatioConfidenceIntervalLower 0.675 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 641.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCC2 Direct bilirubin (30660) EFO_0004570 5.81e-16 5.81 -16 "" 0.145 0.238 0.192 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1175.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FCGRT Total protein (30860) EFO_0004536 1.1500000000000002e-27 1.15 -27 "" -1.976 -1.373 -1.674 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 38.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN ICD10 I42: Cardiomyopathy EFO_0000318 1.61e-48 1.61 -48 5.313 oddsRatioConfidenceIntervalLower 6.645 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 128.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MLH1 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 2.06e-23 2.06 -23 101.411 oddsRatioConfidenceIntervalLower 251.45 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 16.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" SMAD6 Ankle spacing width right (4119) EFO_0004324 1.05e-11 1.05 -11 "" 0.165 0.298 0.231 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079154 166358 166358 578.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Haemoglobin concentration (30020) EFO_0004509 1.27e-133 1.27 -133 "" -2.008 -1.712 -1.86 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 98.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CHEK2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 1.06e-16 1.06 -16 1.849 oddsRatioConfidenceIntervalLower 2.138 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 252.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR DD vascular heart problems - Angina (6150) EFO_0003913 3.68e-15 3.68 -15 2.591 oddsRatioConfidenceIntervalLower 3.285 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079443 129643 14103 113.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ABCC2 Direct bilirubin (30660) EFO_0004570 5.81e-16 5.81 -16 "" 0.145 0.238 0.192 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1175.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TGFB2 FEV1 FVC ratio Z score (20258) EFO_0004713 1.78e-13 1.78 -13 "" 0.059 0.102 0.08 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 7690.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CD36 Platelet count (30080) EFO_0004309 4.87e-12 4.87 -12 "" -0.13 -0.073 -0.101 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 3612.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 6.29e-14 6.29 -14 "" -2.502 -1.466 -1.984 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2108 2108 13.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z51: Encounter for other aftercare and medical care EFO_0004542 1.49e-24 1.49 -24 2.209 oddsRatioConfidenceIntervalLower 2.571 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081286 383746 34913 246.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 High light scatter reticulocyte percentage (30290) EFO_0010700 9.29e-26 9.29 -26 "" 0.191 0.279 0.235 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 1754.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PIEZO1 Sitting height (20015) EFO_0011011 2.02e-11 2.02 -11 "" -0.147 -0.081 -0.114 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1517.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Haemoglobin concentration (30020) EFO_0004509 1.27e-133 1.27 -133 "" -2.008 -1.712 -1.86 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 98.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - rosuvastatin EFO_0007010 1.8299999999999999e-38 1.83 -38 6.732 oddsRatioConfidenceIntervalLower 8.981 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078225 320758 2905 83.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TYMP Mean reticulocyte volume (30260) EFO_0010701 3.55e-18 3.55 -18 "" -0.24 -0.151 -0.196 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1659.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CRP C reactive protein (30710) EFO_0004458 3.36e-34 3.36 -34 "" -0.764 -0.552 -0.658 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079026 411229 411229 306.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 Standing height (50) EFO_0004339 2.87e-19 2.87 -19 "" -0.351 -0.225 -0.288 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 325.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Trunk fat free mass (23129) EFO_0004995 3.33e-33 3.33 -33 "" 0.241 0.335 0.288 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 554.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GFI1B Mean platelet thrombocyte volume (30100) EFO_0004584 5.4000000000000005e-58 5.4 -58 "" 0.237 0.303 0.27 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 2574.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC13A1 Sitting height (20015) EFO_0011011 6.2e-14 6.2 -14 "" -0.103 -0.061 -0.082 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 3713.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PLD1 Eosinophil percentage (30210) EFO_0007991 5.98e-12 5.98 -12 "" -0.083 -0.046 -0.065 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 10073.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Platelet distribution width (30110) EFO_0007984 2.68e-30 2.68 -30 "" 0.217 0.306 0.262 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1532.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANKRD12 Mean corpuscular haemoglobin (30050) EFO_0004527 3.17e-14 3.17 -14 "" -0.475 -0.28 -0.378 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 312.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RTEL1 Mean corpuscular haemoglobin (30050) EFO_0004527 4.31e-14 4.31 -14 "" 0.267 0.454 0.361 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 339.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CLSPN Mean corpuscular haemoglobin (30050) EFO_0004527 9.89e-12 9.89 -12 "" 0.248 0.448 0.348 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 295.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OCA2 Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 1.83e-47 1.83 -47 0.582 oddsRatioConfidenceIntervalLower 0.626 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 980.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I42.0: Dilated cardiomyopathy EFO_0000407 4.3900000000000005e-50 4.39 -50 8.086 oddsRatioConfidenceIntervalLower 10.649 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079998 387930 858 93.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Hand grip strength right (47) EFO_0006941 9.69e-13 9.69 -13 "" -0.08 -0.045 -0.062 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 5940.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Whole body water mass (23102) EFO_0009805 5.8e-17 5.8 -17 "" -0.077 -0.048 -0.063 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 5845.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK TAG ProbableT2D (RGC) MONDO_0005148 1.91e-14 1.91 -14 18.15 oddsRatioConfidenceIntervalLower 38.117 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081526 426342 17719 18.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SMAD6 Sitting height (20015) EFO_0011011 1.45e-12 1.45 -12 "" 0.085 0.151 0.118 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1584.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Haematocrit percentage (30030) EFO_0004348 1.64e-27 1.64 -27 "" -1.101 -0.764 -0.932 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RIOK3 High light scatter reticulocyte percentage (30290) EFO_0010700 1.84e-22 1.84 -22 "" 0.095 0.143 0.119 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 5835.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Basal metabolic rate (23105) EFO_0007777 1.82e-12 1.82 -12 "" 0.067 0.118 0.092 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 2067.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC45A2 Skin colour - Light olive (1717) EFO_0003784 1.37e-90 1.37 -90 0.287 oddsRatioConfidenceIntervalLower 0.324 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 223.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TSHR ICD10 E03.9: Hypothyroidism, unspecified EFO_0004705 6.08e-13 6.08 -13 2.868 oddsRatioConfidenceIntervalLower 3.82 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079721 385358 19694 73.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL4A4 ICD10 R31: Hematuria HP_0000790 4.19e-18 4.19 -18 5.809 oddsRatioConfidenceIntervalLower 8.646 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080842 383009 19710 45.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Impedance of leg left (23108) HP_0000924 1.19e-11 1.19 -11 "" 0.054 0.098 0.076 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 5849.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PTPN6 Platelet distribution width (30110) EFO_0007984 2.28e-14 2.28 -14 "" 0.127 0.215 0.171 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1614.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CAD Mean corpuscular volume (30040) EFO_0004526 4.67e-13 4.67 -13 "" 0.086 0.15 0.118 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 2925.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Arm fat free mass right (23121) EFO_0004995 5.14e-20 5.14 -20 "" -0.082 -0.053 -0.068 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 5844.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLCO1B3 Direct bilirubin (30660) EFO_0004570 3.44e-139 3.44 -139 "" 0.287 0.335 0.311 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 4428.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NF1 Lymphocyte percentage (30180) EFO_0007993 9.4e-17 9.4 -17 "" -0.654 -0.404 -0.529 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 214.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CYR61 Impedance of arm right (23109) HP_0000924 4e-16 4.0 -16 "" 0.047 0.076 0.061 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 7639.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LPL Apolipoprotein A (30630) EFO_0004732 6.16e-12 6.16 -12 "" -0.657 -0.365 -0.511 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 130.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ALB Total protein (30860) EFO_0004536 6.53e-16 6.53 -16 "" -0.526 -0.321 -0.423 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 325.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FLT3 Monocyte count (30130) EFO_0005091 2.63e-24 2.63 -24 "" 0.258 0.381 0.319 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 814.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MEN1 ICD10 E21.0: Primary hyperparathyroidism EFO_0008519 1.1e-14 1.1 -14 434.988 oddsRatioConfidenceIntervalLower 2031.21 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079751 387930 643 6.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TNFRSF13B Mean sphered cell volume (30270) EFO_0004526 3.19e-18 3.19 -18 "" -0.116 -0.073 -0.095 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 7042.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" STAB1 IGF 1 (30770) EFO_0004627 7.5e-13 7.5 -13 "" -0.232 -0.133 -0.183 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1234.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACO1 Haematocrit percentage (30030) EFO_0004348 7.67e-26 7.67 -26 "" 0.329 0.479 0.404 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 403.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 6.31e-33 6.31 -33 "" 0.081 0.113 0.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 2157.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGF1R Arm predicted mass left (23126) EFO_0004302 1.51e-11 1.51 -11 "" -0.129 -0.071 -0.1 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 1485.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IRS1 Arm fat free mass left (23125) EFO_0004995 1.24e-19 1.24 -19 "" -0.538 -0.347 -0.442 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 140.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR CAD (RGC) EFO_0001645 8.54e-18 8.54 -18 3.817 oddsRatioConfidenceIntervalLower 5.181 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081466 283203 28605 77.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" DENND4B Platelet distribution width (30110) EFO_0007984 9.29e-15 9.29 -15 "" -0.316 -0.188 -0.252 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 773.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" KIAA1109 Mean platelet thrombocyte volume (30100) EFO_0004584 6.16e-19 6.16 -19 "" -0.304 -0.194 -0.249 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 900.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" POLE Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.98e-11 1.98 -11 "" 0.255 0.466 0.361 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 294.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" JAK2 ICD10 D75: Other and unspecified diseases of blood and blood-forming organs EFO_0005803 3.29e-64 3.29 -64 15.201 oddsRatioConfidenceIntervalLower 20.835 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079719 387036 993 79.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" WNT1 Heel quantitative ultrasound index QUI direct entry right (4123) EFO_0004514 7.53e-13 7.53 -13 "" -0.626 -0.357 -0.491 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079157 166358 166358 164.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 Illnesses of mother - Breast cancer (20110) EFO_0009640 5.86e-19 5.86 -19 2.067 oddsRatioConfidenceIntervalLower 2.426 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 212.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC4A1 Reticulocyte percentage (30240) EFO_0010700 2.64e-27 2.64 -27 "" 0.928 1.339 1.134 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 81.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MEPE Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 9.15e-15 9.15 -15 "" -0.403 -0.24 -0.321 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 453.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SCUBE3 Sitting height (20015) EFO_0011011 2.04e-12 2.04 -12 "" -0.545 -0.307 -0.426 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 121.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 2.7599999999999995e-23 2.76 -23 3.955 oddsRatioConfidenceIntervalLower 5.186 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 81.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LRP2 Cystatin C (30720) EFO_0004617 6.3e-24 6.3 -24 "" -0.102 -0.069 -0.085 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 9778.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Leg fat mass left (23116) EFO_0005409 2.51e-24 2.51 -24 "" 0.175 0.258 0.217 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078919 423640 423640 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PCSK9 LDL direct (30780) EFO_0004611 2.34e-39 2.34 -39 "" -0.966 -0.715 -0.84 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8527 8527 225.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" COL21A1 Systolic blood pressure automated reading (4080) EFO_0006335 1.04e-22 1.04 -22 "" 0.11 0.165 0.138 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079146 408211 408211 4099.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Trunk fat free mass (23129) EFO_0004995 5.7e-15 5.7 -15 "" 0.253 0.423 0.338 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 170.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R Arm predicted mass right (23122) EFO_0004302 3.2e-19 3.2 -19 "" -0.193 -0.124 -0.159 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 995.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PCSK9 Apolipoprotein B (30640) EFO_0004615 5.3400000000000005e-185 5.34 -185 "" -0.833 -0.728 -0.78 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 1171.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SRSF2 Eosinophil percentage (30210) EFO_0007991 3.68e-12 3.68 -12 "" -0.616 -0.345 -0.481 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 182.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Basal metabolic rate (23105) EFO_0007777 1.5e-13 1.5 -13 "" -0.073 -0.043 -0.058 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 5845.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" WNT1 Heel broadband ultrasound attenuation right (4120) EFO_0004514 5.51e-12 5.51 -12 "" -0.596 -0.332 -0.464 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079155 166349 166349 167.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PIEZO1 Standing height (50) EFO_0004339 4.13e-33 4.13 -33 "" -0.052 -0.038 -0.045 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 24971.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Waist circumference (48) EFO_0004342 3.3e-13 3.3 -13 "" 0.314 0.545 0.429 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079228 430261 430261 202.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LY75-CD302 Platelet count (30080) EFO_0004309 2.72e-15 2.72 -15 "" 0.088 0.146 0.117 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 3586.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Leg predicted mass left (23118) EFO_0004302 1e-13 10.0 -14 "" -0.512 -0.298 -0.405 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 115.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Impedance of arm right (23109) HP_0000924 6.4500000000000004e-27 6.45 -27 "" 0.076 0.11 0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 5848.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 7.64e-21 7.64 -21 16.639 oddsRatioConfidenceIntervalLower 29.971 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 24.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CYB561D2 High light scatter reticulocyte percentage (30290) EFO_0010700 2.15e-11 2.15 -11 "" 0.075 0.136 0.105 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 3537.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 7.85e-23 7.85 -23 7.624 oddsRatioConfidenceIntervalLower 11.428 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 42.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" E2F4 Mean corpuscular volume (30040) EFO_0004526 5.95e-13 5.95 -13 "" 0.449 0.785 0.617 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 106.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANK1 Mean sphered cell volume (30270) EFO_0004526 8.51e-15 8.51 -15 "" -0.799 -0.477 -0.638 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 123.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Hip circumference (49) EFO_0005093 5.7600000000000004e-21 5.76 -21 "" 0.153 0.234 0.193 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079253 430214 430214 2096.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 6.65e-28 6.65 -28 4.121 oddsRatioConfidenceIntervalLower 5.309 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 94.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACAN Arm fat free mass right (23121) EFO_0004995 3.56e-18 3.56 -18 "" -0.556 -0.352 -0.454 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 115.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PAPPA2 Arm fat free mass right (23121) EFO_0004995 6.27e-14 6.27 -14 "" -0.132 -0.077 -0.105 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 1621.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ASXL1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.24e-26 2.24 -26 "" 0.129 0.187 0.158 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3860.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HNF1A T2D (RGC) MONDO_0005148 2.63e-13 2.63 -13 6.102 oddsRatioConfidenceIntervalLower 9.909 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 33.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I48: Atrial fibrillation and flutter EFO_0000275 3.95e-25 3.95 -25 1.771 oddsRatioConfidenceIntervalLower 1.974 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080015 386856 20107 452.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Seated height (51) EFO_0011011 1.53e-11 1.53 -11 "" -0.094 -0.051 -0.073 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 4492.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SHOX Standing height (50) EFO_0004339 3.24e-23 3.24 -23 "" -1.31 -0.878 -1.094 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 27.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ACAN Arm predicted mass right (23122) EFO_0004302 6.12e-17 6.12 -17 "" -0.868 -0.538 -0.703 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 44.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" IRS1 Leg predicted mass left (23118) EFO_0004302 1.2e-16 1.2 -16 "" -0.507 -0.313 -0.41 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 140.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SH2B3 Monocyte percentage (30190) EFO_0007989 5.06e-14 5.06 -14 "" -0.141 -0.083 -0.112 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 3691.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 2.94e-13 2.94 -13 "" -2.664 -1.536 -2.1 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 14.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC45A2 Skin colour - Very fair (1717) EFO_0003784 3.43e-25 3.43 -25 2.877 oddsRatioConfidenceIntervalLower 3.513 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 163.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" THBS4 3mm strong meridian right (5132) EFO_0004731 2.77e-22 2.77 -22 "" -0.354 -0.235 -0.295 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079298 103540 103540 887.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHEK2 Age at menopause last menstrual period (3581) EFO_0004704 2.0599999999999997e-40 2.06 -40 "" 0.246 0.331 0.288 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079064 140172 140172 2152.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHEK2 Age at menopause last menstrual period (3581) EFO_0004704 2.08e-21 2.08 -21 "" 0.193 0.293 0.243 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079064 140172 140172 1597.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ALB LDL direct (30780) EFO_0004611 3.28e-14 3.28 -14 "" 0.43 0.73 0.58 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 147.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGF1R Leg fat free mass left (23117) EFO_0004995 1.74e-19 1.74 -19 "" -0.271 -0.174 -0.223 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 568.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC4A1 Direct bilirubin (30660) EFO_0004570 1.3700000000000002e-21 1.37 -21 "" 0.736 1.116 0.926 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 70.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 Mean reticulocyte volume (30260) EFO_0010701 5.76e-15 5.76 -15 "" -0.205 -0.123 -0.164 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1915.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - ezetimibe EFO_0007010 2.1e-26 2.1 -26 41.86 oddsRatioConfidenceIntervalLower 83.321 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078226 320758 2675 22.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LDLR CAD Loose CC (RGC) EFO_0001645 5.01e-12 5.01 -12 3.226 oddsRatioConfidenceIntervalLower 4.498 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081465 387011 33971 61.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SRSF2 Eosinophil count (30150) EFO_0004842 6.59e-13 6.59 -13 "" -0.626 -0.357 -0.491 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 182.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TMPRSS6 Haemoglobin concentration (30020) EFO_0004509 7.43e-14 7.43 -14 "" -0.354 -0.207 -0.28 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 400.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" E2F8 Mean sphered cell volume (30270) EFO_0004526 1.34e-11 1.34 -11 "" 0.265 0.48 0.372 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 272.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HTRA1 Standing height (50) EFO_0004339 2.96e-13 2.96 -13 "" -0.25 -0.144 -0.197 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 457.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IL33 AsthmaCases vs AllergicDiseaseControls (RGC) MONDO_0004979 1.47e-15 1.47 -15 0.674 oddsRatioConfidenceIntervalLower 0.742 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081459 328314 47628 428.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EPB41 Mean sphered cell volume (30270) EFO_0004526 2.2999999999999997e-24 2.3 -24 "" -0.834 -0.565 -0.699 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 178.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Red blood cell erythrocyte count (30010) EFO_0004305 3.64e-12 3.64 -12 "" -0.179 -0.1 -0.139 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 1532.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RTEL1 Red blood cell erythrocyte count (30010) EFO_0004305 4.95e-14 4.95 -14 "" -0.403 -0.236 -0.32 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 339.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB High light scatter reticulocyte percentage (30290) EFO_0010700 5.38e-13 5.38 -13 "" 0.502 0.876 0.689 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 96.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" WNT1 Speed of sound through heel right (4122) EFO_0005654 7.57e-12 7.57 -12 "" -0.611 -0.339 -0.475 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079156 166358 166358 164.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GRK6 Neutrophil percentage (30200) EFO_0007990 5.03e-12 5.03 -12 "" 0.124 0.222 0.173 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 1434.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FBN2 Impedance of arm left (23110) HP_0000924 8.15e-12 8.15 -12 "" 0.26 0.469 0.365 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 152.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ZFAT Basal metabolic rate (23105) EFO_0007777 1.38e-11 1.38 -11 "" 0.218 0.397 0.308 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 170.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANK1 Mean reticulocyte volume (30260) EFO_0010701 2.82e-17 2.82 -17 "" -1.074 -0.67 -0.872 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 79.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGF1R Seated height (51) EFO_0011011 3.3e-12 3.3 -12 "" -0.467 -0.262 -0.365 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 187.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" COL4A4 ICD10 R31: Hematuria HP_0000790 4.19e-18 4.19 -18 5.809 oddsRatioConfidenceIntervalLower 8.646 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080842 383009 19710 45.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" JAK2 Platelet crit (30090) EFO_0007985 1.4700000000000002e-27 1.47 -27 "" 0.622 0.895 0.758 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 159.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Reticulocyte count (30250) EFO_0007986 5.870000000000001e-26 5.87 -26 "" 0.814 1.186 1.0 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 96.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" G6PC Triglycerides (30870) EFO_0004530 1.38e-19 1.38 -19 "" 0.167 0.26 0.213 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 1452.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Trunk predicted mass (23130) EFO_0004324 5.32e-29 5.32 -29 "" 0.13 0.185 0.158 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 1594.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS3 Impedance of leg left (23108) HP_0000924 4.87e-15 4.87 -15 "" -0.334 -0.2 -0.267 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 614.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SCUBE3 Whole body water mass (23102) EFO_0009805 8.07e-14 8.07 -14 "" -0.118 -0.069 -0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 2062.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I50: Heart failure EFO_0003144 3.07e-34 3.07 -34 3.369 oddsRatioConfidenceIntervalLower 4.094 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080023 387076 8159 156.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ASGR1 Cholesterol (30690) EFO_0004574 1.02e-11 1.02 -11 "" -0.29 -0.16 -0.225 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 765.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PCSK9 Apolipoprotein B (30640) EFO_0004615 1.36e-15 1.36 -15 "" -1.428 -0.865 -1.147 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 41.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" TET2 Eosinophil count (30150) EFO_0004842 2.8e-57 2.8 -57 "" -0.393 -0.307 -0.35 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 1777.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TFRC Mean sphered cell volume (30270) EFO_0004526 1.11e-15 1.11 -15 "" -0.989 -0.6 -0.794 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 84.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GCK Treatment or Medication Code - metformin EFO_0007010 1.45e-11 1.45 -11 4.614 oddsRatioConfidenceIntervalLower 7.191 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078119 320758 11579 33.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANGPTL3 Apolipoprotein A (30630) EFO_0004732 2.26e-64 2.26 -64 "" -0.567 -0.449 -0.508 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 799.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCAT Apolipoprotein A (30630) EFO_0004732 3.1499999999999995e-23 3.15 -23 "" -1.348 -0.904 -1.126 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 57.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Leg fat free mass right (23113) EFO_0004995 1.98e-14 1.98 -14 "" 0.073 0.124 0.099 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 2067.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MSH6 Type of Cancer: Malignant neoplasm of endometrium (40006) MONDO_0011962 7.480000000000001e-27 7.48 -27 15.541 oddsRatioConfidenceIntervalLower 25.654 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079109 41005 1536 38.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPTA1 High light scatter reticulocyte count (30300) EFO_0007986 5.36e-31 5.36 -31 "" 0.469 0.66 0.564 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 365.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYRP1 Ease of skin tanning - Get very tanned (1727) EFO_0007009 1.51e-15 1.51 -15 0.796 oddsRatioConfidenceIntervalLower 0.842 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 1588.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 C50: Malignant neoplasm of breast EFO_0003869 1.21e-12 1.21 -12 3.881 oddsRatioConfidenceIntervalLower 5.642 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 46.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LRP5 Heel bone mineral density BMD (3148) EFO_0009270 6.71e-14 6.71 -14 "" -0.763 -0.447 -0.605 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 120.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UBR2 Leg fat percentage right (23111) EFO_0007800 4.12e-12 4.12 -12 "" 0.245 0.438 0.341 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078914 423666 423666 141.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" COL6A1 Corneal resistance factor right (5257) EFO_0010067 4.79e-12 4.79 -12 "" -0.469 -0.262 -0.366 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079336 105888 105888 317.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean corpuscular volume (30040) EFO_0004526 4.71e-17 4.71 -17 "" -2.76 -1.715 -2.237 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR LipidLowering Med (RGC) EFO_0007010 5.52e-94 5.52 -94 3.824 oddsRatioConfidenceIntervalLower 4.346 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 590.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" THPO Platelet crit (30090) EFO_0007985 2.33e-12 2.33 -12 "" -0.324 -0.182 -0.253 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 589.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LY75-CD302 Platelet crit (30090) EFO_0007985 1.82e-28 1.82 -28 "" 0.133 0.191 0.162 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 3689.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 I12.0: Hypertensive chronic kidney disease with stage 5 chronic kidney disease or end stage renal disease MONDO_0024633 2.72e-24 2.72 -24 26.26 oddsRatioConfidenceIntervalLower 49.3 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079963 387930 1504 23.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL6A1 Corneal hysteresis right (5256) EFO_0010066 3.44e-25 3.44 -25 "" -1.349 -0.92 -1.135 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079335 105888 105888 75.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EIF2AK1 High light scatter reticulocyte percentage (30290) EFO_0010700 2.01e-11 2.01 -11 "" 0.307 0.56 0.434 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 209.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 7.840000000000001e-29 7.84 -29 4.201 oddsRatioConfidenceIntervalLower 5.408 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 101.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ABCA1 Apolipoprotein A (30630) EFO_0004732 2.2300000000000002e-307 2.23 -307 "" -0.773 -0.701 -0.737 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 2137.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGFALS Leg fat free mass right (23113) EFO_0004995 7.61e-14 7.61 -14 "" -0.125 -0.073 -0.099 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 1957.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NF1 Non cancer illness code self reported - other neurological problem EFO_0000618 2.7599999999999995e-23 2.76 -23 6.056 oddsRatioConfidenceIntervalLower 8.638 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077842 331754 1794 52.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GPLD1 Alkaline phosphatase (30610) EFO_0004533 2.2300000000000002e-307 2.23 -307 "" -0.804 -0.755 -0.779 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 5096.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LRP5 Heel bone mineral density BMD T score automated (78) EFO_0009270 9.82e-14 9.82 -14 "" -0.76 -0.443 -0.601 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 120.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGFALS Standing height (50) EFO_0004339 1.41e-12 1.41 -12 "" -0.085 -0.048 -0.067 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 3747.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLCO1B3 Total bilirubin (30840) EFO_0004570 1.9799999999999999e-140 1.98 -140 "" 0.269 0.314 0.291 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 4822.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MLH1 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 2.33e-15 2.33 -15 29.997 oddsRatioConfidenceIntervalLower 69.583 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 15.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" BRCA2 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 5.57e-13 5.57 -13 3.313 oddsRatioConfidenceIntervalLower 4.589 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 53.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SIGLEC1 Gamma glutamyltransferase (30730) EFO_0004532 1.2200000000000001e-21 1.22 -21 "" 0.084 0.127 0.105 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 6125.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RIOK3 Reticulocyte percentage (30240) EFO_0010700 6.48e-14 6.48 -14 "" 0.068 0.117 0.092 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 5836.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Non cancer illness code self reported - atrial fibrillation EFO_0000275 2e-15 2.0 -15 2.33 oddsRatioConfidenceIntervalLower 2.871 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077881 331754 3921 120.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LRP5 Speed of sound through heel (3146) EFO_0005654 1.68e-13 1.68 -13 "" -0.762 -0.442 -0.602 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 120.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK Non cancer illness code self reported - diabetes EFO_0000400 4.71e-16 4.71 -16 17.612 oddsRatioConfidenceIntervalLower 35.203 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077722 331754 17927 21.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR ICD10 E78.00: Pure hypercholesterolemia, unspecified HP_0003124 1.06e-15 1.06 -15 3.456 oddsRatioConfidenceIntervalLower 4.679 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079765 375399 5498 63.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z85.4: Personal history of malignant neoplasm of genital organs EFO_0000616 2.91e-12 2.91 -12 3.274 oddsRatioConfidenceIntervalLower 4.567 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081350 387908 5672 52.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SF3B1 Red blood cell erythrocyte count (30010) EFO_0004305 1.05e-31 1.05 -31 "" -0.541 -0.386 -0.463 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 394.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ABCB11 Alkaline phosphatase (30610) EFO_0004533 2.18e-18 2.18 -18 "" 0.443 0.699 0.571 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 182.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LCORL Arm predicted mass left (23126) EFO_0004302 4.84e-14 4.84 -14 "" 0.199 0.339 0.269 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 257.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACVRL1 ICD10 I78: Diseases of capillaries EFO_0004264 2.62e-19 2.62 -19 168.599 oddsRatioConfidenceIntervalLower 516.038 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 10.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MSH2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 1.73e-13 1.73 -13 6.197 oddsRatioConfidenceIntervalLower 10.067 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 33.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" NPR2 Standing height (50) EFO_0004339 3.46e-33 3.46 -33 "" -0.793 -0.57 -0.681 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 104.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET1 Standing height (50) EFO_0004339 2.26e-12 2.26 -12 "" 0.371 0.658 0.515 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 62.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Direct bilirubin (30660) EFO_0004570 2.05e-12 2.05 -12 "" 0.455 0.808 0.632 "" SAS HANCESTRO_0006 UK Biobank 450k "" 8157 8157 95.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PTPRH Platelet count (30080) EFO_0004309 2.7700000000000004e-31 2.77 -31 "" -0.192 -0.136 -0.164 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 3852.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Haemoglobin concentration (30020) EFO_0004509 4.27e-13 4.27 -13 "" -0.164 -0.094 -0.129 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1779.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Platelet crit (30090) EFO_0007985 6.57e-13 6.57 -13 "" -0.098 -0.056 -0.077 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 6665.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MEPE Heel broadband ultrasound attenuation left (4101) EFO_0004514 2.54e-20 2.54 -20 "" -0.385 -0.25 -0.318 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079149 166276 166276 651.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CAD Mean corpuscular haemoglobin (30050) EFO_0004527 4.13e-15 4.13 -15 "" 0.359 0.597 0.478 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 210.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC22A12 Urate (30880) EFO_0004531 8.949999999999999e-48 8.95 -48 "" -0.842 -0.642 -0.742 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8534 8534 283.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PRPSAP1 Urate (30880) EFO_0004531 1.57e-12 1.57 -12 "" 0.151 0.267 0.209 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 700.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CD36 Red blood cell erythrocyte distribution width (30070) EFO_0009188 3.76e-22 3.76 -22 "" 0.178 0.268 0.223 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1621.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANK1 Reticulocyte count (30250) EFO_0007986 1.92e-11 1.92 -11 "" 0.289 0.527 0.408 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 234.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" BRCA2 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 1.29e-14 1.29 -14 7.311 oddsRatioConfidenceIntervalLower 12.124 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 27.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LCORL Trunk predicted mass (23130) EFO_0004324 1.07e-14 1.07 -14 "" 0.223 0.374 0.298 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 213.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APOB LDL direct (30780) EFO_0004611 2.94e-118 2.94 -118 "" -0.726 -0.612 -0.669 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 1039.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" FIBIN Standing height (50) EFO_0004339 3.82e-17 3.82 -17 "" -0.087 -0.054 -0.071 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 4759.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Arm predicted mass right (23122) EFO_0004302 2.38e-28 2.38 -28 "" 0.216 0.309 0.262 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 554.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 Type of Cancer: Malignant neoplasm of breast (40006) EFO_0003869 2.2e-15 2.2 -15 2.161 oddsRatioConfidenceIntervalLower 2.615 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079108 41005 12472 223.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC45A2 Skin colour - Light olive (1717) EFO_0003784 1.3e-42 1.3 -42 0.317 oddsRatioConfidenceIntervalLower 0.374 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 129.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SMAD6 3mm weak meridian left (5096) EFO_0004731 2.4900000000000004e-21 2.49 -21 "" 0.438 0.667 0.553 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079273 103531 103531 236.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TMPRSS6 Haemoglobin concentration (30020) EFO_0004509 3.55e-14 3.55 -14 "" -0.599 -0.353 -0.476 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 142.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GJB2 hearing loss (RGC) EFO_0004238 7.67e-12 7.67 -12 1.225 oddsRatioConfidenceIntervalLower 1.298 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 2014.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Platelet distribution width (30110) EFO_0007984 4.3700000000000004e-32 4.37 -32 "" 0.208 0.291 0.249 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1794.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC45A2 Skin colour - Light olive (1717) EFO_0003784 1.09e-32 1.09 -32 0.191 oddsRatioConfidenceIntervalLower 0.251 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 35.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SF3B1 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 1.68e-19 1.68 -19 22.526 oddsRatioConfidenceIntervalLower 44.28 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 19.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.59e-14 1.59 -14 "" 1.326 2.235 1.781 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCM2 Calcium (30680) EFO_0004838 1.11e-17 1.11 -17 "" 0.17 0.27 0.22 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 1383.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANKRD12 Calcium (30680) EFO_0004838 6.93e-13 6.93 -13 "" -0.519 -0.297 -0.408 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 281.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SPTA1 Reticulocyte percentage (30240) EFO_0010700 2.15e-14 2.15 -14 "" 0.583 0.985 0.784 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 85.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" ACAN Arm fat free mass right (23121) EFO_0004995 1.39e-19 1.39 -19 "" -0.777 -0.501 -0.639 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 63.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Leg predicted mass right (23114) EFO_0004302 2.02e-12 2.02 -12 "" -0.069 -0.039 -0.054 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 5845.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APEH Red blood cell erythrocyte distribution width (30070) EFO_0009188 4.2e-20 4.2 -20 "" -0.375 -0.243 -0.309 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 754.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TFRC Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.75e-20 1.75 -20 "" 0.775 1.19 0.983 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 76.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LCORL Basal metabolic rate (23105) EFO_0007777 2.22e-14 2.22 -14 "" 0.269 0.455 0.362 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 157.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FLG Asthma Strict CC (RGC) MONDO_0004979 6.53e-13 6.53 -13 1.231 oddsRatioConfidenceIntervalLower 1.303 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081460 376289 39436 1513.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" WNT1 Heel quantitative ultrasound index QUI direct entry (3147) EFO_0004514 9.53e-16 9.53 -16 "" -0.586 -0.356 -0.471 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079051 246319 246319 227.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OR51V1 Mean corpuscular haemoglobin (30050) EFO_0004527 1.69e-14 1.69 -14 "" -1.054 -0.625 -0.839 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 83.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHEK2 Platelet crit (30090) EFO_0007985 3.1000000000000004e-38 3.1 -38 "" 0.182 0.247 0.215 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 2755.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Body mass index BMI (21001) EFO_0004340 3.51e-16 3.51 -16 "" 0.404 0.659 0.532 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078684 429633 429633 202.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GATA5 Forced expiratory volume in 1 second FEV1 Best measure (20150) EFO_0004314 3.66e-15 3.66 -15 "" -0.092 -0.055 -0.074 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078316 322002 322002 5446.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASXL1 Past tobacco smoking - Smoked on most or all days (1249) EFO_0005671 1.54e-12 1.54 -12 1.741 oddsRatioConfidenceIntervalLower 2.03 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077585 397089 109016 339.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APC ICD10 Z86.0: Personal history of in-situ and benign neoplasms and neoplasms of uncertain behavior EFO_0000616 4.66e-13 4.66 -13 16.1 oddsRatioConfidenceIntervalLower 34.18 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081355 387929 6926 15.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" SLC25A45 Creatinine (30700) EFO_0004518 1.48e-11 1.48 -11 "" -0.081 -0.044 -0.063 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 6666.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TUBB1 Platelet distribution width (30110) EFO_0007984 5.27e-19 5.27 -19 "" 1.484 2.322 1.903 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 18.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" LDLR ICD10 I25.1: Atherosclerotic heart disease of native coronary artery EFO_0001645 2.24e-18 2.24 -18 2.159 oddsRatioConfidenceIntervalLower 2.566 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079978 387911 23129 192.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" POLE Mean corpuscular volume (30040) EFO_0004526 7.510000000000001e-21 7.51 -21 "" 0.249 0.38 0.314 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 689.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS17 Comparative height size at age 10 - Shorter (1697) EFO_0004339 6.17e-18 6.17 -18 1.519 oddsRatioConfidenceIntervalLower 1.67 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 679.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Basal metabolic rate (23105) EFO_0007777 1.96e-15 1.96 -15 "" 0.253 0.418 0.336 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 197.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Leg fat free mass right (23113) EFO_0004995 3.03e-29 3.03 -29 "" 0.156 0.223 0.189 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Seated height (51) EFO_0011011 8.300000000000001e-28 8.3 -28 "" 0.116 0.167 0.142 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 3061.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 1.9599999999999997e-30 1.96 -30 14.15 oddsRatioConfidenceIntervalLower 22.257 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 40.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TECTA hearing loss (RGC) EFO_0004238 1.07e-16 1.07 -16 1.352 oddsRatioConfidenceIntervalLower 1.452 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 1400.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGFALS Leg fat free mass left (23117) EFO_0004995 2.81e-13 2.81 -13 "" -0.124 -0.071 -0.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 1957.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MEPE Heel bone mineral density BMD right (4124) EFO_0009270 2.82e-23 2.82 -23 "" -0.409 -0.275 -0.342 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079158 166266 166266 651.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTB Mean sphered cell volume (30270) EFO_0004526 1.57e-19 1.57 -19 "" -0.878 -0.565 -0.722 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 129.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A1 Total bilirubin (30840) EFO_0004570 2.11e-12 2.11 -12 "" 0.61 1.082 0.846 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 59.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SPTA1 High light scatter reticulocyte percentage (30290) EFO_0010700 4.5e-29 4.5 -29 "" 0.501 0.714 0.608 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 299.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANKRD12 Touchscreen duration (630) EFO_0000689 1.1e-15 1.1 -15 "" 0.3 0.494 0.397 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079491 430751 430751 318.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LCORL Arm predicted mass right (23122) EFO_0004302 1.92e-13 1.92 -13 "" 0.188 0.325 0.256 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 257.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLT3 Monocyte count (30130) EFO_0005091 1.55e-19 1.55 -19 "" 0.185 0.287 0.236 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 1180.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOC3 Triglycerides (30870) EFO_0004530 2.75e-16 2.75 -16 "" -1.133 -0.695 -0.914 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 66.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC12A9 Hair colour natural before greying - Dark brown (1747) EFO_0007822 8.97e-20 8.97 -20 0.591 oddsRatioConfidenceIntervalLower 0.662 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 471.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HSPA9 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.5e-68 2.5 -68 "" 0.943 1.181 1.062 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 232.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IL17RA Monocyte count (30130) EFO_0005091 2.2300000000000002e-307 2.23 -307 "" -0.493 -0.448 -0.47 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 6105.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Haemoglobin concentration (30020) EFO_0004509 6.04e-29 6.04 -29 "" -2.251 -1.579 -1.915 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 19.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PDE3B Leg fat free mass right (23113) EFO_0004995 3.67e-12 3.67 -12 "" 0.084 0.151 0.117 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 1200.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MYD88 Lymphocyte count (30120) EFO_0004587 6.09e-20 6.09 -20 "" 0.357 0.551 0.454 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 356.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOB Cholesterol (30690) EFO_0004574 2.2300000000000002e-307 2.23 -307 "" -1.505 -1.368 -1.436 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 700.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CAD Mean reticulocyte volume (30260) EFO_0010701 1.24e-50 1.24 -50 "" 0.369 0.48 0.424 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1046.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - atorvastatin EFO_0007010 1.02e-16 1.02 -16 4.793 oddsRatioConfidenceIntervalLower 6.939 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078178 320758 16654 51.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Trunk fat percentage (23127) EFO_0004324 1.65e-11 1.65 -11 "" 0.133 0.243 0.188 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078930 423451 423451 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UBR2 Leg fat percentage right (23111) EFO_0007800 4.12e-12 4.12 -12 "" 0.245 0.438 0.341 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078914 423666 423666 141.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PROS1 VTE PE CC (RGC) EFO_0003827 4.08e-12 4.08 -12 2.826 oddsRatioConfidenceIntervalLower 3.791 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081536 376456 5226 63.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC45A2 Hair colour natural before greying - Blonde (1747) EFO_0007822 1.11e-22 1.11 -22 3.802 oddsRatioConfidenceIntervalLower 4.966 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 107.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" JAK2 Platelet crit (30090) EFO_0007985 1.0500000000000001e-29 1.05 -29 "" 0.681 0.966 0.823 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 146.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" EPB42 Mean sphered cell volume (30270) EFO_0004526 1.93e-12 1.93 -12 "" -0.331 -0.187 -0.259 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 606.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SIX6 SphericalEquivalent 0 right (RGC) EFO_0004731 3.36e-17 3.36 -17 "" -0.267 -0.166 -0.217 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081509 93958 93958 1330.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GIGYF1 Red blood cell erythrocyte count (30010) EFO_0004305 4.22e-18 4.22 -18 "" 0.062 0.098 0.08 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 7321.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TYRP1 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 2.09e-11 2.09 -11 2.242 oddsRatioConfidenceIntervalLower 2.84 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 127.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 ICD10 D04: Carcinoma in situ of skin EFO_0004198 2.14e-11 2.14 -11 39.481 oddsRatioConfidenceIntervalLower 115.789 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079645 387746 973 8.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" PKD1 Creatinine (30700) EFO_0004518 1.2e-47 1.2 -47 "" 0.806 1.058 0.932 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 138.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" WNT1 Heel broadband ultrasound attenuation right (4120) EFO_0004514 3.4e-12 3.4 -12 "" -0.606 -0.34 -0.473 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079155 166349 166349 164.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 Self Report - breast cancer (20001) EFO_0000305 5.32e-20 5.32 -20 3.139 oddsRatioConfidenceIntervalLower 4.01 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077626 39614 10070 196.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CGN Gamma glutamyltransferase (30730) EFO_0004532 1.06e-14 1.06 -14 "" 0.127 0.214 0.171 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1538.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ATM ICD10 C50: Malignant neoplasm of breast EFO_0003869 5.52e-15 5.52 -15 2.742 oddsRatioConfidenceIntervalLower 3.532 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 91.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" EPB42 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.47e-11 1.47 -11 "" -0.258 -0.142 -0.2 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 867.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MLH1 ICD10 Z80.0: Family history of malignant neoplasm of digestive organs EFO_0009640 2.03e-17 2.03 -17 20.135 oddsRatioConfidenceIntervalLower 40.262 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081329 385471 9455 19.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IHH Standing height (50) EFO_0004339 1.27e-13 1.27 -13 "" -1.576 -0.917 -1.247 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 12.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 2.94e-13 2.94 -13 "" -2.664 -1.536 -2.1 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 14.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OCA2 Use of sun uv protection - Never rarely (2267) EFO_0010729 1.49e-11 1.49 -11 0.777 oddsRatioConfidenceIntervalLower 0.836 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078879 430409 38347 757.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Platelet count (30080) EFO_0004309 9.85e-18 9.85 -18 "" -0.217 -0.136 -0.177 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1794.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TPM4 Mean platelet thrombocyte volume (30100) EFO_0004584 1.43e-12 1.43 -12 "" 0.674 1.19 0.932 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 41.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IRS1 Whole body water mass (23102) EFO_0009805 2.74e-23 2.74 -23 "" -0.571 -0.383 -0.477 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 140.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" EML4 Impedance of arm right (23109) HP_0000924 1.05e-16 1.05 -16 "" -0.139 -0.086 -0.113 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 2348.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Red blood cell erythrocyte count (30010) EFO_0004305 1.89e-12 1.89 -12 "" -0.181 -0.102 -0.142 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 1517.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GMPR High light scatter reticulocyte count (30300) EFO_0007986 4.1699999999999995e-30 4.17 -30 "" 0.22 0.312 0.266 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 1583.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKLR High light scatter reticulocyte count (30300) EFO_0007986 4.33e-19 4.33 -19 "" 0.214 0.335 0.275 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 916.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z90.1: Acquired absence of breast and nipple EFO_0009744 2.5599999999999998e-23 2.56 -23 5.967 oddsRatioConfidenceIntervalLower 8.484 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081390 387929 3153 54.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APC ICD10 Z09.0: Follow-up examination after surgery for other conditions (Z09.0) EFO_0004542 1.39e-11 1.39 -11 12.039 oddsRatioConfidenceIntervalLower 24.77 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081201 387930 5895 15.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NPC1L1 Cholesterol (30690) EFO_0004574 2.09e-18 2.09 -18 "" -0.16 -0.101 -0.131 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 3794.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EGLN1 Red blood cell erythrocyte count (30010) EFO_0004305 9.16e-13 9.16 -13 "" 0.441 0.775 0.608 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 85.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 6mm weak meridian left (5097) EFO_0004731 9.87e-22 9.87 -22 "" 0.478 0.724 0.601 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 203.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" B4GALNT3 Standing height (50) EFO_0004339 1.7e-25 1.7 -25 "" 0.079 0.116 0.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 3903.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TP53 ICD10 C91: Lymphoid leukemia EFO_0004289 2.99e-14 2.99 -14 13.885 oddsRatioConfidenceIntervalLower 27.368 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 17.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FLG Asthma Strict CC (RGC) MONDO_0004979 6.53e-13 6.53 -13 1.231 oddsRatioConfidenceIntervalLower 1.303 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081460 376289 39436 1513.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Leg fat mass left (23116) EFO_0005409 2.34e-13 2.34 -13 "" 0.282 0.487 0.385 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078919 423640 423640 197.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ALPL Alkaline phosphatase (30610) EFO_0004533 3.21e-22 3.21 -22 "" -2.25 -1.493 -1.872 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 21.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" PKD1 ICD10 A41: Other sepsis HP_0100806 2.12e-11 2.12 -11 9.786 oddsRatioConfidenceIntervalLower 19.077 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079546 387463 5918 17.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" TET2 Monocyte percentage (30190) EFO_0007989 9.81e-31 9.81 -31 "" 0.204 0.287 0.246 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 1791.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR ICD10 E78: Disorders of lipoprotein metabolism and other lipidemias Orphanet_79062 1.12e-25 1.12 -25 11.093 oddsRatioConfidenceIntervalLower 17.402 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079768 372199 51365 55.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 2.8299999999999997e-60 2.83 -60 6.781 oddsRatioConfidenceIntervalLower 8.527 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 141.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LPL Triglycerides (30870) EFO_0004530 2.3800000000000002e-27 2.38 -27 "" 0.325 0.469 0.397 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 610.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 5.7e-39 5.7 -39 3.887 oddsRatioConfidenceIntervalLower 4.765 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 149.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FGD1 Impedance of whole body (23106) HP_0000924 6.54e-12 6.54 -12 "" -0.367 -0.204 -0.286 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 158.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LCORL Whole body water mass (23102) EFO_0009805 6.32e-15 6.32 -15 "" 0.226 0.378 0.302 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 213.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APOB LipidLowering Med (RGC) EFO_0007010 1.41e-21 1.41 -21 0.267 oddsRatioConfidenceIntervalLower 0.35 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 45.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS17 Impedance of whole body (23106) HP_0000924 5.98e-13 5.98 -13 "" -0.325 -0.186 -0.255 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 394.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LRP5 Heel bone mineral density BMD T score automated (78) EFO_0009270 9.82e-14 9.82 -14 "" -0.76 -0.443 -0.601 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079502 246319 246319 120.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RASA2 Lymphocyte count (30120) EFO_0004587 6.25e-12 6.25 -12 "" -0.464 -0.258 -0.361 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 318.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RGS11 Mean corpuscular haemoglobin (30050) EFO_0004527 7.57e-15 7.57 -15 "" -0.721 -0.431 -0.576 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 224.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I34.0: Nonrheumatic mitral (valve) insufficiency EFO_0009557 8.28e-12 8.28 -12 4.722 oddsRatioConfidenceIntervalLower 7.37 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079991 387332 2987 31.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" TET2 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 7.85e-23 7.85 -23 7.624 oddsRatioConfidenceIntervalLower 11.428 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 42.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Arm predicted mass right (23122) EFO_0004302 1.0800000000000001e-27 1.08 -27 "" -0.109 -0.076 -0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 4403.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean corpuscular volume (30040) EFO_0004526 8.8e-232 8.8 -232 "" -3.069 -2.72 -2.894 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 98.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK Non cancer illness code self reported - diabetes/ICD10 E14 EFO_0000400 1.16e-15 1.16 -15 7.276 oddsRatioConfidenceIntervalLower 11.826 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077723 329052 16961 33.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" UGT1A6 Total bilirubin (30840) EFO_0004570 6.32e-15 6.32 -15 "" 0.308 0.516 0.412 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9811 9811 348.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 9.86e-19 9.86 -19 8.455 oddsRatioConfidenceIntervalLower 13.575 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 32.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANGPTL3 Apolipoprotein A (30630) EFO_0004732 2.69e-94 2.69 -94 "" -0.492 -0.406 -0.449 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1517.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Leg predicted mass right (23114) EFO_0004302 5.62e-16 5.62 -16 "" -0.114 -0.07 -0.092 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 2643.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ATM ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 4.22e-16 4.22 -16 2.054 oddsRatioConfidenceIntervalLower 2.444 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 184.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GRAMD2 Standing height (50) EFO_0004339 3.77e-31 3.77 -31 "" 0.056 0.079 0.068 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 10065.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 Ever had hysterectomy womb removed - Yes (3591) EFO_0003881 1.19e-12 1.19 -12 3.42 oddsRatioConfidenceIntervalLower 4.8 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079065 207093 18107 58.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ATR Mean corpuscular volume (30040) EFO_0004526 8.91e-16 8.91 -16 "" -0.145 -0.088 -0.116 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 3756.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PER3 Chronotype - More an evening than a morning person (1180) EFO_0008328 6.31e-14 6.31 -14 0.79 oddsRatioConfidenceIntervalLower 0.84 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077575 388330 114330 1334.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C56: Malignant neoplasm of ovary EFO_0003893 9.26e-13 9.26 -13 11.284 oddsRatioConfidenceIntervalLower 21.945 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079609 211652 1188 17.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TSHR ICD10 E03: Other hypothyroidism EFO_0004705 1.13e-14 1.13 -14 2.298 oddsRatioConfidenceIntervalLower 2.839 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079722 383065 21010 126.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET1 Standing height (50) EFO_0004339 1.04e-13 1.04 -13 "" 0.146 0.251 0.198 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 469.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SCARB1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.89e-14 6.89 -14 "" 0.106 0.182 0.144 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 2314.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC1R Hair colour natural before greying - Red (1747) EFO_0007822 2.2300000000000002e-307 2.23 -307 8.338 oddsRatioConfidenceIntervalLower 9.316 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 1557.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GMPR Red blood cell erythrocyte count (30010) EFO_0004305 1.2e-18 1.2 -18 "" -0.139 -0.088 -0.114 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 3789.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 ICD10 M50: Cervical disc disorders EFO_0009537 2.48e-12 2.48 -12 9.558 oddsRatioConfidenceIntervalLower 17.975 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080494 386602 2103 18.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ABCB11 Alkaline phosphatase (30610) EFO_0004533 9.47e-43 9.47 -43 "" 0.222 0.297 0.26 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 2172.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 Platelet distribution width (30110) EFO_0007984 1.6e-21 1.6 -21 "" 0.111 0.168 0.14 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 3857.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC45A2 Hair colour natural before greying - Blonde (1747) EFO_0007822 4.25e-18 4.25 -18 3.447 oddsRatioConfidenceIntervalLower 4.559 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 92.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PEAR1 Mean platelet thrombocyte volume (30100) EFO_0004584 8e-14 8.0 -14 "" -0.193 -0.113 -0.153 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 1748.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ATR Mean reticulocyte volume (30260) EFO_0010701 5.94e-13 5.94 -13 "" -0.312 -0.178 -0.245 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 724.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Leg predicted mass right (23114) EFO_0004302 3e-15 3.0 -15 "" 0.245 0.407 0.326 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 197.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R TAG Severe Obesity (RGC) EFO_0001073 6.12e-18 6.12 -18 4.087 oddsRatioConfidenceIntervalLower 5.627 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081528 150526 7973 66.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Arm fat free mass right (23121) EFO_0004995 3.36e-19 3.36 -19 "" 0.113 0.177 0.145 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Platelet distribution width (30110) EFO_0007984 3.0100000000000004e-32 3.01 -32 "" 0.209 0.293 0.251 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1779.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MIP ICD10 H26.9: Unspecified cataract MONDO_0005129 5.410000000000001e-27 5.41 -27 7.182 oddsRatioConfidenceIntervalLower 10.285 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079892 387427 17761 60.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CXCR2 Neutrophil percentage (30200) EFO_0007990 2.3e-12 2.3 -12 "" -0.464 -0.262 -0.363 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 335.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANK1 Reticulocyte percentage (30240) EFO_0010700 1.61e-13 1.61 -13 "" 0.169 0.291 0.23 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 915.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" JAK2 Immature reticulocyte fraction (30280) EFO_0010700 2.97e-13 2.97 -13 "" 0.11 0.19 0.15 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 2136.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LPL Triglycerides (30870) EFO_0004530 7.97e-30 7.97 -30 "" 0.32 0.454 0.387 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 705.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOB Apolipoprotein B (30640) EFO_0004615 6e-133 6.0 -133 "" -0.516 -0.439 -0.478 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 2242.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CASP7 ICD10 H26.9: Unspecified cataract MONDO_0005129 4.69e-14 4.69 -14 1.737 oddsRatioConfidenceIntervalLower 2.005 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079892 387427 17761 247.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TYR Skin colour - Light olive (1717) EFO_0003784 1.2499999999999998e-52 1.25 -52 0.386 oddsRatioConfidenceIntervalLower 0.436 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 253.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GHRH Whole body fat free mass (23101) EFO_0004995 1.12e-13 1.12 -13 "" -0.442 -0.257 -0.35 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 143.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN ICD10 I42.9: Cardiomyopathy, unspecified EFO_0000318 4.78e-19 4.78 -19 7.746 oddsRatioConfidenceIntervalLower 12.148 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079999 387930 681 34.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANGPTL3 Triglycerides (30870) EFO_0004530 3.79e-96 3.79 -96 "" -0.694 -0.575 -0.634 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 867.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CLDN10 Cystatin C (30720) EFO_0004617 6.5e-25 6.5 -25 "" 0.681 1.001 0.841 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 101.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IHH Standing height (50) EFO_0004339 5.1199999999999995e-24 5.12 -24 "" -0.391 -0.264 -0.327 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 324.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APC ICD10 D12.6: Benign neoplasm of colon, unspecified EFO_0002422 3.66e-30 3.66 -30 47.964 oddsRatioConfidenceIntervalLower 93.242 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079659 387930 2672 24.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TYR Hair colour natural before greying - Blonde (1747) EFO_0007822 6.69e-17 6.69 -17 2.343 oddsRatioConfidenceIntervalLower 2.861 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 158.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Whole body water mass (23102) EFO_0009805 2.93e-23 2.93 -23 "" -0.102 -0.069 -0.085 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 4404.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF1R Leg predicted mass left (23118) EFO_0004302 2.43e-19 2.43 -19 "" -0.268 -0.172 -0.22 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 568.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TMPRSS6 Mean corpuscular volume (30040) EFO_0004526 4.82e-56 4.82 -56 "" -0.368 -0.287 -0.328 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1822.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HNF1A Non cancer illness code self reported - diabetes EFO_0000400 5.58e-13 5.58 -13 7.814 oddsRatioConfidenceIntervalLower 13.664 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077722 331754 17927 25.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOA5 Apolipoprotein A (30630) EFO_0004732 2.19e-12 2.19 -12 "" -0.39 -0.22 -0.305 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 382.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CLSPN Mean reticulocyte volume (30260) EFO_0010701 6.9e-12 6.9 -12 "" 0.263 0.473 0.368 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 293.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD1 ICD10 Z46.6: Encounter for fitting and adjustment of urinary device EFO_0004542 5.17e-13 5.17 -13 12.675 oddsRatioConfidenceIntervalLower 25.255 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081265 387928 5605 17.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" NOTCH1 White blood cell leukocyte count (30000) EFO_0004308 1.2500000000000001e-22 1.25 -22 "" 1.073 1.61 1.341 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 47.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" G6PC C reactive protein (30710) EFO_0004458 1.23e-17 1.23 -17 "" 0.161 0.256 0.208 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079026 411229 411229 1445.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GIGYF1 LDL direct (30780) EFO_0004611 1.98e-16 1.98 -16 "" -0.763 -0.47 -0.616 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 153.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGF1R Arm predicted mass right (23122) EFO_0004302 1.13e-12 1.13 -12 "" -0.132 -0.075 -0.103 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 1485.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GOT1 Aspartate aminotransferase (30650) EFO_0004736 1.05e-127 1.05 -127 "" -2.209 -1.876 -2.042 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 117.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I34: Nonrheumatic mitral valve disorders EFO_0009557 1.03e-12 1.03 -12 2.464 oddsRatioConfidenceIntervalLower 3.158 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079993 386860 3369 85.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NR1H3 HDL cholesterol (30760) EFO_0004612 1.41e-32 1.41 -32 "" 0.192 0.268 0.23 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1805.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 Illnesses of mother - Breast cancer (20110) EFO_0009640 2.8299999999999997e-24 2.83 -24 1.556 oddsRatioConfidenceIntervalLower 1.695 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 684.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Trunk predicted mass (23130) EFO_0004324 8.16e-18 8.16 -18 "" -0.895 -0.562 -0.728 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 44.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" MC4R Leg fat percentage right (23111) EFO_0007800 9.02e-17 9.02 -17 "" 0.107 0.173 0.14 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078914 423666 423666 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PAPPA2 Whole body fat free mass (23101) EFO_0004995 1.99e-15 1.99 -15 "" -0.139 -0.084 -0.112 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 1621.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD1 ICD10 Z99.2: Dependence on renal dialysis EFO_0010690 2.88e-37 2.88 -37 31.226 oddsRatioConfidenceIntervalLower 52.985 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081442 385553 1868 34.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MEPE Heel Broadband ultrasound attenuation direct entry (3144) EFO_0004514 1.11e-13 1.11 -13 "" -0.387 -0.226 -0.307 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079049 246304 246304 453.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" POR Testosterone (30850) EFO_0004908 2.27e-18 2.27 -18 "" -0.072 -0.045 -0.059 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079042 373826 373826 8005.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL27A1 Standing height (50) EFO_0004339 1.28e-12 1.28 -12 "" -0.389 -0.22 -0.305 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 182.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GFI1B Mean platelet thrombocyte volume (30100) EFO_0004584 4.08e-46 4.08 -46 "" 0.427 0.564 0.495 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 586.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CLDN10 Urea (30670) EFO_0009795 1.82e-11 1.82 -11 "" 0.436 0.795 0.616 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 101.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC45A2 Ease of skin tanning - Get mildly or occasionally tanned (1727) EFO_0007009 9.23e-12 9.23 -12 1.725 oddsRatioConfidenceIntervalLower 2.018 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077604 422570 93163 263.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 High light scatter reticulocyte count (30300) EFO_0007986 4.21e-20 4.21 -20 "" 0.744 1.148 0.946 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 81.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 4.45e-15 4.45 -15 "" -2.58 -1.548 -2.064 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" KLF1 Mean corpuscular volume (30040) EFO_0004526 4.19e-26 4.19 -26 "" -1.113 -0.765 -0.939 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 99.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OR51V1 Haemoglobin concentration (30020) EFO_0004509 1.31e-13 1.31 -13 "" -0.971 -0.565 -0.768 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 75.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FLG Vitamin D (30890) EFO_0004631 3.3e-21 3.3 -21 "" 0.091 0.139 0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 6130.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" WNT1 Speed of sound through heel right (4122) EFO_0005654 1.7e-11 1.7 -11 "" -0.598 -0.328 -0.463 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079156 166358 166358 167.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A3 Direct bilirubin (30660) EFO_0004570 1.99e-11 1.99 -11 "" 0.101 0.185 0.143 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1843.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" E2F4 Mean corpuscular volume (30040) EFO_0004526 4.66e-24 4.66 -24 "" 1.468 2.174 1.821 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 24.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.43e-128 2.43 -128 "" -2.53 -2.149 -2.339 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 98.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OCA2 Skin colour - Light olive (1717) EFO_0003784 4.46e-35 4.46 -35 0.369 oddsRatioConfidenceIntervalLower 0.433 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 145.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" E2F8 Mean reticulocyte volume (30260) EFO_0010701 1.24e-14 1.24 -14 "" 0.319 0.536 0.428 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 272.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MLH1 ICD10 C18: Malignant neoplasm of colon EFO_1001950 7.04e-21 7.04 -21 54.27 oddsRatioConfidenceIntervalLower 125.102 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079581 387657 3899 16.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN HF (RGC) EFO_0003144 1.95e-21 1.95 -21 2.085 oddsRatioConfidenceIntervalLower 2.425 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081485 387050 8159 226.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLCN Non cancer illness code self reported - spontaneous pneumothorax recurrent pneumothorax HP_0002108 2.25e-17 2.25 -17 57.01 oddsRatioConfidenceIntervalLower 145.144 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077685 331754 1058 12.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SMAD6 3mm weak meridian right (5099) EFO_0004731 4.23e-15 4.23 -15 "" 0.559 0.931 0.745 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 89.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IQGAP2 Platelet count (30080) EFO_0004309 1.9e-34 1.9 -34 "" -0.328 -0.237 -0.283 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1431.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HNF1A ICD10 E11: Type 2 diabetes mellitus MONDO_0005148 1.58e-11 1.58 -11 5.739 oddsRatioConfidenceIntervalLower 9.539 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079742 385300 27324 29.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MFRP SphericalEquivalent r started wearing glasses contacts before 40 (RGC) EFO_0004731 8.47e-16 8.47 -16 "" 0.346 0.568 0.457 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081513 48976 48976 273.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OR6K2 Mean sphered cell volume (30270) EFO_0004526 1.49e-13 1.49 -13 "" 0.077 0.132 0.105 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 4192.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 4.2e-22 4.2 -22 2.173 oddsRatioConfidenceIntervalLower 2.543 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 210.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SCUBE3 Leg predicted mass right (23114) EFO_0004302 6.45e-13 6.45 -13 "" -0.153 -0.087 -0.12 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 1216.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANGPTL3 Triglycerides (30870) EFO_0004530 1.54e-23 1.54 -23 "" -0.788 -0.53 -0.659 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 186.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FLG Vitamin D (30890) EFO_0004631 3.3e-21 3.3 -21 "" 0.091 0.139 0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 6130.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC1R Use of sun uv protection - Always (2267) EFO_0010729 3.39e-18 3.39 -18 1.308 oddsRatioConfidenceIntervalLower 1.389 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078882 430409 96475 1577.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IFT140 ICD10 Q61: Cystic kidney disease EFO_0008615 5.13e-14 5.13 -14 12.996 oddsRatioConfidenceIntervalLower 25.339 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 17.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CD36 Platelet distribution width (30110) EFO_0007984 8.91e-16 8.91 -16 "" 0.136 0.224 0.18 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1621.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SCUBE3 Arm predicted mass right (23122) EFO_0004302 5.65e-14 5.65 -14 "" -0.117 -0.069 -0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 2062.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Cholesterol (30690) EFO_0004574 1.6e-43 1.6 -43 "" 0.291 0.387 0.339 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 1452.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ASGR1 Cholesterol (30690) EFO_0004574 1.02e-11 1.02 -11 "" -0.29 -0.16 -0.225 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 765.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EGFL8 ICD10 L40: Psoriasis EFO_0000676 5.43e-19 5.43 -19 2.354 oddsRatioConfidenceIntervalLower 2.843 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080349 383252 5629 144.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANGPTL3 Apolipoprotein B (30640) EFO_0004615 1.7e-11 1.7 -11 "" -0.271 -0.149 -0.21 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 865.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MAS1 Lipoprotein A (30790) EFO_0006925 1.54e-11 1.54 -11 "" 0.2 0.364 0.282 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079034 329317 329317 573.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 ICD10 Z45: Encounter for adjustment and management of implanted device EFO_0004542 3.33e-13 3.33 -13 13.769 oddsRatioConfidenceIntervalLower 27.893 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081264 387920 4136 16.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" TET2 ICD10 D69.6: Thrombocytopenia, unspecified HP_0001873 9.52e-12 9.52 -12 4.308 oddsRatioConfidenceIntervalLower 6.558 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079714 387579 1788 34.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 ICD10 C50: Malignant neoplasm of breast EFO_0003869 3.19e-28 3.19 -28 5.718 oddsRatioConfidenceIntervalLower 7.797 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 76.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A6 Direct bilirubin (30660) EFO_0004570 9.88e-12 9.88 -12 "" 0.283 0.511 0.397 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 245.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SPTA1 Direct bilirubin (30660) EFO_0004570 1.8399999999999998e-23 1.84 -23 "" 0.397 0.591 0.494 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 269.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" THBS3 Sitting height (20015) EFO_0011011 4.86e-12 4.86 -12 "" -0.124 -0.069 -0.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 2274.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RRBP1 Apolipoprotein B (30640) EFO_0004615 5.67e-12 5.67 -12 "" -0.338 -0.189 -0.263 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 570.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APC ICD10 D13: Benign neoplasm of other and ill-defined parts of digestive system EFO_0002422 1.33e-14 1.33 -14 14.392 oddsRatioConfidenceIntervalLower 28.366 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079664 387696 1532 17.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" CHD2 ICD10 C91: Lymphoid leukemia EFO_0004289 1.08e-11 1.08 -11 10.317 oddsRatioConfidenceIntervalLower 20.224 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 16.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYRP1 Hair colour natural before greying - Blonde (1747) EFO_0007822 2.9099999999999998e-30 2.91 -30 4.333 oddsRatioConfidenceIntervalLower 5.572 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 126.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I50.0: Congestive heart failure (I50.0) EFO_0000373 4.89e-22 4.89 -22 4.014 oddsRatioConfidenceIntervalLower 5.323 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080020 387930 3182 76.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GATA5 Forced vital capacity FVC Z score (20257) EFO_0004312 5.45e-16 5.45 -16 "" 0.077 0.127 0.102 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078389 343302 343302 5762.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 1.59e-22 1.59 -22 4.295 oddsRatioConfidenceIntervalLower 5.755 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 74.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IFRD2 Immature reticulocyte fraction (30280) EFO_0010700 6.59e-40 6.59 -40 "" 0.126 0.169 0.147 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 7383.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" A1CF Apolipoprotein B (30640) EFO_0004615 3.63e-13 3.63 -13 "" 0.049 0.085 0.067 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 9907.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Impedance of arm left (23110) HP_0000924 6.69e-15 6.69 -15 "" -0.209 -0.125 -0.167 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IQGAP2 High light scatter reticulocyte percentage (30290) EFO_0010700 1.08e-12 1.08 -12 "" 0.075 0.131 0.103 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 4242.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Y43.3: Adverse effects in the therapeutic use of other antineoplastic drugs (Y43.3) EFO_0000546 5.15e-13 5.15 -13 4.532 oddsRatioConfidenceIntervalLower 6.829 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081150 387930 2845 36.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SPTA1 Mean sphered cell volume (30270) EFO_0004526 7.41e-34 7.41 -34 "" -0.675 -0.488 -0.581 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 365.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TG Non cancer illness code self reported - hypothyroidism myxoedema EFO_1001055 2.08e-12 2.08 -12 1.914 oddsRatioConfidenceIntervalLower 2.294 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 165.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PRSS56 6mm weak meridian left (5097) EFO_0004731 1.02e-11 1.02 -11 "" 0.345 0.623 0.484 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079274 89735 89735 159.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LTBP3 Standing height (50) EFO_0004339 8.16e-14 8.16 -14 "" -0.105 -0.061 -0.083 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2723.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" DENND2C Mean platelet thrombocyte volume (30100) EFO_0004584 4.2900000000000003e-47 4.29 -47 "" 0.093 0.122 0.107 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 13501.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Arm fat free mass left (23125) EFO_0004995 1.07e-16 1.07 -16 "" -0.078 -0.048 -0.063 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 5843.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 3mm strong meridian right (5132) EFO_0004731 5.36e-19 5.36 -19 "" 0.6 0.939 0.77 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079298 103540 103540 108.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 ICD10 C77: Secondary and unspecified malignant neoplasm of lymph nodes MONDO_0024339 8.93e-12 8.93 -12 1.798 oddsRatioConfidenceIntervalLower 2.127 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079620 387882 7019 169.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TFRC Red blood cell erythrocyte count (30010) EFO_0004305 2.76e-24 2.76 -24 "" 0.689 1.018 0.853 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 87.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GHRH Trunk predicted mass (23130) EFO_0004324 2.03e-15 2.03 -15 "" -0.465 -0.281 -0.373 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 143.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RHAG Glycated haemoglobin HbA1c (30750) EFO_0004541 1.18e-50 1.18 -50 "" -1.03 -0.791 -0.91 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 207.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CRISPLD2 Standing height (50) EFO_0004339 1.36e-25 1.36 -25 "" -0.121 -0.083 -0.102 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 3504.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A6 Direct bilirubin (30660) EFO_0004570 2.65e-43 2.65 -43 "" 0.368 0.49 0.429 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 863.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TYR Hair colour natural before greying - Blonde (1747) EFO_0007822 1.0199999999999999e-23 1.02 -23 2.107 oddsRatioConfidenceIntervalLower 2.437 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 290.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 9.03e-20 9.03 -20 "" -2.552 -1.648 -2.1 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 21.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" UGT1A3 Total bilirubin (30840) EFO_0004570 5.13e-16 5.13 -16 "" 0.331 0.542 0.437 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9811 9811 334.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Pulse rate automated reading (102) EFO_0004326 5.37e-34 5.37 -34 "" 0.131 0.182 0.157 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 5669.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MIP ICD10 H25: Age-related cataract HP_0011141 2.34e-15 2.34 -15 9.657 oddsRatioConfidenceIntervalLower 16.924 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079889 387782 12614 26.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z80.3: Family history of malignant neoplasm of breast EFO_0009640 6.94e-62 6.94 -62 14.813 oddsRatioConfidenceIntervalLower 20.363 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081331 386034 2022 82.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SCUBE3 Standing height (50) EFO_0004339 5.13e-16 5.13 -16 "" -0.533 -0.325 -0.429 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 121.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" JAK2 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 4.19e-149 4.19 -149 27.539 oddsRatioConfidenceIntervalLower 35.357 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 144.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IRS1 Arm predicted mass right (23122) EFO_0004302 1.2199999999999999e-23 1.22 -23 "" -0.568 -0.382 -0.475 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 140.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Apolipoprotein A (30630) EFO_0004732 1.34e-18 1.34 -18 "" 0.179 0.281 0.23 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1058.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 Illnesses of mother - Breast cancer (20110) EFO_0009640 2.37e-20 2.37 -20 2.223 oddsRatioConfidenceIntervalLower 2.633 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 194.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Hand grip strength right (47) EFO_0006941 9.69e-13 9.69 -13 "" -0.08 -0.045 -0.062 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079219 429337 429337 5940.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 5.47e-12 5.47 -12 2.783 oddsRatioConfidenceIntervalLower 3.723 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 84.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EGFL8 ICD10 L40.9: Psoriasis, unspecified EFO_0000676 5.39e-12 5.39 -12 2.633 oddsRatioConfidenceIntervalLower 3.467 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080348 386981 2364 69.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ITGA2B Mean platelet thrombocyte volume (30100) EFO_0004584 1.29e-14 1.29 -14 "" 0.281 0.472 0.376 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 300.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN ICD10 I50.1: Left ventricular failure, unspecified EFO_0003144 1.85e-15 1.85 -15 2.382 oddsRatioConfidenceIntervalLower 2.95 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080021 387725 4762 115.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NRK Standing height (50) EFO_0004339 4.83e-15 4.83 -15 "" 0.135 0.225 0.18 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 462.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ESR1 Standing height (50) EFO_0004339 1.76e-11 1.76 -11 "" 0.028 0.051 0.04 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 9952.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MYD88 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 5.29e-20 5.29 -20 35.87 oddsRatioConfidenceIntervalLower 77.175 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 16.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MEPE Heel bone mineral density BMD (3148) EFO_0009270 2.51e-38 2.51 -38 "" -0.418 -0.308 -0.363 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 985.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RAB32 Hair colour natural before greying - Blonde (1747) EFO_0007822 1.07e-17 1.07 -17 2.503 oddsRatioConfidenceIntervalLower 3.088 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 150.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KALRN Mean platelet thrombocyte volume (30100) EFO_0004584 3.27e-20 3.27 -20 "" -0.078 -0.051 -0.064 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 15509.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Body mass index BMI (21001) EFO_0004340 1.78e-26 1.78 -26 "" 0.231 0.335 0.283 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078684 429633 429633 1222.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NOTCH1 Type of Cancer: Chronic lymphocytic leukemia of B-cell type (40006) EFO_0000095 6.270000000000001e-27 6.27 -27 480.545 oddsRatioConfidenceIntervalLower 1482.21 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079124 74230 571 14.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Impedance of arm left (23110) HP_0000924 1.2800000000000001e-21 1.28 -21 "" 0.066 0.1 0.083 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 5849.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Trunk predicted mass (23130) EFO_0004324 3.08e-16 3.08 -16 "" 0.279 0.455 0.367 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 157.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYRP1 Hair colour natural before greying - Blonde (1747) EFO_0007822 1.8e-15 1.8 -15 6.364 oddsRatioConfidenceIntervalLower 10.041 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 42.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC34A3 Phosphate (30810) EFO_0010968 3.27e-27 3.27 -27 "" -0.259 -0.179 -0.219 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 2145.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 ICD10 Z99.2: Dependence on renal dialysis EFO_0010690 1.23e-35 1.23 -35 60.22 oddsRatioConfidenceIntervalLower 114.732 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081442 385553 1868 26.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" ASXL1 ICD10 C92: Myeloid leukemia EFO_0002427 2.52e-12 2.52 -12 6.411 oddsRatioConfidenceIntervalLower 10.784 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 24.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MSH2 ICD10 Z80.0: Family history of malignant neoplasm of digestive organs EFO_0009640 3.27e-16 3.27 -16 30.302 oddsRatioConfidenceIntervalLower 68.735 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081329 385471 9455 15.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" TNFRSF13B Total protein (30860) EFO_0004536 1.19e-11 1.19 -11 "" -0.357 -0.197 -0.277 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 534.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GHRH Sitting height (20015) EFO_0011011 2.58e-14 2.58 -14 "" -0.524 -0.31 -0.417 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 146.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A4 Total bilirubin (30840) EFO_0004570 5.48e-15 5.48 -15 "" 0.31 0.517 0.414 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9811 9811 347.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Basal metabolic rate (23105) EFO_0007777 1.87e-11 1.87 -11 "" 0.212 0.387 0.3 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 177.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" WNT1 Heel broadband ultrasound attenuation left (4101) EFO_0004514 8.08e-12 8.08 -12 "" -0.602 -0.334 -0.468 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079149 166276 166276 164.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PAPPA2 Whole body fat free mass (23101) EFO_0004995 8.5e-12 8.5 -12 "" -0.295 -0.163 -0.229 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 285.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 4.32e-15 4.32 -15 11.598 oddsRatioConfidenceIntervalLower 21.393 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 20.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CYB561D2 Reticulocyte percentage (30240) EFO_0010700 9.57e-13 9.57 -13 "" 0.078 0.137 0.108 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 3894.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NPC1L1 LDL direct (30780) EFO_0004611 8.690000000000001e-21 8.69 -21 "" -0.171 -0.112 -0.142 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 3787.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Impedance of leg left (23108) HP_0000924 3.11e-17 3.11 -17 "" 0.083 0.133 0.108 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078911 424020 424020 4408.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 2.1200000000000002e-29 2.12 -29 6.775 oddsRatioConfidenceIntervalLower 9.454 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 67.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SF3B1 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 1.74e-14 1.74 -14 30.298 oddsRatioConfidenceIntervalLower 72.451 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 12.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SCUBE3 Leg fat free mass right (23113) EFO_0004995 1.76e-11 1.76 -11 "" -0.112 -0.062 -0.087 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 2062.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RNF10 High light scatter reticulocyte count (30300) EFO_0007986 2.79e-12 2.79 -12 "" 0.505 0.899 0.702 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 85.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APC ICD10 Z09.0: Follow-up examination after surgery for other conditions (Z09.0) EFO_0004542 1.39e-11 1.39 -11 12.039 oddsRatioConfidenceIntervalLower 24.77 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081201 387930 5895 15.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" COL27A1 Standing height (50) EFO_0004339 1.28e-12 1.28 -12 "" -0.389 -0.22 -0.305 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 182.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 4.6200000000000004e-29 4.62 -29 6.836 oddsRatioConfidenceIntervalLower 9.573 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 65.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC4A1 High light scatter reticulocyte count (30300) EFO_0007986 7.21e-13 7.21 -13 "" 0.255 0.447 0.351 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 359.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CYP2R1 Vitamin D (30890) EFO_0004631 8.21e-20 8.21 -20 "" -0.341 -0.22 -0.28 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 965.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Platelet distribution width (30110) EFO_0007984 1.7499999999999998e-30 1.75 -30 "" 0.219 0.309 0.264 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1517.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TMPRSS6 Mean corpuscular haemoglobin (30050) EFO_0004527 6.78e-67 6.78 -67 "" -0.4 -0.319 -0.36 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 1822.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 2.4099999999999997e-61 2.41 -61 "" -1.45 -1.143 -1.297 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9830 9830 139.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GP1BA Platelet count (30080) EFO_0004309 2.75e-30 2.75 -30 "" -1.224 -0.866 -1.045 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 91.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" COL8A2 Impedance of arm left (23110) HP_0000924 2.85e-15 2.85 -15 "" 0.218 0.362 0.29 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 322.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LDLR LDL direct (30780) EFO_0004611 8.28e-76 8.28 -76 "" 0.371 0.46 0.415 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 1784.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EPB41 High light scatter reticulocyte percentage (30290) EFO_0010700 2.44e-14 2.44 -14 "" 0.399 0.675 0.537 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 178.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z92.3: Personal history of irradiation EFO_0000352 4.13e-16 4.13 -16 3.949 oddsRatioConfidenceIntervalLower 5.499 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081407 387929 4774 54.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SMAD6 Ankle spacing width right (4119) EFO_0004324 1.26e-13 1.26 -13 "" 0.363 0.623 0.493 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079154 166358 166358 151.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF1R Arm fat free mass left (23125) EFO_0004995 7.48e-12 7.48 -12 "" -0.132 -0.073 -0.102 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 1485.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPTA1 Mean sphered cell volume (30270) EFO_0004526 7.41e-34 7.41 -34 "" -0.675 -0.488 -0.581 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 365.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS17 Forced expiratory volume in 1 second FEV1 Best measure (20150) EFO_0004314 4.6e-12 4.6 -12 "" -0.11 -0.061 -0.086 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078316 322002 322002 3138.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" JAK2 Neutrophil percentage (30200) EFO_0007990 7.91e-12 7.91 -12 "" 0.099 0.179 0.139 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078997 418454 418454 2163.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHTF18 Mean reticulocyte volume (30260) EFO_0010701 2.78e-13 2.78 -13 "" 0.159 0.275 0.217 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 949.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Trunk predicted mass (23130) EFO_0004324 5.92e-18 5.92 -18 "" -0.079 -0.05 -0.064 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 5839.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LRP5 Heel bone mineral density BMD (3148) EFO_0009270 6.71e-14 6.71 -14 "" -0.763 -0.447 -0.605 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 120.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC1R Use of sun uv protection - Always (2267) EFO_0010729 3.39e-18 3.39 -18 1.308 oddsRatioConfidenceIntervalLower 1.389 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078882 430409 96475 1577.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHEK2 Lymphocyte count (30120) EFO_0004587 3.62e-25 3.62 -25 "" 0.099 0.145 0.122 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 6980.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Whole body water mass (23102) EFO_0009805 5.42e-27 5.42 -27 "" 0.125 0.18 0.153 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 1595.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR ICD10 I25: Chronic ischemic heart disease EFO_0003777 1.12e-24 1.12 -24 2.208 oddsRatioConfidenceIntervalLower 2.568 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079982 387110 32706 263.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C77.3: Secondary and unspecified malignant neoplasm of axilla and upper limb lymph nodes MONDO_0024339 2.32e-14 2.32 -14 3.198 oddsRatioConfidenceIntervalLower 4.31 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079618 387930 2725 62.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CXCL2 Lymphocyte percentage (30180) EFO_0007993 6.76e-13 6.76 -13 "" 0.482 0.843 0.662 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 102.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SRSF2 HDL cholesterol (30760) EFO_0004612 4.09e-14 4.09 -14 "" -0.604 -0.355 -0.48 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 166.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPHK1 Immature reticulocyte fraction (30280) EFO_0010700 3.0600000000000003e-21 3.06 -21 "" -0.141 -0.093 -0.117 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 5986.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MFSD2B Mean platelet thrombocyte volume (30100) EFO_0004584 1.79e-20 1.79 -20 "" -0.132 -0.086 -0.109 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 5852.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Whole body water mass (23102) EFO_0009805 6.85e-23 6.85 -23 "" -0.131 -0.087 -0.109 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 2643.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGF1R Sitting height (20015) EFO_0011011 2.15e-18 2.15 -18 "" -0.183 -0.116 -0.15 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 1506.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Pulse rate (4194) EFO_0004326 6.85e-14 6.85 -14 "" 0.112 0.191 0.151 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079160 173103 173103 2342.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASXL1 Monocyte count (30130) EFO_0005091 1e-12 10.0 -13 "" 0.075 0.131 0.103 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 3854.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 Age stopped smoking (2897) EFO_0004319 4.25e-13 4.25 -13 "" 0.275 0.479 0.377 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078969 108447 108447 336.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NR1H3 Apolipoprotein A (30630) EFO_0004732 2.53e-12 2.53 -12 "" 0.101 0.18 0.14 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1790.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD2 Cystatin C (30720) EFO_0004617 1.66e-12 1.66 -12 "" 0.611 1.081 0.846 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 47.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" TET2 Haematocrit percentage (30030) EFO_0004348 7.12e-15 7.12 -15 "" -0.178 -0.106 -0.142 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1794.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GIGYF1 Townsend deprivation index at recruitment (189) EFO_0009711 5.13e-13 5.13 -13 "" 0.406 0.708 0.557 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077617 430494 430494 158.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GCK OralDiabetes Med (RGC) EFO_0007010 1.42e-12 1.42 -12 18.024 oddsRatioConfidenceIntervalLower 40.126 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081503 320758 13132 15.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PCSK9 Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 1.26e-14 1.26 -14 0.254 oddsRatioConfidenceIntervalLower 0.36 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 22.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Non cancer illness code self reported - atrial fibrillation EFO_0000275 6.26e-13 6.26 -13 4.515 oddsRatioConfidenceIntervalLower 6.808 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077881 331754 3921 37.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" UGT1A8 Direct bilirubin (30660) EFO_0004570 2.7500000000000003e-37 2.75 -37 "" 0.341 0.464 0.402 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 838.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANKRD12 Usual walking pace - Slow pace (924) EFO_0008002 1.43e-11 1.43 -11 3.013 oddsRatioConfidenceIntervalLower 4.149 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079509 428255 34629 60.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MSH2 ICD10 Z12.1: Encounter for screening for malignant neoplasm of intestinal tract EFO_0004542 3.77e-17 3.77 -17 12.945 oddsRatioConfidenceIntervalLower 23.495 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081207 387867 8319 23.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" EGLN2 Haemoglobin concentration (30020) EFO_0004509 7.89e-18 7.89 -18 "" 0.152 0.241 0.196 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1072.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPHK1 Reticulocyte count (30250) EFO_0007986 9.629999999999999e-28 9.63 -28 "" -0.151 -0.105 -0.128 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 6367.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BTN2A2 High light scatter reticulocyte count (30300) EFO_0007986 4.47e-13 4.47 -13 "" -0.095 -0.055 -0.075 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 8175.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Haematocrit percentage (30030) EFO_0004348 1.64e-27 1.64 -27 "" -1.101 -0.764 -0.932 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 4.28e-12 4.28 -12 "" 0.145 0.26 0.203 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 165.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" EPB42 Mean sphered cell volume (30270) EFO_0004526 2.3e-13 2.3 -13 "" -0.286 -0.166 -0.226 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 863.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTA1 Total bilirubin (30840) EFO_0004570 2.2e-26 2.2 -26 "" 0.357 0.519 0.438 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 365.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CETP Apolipoprotein A (30630) EFO_0004732 1.6199999999999998e-48 1.62 -48 "" 0.4 0.523 0.462 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 739.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" E2F4 Mean corpuscular haemoglobin (30050) EFO_0004527 4.04e-13 4.04 -13 "" 0.454 0.79 0.622 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 106.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LCORL Trunk fat free mass (23129) EFO_0004995 1.56e-16 1.56 -16 "" 0.222 0.36 0.291 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 257.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TERT Mean corpuscular volume (30040) EFO_0004526 3.94e-21 3.94 -21 "" 0.416 0.634 0.525 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 250.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CXCL6 Neutrophil count (30140) EFO_0004833 1.8999999999999998e-24 1.9 -24 "" -0.146 -0.099 -0.122 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 6166.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ENPP1 Phosphate (30810) EFO_0010968 1.4e-12 1.4 -12 "" -0.423 -0.239 -0.331 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 403.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SF3B1 Red blood cell erythrocyte count (30010) EFO_0004305 1.05e-31 1.05 -31 "" -0.541 -0.386 -0.463 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 394.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RASGRP2 Lymphocyte count (30120) EFO_0004587 6.08e-18 6.08 -18 "" 0.189 0.3 0.244 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 1097.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Arm fat free mass right (23121) EFO_0004995 4.2900000000000005e-27 4.29 -27 "" -0.14 -0.097 -0.118 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 2642.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBA2 Mean corpuscular volume (30040) EFO_0004526 1.13e-20 1.13 -20 "" -1.593 -1.04 -1.317 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 39.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB LipidLowering Med (RGC) EFO_0007010 3.97e-12 3.97 -12 0.651 oddsRatioConfidenceIntervalLower 0.735 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 341.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 4.25e-28 4.25 -28 9.916 oddsRatioConfidenceIntervalLower 14.929 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 44.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" INSC Vitamin D (30890) EFO_0004631 1.63e-22 1.63 -22 "" -0.302 -0.201 -0.252 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 1380.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HK1 Glycated haemoglobin HbA1c (30750) EFO_0004541 7.23e-15 7.23 -15 "" -0.742 -0.443 -0.593 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 135.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" SPTA1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.1500000000000001e-43 1.15 -43 "" -0.808 -0.608 -0.708 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 294.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ASXL1 Current tobacco smoking - Yes on most or all days (1239) EFO_0005671 1.3399999999999998e-34 1.34 -34 2.872 oddsRatioConfidenceIntervalLower 3.399 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077584 430498 33523 214.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANGPTL7 Corneal resistance factor right (5257) EFO_0010067 5.2e-13 5.2 -13 "" -0.2 -0.115 -0.157 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079336 105888 105888 1877.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RUNX1 ICD10 C92: Myeloid leukemia EFO_0002427 1.36e-13 1.36 -13 30.349 oddsRatioConfidenceIntervalLower 74.936 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 11.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LDLR Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 1.34e-16 1.34 -16 6.3 oddsRatioConfidenceIntervalLower 9.744 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 49.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PCSK9 Cholesterol (30690) EFO_0004574 9.81e-128 9.81 -128 "" -0.94 -0.798 -0.869 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 649.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANKRD12 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.96e-13 6.96 -13 "" 0.272 0.477 0.375 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 312.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANKRD12 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.96e-13 6.96 -13 "" 0.272 0.477 0.375 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 312.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS3 Impedance of arm left (23110) HP_0000924 1.41e-12 1.41 -12 "" -0.24 -0.136 -0.188 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 614.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GCK Non cancer illness code self reported - diabetes/ICD10 E14 EFO_0000400 1.41e-11 1.41 -11 15.772 oddsRatioConfidenceIntervalLower 35.106 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077723 329052 16961 15.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SCARB1 Apolipoprotein A (30630) EFO_0004732 2.07e-66 2.07 -66 "" 0.285 0.359 0.322 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 2051.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 DD Cancer - Yes (2453) EFO_0000311 7.84e-18 7.84 -18 2.767 oddsRatioConfidenceIntervalLower 3.489 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 113.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGF1R Arm fat free mass right (23121) EFO_0004995 4.56e-19 4.56 -19 "" -0.193 -0.124 -0.159 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 995.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MSH6 ICD10 C54: Malignant neoplasm of corpus uteri EFO_0007532 1.6700000000000002e-21 1.67 -21 25.222 oddsRatioConfidenceIntervalLower 49.01 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079608 211679 1515 21.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APC ICD10 D12.6: Benign neoplasm of colon, unspecified EFO_0002422 3.66e-30 3.66 -30 47.964 oddsRatioConfidenceIntervalLower 93.242 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079659 387930 2672 24.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOC3 Apolipoprotein A (30630) EFO_0004732 8.76e-35 8.76 -35 "" 0.553 0.763 0.658 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 252.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 3mm strong meridian left (5135) EFO_0004731 1.56e-15 1.56 -15 "" 0.575 0.95 0.762 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079301 103531 103531 88.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SMAD6 corneal power (RGC) EFO_0004731 4.78e-16 4.78 -16 "" 0.584 0.956 0.77 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081537 103531 103531 88.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ASXL1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.37e-34 2.37 -34 "" 0.414 0.572 0.493 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 523.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SRSF2 Platelet crit (30090) EFO_0007985 3.69e-13 3.69 -13 "" -0.598 -0.344 -0.471 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 182.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL8A2 Impedance of arm right (23109) HP_0000924 3.61e-16 3.61 -16 "" 0.227 0.37 0.299 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 322.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SPTA1 Direct bilirubin (30660) EFO_0004570 4.1200000000000004e-27 4.12 -27 "" 0.393 0.567 0.48 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 333.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANGPTL3 Cholesterol (30690) EFO_0004574 1.02e-85 1.02 -85 "" -0.49 -0.401 -0.445 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 1647.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Hand grip strength left (46) EFO_0006941 5.49e-17 5.49 -17 "" -0.104 -0.065 -0.084 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 4482.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NF1 Lymphocyte percentage (30180) EFO_0007993 5.01e-14 5.01 -14 "" -0.499 -0.293 -0.396 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 314.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NF1 Non cancer illness code self reported - other neurological problem/ICD10 G98 EFO_0000618 1.5899999999999999e-24 1.59 -24 6.465 oddsRatioConfidenceIntervalLower 9.247 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077843 329052 1701 52.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" DTL Standing height (50) EFO_0004339 5.23e-25 5.23 -25 "" -0.593 -0.404 -0.498 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 146.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BAK1 Platelet count (30080) EFO_0004309 2.37e-19 2.37 -19 "" 0.209 0.326 0.268 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 863.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CAD Mean corpuscular volume (30040) EFO_0004526 2.86e-27 2.86 -27 "" 0.239 0.345 0.292 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1068.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ZFAT Whole body fat free mass (23101) EFO_0004995 2.92e-16 2.92 -16 "" 0.365 0.596 0.481 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 92.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ACAN Leg predicted mass right (23114) EFO_0004302 6.23e-15 6.23 -15 "" -0.853 -0.511 -0.682 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 44.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 5.6e-106 5.6 -106 "" 1.852 2.217 2.035 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FLG ICD10 L30: Other and unspecified dermatitis EFO_0000701 3.76e-13 3.76 -13 1.426 oddsRatioConfidenceIntervalLower 1.57 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080346 367319 11384 503.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPHK1 Lymphocyte count (30120) EFO_0004587 3.3e-22 3.3 -22 "" 0.09 0.136 0.113 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 6457.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASXL1 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 5.81e-14 5.81 -14 8.741 oddsRatioConfidenceIntervalLower 15.388 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 22.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 2.36e-12 2.36 -12 "" -1.602 -0.902 -1.252 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9830 9830 28.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TYRP1 Hair colour natural before greying - Blonde (1747) EFO_0007822 1.13e-71 1.13 -71 2.757 oddsRatioConfidenceIntervalLower 3.08 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 555.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FLG Non cancer illness code self reported - eczema dermatitis/ICD10 L30 EFO_0005319 1.04e-11 1.04 -11 1.611 oddsRatioConfidenceIntervalLower 1.848 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077854 329052 10233 252.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RHAG High light scatter reticulocyte percentage (30290) EFO_0010700 1.9800000000000003e-27 1.98 -27 "" 0.585 0.843 0.714 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 203.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" DDR2 Standing height (50) EFO_0004339 1.28e-12 1.28 -12 "" -0.718 -0.407 -0.563 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 54.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LIPC Apolipoprotein A (30630) EFO_0004732 7.490000000000001e-33 7.49 -33 "" 0.272 0.379 0.326 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 977.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LCAT HDL cholesterol (30760) EFO_0004612 1.1500000000000001e-29 1.15 -29 "" -1.474 -1.039 -1.256 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 57.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASXL1 Smoking status - Never (20116) EFO_0006527 2.12e-30 2.12 -30 0.491 oddsRatioConfidenceIntervalLower 0.554 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078300 429255 232790 375.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SHBG SHBG (30830) EFO_0004696 8.82e-16 8.82 -16 "" -1.479 -0.899 -1.189 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 33.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" SLC45A2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 5.13e-33 5.13 -33 0.35 oddsRatioConfidenceIntervalLower 0.416 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 162.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC45A2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 5.13e-33 5.13 -33 0.35 oddsRatioConfidenceIntervalLower 0.416 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 162.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PAPPA2 Arm predicted mass right (23122) EFO_0004302 1.25e-13 1.25 -13 "" -0.117 -0.068 -0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 2007.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I50.0: Congestive heart failure (I50.0) EFO_0000373 8.83e-17 8.83 -17 2.553 oddsRatioConfidenceIntervalLower 3.183 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080020 387930 3182 110.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 6mm weak meridian right (5098) EFO_0004731 1.8e-11 1.8 -11 "" 0.485 0.884 0.685 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079275 90887 90887 77.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 Illnesses of mother - None of the above group 2 (20110) EFO_0000493 2.21e-14 2.21 -14 0.651 oddsRatioConfidenceIntervalLower 0.726 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078283 423686 308506 920.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC4A1 Mean reticulocyte volume (30260) EFO_0010701 6.65e-16 6.65 -16 "" -0.161 -0.098 -0.13 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 3262.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB High light scatter reticulocyte count (30300) EFO_0007986 2.49e-15 2.49 -15 "" 0.575 0.954 0.765 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9690 9690 99.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" THBS3 Standing height (50) EFO_0004339 1.17e-11 1.17 -11 "" -0.077 -0.042 -0.059 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 4475.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GP1BB Platelet distribution width (30110) EFO_0007984 2.5300000000000003e-21 2.53 -21 "" 0.933 1.42 1.177 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 52.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SH2B3 Platelet count (30080) EFO_0004309 1.55e-78 1.55 -78 "" 0.326 0.402 0.364 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 2047.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FLG Age hay fever rhinitis or eczema diagnosed (3761) EFO_0003956 6.22e-20 6.22 -20 "" -0.271 -0.176 -0.224 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079072 88602 88602 1529.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GP1BB Platelet crit (30090) EFO_0007985 1.46e-15 1.46 -15 "" -1.202 -0.728 -0.965 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 52.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC1R Hair colour natural before greying - Red (1747) EFO_0007822 4.93e-56 4.93 -56 8.702 oddsRatioConfidenceIntervalLower 11.387 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 108.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FLG Non cancer illness code self reported - asthma/ICD10 J45 MONDO_0004979 5.95e-14 5.95 -14 1.23 oddsRatioConfidenceIntervalLower 1.298 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077672 329051 45415 1748.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC45A2 Skin colour - Light olive (1717) EFO_0003784 1.37e-90 1.37 -90 0.287 oddsRatioConfidenceIntervalLower 0.324 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077599 425361 80996 223.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CUBN Microalbumin in urine (30500) EFO_0010967 3.98e-15 3.98 -15 "" 0.176 0.293 0.234 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 1083.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 Ankle spacing width (3143) EFO_0004324 9.54e-25 9.54 -25 "" 0.451 0.664 0.558 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 215.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACAN Leg fat free mass right (23113) EFO_0004995 3.18e-16 3.18 -16 "" -0.745 -0.457 -0.601 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 63.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" WNT1 Heel Broadband ultrasound attenuation direct entry (3144) EFO_0004514 6.14e-14 6.14 -14 "" -0.541 -0.317 -0.429 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079049 246304 246304 236.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 DD Cancer - Yes (2453) EFO_0000311 1.1e-31 1.1 -31 2.564 oddsRatioConfidenceIntervalLower 3.002 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 240.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SPTA1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.72e-47 1.72 -47 "" -0.755 -0.575 -0.665 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 364.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Arm fat free mass right (23121) EFO_0004995 1.67e-13 1.67 -13 "" 0.189 0.327 0.258 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 257.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PIEZO1 Trunk predicted mass (23130) EFO_0004324 1.54e-12 1.54 -12 "" -0.075 -0.042 -0.058 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 4680.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LCORL Leg fat free mass left (23117) EFO_0004995 1.22e-13 1.22 -13 "" 0.2 0.344 0.272 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 257.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" INSC Speed of sound through heel right (4122) EFO_0005654 2.57e-12 2.57 -12 "" 0.064 0.113 0.088 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079156 166358 166358 5126.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 2.4099999999999997e-61 2.41 -61 "" -1.45 -1.143 -1.297 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9830 9830 139.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GRAMD2 Sitting height (20015) EFO_0011011 5.22e-16 5.22 -16 "" 0.041 0.067 0.054 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 10066.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Arm fat free mass left (23125) EFO_0004995 1.77e-12 1.77 -12 "" 0.249 0.441 0.345 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 138.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" KLF1 Mean corpuscular volume (30040) EFO_0004526 5.799999999999999e-75 5.8 -75 "" -0.961 -0.775 -0.868 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 348.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ENG ICD10 I78: Diseases of capillaries EFO_0004264 5.78e-17 5.78 -17 26.986 oddsRatioConfidenceIntervalLower 58.381 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 15.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Reticulocyte percentage (30240) EFO_0010700 7.12e-22 7.12 -22 "" 0.187 0.282 0.234 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1495.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GOT1 Aspartate aminotransferase (30650) EFO_0004736 1.6999999999999999e-233 1.7 -233 "" -1.253 -1.111 -1.182 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 644.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 Illnesses of mother - None of the above group 2 (20110) EFO_0000493 1.11e-15 1.11 -15 0.519 oddsRatioConfidenceIntervalLower 0.609 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078283 423686 308506 376.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CD36 HDL cholesterol (30760) EFO_0004612 7.15e-18 7.15 -18 "" 0.143 0.227 0.185 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1472.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LIPG HDL cholesterol (30760) EFO_0004612 6.9e-27 6.9 -27 "" 0.218 0.316 0.267 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1087.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR CAD Loose CC (RGC) EFO_0001645 1.2299999999999998e-23 1.23 -23 2.318 oddsRatioConfidenceIntervalLower 2.732 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081465 387011 33971 227.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Ankle spacing width (3143) EFO_0004324 7.56e-14 7.56 -14 "" 0.169 0.289 0.229 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 677.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean reticulocyte volume (30260) EFO_0010701 4.76e-47 4.76 -47 "" -1.529 -1.163 -1.346 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 96.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IRS1 Leg predicted mass right (23114) EFO_0004302 7.65e-18 7.65 -18 "" -0.52 -0.327 -0.424 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 140.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Cystatin C (30720) EFO_0004617 3.37e-14 3.37 -14 "" 0.119 0.202 0.16 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 1516.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ZNF770 SHBG (30830) EFO_0004696 1.71e-17 1.71 -17 "" 0.796 1.272 1.034 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 46.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANGPTL4 Triglycerides (30870) EFO_0004530 1.67e-44 1.67 -44 "" -0.409 -0.308 -0.359 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 1238.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CALR Red blood cell erythrocyte count (30010) EFO_0004305 8.28e-24 8.28 -24 "" -1.117 -0.753 -0.935 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 71.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NF1 SHBG (30830) EFO_0004696 7.33e-13 7.33 -13 "" 0.104 0.182 0.143 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 1836.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PCSK9 LDL direct (30780) EFO_0004611 1.16e-163 1.16 -163 "" -1.072 -0.928 -1.0 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 647.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Arm predicted mass left (23126) EFO_0004302 7.3e-16 7.3 -16 "" -0.076 -0.046 -0.061 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 5843.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" OCA2 Hair colour natural before greying - Blonde (1747) EFO_0007822 2.3799999999999998e-45 2.38 -45 7.065 oddsRatioConfidenceIntervalLower 9.266 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 123.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Haemoglobin concentration (30020) EFO_0004509 1.27e-133 1.27 -133 "" -2.008 -1.712 -1.86 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 98.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RHAG Mean sphered cell volume (30270) EFO_0004526 4.5400000000000004e-29 4.54 -29 "" -0.33 -0.232 -0.281 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 1330.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 3.33e-13 3.33 -13 2.556 oddsRatioConfidenceIntervalLower 3.29 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 85.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGF1R IGF 1 (30770) EFO_0004627 1.07e-13 1.07 -13 "" 0.369 0.633 0.501 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 175.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" SCUBE3 Leg fat free mass right (23113) EFO_0004995 1.76e-11 1.76 -11 "" -0.112 -0.062 -0.087 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 2062.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MIP ICD10 H26: Other cataract MONDO_0005129 4.6100000000000004e-33 4.61 -33 8.018 oddsRatioConfidenceIntervalLower 11.272 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079893 384442 20291 70.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LIPG HDL cholesterol (30760) EFO_0004612 8.87e-44 8.87 -44 "" 0.392 0.522 0.457 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 620.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOA5 Triglycerides (30870) EFO_0004530 8.48e-18 8.48 -18 "" 0.336 0.535 0.436 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 320.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Reticulocyte percentage (30240) EFO_0010700 1.44e-25 1.44 -25 "" 0.191 0.279 0.235 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 1754.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOB Vitamin D (30890) EFO_0004631 1.91e-12 1.91 -12 "" 0.061 0.108 0.085 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079047 394382 394382 6427.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC22A7 Creatinine (30700) EFO_0004518 4.18e-35 4.18 -35 "" 0.2 0.275 0.237 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 1556.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PFKM Glycated haemoglobin HbA1c (30750) EFO_0004541 2.1299999999999998e-39 2.13 -39 "" -0.314 -0.232 -0.273 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 1782.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SRSF2 ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 8.580000000000001e-21 8.58 -21 17.087 oddsRatioConfidenceIntervalLower 30.973 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 24.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC4A1 Direct bilirubin (30660) EFO_0004570 8.34e-16 8.34 -16 "" 0.518 0.852 0.685 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 91.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" UGT1A9 Direct bilirubin (30660) EFO_0004570 4.8299999999999993e-42 4.83 -42 "" 0.299 0.4 0.35 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1261.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TFR2 Mean corpuscular haemoglobin (30050) EFO_0004527 3.3e-40 3.3 -40 "" 0.172 0.231 0.202 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 3379.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EP400 Hand grip strength left (46) EFO_0006941 5.26e-15 5.26 -15 "" -0.555 -0.333 -0.444 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079216 429288 429288 139.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MC4R Whole body water mass (23102) EFO_0009805 1.07e-26 1.07 -26 "" 0.142 0.206 0.174 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SEC23B Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.86e-23 2.86 -23 "" 0.248 0.37 0.309 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 880.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IFRD2 Mean reticulocyte volume (30260) EFO_0010701 9.04e-18 9.04 -18 "" -0.194 -0.122 -0.158 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 2475.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SRSF2 ICD10 D64.9: Anemia, unspecified EFO_0004272 9.7e-12 9.7 -12 4.552 oddsRatioConfidenceIntervalLower 7.041 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079711 387075 14923 35.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACO1 Red blood cell erythrocyte count (30010) EFO_0004305 3.26e-17 3.26 -17 "" 0.253 0.405 0.329 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 403.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ENG ICD10 I78: Diseases of capillaries EFO_0004264 5.78e-17 5.78 -17 26.986 oddsRatioConfidenceIntervalLower 58.381 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 15.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MYO6 Hearing difficulty problems - Yes (2247) EFO_0007616 4.26e-17 4.26 -17 1.479 oddsRatioConfidenceIntervalLower 1.62 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 789.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Sitting height (20015) EFO_0011011 6.550000000000001e-21 6.55 -21 "" -0.113 -0.074 -0.094 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 4492.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FLG AtopicDermatitis (RGC) EFO_0000274 8.8e-50 8.8 -50 1.825 oddsRatioConfidenceIntervalLower 1.976 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081462 276670 15131 822.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" AMPD3 Haematocrit percentage (30030) EFO_0004348 1.22e-11 1.22 -11 "" -0.062 -0.034 -0.048 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 11976.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 Q61: Cystic kidney disease EFO_0008615 3.08e-128 3.08 -128 260.894 oddsRatioConfidenceIntervalLower 410.258 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 68.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ZFAT Sitting height (20015) EFO_0011011 7.39e-13 7.39 -13 "" 0.263 0.461 0.362 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 172.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Eosinophil count (30150) EFO_0004842 4.24e-57 4.24 -57 "" -0.39 -0.305 -0.348 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 1791.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLCO1B3 Total bilirubin (30840) EFO_0004570 2.7899999999999997e-91 2.79 -91 "" 0.27 0.328 0.299 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 2926.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Trunk fat free mass (23129) EFO_0004995 5.6e-42 5.6 -42 "" 0.12 0.16 0.14 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 3011.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MPL Platelet count (30080) EFO_0004309 1.4300000000000002e-35 1.43 -35 "" 0.348 0.479 0.414 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 699.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PIEZO1 Sitting height (20015) EFO_0011011 1.12e-18 1.12 -18 "" -0.046 -0.03 -0.038 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 24970.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC1R Hair colour natural before greying - Black (1747) EFO_0007822 1.1800000000000001e-36 1.18 -36 0.337 oddsRatioConfidenceIntervalLower 0.399 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077610 429979 20623 102.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Leg predicted mass right (23114) EFO_0004302 2.7499999999999995e-23 2.75 -23 "" 0.197 0.294 0.245 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 554.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MLH1 Type of Cancer: Malignant neoplasm of colon (40006) EFO_1001950 1.62e-15 1.62 -15 25.997 oddsRatioConfidenceIntervalLower 57.94 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079082 74230 3309 17.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PFKM Glycated haemoglobin HbA1c (30750) EFO_0004541 2.1299999999999998e-39 2.13 -39 "" -0.314 -0.232 -0.273 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 1782.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" DOCK5 Platelet distribution width (30110) EFO_0007984 3.97e-12 3.97 -12 "" -0.382 -0.214 -0.298 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 433.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CKAP2L Mean platelet thrombocyte volume (30100) EFO_0004584 3.92e-25 3.92 -25 "" -0.591 -0.403 -0.497 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 311.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RTEL1 Mean corpuscular volume (30040) EFO_0004526 5e-18 5.0 -18 "" 0.32 0.507 0.414 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 339.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PCSK9 Apolipoprotein B (30640) EFO_0004615 4.45e-34 4.45 -34 "" -0.941 -0.68 -0.811 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8474 8474 216.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOB Treatment or Medication Code - simvastatin EFO_0007010 1.11e-12 1.11 -12 0.32 oddsRatioConfidenceIntervalLower 0.438 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078009 320758 51781 31.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TP53 DD Cancer - Yes (2453) EFO_0000311 5.47e-12 5.47 -12 2.383 oddsRatioConfidenceIntervalLower 3.05 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 96.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MEPE Heel bone mineral density BMD (3148) EFO_0009270 6.87e-15 6.87 -15 "" -0.404 -0.241 -0.323 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 453.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" R3HDM4 High light scatter reticulocyte percentage (30290) EFO_0010700 4.99e-12 4.99 -12 "" 0.345 0.618 0.481 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 181.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Platelet distribution width (30110) EFO_0007984 4.3700000000000004e-32 4.37 -32 "" 0.208 0.291 0.249 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1794.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC45A2 Skin colour - Very fair (1717) EFO_0003784 3.43e-25 3.43 -25 2.877 oddsRatioConfidenceIntervalLower 3.513 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 163.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GP1BB Mean platelet thrombocyte volume (30100) EFO_0004584 1.2599999999999999e-30 1.26 -30 "" 1.601 2.259 1.93 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 25.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SPTB Mean reticulocyte volume (30260) EFO_0010701 6.01e-19 6.01 -19 "" -0.872 -0.557 -0.715 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 129.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RTEL1 Mean reticulocyte volume (30260) EFO_0010701 2.49e-17 2.49 -17 "" 0.144 0.23 0.187 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1727.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 ICD10 C92: Myeloid leukemia EFO_0002427 4.540000000000001e-21 4.54 -21 9.853 oddsRatioConfidenceIntervalLower 15.86 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 32.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC4A1 Direct bilirubin (30660) EFO_0004570 1.71e-35 1.71 -35 "" 1.48 2.034 1.757 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 33.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" JAK2 Platelet count (30080) EFO_0004309 1.5100000000000001e-27 1.51 -27 "" 0.619 0.891 0.755 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 159.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Platelet count (30080) EFO_0004309 9.85e-18 9.85 -18 "" -0.217 -0.136 -0.177 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 1794.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PTPRJ Mean platelet thrombocyte volume (30100) EFO_0004584 7.23e-25 7.23 -25 "" -0.581 -0.395 -0.488 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 317.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ASXL1 Monocyte count (30130) EFO_0005091 2.69e-23 2.69 -23 "" 0.209 0.312 0.261 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 1165.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" KLF1 Mean sphered cell volume (30270) EFO_0004526 5.86e-31 5.86 -31 "" -0.784 -0.557 -0.671 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 246.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTA1 Mean corpuscular haemoglobin concentration (30060) EFO_0004528 2.74e-16 2.74 -16 "" 0.31 0.505 0.407 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 373.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EML4 Impedance of arm left (23110) HP_0000924 5.47e-17 5.47 -17 "" -0.141 -0.088 -0.114 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 2348.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PLA2G12A Apolipoprotein A (30630) EFO_0004732 9.64e-72 9.64 -72 "" -0.195 -0.157 -0.176 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 7472.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 Illnesses of mother - Breast cancer (20110) EFO_0009640 2.67e-14 2.67 -14 1.224 oddsRatioConfidenceIntervalLower 1.29 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 1720.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GGT1 Gamma glutamyltransferase (30730) EFO_0004532 6.95e-44 6.95 -44 "" -1.701 -1.28 -1.491 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 66.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SRSF2 High light scatter reticulocyte count (30300) EFO_0007986 3.28e-35 3.28 -35 "" 0.73 1.005 0.868 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 175.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MFSD2B Reticulocyte percentage (30240) EFO_0010700 2.51e-23 2.51 -23 "" -0.157 -0.105 -0.131 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 5757.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FERMT3 Immature reticulocyte fraction (30280) EFO_0010700 7.77e-29 7.77 -29 "" -0.13 -0.091 -0.111 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 9731.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASXL1 ICD10 Z72.0: Tobacco use EFO_0007869 3.61e-12 3.61 -12 2.045 oddsRatioConfidenceIntervalLower 2.501 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081310 377012 21842 131.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 Urea (30670) EFO_0009795 8.55e-33 8.55 -33 "" 0.578 0.806 0.692 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 252.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PCSK9 Apolipoprotein B (30640) EFO_0004615 2.77e-38 2.77 -38 "" -0.83 -0.612 -0.721 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8474 8474 308.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS10 Comparative height size at age 10 - Shorter (1697) EFO_0004339 1.53e-13 1.53 -13 1.72 oddsRatioConfidenceIntervalLower 1.986 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 305.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 ICD10 Z99.2: Dependence on renal dialysis EFO_0010690 2.2300000000000002e-29 2.23 -29 18.166 oddsRatioConfidenceIntervalLower 30.101 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081442 385553 1868 33.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" HNF1A DD DM - Yes (2443) EFO_0000400 3.72e-13 3.72 -13 6.853 oddsRatioConfidenceIntervalLower 11.518 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078949 429739 22058 28.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IL33 Asthma (RGC) MONDO_0004979 2.05e-13 2.05 -13 0.725 oddsRatioConfidenceIntervalLower 0.79 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081461 375465 61807 572.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" G6PC Triglycerides (30870) EFO_0004530 1.38e-19 1.38 -19 "" 0.167 0.26 0.213 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 1452.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PDE3B Triglycerides (30870) EFO_0004530 5e-20 5.0 -20 "" -0.33 -0.214 -0.272 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 938.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SCUBE3 Trunk predicted mass (23130) EFO_0004324 6.28e-15 6.28 -15 "" -0.121 -0.073 -0.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 2062.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GMPR Immature reticulocyte fraction (30280) EFO_0010700 3.21e-19 3.21 -19 "" 0.11 0.172 0.141 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 3713.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Monocyte percentage (30190) EFO_0007989 8.010000000000001e-31 8.01 -31 "" 0.205 0.289 0.247 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 1777.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MYD88 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 9.9e-12 9.9 -12 10.343 oddsRatioConfidenceIntervalLower 20.265 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 16.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C77: Secondary and unspecified malignant neoplasm of lymph nodes MONDO_0024339 1.0100000000000001e-29 1.01 -29 4.571 oddsRatioConfidenceIntervalLower 5.947 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079620 387882 7019 91.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GIGYF1 Glycated haemoglobin HbA1c (30750) EFO_0004541 2.82e-25 2.82 -25 "" 0.591 0.866 0.728 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 156.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR Cholesterol (30690) EFO_0004574 1.3099999999999998e-55 1.31 -55 "" 0.304 0.39 0.347 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 1787.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GP1BB Platelet count (30080) EFO_0004309 5.5e-23 5.5 -23 "" -2.058 -1.376 -1.717 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 25.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SDPR Mean platelet thrombocyte volume (30100) EFO_0004584 2.27e-19 2.27 -19 "" -0.729 -0.468 -0.599 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 162.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHEK2 ICD10 Z85.3: Personal history of malignant neoplasm of breast EFO_0000616 1.64e-19 1.64 -19 2.558 oddsRatioConfidenceIntervalLower 3.136 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081349 387922 8566 131.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A6 Total bilirubin (30840) EFO_0004570 4.79e-12 4.79 -12 "" 0.324 0.581 0.452 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 200.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CREB3L3 Triglycerides (30870) EFO_0004530 7.19e-17 7.19 -17 "" 0.226 0.365 0.296 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 645.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CASR Calcium (30680) EFO_0004838 1.65e-48 1.65 -48 "" 0.465 0.608 0.537 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 685.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Arm predicted mass left (23126) EFO_0004302 3.37e-13 3.37 -13 "" 0.243 0.422 0.333 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 157.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ALOX15 Eosinophil count (30150) EFO_0004842 7.41e-15 7.41 -15 "" -0.195 -0.116 -0.155 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078994 418449 418449 2138.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" G6PC C reactive protein (30710) EFO_0004458 1.23e-17 1.23 -17 "" 0.161 0.256 0.208 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079026 411229 411229 1445.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGF1R Trunk fat free mass (23129) EFO_0004995 1.71e-14 1.71 -14 "" -0.141 -0.084 -0.112 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 1485.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" WNT1 Heel bone mineral density BMD right (4124) EFO_0009270 1.23e-12 1.23 -12 "" -0.615 -0.349 -0.482 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079158 166266 166266 167.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOC3 LipidLowering Med (RGC) EFO_0007010 5.25e-16 5.25 -16 0.583 oddsRatioConfidenceIntervalLower 0.664 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081493 320758 78394 280.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Leg fat free mass right (23113) EFO_0004995 1e-13 10.0 -14 "" 0.256 0.439 0.347 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 157.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Red blood cell erythrocyte count (30010) EFO_0004305 4.23e-12 4.23 -12 "" -0.165 -0.092 -0.128 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 1794.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBA2 Red blood cell erythrocyte count (30010) EFO_0004305 1.07e-12 1.07 -12 "" 0.646 1.137 0.892 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 39.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZNF770 SHBG (30830) EFO_0004696 7.17e-17 7.17 -17 "" 0.611 0.987 0.799 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 74.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APC ICD10 Z93.2: Ileostomy status EFO_0002571 1.1e-21 1.1 -21 50.818 oddsRatioConfidenceIntervalLower 113.64 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081413 387887 1429 16.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACAN Standing height (50) EFO_0004339 2.96e-13 2.96 -13 "" -0.219 -0.126 -0.173 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 603.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Platelet count (30080) EFO_0004309 2.14e-13 2.14 -13 "" -0.1 -0.058 -0.079 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 6669.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KLF1 Haemoglobin concentration (30020) EFO_0004509 1.88e-16 1.88 -16 "" -0.482 -0.297 -0.389 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 250.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC1R Ease of skin tanning - Get moderately tanned (1727) EFO_0007009 4.6099999999999996e-95 4.61 -95 0.554 oddsRatioConfidenceIntervalLower 0.586 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077603 422570 173164 1621.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL8A2 Impedance of arm left (23110) HP_0000924 2.57e-12 2.57 -12 "" 0.117 0.207 0.162 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 811.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Pulse rate automated reading (102) EFO_0004326 2.3600000000000002e-26 2.36 -26 "" 0.271 0.394 0.332 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077560 408215 408215 952.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" IRS1 Leg predicted mass right (23114) EFO_0004302 7.65e-18 7.65 -18 "" -0.52 -0.327 -0.424 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 140.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" A1CF Triglycerides (30870) EFO_0004530 3.23e-25 3.23 -25 "" 0.076 0.112 0.094 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 9950.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SH2B3 White blood cell leukocyte count (30000) EFO_0004308 2.32e-16 2.32 -16 "" 0.13 0.212 0.171 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 2047.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RASA2 Lymphocyte count (30120) EFO_0004587 8.15e-15 8.15 -15 "" -0.358 -0.214 -0.286 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 649.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ZFAT Systolic blood pressure automated reading (4080) EFO_0006335 1.01e-19 1.01 -19 "" -0.124 -0.08 -0.102 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079146 408211 408211 6469.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLCN Non cancer illness code self reported - spontaneous pneumothorax recurrent pneumothorax HP_0002108 1.75e-28 1.75 -28 66.512 oddsRatioConfidenceIntervalLower 139.845 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077685 331754 1058 20.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FLG Non cancer illness code self reported - eczema dermatitis EFO_0005319 1.56e-41 1.56 -41 1.785 oddsRatioConfidenceIntervalLower 1.942 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077853 331754 12790 710.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Arm fat percentage left (23123) EFO_0007800 1.57e-12 1.57 -12 "" 0.258 0.455 0.356 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078926 423545 423545 197.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZNF770 SHBG (30830) EFO_0004696 1.8e-18 1.8 -18 "" 0.62 0.976 0.798 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 82.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Non cancer illness code self reported - angina/ICD10 I20 EFO_0003913 2.66e-15 2.66 -15 2.494 oddsRatioConfidenceIntervalLower 3.128 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077656 329052 13585 110.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" EPB41 Glycated haemoglobin HbA1c (30750) EFO_0004541 3.1500000000000004e-27 3.15 -27 "" -0.843 -0.584 -0.714 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 176.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TUBB1 Platelet distribution width (30110) EFO_0007984 2.2300000000000002e-307 2.23 -307 "" 1.772 1.953 1.862 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 382.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Trunk fat free mass (23129) EFO_0004995 3.75e-29 3.75 -29 "" 0.131 0.186 0.159 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 1594.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PIEZO1 Trunk fat free mass (23129) EFO_0004995 3.66e-19 3.66 -19 "" -0.04 -0.026 -0.033 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 24576.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PIEZO1 Trunk fat free mass (23129) EFO_0004995 9.44e-13 9.44 -13 "" -0.075 -0.043 -0.059 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 4682.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC5A2 Urate (30880) EFO_0004531 8.19e-15 8.19 -15 "" -0.187 -0.111 -0.149 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 1667.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PALB2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 1.01e-20 1.01 -20 4.663 oddsRatioConfidenceIntervalLower 6.443 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 63.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A1 Total bilirubin (30840) EFO_0004570 4.49e-17 4.49 -17 "" 0.421 0.678 0.55 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 200.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SMAD6 Ankle spacing width (3143) EFO_0004324 5.89e-19 5.89 -19 "" 0.414 0.648 0.531 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079048 246319 246319 178.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CRP C reactive protein (30710) EFO_0004458 9.23e-13 9.23 -13 "" -0.835 -0.475 -0.655 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9815 9815 101.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 ICD10 D63.165.8: Anemia in chronic kidney disease EFO_0004272 1.6e-12 1.6 -12 20.426 oddsRatioConfidenceIntervalLower 47.166 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079710 387885 936 12.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CLDN10 Creatinine (30700) EFO_0004518 4.68e-13 4.68 -13 "" 0.395 0.689 0.542 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 101.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SEC23B Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.3999999999999998e-43 2.4 -43 "" 0.506 0.673 0.589 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 466.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HSPA9 Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.77e-16 5.77 -16 "" 0.131 0.215 0.173 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1880.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Reticulocyte count (30250) EFO_0007986 1.91e-18 1.91 -18 "" 0.151 0.237 0.194 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1767.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SIX6 MeanSphericalEquivalent (RGC) EFO_0004731 1.74e-23 1.74 -23 "" -0.288 -0.194 -0.241 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081497 106495 106495 1489.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" JAK2 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.88e-39 6.88 -39 "" 0.219 0.297 0.258 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 2165.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CYB561D2 Reticulocyte percentage (30240) EFO_0010700 4.82e-13 4.82 -13 "" 0.083 0.145 0.114 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 3539.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLG ICD10 J45: Asthma MONDO_0004979 5.2e-13 5.2 -13 1.232 oddsRatioConfidenceIntervalLower 1.303 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080141 383974 39436 1513.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN HF (RGC) EFO_0003144 3.62e-23 3.62 -23 4.453 oddsRatioConfidenceIntervalLower 5.983 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081485 387050 8159 73.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 3.15e-127 3.15 -127 "" -2.408 -2.044 -2.226 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 96.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APC ICD10 Z83.7: Family history of diseases of the digestive system EFO_0000493 1.23e-11 1.23 -11 7.394 oddsRatioConfidenceIntervalLower 13.188 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081342 387433 947 20.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TRIM10 Mean reticulocyte volume (30260) EFO_0010701 1.27e-12 1.27 -12 "" 0.229 0.404 0.316 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 429.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Seated height (51) EFO_0011011 7.02e-20 7.02 -20 "" 0.532 0.823 0.678 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 93.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ADAMTS17 Standing height (50) EFO_0004339 1.3099999999999999e-52 1.31 -52 "" -0.156 -0.121 -0.139 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 4114.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SRSF2 Platelet distribution width (30110) EFO_0007984 1.2300000000000002e-21 1.23 -21 "" 0.505 0.766 0.635 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 182.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MIP ICD10 H26.9: Unspecified cataract MONDO_0005129 1.95e-17 1.95 -17 13.76 oddsRatioConfidenceIntervalLower 25.192 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079892 387427 17761 25.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 C78: Secondary malignant neoplasm of respiratory and digestive organs EFO_0009812 2.64e-12 2.64 -12 4.171 oddsRatioConfidenceIntervalLower 6.224 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079625 387835 6526 38.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MLH1 ICD10 C18: Malignant neoplasm of colon EFO_1001950 1.08e-20 1.08 -20 51.976 oddsRatioConfidenceIntervalLower 119.218 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079581 387657 3899 16.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACO1 Haematocrit percentage (30030) EFO_0004348 7.67e-26 7.67 -26 "" 0.329 0.479 0.404 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 403.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" JAK2 Platelet count (30080) EFO_0004309 3.33e-48 3.33 -48 "" 0.426 0.558 0.492 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 675.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RHOF Mean platelet thrombocyte volume (30100) EFO_0004584 3.05e-34 3.05 -34 "" 0.354 0.489 0.422 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 632.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PTPRJ Mean platelet thrombocyte volume (30100) EFO_0004584 1.68e-26 1.68 -26 "" -0.667 -0.459 -0.563 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 255.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC2A9 Urate (30880) EFO_0004531 1.03e-41 1.03 -41 "" -1.033 -0.772 -0.902 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 148.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NPR2 Comparative height size at age 10 - Shorter (1697) EFO_0004339 3.15e-13 3.15 -13 2.324 oddsRatioConfidenceIntervalLower 2.916 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 141.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PKD2 Cystatin C (30720) EFO_0004617 2.67e-17 2.67 -17 "" 0.521 0.836 0.678 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 105.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FGD1 Impedance of arm left (23110) HP_0000924 2.86e-14 2.86 -14 "" -0.372 -0.22 -0.296 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 158.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ENPP1 Phosphate (30810) EFO_0010968 7.26e-14 7.26 -14 "" -0.541 -0.316 -0.429 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 268.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IL33 Eosinophil percentage (30210) EFO_0007991 2.7699999999999996e-82 2.77 -82 "" -0.281 -0.229 -0.255 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078998 418454 418454 5008.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC45A2 Ease of skin tanning - Never tan only burn (1727) EFO_0007009 8.56e-19 8.56 -19 2.973 oddsRatioConfidenceIntervalLower 3.785 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 134.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD1 Alkaline phosphatase (30610) EFO_0004533 1.02e-25 1.02 -25 "" -0.084 -0.057 -0.07 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 17862.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ATP11C Direct bilirubin (30660) EFO_0004570 5.46e-16 5.46 -16 "" 0.268 0.439 0.353 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 241.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SF3B1 ICD10 C91: Lymphoid leukemia EFO_0004289 2.22e-18 2.22 -18 17.97 oddsRatioConfidenceIntervalLower 34.333 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 20.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OCA2 Hair colour natural before greying - Black (1747) EFO_0007822 1.95e-13 1.95 -13 0.473 oddsRatioConfidenceIntervalLower 0.577 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077610 429979 20623 84.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RASA3 Lymphocyte count (30120) EFO_0004587 2.58e-14 2.58 -14 "" -0.559 -0.33 -0.444 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 257.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SCUBE3 Standing height (50) EFO_0004339 6.22e-30 6.22 -30 "" -0.17 -0.12 -0.145 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2094.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RGS11 Mean corpuscular volume (30040) EFO_0004526 2.01e-12 2.01 -12 "" -0.704 -0.397 -0.551 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 224.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" KLF1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.36e-90 2.36 -90 "" 0.901 1.096 0.999 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 348.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GMPR Red blood cell erythrocyte distribution width (30070) EFO_0009188 4.74e-20 4.74 -20 "" -0.256 -0.166 -0.211 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1619.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TFR2 Haemoglobin concentration (30020) EFO_0004509 1.7e-20 1.7 -20 "" 0.094 0.145 0.12 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 3379.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 Cystatin C (30720) EFO_0004617 3.81e-17 3.81 -17 "" 0.127 0.204 0.165 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 1763.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" INSC Heel broadband ultrasound attenuation right (4120) EFO_0004514 4.62e-14 4.62 -14 "" 0.069 0.117 0.093 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079155 166349 166349 5126.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL6A1 Corneal hysteresis left (5264) EFO_0010066 1.09e-25 1.09 -25 "" -1.384 -0.948 -1.166 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079339 105697 105697 73.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 1.91e-31 1.91 -31 6.818 oddsRatioConfidenceIntervalLower 9.412 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 66.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CALR ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 4.54e-16 4.54 -16 36.256 oddsRatioConfidenceIntervalLower 86.224 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 13.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HMCN1 FEV1 FVC ratio Z score (20258) EFO_0004713 1.4399999999999997e-23 1.44 -23 "" 0.165 0.245 0.205 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 2171.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 5.6e-106 5.6 -106 "" 1.852 2.217 2.035 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FOXA3 SHBG (30830) EFO_0004696 2.14e-22 2.14 -22 "" 0.237 0.357 0.297 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 730.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ALB Albumin (30600) EFO_0004535 3.86e-69 3.86 -69 "" -2.182 -1.744 -1.963 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 71.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ZNF229 Apolipoprotein B (30640) EFO_0004615 3.3899999999999998e-53 3.39 -53 "" -0.229 -0.178 -0.203 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 5150.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RHAG Mean sphered cell volume (30270) EFO_0004526 1.44e-22 1.44 -22 "" -0.825 -0.549 -0.687 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 170.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 2.01e-16 2.01 -16 "" -3.074 -1.891 -2.482 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8409 8409 13.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHD2 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 2.73e-19 2.73 -19 111.857 oddsRatioConfidenceIntervalLower 313.216 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 11.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TG Non cancer illness code self reported - hypothyroidism myxoedema EFO_0004705 2.08e-12 2.08 -12 1.914 oddsRatioConfidenceIntervalLower 2.294 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077730 331754 22064 165.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IRS1 Leg fat free mass right (23113) EFO_0004995 4.75e-18 4.75 -18 "" -0.526 -0.332 -0.429 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 140.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TFR2 Mean corpuscular haemoglobin (30050) EFO_0004527 1.2e-11 1.2 -11 "" 0.227 0.411 0.319 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 351.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Arm predicted mass right (23122) EFO_0004302 9.72e-13 9.72 -13 "" 0.206 0.362 0.284 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 197.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TNFSF13 Total protein (30860) EFO_0004536 8.66e-15 8.66 -15 "" -0.669 -0.399 -0.534 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 189.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHD2 ICD10 C91: Lymphoid leukemia EFO_0004289 1.26e-20 1.26 -20 176.717 oddsRatioConfidenceIntervalLower 525.149 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 11.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" OCA2 Skin colour - Very fair (1717) EFO_0003784 1.92e-46 1.92 -46 2.929 oddsRatioConfidenceIntervalLower 3.393 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 294.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ELOVL7 Mean platelet thrombocyte volume (30100) EFO_0004584 1.33e-13 1.33 -13 "" 0.174 0.299 0.236 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 705.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Leg predicted mass left (23118) EFO_0004302 1.88e-13 1.88 -13 "" 0.197 0.34 0.268 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 257.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APC ICD10 Z87.1: Personal history of diseases of the digestive system EFO_0000405 6.57e-15 6.57 -15 7.754 oddsRatioConfidenceIntervalLower 12.979 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081368 386566 20497 29.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Forced vital capacity FVC (3062) EFO_0004312 7.74e-13 7.74 -13 "" -0.096 -0.055 -0.075 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 4124.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Hip circumference (49) EFO_0005093 1.66e-20 1.66 -20 "" 0.197 0.302 0.249 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079253 430214 430214 1224.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EGLN2 Haematocrit percentage (30030) EFO_0004348 1.66e-17 1.66 -17 "" 0.154 0.247 0.201 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1072.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RASA3 Lymphocyte count (30120) EFO_0004587 1.45e-12 1.45 -12 "" -0.396 -0.224 -0.31 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 456.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RASA2 Lymphocyte count (30120) EFO_0004587 5.35e-15 5.35 -15 "" -0.294 -0.176 -0.235 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 970.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ZFAT Standing height (50) EFO_0004339 4.94e-32 4.94 -32 "" 0.588 0.823 0.705 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 93.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" CNNM3 Standing height (50) EFO_0004339 7.39e-12 7.39 -12 "" 0.094 0.17 0.132 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 917.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Platelet distribution width (30110) EFO_0007984 3.0100000000000004e-32 3.01 -32 "" 0.209 0.293 0.251 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1779.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GMPR Mean corpuscular haemoglobin (30050) EFO_0004527 8.44e-126 8.44 -126 "" 0.32 0.378 0.349 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 3789.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NRK Sitting height (20015) EFO_0011011 4.47e-13 4.47 -13 "" 0.251 0.437 0.344 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 129.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LCORL Arm fat free mass left (23125) EFO_0004995 1.73e-13 1.73 -13 "" 0.194 0.335 0.264 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 257.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 6.91e-14 6.91 -14 10.044 oddsRatioConfidenceIntervalLower 18.369 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 20.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MEPE Speed of sound through heel right (4122) EFO_0005654 1.4500000000000002e-21 1.45 -21 "" -0.374 -0.247 -0.31 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079156 166358 166358 748.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PRSS56 3mm weak meridian right (5099) EFO_0004731 7.62e-12 7.62 -12 "" 0.32 0.577 0.449 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 188.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANK1 Reticulocyte count (30250) EFO_0007986 3.24e-15 3.24 -15 "" 0.059 0.098 0.079 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 8817.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KLF1 Red blood cell erythrocyte count (30010) EFO_0004305 4.87e-14 4.87 -14 "" 0.276 0.47 0.373 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 250.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ALB Calcium (30680) EFO_0004838 1.5499999999999998e-40 1.55 -40 "" -1.259 -0.936 -1.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 134.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLCO1B1 Direct bilirubin (30660) EFO_0004570 9.19e-33 9.19 -33 "" 0.285 0.398 0.341 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 823.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MYOC ICD10 H40: Glaucoma EFO_0000516 3.4000000000000004e-27 3.4 -27 3.969 oddsRatioConfidenceIntervalLower 5.097 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079909 384560 8122 98.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SCUBE3 Trunk predicted mass (23130) EFO_0004324 2.13e-11 2.13 -11 "" -0.215 -0.117 -0.166 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 518.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" RRBP1 Apolipoprotein B (30640) EFO_0004615 3e-18 3.0 -18 "" -1.015 -0.642 -0.829 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 92.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" PKD1 ICD10 N18: Chronic kidney disease (CKD) EFO_0003884 9.920000000000001e-43 9.92 -43 13.222 oddsRatioConfidenceIntervalLower 19.129 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080584 382843 10144 63.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 ICD10 F17: Nicotine dependence EFO_0003768 1.09e-22 1.09 -22 2.328 oddsRatioConfidenceIntervalLower 2.757 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079798 370495 32828 205.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Arm fat free mass right (23121) EFO_0004995 5.14e-20 5.14 -20 "" -0.082 -0.053 -0.068 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 5844.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APOB Apolipoprotein B (30640) EFO_0004615 2.2300000000000002e-307 2.23 -307 "" -1.768 -1.602 -1.685 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 474.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PALB2 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 3.32e-14 3.32 -14 2.547 oddsRatioConfidenceIntervalLower 3.243 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 95.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ATM ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 2.91e-13 2.91 -13 1.813 oddsRatioConfidenceIntervalLower 2.126 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 193.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R TAG Severe Obesity (RGC) EFO_0001073 1.77e-19 1.77 -19 4.905 oddsRatioConfidenceIntervalLower 6.928 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081528 150526 7973 60.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ABCG2 Urate (30880) EFO_0004531 4.66e-15 4.66 -15 "" 0.146 0.243 0.194 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 1073.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACAN Leg predicted mass left (23118) EFO_0004302 1.02e-16 1.02 -16 "" -0.754 -0.466 -0.61 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 63.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 3.11e-81 3.11 -81 "" -2.209 -1.797 -2.003 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CAD Mean reticulocyte volume (30260) EFO_0010701 8.36e-62 8.36 -62 "" 0.929 1.178 1.054 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 208.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" A1CF Gamma glutamyltransferase (30730) EFO_0004532 2.27e-12 2.27 -12 "" 0.355 0.63 0.493 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 150.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACVRL1 ICD10 I78: Diseases of capillaries EFO_0004264 1.03e-15 1.03 -15 25.576 oddsRatioConfidenceIntervalLower 56.458 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 14.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 Type of Cancer: Malignant neoplasm of breast of unspecified site (40006) EFO_0003869 4.08e-13 4.08 -13 2.894 oddsRatioConfidenceIntervalLower 3.857 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079107 41005 5931 83.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CNPY2 Standing height (50) EFO_0004339 4.87e-16 4.87 -16 "" -0.291 -0.178 -0.234 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 405.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Trunk fat free mass (23129) EFO_0004995 2.5900000000000003e-21 2.59 -21 "" 0.122 0.186 0.154 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 1201.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NPC1 Mean corpuscular volume (30040) EFO_0004526 1.88e-12 1.88 -12 "" -0.16 -0.091 -0.125 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 2745.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MFRP SphericalEquivalent r started wearing glasses contacts before 40 (RGC) EFO_0004731 8.47e-16 8.47 -16 "" 0.346 0.568 0.457 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081513 48976 48976 273.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Arm fat percentage left (23123) EFO_0007800 1.2500000000000001e-21 1.25 -21 "" 0.176 0.266 0.221 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078926 423545 423545 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ASXL1 ICD10 C92: Myeloid leukemia EFO_0002427 5.84e-21 5.84 -21 6.931 oddsRatioConfidenceIntervalLower 10.38 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 41.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GATA5 Forced vital capacity FVC (3062) EFO_0004312 1.41e-11 1.41 -11 "" -0.072 -0.04 -0.056 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 6560.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MSH2 ICD10 Z80.0: Family history of malignant neoplasm of digestive organs EFO_0009640 3.19e-23 3.19 -23 13.344 oddsRatioConfidenceIntervalLower 22.258 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081329 385471 9455 32.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CHEK2 Platelet count (30080) EFO_0004309 1.22e-22 1.22 -22 "" 0.086 0.129 0.107 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 6989.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MLH1 ICD10 Z85.0: Personal history of malignant neoplasm of digestive organs EFO_0000616 1.41e-18 1.41 -18 13.137 oddsRatioConfidenceIntervalLower 23.319 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081347 387916 6500 25.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LPL HDL cholesterol (30760) EFO_0004612 5.4e-20 5.4 -20 "" -0.803 -0.52 -0.662 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 130.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OCA2 Use of sun uv protection - Sometimes (2267) EFO_0010729 6.42e-23 6.42 -23 0.812 oddsRatioConfidenceIntervalLower 0.846 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078880 430409 150448 3314.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 Z99: Dependence on enabling machines and devices, not elsewhere classified EFO_0002571 5.390000000000001e-29 5.39 -29 16.379 oddsRatioConfidenceIntervalLower 26.745 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081445 385473 3699 35.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Arm fat free mass left (23125) EFO_0004995 1.42e-22 1.42 -22 "" 0.13 0.195 0.162 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" S1PR4 Monocyte count (30130) EFO_0005091 2.45e-12 2.45 -12 "" -0.318 -0.179 -0.249 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078992 418449 418449 636.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IL33 Asthma (RGC) MONDO_0004979 3.29e-13 3.29 -13 0.727 oddsRatioConfidenceIntervalLower 0.792 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081461 375465 61807 571.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TNFRSF10B Gamma glutamyltransferase (30730) EFO_0004532 4.44e-12 4.44 -12 "" 0.125 0.224 0.174 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1165.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZNF229 Cholesterol (30690) EFO_0004574 9.47e-17 9.47 -17 "" -0.133 -0.082 -0.107 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 5203.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Whole body water mass (23102) EFO_0009805 3.06e-14 3.06 -14 "" 0.227 0.384 0.306 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 197.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MLH1 ICD10 Z08: Encounter for follow-up examination after completed treatment for malignant neoplasm EFO_0004542 2.08e-22 2.08 -22 7.764 oddsRatioConfidenceIntervalLower 11.729 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081200 387917 6079 42.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Mean corpuscular volume (30040) EFO_0004526 1.92e-18 1.92 -18 "" -2.985 -1.893 -2.439 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 10.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" GPLD1 Alkaline phosphatase (30610) EFO_0004533 4.68e-18 4.68 -18 "" -0.976 -0.616 -0.796 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8544 8544 117.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" KLF1 Mean corpuscular volume (30040) EFO_0004526 3.02e-85 3.02 -85 "" -1.204 -0.984 -1.094 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 250.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MYO6 hearing loss (RGC) EFO_0004238 6.75e-13 6.75 -13 3.112 oddsRatioConfidenceIntervalLower 4.242 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 106.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" THBS4 3mm weak meridian right (5099) EFO_0004731 9.6e-22 9.6 -22 "" -0.349 -0.231 -0.29 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 887.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" WNT1 Speed of sound through heel (3146) EFO_0005654 1.14e-14 1.14 -14 "" -0.574 -0.341 -0.458 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079050 246319 246319 227.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Arm predicted mass right (23122) EFO_0004302 3.75e-20 3.75 -20 "" -0.082 -0.053 -0.068 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078925 423566 423566 5844.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GFI1B Platelet count (30080) EFO_0004309 4e-18 4.0 -18 "" -0.385 -0.243 -0.314 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 586.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PAPPA2 Whole body water mass (23102) EFO_0009805 9.33e-12 9.33 -12 "" -0.295 -0.163 -0.229 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 285.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LDLR ICD10 I25.9: Chronic ischemic heart disease, unspecified EFO_0003777 5.8e-13 5.8 -13 2.208 oddsRatioConfidenceIntervalLower 2.739 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079981 386241 17106 119.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean sphered cell volume (30270) EFO_0004526 3.15e-127 3.15 -127 "" -2.408 -2.044 -2.226 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 96.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MYD88 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 9.9e-12 9.9 -12 10.343 oddsRatioConfidenceIntervalLower 20.265 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 16.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Leg fat free mass right (23113) EFO_0004995 2.53e-17 2.53 -17 "" -0.093 -0.058 -0.075 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 4404.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" B4GALNT3 Seated height (51) EFO_0011011 4.9e-12 4.9 -12 "" 0.057 0.102 0.08 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 3904.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CALR Immature reticulocyte fraction (30280) EFO_0010700 5.29e-13 5.29 -13 "" 0.604 1.055 0.83 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 69.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GCK OralDiabetes Med (RGC) EFO_0007010 1.98e-14 1.98 -14 4.366 oddsRatioConfidenceIntervalLower 6.369 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081503 320758 13132 46.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R Standing height (50) EFO_0004339 1.38e-18 1.38 -18 "" -0.735 -0.467 -0.601 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 72.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SF3B1 Haemoglobin concentration (30020) EFO_0004509 1.64e-11 1.64 -11 "" -0.328 -0.18 -0.254 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 394.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FANCA Hair colour natural before greying - Red (1747) EFO_0007822 8.57e-36 8.57 -36 0.395 oddsRatioConfidenceIntervalLower 0.457 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 134.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Whole body fat free mass (23101) EFO_0004995 7.59e-13 7.59 -13 "" 0.225 0.395 0.31 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 170.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C78: Secondary malignant neoplasm of respiratory and digestive organs EFO_0009812 4.1699999999999995e-30 4.17 -30 4.834 oddsRatioConfidenceIntervalLower 6.337 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079625 387835 6526 87.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ITGA2B Platelet count (30080) EFO_0004309 3.51e-18 3.51 -18 "" -0.469 -0.296 -0.382 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 393.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYR Skin colour - Very fair (1717) EFO_0003784 1.58e-16 1.58 -16 1.979 oddsRatioConfidenceIntervalLower 2.328 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 212.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CUBN Microalbumin in urine (30500) EFO_0010967 3.98e-15 3.98 -15 "" 0.176 0.293 0.234 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 1083.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EXOC3L4 Gamma glutamyltransferase (30730) EFO_0004532 8.91e-14 8.91 -14 "" -0.314 -0.183 -0.249 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 668.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HK1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.14e-14 1.14 -14 "" -0.853 -0.507 -0.68 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 101.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IFT140 ICD10 Q61: Cystic kidney disease EFO_0008615 5.13e-14 5.13 -14 12.996 oddsRatioConfidenceIntervalLower 25.339 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080749 387682 578 17.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GP1BA Platelet distribution width (30110) EFO_0007984 2.32e-44 2.32 -44 "" 0.359 0.476 0.418 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 899.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KLF1 Mean corpuscular haemoglobin (30050) EFO_0004527 2.62e-86 2.62 -86 "" -1.027 -0.841 -0.934 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 348.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" AHSP Mean corpuscular haemoglobin (30050) EFO_0004527 1.08e-12 1.08 -12 "" -0.382 -0.217 -0.299 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 442.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" APC ICD10 D13.1: Benign neoplasm of stomach MONDO_0021449 4.6200000000000004e-27 4.62 -27 91.43 oddsRatioConfidenceIntervalLower 207.911 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079663 387930 1028 17.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZNF229 Cholesterol (30690) EFO_0004574 9.47e-17 9.47 -17 "" -0.133 -0.082 -0.107 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 5203.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHD2 ICD10 C91: Lymphoid leukemia EFO_0004289 1.08e-11 1.08 -11 10.317 oddsRatioConfidenceIntervalLower 20.224 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 16.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" STAB1 IGF 1 (30770) EFO_0004627 1.71e-11 1.71 -11 "" -0.096 -0.053 -0.075 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 6671.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 Illnesses of mother - Breast cancer (20110) EFO_0009640 7.26e-21 7.26 -21 2.343 oddsRatioConfidenceIntervalLower 2.8 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078276 423686 33019 178.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PAPPA Standing height (50) EFO_0004339 2.97e-12 2.97 -12 "" -0.188 -0.106 -0.147 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 759.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LCORL Arm fat free mass left (23125) EFO_0004995 9.28e-12 9.28 -12 "" 0.191 0.346 0.269 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 213.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANGPTL3 HDL cholesterol (30760) EFO_0004612 9.96e-22 9.96 -22 "" -0.335 -0.221 -0.278 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 801.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANGPTL8 HDL cholesterol (30760) EFO_0004612 2.4600000000000003e-21 2.46 -21 "" 0.268 0.408 0.338 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 528.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Cholesterol (30690) EFO_0004574 1.68e-29 1.68 -29 "" 0.444 0.631 0.538 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 382.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ACAN Sitting height (20015) EFO_0011011 8.8e-48 8.8 -48 "" -1.365 -1.041 -1.203 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 64.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGF1R Basal metabolic rate (23105) EFO_0007777 2.49e-13 2.49 -13 "" -0.653 -0.377 -0.515 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 71.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PRSS56 3mm weak meridian right (5099) EFO_0004731 7.62e-12 7.62 -12 "" 0.32 0.577 0.449 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 188.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NPR3 Sitting height (20015) EFO_0011011 1.55e-12 1.55 -12 "" 0.048 0.084 0.066 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 5066.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GHRH Sitting height (20015) EFO_0011011 2.58e-14 2.58 -14 "" -0.524 -0.31 -0.417 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 146.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SEC23B Red blood cell erythrocyte distribution width (30070) EFO_0009188 2.86e-23 2.86 -23 "" 0.248 0.37 0.309 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 880.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Reticulocyte count (30250) EFO_0007986 9.63e-12 9.63 -12 "" -0.239 -0.132 -0.186 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1165.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPTB Mean sphered cell volume (30270) EFO_0004526 1.57e-19 1.57 -19 "" -0.878 -0.565 -0.722 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 129.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" XPO1 Type of Cancer: Chronic lymphocytic leukemia of B-cell type (40006) EFO_0000095 3.98e-13 3.98 -13 99.731 oddsRatioConfidenceIntervalLower 345.727 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079124 74230 571 8.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 Illnesses of siblings - Breast cancer (20111) EFO_0009640 7.78e-23 7.78 -23 2.123 oddsRatioConfidenceIntervalLower 2.466 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 233.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FCGRT Albumin (30600) EFO_0004535 2.67e-35 2.67 -35 "" -2.198 -1.598 -1.898 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 38.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TFR2 Mean corpuscular haemoglobin (30050) EFO_0004527 3.3e-40 3.3 -40 "" 0.172 0.231 0.202 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 3379.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TNFSF13 Total protein (30860) EFO_0004536 1.42e-13 1.42 -13 "" -0.815 -0.473 -0.644 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 118.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" UGT1A8 Total bilirubin (30840) EFO_0004570 5.25e-49 5.25 -49 "" 0.335 0.438 0.386 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1245.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHTF18 Mean reticulocyte volume (30260) EFO_0010701 2.78e-13 2.78 -13 "" 0.159 0.275 0.217 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 949.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYMP Mean reticulocyte volume (30260) EFO_0010701 3.55e-18 3.55 -18 "" -0.24 -0.151 -0.196 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1659.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MLH1 ICD10 C18: Malignant neoplasm of colon EFO_1001950 2.54e-17 2.54 -17 8.286 oddsRatioConfidenceIntervalLower 13.52 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079581 387657 3899 30.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PALB2 DD Cancer - Yes (2453) EFO_0000311 5.43e-12 5.43 -12 2.083 oddsRatioConfidenceIntervalLower 2.566 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 128.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC39A5 Alkaline phosphatase (30610) EFO_0004533 6.96e-19 6.96 -19 "" 0.133 0.209 0.171 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 2095.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 1.8800000000000002e-59 1.88 -59 5.332 oddsRatioConfidenceIntervalLower 6.524 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 175.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PCSK9 LDL direct (30780) EFO_0004611 1.16e-163 1.16 -163 "" -1.072 -0.928 -1.0 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 647.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" G6PD Glycated haemoglobin HbA1c (30750) EFO_0004541 4.85e-17 4.85 -17 "" -0.74 -0.46 -0.6 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9729 9729 98.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" EXOC3L4 Mean platelet thrombocyte volume (30100) EFO_0004584 7.549999999999999e-42 7.55 -42 "" -0.228 -0.171 -0.2 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 3983.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS17 Sitting height (20015) EFO_0011011 1.33e-16 1.33 -16 "" -0.106 -0.065 -0.086 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 4115.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PIEZO1 Haemoglobin concentration (30020) EFO_0004509 8.22e-13 8.22 -13 "" -0.23 -0.131 -0.181 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 879.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CLDN10 Cystatin C (30720) EFO_0004617 6.5e-25 6.5 -25 "" 0.681 1.001 0.841 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079027 412047 412047 101.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SHOX Standing height (50) EFO_0004339 3.24e-23 3.24 -23 "" -1.31 -0.878 -1.094 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 27.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SIX6 SphericalEquivalent r started wearing glasses contacts before 40 (RGC) EFO_0004731 1.21e-16 1.21 -16 "" -0.355 -0.219 -0.287 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081513 48976 48976 723.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A10 Total bilirubin (30840) EFO_0004570 3.06e-90 3.06 -90 "" 0.383 0.465 0.424 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1935.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 ICD10 I12: Hypertensive chronic kidney disease MONDO_0024633 1.38e-25 1.38 -25 24.864 oddsRatioConfidenceIntervalLower 45.412 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079964 387912 1660 25.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MIP ICD10 H26: Other cataract MONDO_0005129 4.6100000000000004e-33 4.61 -33 8.018 oddsRatioConfidenceIntervalLower 11.272 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079893 384442 20291 70.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Arm fat free mass right (23121) EFO_0004995 2.26e-12 2.26 -12 "" 0.194 0.345 0.27 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 213.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TYR Skin colour - Very fair (1717) EFO_0003784 1.3e-19 1.3 -19 2.68 oddsRatioConfidenceIntervalLower 3.316 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 134.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN Arm fat free mass left (23125) EFO_0004995 1.07e-16 1.07 -16 "" -0.078 -0.048 -0.063 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 5843.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RTEL1 Mean corpuscular volume (30040) EFO_0004526 9.61e-12 9.61 -12 "" 0.346 0.626 0.486 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 152.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ACVRL1 ICD10 R04.0: Epistaxis EFO_0003895 1.12e-11 1.12 -11 36.284 oddsRatioConfidenceIntervalLower 102.305 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080761 385081 3559 9.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MOB3C Mean platelet thrombocyte volume (30100) EFO_0004584 1.43e-14 1.43 -14 "" -0.347 -0.206 -0.276 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 567.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CALR Haemoglobin concentration (30020) EFO_0004509 2.6e-16 2.6 -16 "" -0.901 -0.553 -0.727 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 71.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TNFRSF13B Platelet crit (30090) EFO_0007985 6.61e-16 6.61 -16 "" -0.239 -0.146 -0.193 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 1343.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 1.05e-18 1.05 -18 2.609 oddsRatioConfidenceIntervalLower 3.228 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 133.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" OCA2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 6.55e-26 6.55 -26 0.196 oddsRatioConfidenceIntervalLower 0.266 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 36.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CTSD Aspartate aminotransferase (30650) EFO_0004736 1.42e-11 1.42 -11 "" 0.182 0.33 0.256 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 577.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IQGAP2 Reticulocyte count (30250) EFO_0007986 7.09e-20 7.09 -20 "" 0.069 0.107 0.088 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 9500.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FLG Non cancer illness code self reported - eczema dermatitis EFO_0005319 8.47e-18 8.47 -18 1.703 oddsRatioConfidenceIntervalLower 1.923 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077853 331754 12790 331.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS3 Impedance of arm left (23110) HP_0000924 1.98e-13 1.98 -13 "" -0.161 -0.093 -0.127 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 1455.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PLIN1 HDL cholesterol (30760) EFO_0004612 2.07e-15 2.07 -15 "" 0.146 0.242 0.194 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1139.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MC4R Impedance of whole body (23106) HP_0000924 4.31e-13 4.31 -13 "" -0.461 -0.265 -0.363 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 197.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TMPRSS6 Haematocrit percentage (30030) EFO_0004348 1.59e-19 1.59 -19 "" -0.199 -0.128 -0.164 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1822.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPTA1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.72e-47 1.72 -47 "" -0.755 -0.575 -0.665 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 364.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Trunk fat free mass (23129) EFO_0004995 2.5900000000000003e-21 2.59 -21 "" 0.122 0.186 0.154 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 1201.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASXL1 ICD10 D70: Neutropenia MONDO_0001475 3.69e-12 3.69 -12 3.439 oddsRatioConfidenceIntervalLower 4.872 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079716 387075 4407 47.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Sitting height (20015) EFO_0011011 2.98e-20 2.98 -20 "" 0.499 0.768 0.633 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 93.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Mean corpuscular volume (30040) EFO_0004526 5.16e-22 5.16 -22 "" -2.561 -1.696 -2.128 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 21.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC34A3 Phosphate (30810) EFO_0010968 1.31e-25 1.31 -25 "" -0.399 -0.273 -0.336 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 850.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KDM5B Mean time to correctly identify matches (20023) EFO_0008354 1.75e-15 1.75 -15 "" 0.346 0.572 0.459 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078252 427920 427920 253.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TYRP1 Ease of skin tanning - Get very tanned (1727) EFO_0007009 3.79e-13 3.79 -13 0.297 oddsRatioConfidenceIntervalLower 0.412 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077602 422570 89584 29.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MSH6 Type of Cancer: Malignant neoplasm of corpus uteri (40006) EFO_0007532 7.34e-17 7.34 -17 4.186 oddsRatioConfidenceIntervalLower 5.86 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079110 41005 1612 58.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN HF (RGC) EFO_0003144 1.95e-21 1.95 -21 2.085 oddsRatioConfidenceIntervalLower 2.425 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081485 387050 8159 226.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A4 Direct bilirubin (30660) EFO_0004570 6.69e-26 6.69 -26 "" 0.214 0.312 0.263 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1338.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SF3B1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.23e-19 6.23 -19 "" 0.322 0.505 0.413 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 394.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" GMPR Mean corpuscular haemoglobin concentration (30060) EFO_0004528 7.59e-16 7.59 -16 "" 0.146 0.239 0.193 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078985 419186 419186 1619.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Leg fat free mass right (23113) EFO_0004995 3.67e-12 3.67 -12 "" 0.084 0.151 0.117 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 1200.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 1.04e-13 1.04 -13 8.024 oddsRatioConfidenceIntervalLower 13.893 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 28.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" APC ICD10 D13.1: Benign neoplasm of stomach MONDO_0021449 4.6200000000000004e-27 4.62 -27 91.43 oddsRatioConfidenceIntervalLower 207.911 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079663 387930 1028 17.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean corpuscular volume (30040) EFO_0004526 8.8e-232 8.8 -232 "" -3.069 -2.72 -2.894 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 98.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ADAMTS17 Comparative height size at age 10 - Shorter (1697) EFO_0004339 1.37e-17 1.37 -17 2.619 oddsRatioConfidenceIntervalLower 3.266 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 156.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I47: Paroxysmal tachycardia EFO_0009493 1.19e-13 1.19 -13 2.351 oddsRatioConfidenceIntervalLower 2.946 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080013 387060 4268 101.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SHBG SHBG (30830) EFO_0004696 2.2300000000000002e-307 2.23 -307 "" -1.327 -1.284 -1.305 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 6132.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SH2B3 Lymphocyte count (30120) EFO_0004587 2.37e-14 2.37 -14 "" 0.118 0.199 0.158 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 2045.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 ICD10 D70: Neutropenia MONDO_0001475 7.72e-16 7.72 -16 3.46 oddsRatioConfidenceIntervalLower 4.679 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079716 387075 4407 63.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GCK ICD10 E13.6: Other specified diabetes mellitus with other specified complications EFO_0000400 1.16e-11 1.16 -11 5.178 oddsRatioConfidenceIntervalLower 8.326 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079745 386731 8624 29.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" THBS3 Impedance of arm right (23109) HP_0000924 8.53e-13 8.53 -13 "" -0.127 -0.072 -0.1 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 2239.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FGD1 Impedance of arm right (23109) HP_0000924 7.05e-14 7.05 -14 "" -0.599 -0.35 -0.475 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 61.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" MC4R Leg fat mass left (23116) EFO_0005409 1.3500000000000002e-26 1.35 -26 "" 0.21 0.304 0.257 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078919 423640 423640 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RNF10 Reticulocyte percentage (30240) EFO_0010700 1.12e-12 1.12 -12 "" 0.626 1.102 0.864 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 60.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TFRC Mean sphered cell volume (30270) EFO_0004526 1.11e-15 1.11 -15 "" -0.989 -0.6 -0.794 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 84.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR CAD (RGC) EFO_0001645 6.66e-21 6.66 -21 2.156 oddsRatioConfidenceIntervalLower 2.531 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081466 283203 28605 238.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" JAK2 Platelet count (30080) EFO_0004309 4.26e-166 4.26 -166 "" 0.479 0.553 0.516 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 2164.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HSPA9 Mean corpuscular volume (30040) EFO_0004526 1.11e-20 1.11 -20 "" -0.652 -0.425 -0.539 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 232.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 C50.9: Malignant neoplasm of breast of unspecified site EFO_0003869 2.1200000000000002e-29 2.12 -29 6.775 oddsRatioConfidenceIntervalLower 9.454 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079605 211352 8909 67.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TSHR ICD10 E03.9: Hypothyroidism, unspecified EFO_0004705 2.5299999999999997e-23 2.53 -23 2.428 oddsRatioConfidenceIntervalLower 2.891 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079721 385358 19694 187.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TNFRSF13B White blood cell leukocyte count (30000) EFO_0004308 2.17e-16 2.17 -16 "" -0.114 -0.07 -0.092 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 7149.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HSPA9 Mean corpuscular haemoglobin (30050) EFO_0004527 1.3399999999999999e-24 1.34 -24 "" -0.705 -0.478 -0.592 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 232.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TUBB1 Mean platelet thrombocyte volume (30100) EFO_0004584 1.57e-21 1.57 -21 "" 0.676 1.027 0.852 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 89.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SUPT5H Red blood cell erythrocyte distribution width (30070) EFO_0009188 7.18e-15 7.18 -15 "" 0.999 1.671 1.335 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 29.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADCK3 Mean reticulocyte volume (30260) EFO_0010701 8.95e-16 8.95 -16 "" -0.214 -0.13 -0.172 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1873.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SF3B1 Haematocrit percentage (30030) EFO_0004348 7.16e-13 7.16 -13 "" -0.356 -0.203 -0.28 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 394.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KLHDC7B hearing loss (RGC) EFO_0004238 8.729999999999999e-28 8.73 -28 2.156 oddsRatioConfidenceIntervalLower 2.474 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081539 295030 98675 451.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" E2F4 Mean corpuscular haemoglobin (30050) EFO_0004527 1.9e-21 1.9 -21 "" 1.361 2.068 1.714 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 24.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TYR Hair colour natural before greying - Blonde (1747) EFO_0007822 6.69e-17 6.69 -17 2.343 oddsRatioConfidenceIntervalLower 2.861 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 158.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R Leg predicted mass left (23118) EFO_0004302 3.89e-19 3.89 -19 "" -0.202 -0.129 -0.166 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 995.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" THBS3 Impedance of arm right (23109) HP_0000924 2.04e-11 2.04 -11 "" -0.069 -0.038 -0.054 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 6894.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOA1 Apolipoprotein A (30630) EFO_0004732 7.72e-14 7.72 -14 "" -2.411 -1.409 -1.91 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 11.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" BRCA1 Illnesses of siblings - Breast cancer (20111) EFO_0009640 6.1e-14 6.1 -14 2.284 oddsRatioConfidenceIntervalLower 2.833 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 115.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TET2 White blood cell leukocyte count (30000) EFO_0004308 1.53e-14 1.53 -14 "" -0.232 -0.138 -0.185 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078978 419188 419188 1532.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GIGYF1 LDL direct (30780) EFO_0004611 1.25e-11 1.25 -11 "" -0.765 -0.422 -0.594 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079033 411351 411351 112.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GCK Metformin Med (RGC) EFO_0007010 5.16e-13 5.16 -13 4.223 oddsRatioConfidenceIntervalLower 6.243 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081499 320758 12065 42.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANTXR1 Impedance of arm right (23109) HP_0000924 7.76e-19 7.76 -19 "" -0.188 -0.12 -0.154 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078912 423992 423992 1439.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MEPE Heel bone mineral density BMD T score automated right (4125) EFO_0009270 9.63e-22 9.63 -22 "" -0.371 -0.245 -0.308 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079159 166358 166358 748.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" FCGRT Total protein (30860) EFO_0004536 1.6e-32 1.6 -32 "" -1.523 -1.091 -1.307 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 74.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HBB Mean corpuscular volume (30040) EFO_0004526 6.05e-108 6.05 -108 "" -2.412 -2.018 -2.215 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9953 9953 103.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - ezetimibe EFO_0007010 1.4399999999999997e-23 1.44 -23 15.813 oddsRatioConfidenceIntervalLower 27.157 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078226 320758 2675 29.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Immature reticulocyte fraction (30280) EFO_0010700 3.87e-16 3.87 -16 "" 0.601 0.982 0.792 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079004 412333 412333 96.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CNPY2 Standing height (50) EFO_0004339 5.41e-14 5.41 -14 "" -0.427 -0.251 -0.339 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 166.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TFRC Mean corpuscular volume (30040) EFO_0004526 9.31e-12 9.31 -12 "" -0.29 -0.16 -0.225 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 717.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MEN1 ICD10 E21.0: Primary hyperparathyroidism EFO_0008519 1.1e-14 1.1 -14 434.988 oddsRatioConfidenceIntervalLower 2031.21 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079751 387930 643 6.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Basal metabolic rate (23105) EFO_0007777 2.64e-18 2.64 -18 "" -0.096 -0.061 -0.079 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 4404.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF1R Leg fat free mass right (23113) EFO_0004995 3.05e-14 3.05 -14 "" -0.145 -0.086 -0.115 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 1485.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCAT HDL cholesterol (30760) EFO_0004612 1.1500000000000001e-29 1.15 -29 "" -1.474 -1.039 -1.256 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 57.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 Red blood cell erythrocyte count (30010) EFO_0004305 2.12e-12 2.12 -12 "" -1.378 -0.777 -1.077 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 26.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" HBB High light scatter reticulocyte count (30300) EFO_0007986 2.49e-15 2.49 -15 "" 0.575 0.954 0.765 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9690 9690 99.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ATG4C SHBG (30830) EFO_0004696 1.26e-14 1.26 -14 "" 0.059 0.099 0.079 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079040 374810 374810 6555.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UBR2 Leg fat mass right (23112) EFO_0005409 7.99e-12 7.99 -12 "" 0.307 0.553 0.43 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078915 423659 423659 141.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ZFAT Leg fat free mass left (23117) EFO_0004995 2.92e-13 2.92 -13 "" 0.327 0.568 0.447 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 92.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z85: Personal history of malignant neoplasm EFO_0000616 3.73e-29 3.73 -29 1.954 oddsRatioConfidenceIntervalLower 2.197 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081354 387388 30873 397.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLCO1B1 Direct bilirubin (30660) EFO_0004570 5.629999999999999e-45 5.63 -45 "" 0.231 0.306 0.269 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1859.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FCGRT Total protein (30860) EFO_0004536 1.6e-32 1.6 -32 "" -1.523 -1.091 -1.307 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 74.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANO5 Aspartate aminotransferase (30650) EFO_0004736 8.39e-27 8.39 -27 "" 0.117 0.17 0.144 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079020 410630 410630 4629.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" COL4A4 Microalbumin in urine (30500) EFO_0010967 7.46e-57 7.46 -57 "" 0.636 0.815 0.726 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079007 133436 133436 463.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Weight (23098) EFO_0004338 3.34e-13 3.34 -13 "" 0.095 0.166 0.131 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 2067.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TFRC Mean corpuscular volume (30040) EFO_0004526 5.11e-50 5.11 -50 "" -1.594 -1.223 -1.408 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 87.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SPSB3 Seated height (51) EFO_0011011 1.09e-15 1.09 -15 "" -0.088 -0.053 -0.071 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079330 430080 430080 6612.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NPC1L1 Cholesterol (30690) EFO_0004574 2.09e-18 2.09 -18 "" -0.16 -0.101 -0.131 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 3794.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TYR Skin colour - Very fair (1717) EFO_0003784 3.4399999999999995e-48 3.44 -48 2.371 oddsRatioConfidenceIntervalLower 2.663 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 447.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" HMCN1 FEV1 FVC ratio Z score (20258) EFO_0004713 3.44e-36 3.44 -36 "" 0.131 0.18 0.155 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078390 343302 343302 6022.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ALB Albumin (30600) EFO_0004535 4.0399999999999996e-55 4.04 -55 "" -0.494 -0.384 -0.439 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 1128.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PFKM Glycated haemoglobin HbA1c (30750) EFO_0004541 9.66e-21 9.66 -21 "" -0.556 -0.363 -0.459 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 317.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BORA Mean corpuscular haemoglobin (30050) EFO_0004527 7.61e-15 7.61 -15 "" -0.127 -0.076 -0.101 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 4560.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOC3 Apolipoprotein B (30640) EFO_0004615 1.6700000000000001e-22 1.67 -22 "" -0.231 -0.154 -0.193 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079018 410113 410113 2152.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTB Reticulocyte count (30250) EFO_0007986 1.19e-15 1.19 -15 "" 0.635 1.047 0.841 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 78.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ACAN Basal metabolic rate (23105) EFO_0007777 5.17e-17 5.17 -17 "" -0.572 -0.355 -0.463 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078908 423685 423685 115.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80: Family history of primary malignant neoplasm EFO_0009640 1.06e-15 1.06 -15 3.808 oddsRatioConfidenceIntervalLower 5.28 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081334 378063 13831 57.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HMCN1 Forced vital capacity FVC (3062) EFO_0004312 1.12e-11 1.12 -11 "" 0.023 0.042 0.032 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079015 395451 395451 20670.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CRP C reactive protein (30710) EFO_0004458 3.36e-34 3.36 -34 "" -0.764 -0.552 -0.658 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079026 411229 411229 306.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MLH1 Type of Cancer: Malignant neoplasm of colon (40006) EFO_1001950 2.53e-12 2.53 -12 44.75 oddsRatioConfidenceIntervalLower 129.689 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079082 74230 3309 11.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" IRS1 Trunk fat free mass (23129) EFO_0004995 1.9e-25 1.9 -25 "" -0.593 -0.405 -0.499 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 140.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TSHR Non cancer illness code self reported - hypothyroidism myxoedema/ICD10 E03 EFO_1001055 2.52e-13 2.52 -13 3.018 oddsRatioConfidenceIntervalLower 4.057 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077731 329052 18362 71.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CD36 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.47e-29 1.47 -29 "" 0.145 0.206 0.175 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 3612.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EGLN1 Haemoglobin concentration (30020) EFO_0004509 2.52e-15 2.52 -15 "" 0.484 0.802 0.643 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 85.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Reticulocyte count (30250) EFO_0007986 7.53e-13 7.53 -13 "" 0.498 0.872 0.685 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9692 9692 99.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" STC2 Leg predicted mass right (23114) EFO_0004302 1.7e-18 1.7 -18 "" 0.08 0.126 0.103 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 2488.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCB4 Non cancer illness code self reported - cholelithiasis gall stones EFO_0004210 1.67e-11 1.67 -11 2.61 oddsRatioConfidenceIntervalLower 3.45 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077704 331754 7669 70.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LRP2 Urate (30880) EFO_0004531 2.44e-14 2.44 -14 "" 0.037 0.063 0.05 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079045 411604 411604 14541.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Sitting height (20015) EFO_0011011 5.179999999999999e-34 5.18 -34 "" 0.284 0.393 0.338 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 568.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" HBB Mean reticulocyte volume (30260) EFO_0010701 9.289999999999999e-42 9.29 -42 "" -1.599 -1.194 -1.396 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9692 9692 99.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BTG2 Mean reticulocyte volume (30260) EFO_0010701 1.54e-11 1.54 -11 "" 0.226 0.41 0.318 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 383.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANGPTL3 Triglycerides (30870) EFO_0004530 4.4e-31 4.4 -31 "" -0.133 -0.095 -0.114 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 8406.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACO1 Haematocrit percentage (30030) EFO_0004348 8.2e-20 8.2 -20 "" 0.077 0.119 0.098 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 5181.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Treatment or Medication Code - warfarin EFO_0007010 6.96e-14 6.96 -14 2.802 oddsRatioConfidenceIntervalLower 3.67 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078123 320758 4740 76.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MIP Non cancer illness code self reported - cataract MONDO_0005129 7.01e-13 7.01 -13 5.992 oddsRatioConfidenceIntervalLower 9.769 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077756 331754 8629 29.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TET2 Monocyte percentage (30190) EFO_0007989 9.81e-31 9.81 -31 "" 0.204 0.287 0.246 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 1791.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASXL1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 9.96e-14 9.96 -14 "" 0.311 0.534 0.423 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 263.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" PTPRH Platelet crit (30090) EFO_0007985 2.6899999999999997e-41 2.69 -41 "" -0.218 -0.163 -0.19 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078988 419060 419060 3851.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z42: Encounter for plastic and reconstructive surgery following medical procedure or healed injury EFO_0004542 5.49e-12 5.49 -12 4.106 oddsRatioConfidenceIntervalLower 6.135 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081258 387930 2861 37.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC4R Leg predicted mass right (23114) EFO_0004302 2.83e-28 2.83 -28 "" 0.172 0.246 0.209 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 937.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC22A12 Urate (30880) EFO_0004531 1.36e-12 1.36 -12 "" -1.281 -0.726 -1.003 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9833 9833 35.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" EPB41 Reticulocyte count (30250) EFO_0007986 4.3e-20 4.3 -20 "" 0.504 0.778 0.641 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 179.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MYOC Non cancer illness code self reported - glaucoma EFO_0000516 2.47e-15 2.47 -15 3.02 oddsRatioConfidenceIntervalLower 3.971 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077754 331754 5059 75.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 N18: Chronic kidney disease (CKD) EFO_0003884 4.32e-25 4.32 -25 3.279 oddsRatioConfidenceIntervalLower 4.106 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080584 382843 10144 116.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LCORL Whole body fat free mass (23101) EFO_0004995 1e-15 10.0 -16 "" 0.273 0.45 0.361 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 157.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" STC2 Trunk predicted mass (23130) EFO_0004324 1.33e-25 1.33 -25 "" 0.096 0.141 0.118 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 2488.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SH2B3 Haematocrit percentage (30030) EFO_0004348 8.46e-26 8.46 -26 "" 0.109 0.158 0.134 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 3695.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IL17RA Monocyte percentage (30190) EFO_0007989 1.16e-11 1.16 -11 "" -0.61 -0.337 -0.473 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078996 418454 418454 166.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ASXL1 Platelet distribution width (30110) EFO_0007984 4.9100000000000005e-64 4.91 -64 "" 0.397 0.502 0.45 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 1167.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KLHDC7B Hearing difficulty problems - Yes (2247) EFO_0007616 4.21e-28 4.21 -28 1.962 oddsRatioConfidenceIntervalLower 2.212 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 511.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCB4 ICD10 K80: Cholelithiasis EFO_0004799 1.05e-16 1.05 -16 2.1 oddsRatioConfidenceIntervalLower 2.502 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080297 385441 17665 207.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" JAK2 Lymphocyte percentage (30180) EFO_0007993 7.42e-16 7.42 -16 "" -0.2 -0.122 -0.161 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078995 418454 418454 2163.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGF1R Leg predicted mass right (23114) EFO_0004302 3.52e-14 3.52 -14 "" -0.144 -0.085 -0.114 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 1485.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC22A2 Creatinine (30700) EFO_0004518 1.83e-84 1.83 -84 "" 0.238 0.291 0.264 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 3118.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Arm predicted mass left (23126) EFO_0004302 3.37e-13 3.37 -13 "" 0.243 0.422 0.333 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 157.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HNF1A TAG ProbableT2D (RGC) MONDO_0005148 1.15e-11 1.15 -11 7.193 oddsRatioConfidenceIntervalLower 12.716 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081526 426342 17719 23.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPSB3 Whole body fat free mass (23101) EFO_0004995 1.24e-16 1.24 -16 "" -0.072 -0.044 -0.058 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 6513.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ALPL Alkaline phosphatase (30610) EFO_0004533 2.2300000000000002e-307 2.23 -307 "" -1.703 -1.624 -1.663 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 1910.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z80.4: Family history of malignant neoplasm of genital organs EFO_0009640 5.88e-36 5.88 -36 18.39 oddsRatioConfidenceIntervalLower 29.01 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081332 387284 1416 41.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" WNT1 Heel broadband ultrasound attenuation right (4120) EFO_0004514 5.51e-12 5.51 -12 "" -0.596 -0.332 -0.464 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079155 166349 166349 167.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" KLHDC7B Hearing difficulty problems background noise - Yes (2257) EFO_0007616 2.97e-18 2.97 -18 1.658 oddsRatioConfidenceIntervalLower 1.857 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078878 422872 167296 644.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR ICD10 E78.0: Pure hypercholesterolemia HP_0003124 4.85e-12 4.85 -12 2.869 oddsRatioConfidenceIntervalLower 3.868 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079766 378271 45730 77.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GP1BB Mean platelet thrombocyte volume (30100) EFO_0004584 1.67e-58 1.67 -58 "" 1.648 2.104 1.876 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 52.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CLDN10 Urea (30670) EFO_0009795 1.82e-11 1.82 -11 "" 0.436 0.795 0.616 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 101.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Comparative height size at age 10 - Shorter (1697) EFO_0004339 4.48e-14 4.48 -14 4.568 oddsRatioConfidenceIntervalLower 6.777 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077591 423975 87597 59.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IL33 Non cancer illness code self reported - asthma/ICD10 J45 MONDO_0004979 1.04e-11 1.04 -11 0.706 oddsRatioConfidenceIntervalLower 0.78 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077672 329051 45415 398.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOC3 HDL cholesterol (30760) EFO_0004612 2.47e-52 2.47 -52 "" 0.67 0.868 0.769 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 266.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LRP5 Heel bone mineral density BMD (3148) EFO_0009270 6.71e-14 6.71 -14 "" -0.763 -0.447 -0.605 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079052 246206 246206 120.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IRS1 Arm fat free mass right (23121) EFO_0004995 1.27e-22 1.27 -22 "" -0.559 -0.372 -0.466 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 140.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CALR Platelet distribution width (30110) EFO_0007984 1.68e-11 1.68 -11 "" 0.507 0.924 0.716 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 71.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin (30050) EFO_0004527 6.53e-227 6.53 -227 "" -3.038 -2.689 -2.863 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 98.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A9 Total bilirubin (30840) EFO_0004570 1.67e-15 1.67 -15 "" 0.32 0.529 0.425 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9811 9811 341.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC4A1 Glycated haemoglobin HbA1c (30750) EFO_0004541 1.17e-18 1.17 -18 "" -0.98 -0.624 -0.802 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 93.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" IQGAP2 Total protein (30860) EFO_0004536 3.37e-12 3.37 -12 "" -0.235 -0.132 -0.183 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 1290.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Mean corpuscular haemoglobin concentration (30060) EFO_0004528 5.88e-12 5.88 -12 "" -2.301 -1.281 -1.791 "" EAS HANCESTRO_0009 UK Biobank 450k "" 2153 2153 16.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CASR Phosphate (30810) EFO_0010968 1.87e-11 1.87 -11 "" -0.436 -0.239 -0.338 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079037 377669 377669 347.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IGFALS IGF 1 (30770) EFO_0004627 2.2299999999999997e-140 2.23 -140 "" -0.557 -0.476 -0.516 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1916.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Leg predicted mass right (23114) EFO_0004302 9.74e-14 9.74 -14 "" 0.254 0.436 0.345 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078917 423649 423649 157.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC4A1 High light scatter reticulocyte count (30300) EFO_0007986 2.94e-29 2.94 -29 "" 1.394 1.983 1.688 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 38.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SCUBE3 Weight (23098) EFO_0004338 1.83e-11 1.83 -11 "" -0.203 -0.111 -0.157 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078902 423702 423702 1216.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" OCA2 Hair colour natural before greying - Blonde (1747) EFO_0007822 4.69e-214 4.69 -214 3.95 oddsRatioConfidenceIntervalLower 4.306 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077606 429979 48595 1017.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IQGAP2 Albumin (30600) EFO_0004535 6.73e-17 6.73 -17 "" -0.27 -0.168 -0.219 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079012 378401 378401 1292.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EGFL8 ICD10 L40.9: Psoriasis, unspecified EFO_0000676 5.39e-12 5.39 -12 2.633 oddsRatioConfidenceIntervalLower 3.467 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080348 386981 2364 69.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Non cancer illness code self reported - atrial fibrillation EFO_0000275 4.16e-19 4.16 -19 2.799 oddsRatioConfidenceIntervalLower 3.508 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077881 331754 3921 108.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" POLE Mean corpuscular volume (30040) EFO_0004526 1.11e-12 1.11 -12 "" 0.128 0.226 0.177 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 1257.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN Impedance of arm left (23110) HP_0000924 3.84e-30 3.84 -30 "" 0.094 0.134 0.114 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 4408.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TP53 ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 1.67e-14 1.67 -14 16.566 oddsRatioConfidenceIntervalLower 33.933 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 16.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Comparative body size at age 10 - Plumper (1687) EFO_0009819 2.3800000000000002e-32 2.38 -32 6.071 oddsRatioConfidenceIntervalLower 8.183 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077589 423612 68629 104.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" IGFALS Whole body fat free mass (23101) EFO_0004995 3.18e-15 3.18 -15 "" -0.126 -0.076 -0.101 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078905 423664 423664 1958.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TYMP Mean reticulocyte volume (30260) EFO_0010701 1.14e-12 1.14 -12 "" -0.343 -0.195 -0.269 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 586.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APOC3 Triglycerides (30870) EFO_0004530 2.38e-102 2.38 -102 "" -1.28 -1.066 -1.173 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 277.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 ICD10 D69: Purpura and other hemorrhagic conditions MONDO_0002243 3.14e-20 3.14 -20 4.628 oddsRatioConfidenceIntervalLower 6.411 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079715 386945 2456 58.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" IGF2BP2 Standing height (50) EFO_0004339 9.24e-18 9.24 -18 "" -0.303 -0.19 -0.247 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 408.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ADAMTS10 Standing height (50) EFO_0004339 8.270000000000001e-31 8.27 -31 "" -0.48 -0.341 -0.411 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 263.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SERPINH1 Standing height (50) EFO_0004339 7.94e-18 7.94 -18 "" -0.723 -0.455 -0.589 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 71.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KLF1 Mean corpuscular haemoglobin (30050) EFO_0004527 2.0800000000000002e-29 2.08 -29 "" -1.175 -0.826 -1.001 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 99.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RP11-545J16.1 Total bilirubin (30840) EFO_0004570 4.95e-12 4.95 -12 "" 0.114 0.204 0.159 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1209.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 Creatinine (30700) EFO_0004518 5.8500000000000004e-43 5.85 -43 "" 0.56 0.747 0.654 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079025 411881 411881 252.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PKD1 ICD10 Z94: Transplanted organ and tissue status EFO_0002571 1.28e-60 1.28 -60 121.186 oddsRatioConfidenceIntervalLower 214.823 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081418 387906 1305 38.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" ADAMTSL4 Standing height (50) EFO_0004339 6.46e-16 6.46 -16 "" -0.121 -0.074 -0.098 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 2329.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TUBB1 Platelet distribution width (30110) EFO_0007984 4.72e-12 4.72 -12 "" 0.608 1.09 0.849 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9952 9952 72.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Pulse rate (4194) EFO_0004326 6.85e-14 6.85 -14 "" 0.112 0.191 0.151 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079160 173103 173103 2342.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TFRC Red blood cell erythrocyte distribution width (30070) EFO_0009188 6.0199999999999995e-25 6.02 -25 "" 0.827 1.215 1.021 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 87.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" CAD Mean sphered cell volume (30270) EFO_0004526 1.48e-45 1.48 -45 "" 0.769 1.016 0.893 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 208.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SF3B1 Mean sphered cell volume (30270) EFO_0004526 1.44e-12 1.44 -12 "" 0.236 0.416 0.326 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 390.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GHRH Trunk predicted mass (23130) EFO_0004324 2.03e-15 2.03 -15 "" -0.465 -0.281 -0.373 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 143.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ABCG5 Cholesterol (30690) EFO_0004574 1.59e-11 1.59 -11 "" 0.198 0.36 0.279 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 494.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CHEK2 Mean corpuscular volume (30040) EFO_0004526 2.02e-12 2.02 -12 "" -0.12 -0.068 -0.094 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 5041.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ANGPTL3 HDL cholesterol (30760) EFO_0004612 9.96e-22 9.96 -22 "" -0.335 -0.221 -0.278 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 801.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SCUBE3 Trunk predicted mass (23130) EFO_0004324 6.28e-15 6.28 -15 "" -0.121 -0.073 -0.097 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078933 423325 423325 2062.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" EDEM1 Alkaline phosphatase (30610) EFO_0004533 7.600000000000001e-28 7.6 -28 "" 0.251 0.36 0.306 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 990.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" NOTCH1 Lymphocyte count (30120) EFO_0004587 9.239999999999999e-30 9.24 -30 "" 1.279 1.813 1.546 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 47.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HSPA9 Mean corpuscular haemoglobin (30050) EFO_0004527 1.3399999999999999e-24 1.34 -24 "" -0.705 -0.478 -0.592 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 232.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PALB2 ICD10 C77.3: Secondary and unspecified malignant neoplasm of axilla and upper limb lymph nodes MONDO_0024339 1.15e-12 1.15 -12 6.013 oddsRatioConfidenceIntervalLower 9.859 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079618 387930 2725 27.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SMAD6 6mm strong meridian right (5133) EFO_0004731 4.81e-18 4.81 -18 "" 0.318 0.504 0.411 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079299 90887 90887 354.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGF1R Leg fat free mass right (23113) EFO_0004995 2.9300000000000004e-21 2.93 -21 "" -0.28 -0.184 -0.232 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 568.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PCSK9 Non cancer illness code self reported - high cholesterol/ICD10 E78 HP_0003124 1.85e-11 1.85 -11 0.467 oddsRatioConfidenceIntervalLower 0.583 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077884 329052 49060 72.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 Self Report - breast cancer (20001) EFO_0000305 4.91e-14 4.91 -14 3.691 oddsRatioConfidenceIntervalLower 5.184 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077626 39614 10070 110.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RRBP1 Cholesterol (30690) EFO_0004574 5.64e-15 5.64 -15 "" -0.602 -0.36 -0.481 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 221.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" JAK2 High light scatter reticulocyte count (30300) EFO_0007986 1.51e-15 1.51 -15 "" 0.12 0.198 0.159 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 2136.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ADAMTS17 Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 2.46e-15 2.46 -15 "" -0.333 -0.201 -0.267 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 125.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" APC ICD10 Z09.0: Follow-up examination after surgery for other conditions (Z09.0) EFO_0004542 1.39e-11 1.39 -11 12.039 oddsRatioConfidenceIntervalLower 24.77 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081201 387930 5895 15.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" PFKM Glycated haemoglobin HbA1c (30750) EFO_0004541 9.66e-21 9.66 -21 "" -0.556 -0.363 -0.459 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 317.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 8.03e-20 8.03 -20 10.366 oddsRatioConfidenceIntervalLower 17.141 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 30.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Impedance of arm left (23110) HP_0000924 1.26e-32 1.26 -32 "" 0.128 0.178 0.153 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 2646.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TTN ICD10 I51: Complications and ill-defined descriptions of heart disease EFO_0003777 6.81e-13 6.81 -13 2.354 oddsRatioConfidenceIntervalLower 2.973 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080027 385880 6712 96.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" LCORL Standing height (50) EFO_0004339 1.27e-34 1.27 -34 "" 0.501 0.692 0.596 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 142.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" MSH2 ICD10 Z08.0: Follow-up examination after surgery for malignant neoplasm (Z08.0) EFO_0004542 5.37e-14 5.37 -14 14.322 oddsRatioConfidenceIntervalLower 28.654 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081197 387930 4711 17.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 DD Cancer - Yes (2453) EFO_0000311 6.43e-20 6.43 -20 1.689 oddsRatioConfidenceIntervalLower 1.89 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 411.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACVRL1 ICD10 I78: Diseases of capillaries EFO_0004264 2.62e-19 2.62 -19 168.599 oddsRatioConfidenceIntervalLower 516.038 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080057 386492 934 10.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" G6PD Glycated haemoglobin HbA1c (30750) EFO_0004541 1.98e-19 1.98 -19 "" -0.812 -0.522 -0.667 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9729 9729 91.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PTPN11 Arm fat free mass right (23121) EFO_0004995 1.08e-11 1.08 -11 "" -0.27 -0.149 -0.21 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078924 423573 423573 332.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SHBG Standing height (50) EFO_0004339 1.44e-12 1.44 -12 "" -0.063 -0.035 -0.049 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 7062.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASXL1 Platelet distribution width (30110) EFO_0007984 1.82e-35 1.82 -35 "" 0.331 0.456 0.393 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 823.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PLEKHO2 Platelet distribution width (30110) EFO_0007984 5.06e-12 5.06 -12 "" 0.491 0.88 0.686 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 81.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" FCGRT Total protein (30860) EFO_0004536 2.11e-13 2.11 -13 "" -2.443 -1.413 -1.928 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079043 377964 377964 13.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" CHD2 ICD10 C91: Lymphoid leukemia EFO_0004289 6.34e-15 6.34 -15 44.191 oddsRatioConfidenceIntervalLower 114.533 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079642 387829 878 11.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" COL4A3 Urea (30670) EFO_0009795 9.96e-12 9.96 -12 "" 0.049 0.089 0.069 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 8331.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CLSPN Mean corpuscular volume (30040) EFO_0004526 6.67e-17 6.67 -17 "" 0.326 0.525 0.426 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 298.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z90: Acquired absence of organs, not elsewhere classified EFO_0009124 5.02e-13 5.02 -13 2.087 oddsRatioConfidenceIntervalLower 2.547 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081395 385558 20599 133.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z51.5: Encounter for palliative care EFO_0004542 3.3e-18 3.3 -18 4.036 oddsRatioConfidenceIntervalLower 5.527 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081283 387892 5496 61.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" G6PC IGF 1 (30770) EFO_0004627 1.02e-11 1.02 -11 "" -0.206 -0.114 -0.16 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 1448.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FLCN ICD10 J93: Pneumothorax and air leak MONDO_0002076 4.53e-17 4.53 -17 10.892 oddsRatioConfidenceIntervalLower 19.016 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080153 387375 1190 24.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MSH6 ICD10 Z80.0: Family history of malignant neoplasm of digestive organs EFO_0009640 4.8e-12 4.8 -12 3.83 oddsRatioConfidenceIntervalLower 5.606 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081329 385471 9455 41.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" RPS6KB2 Mean corpuscular haemoglobin (30050) EFO_0004527 1.57e-13 1.57 -13 "" -0.108 -0.063 -0.086 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 5805.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" OCA2 Skin colour - Very fair (1717) EFO_0003784 1.1e-17 1.1 -17 6.172 oddsRatioConfidenceIntervalLower 9.361 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077597 425361 35374 45.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" KLF1 Red blood cell erythrocyte distribution width (30070) EFO_0009188 5.1899999999999995e-30 5.19 -30 "" 0.875 1.239 1.057 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 99.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" BRCA2 ICD10 Z42.1: Encounter for breast reconstruction following mastectomy EFO_0009786 2.09e-15 2.09 -15 6.36 oddsRatioConfidenceIntervalLower 10.043 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081257 387930 2185 32.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SH2B3 Haemoglobin concentration (30020) EFO_0004509 3.48e-13 3.48 -13 "" 0.088 0.153 0.12 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 2047.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LDLR Treatment or Medication Code - rosuvastatin EFO_0007010 5.8e-14 5.8 -14 10.505 oddsRatioConfidenceIntervalLower 19.404 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078225 320758 2905 20.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I50.9: Heart failure, unspecified EFO_0003144 1.25e-11 1.25 -11 2.445 oddsRatioConfidenceIntervalLower 3.168 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080022 387930 2407 78.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CHEK2 ICD10 C50: Malignant neoplasm of breast EFO_0003869 5.42e-20 5.42 -20 2.316 oddsRatioConfidenceIntervalLower 2.772 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 170.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SMAD6 Ankle spacing width left (4100) EFO_0004324 4.6e-14 4.6 -14 "" 0.365 0.621 0.493 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079148 166283 166283 151.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RHAG Mean reticulocyte volume (30260) EFO_0010701 4.24e-30 4.24 -30 "" -0.864 -0.61 -0.737 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 204.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RHAG Mean reticulocyte volume (30260) EFO_0010701 2.29e-16 2.29 -16 "" -0.718 -0.441 -0.579 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 171.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GCK Glucose (30740) EFO_0004468 2.18e-15 2.18 -15 "" 0.839 1.389 1.114 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079029 377948 377948 47.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RASGRP2 Lymphocyte count (30120) EFO_0004587 1.76e-15 1.76 -15 "" 0.143 0.237 0.19 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078991 418449 418449 2228.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA1 ICD10 C50: Malignant neoplasm of breast EFO_0003869 1.14e-20 1.14 -20 3.327 oddsRatioConfidenceIntervalLower 4.283 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079606 210588 12346 97.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Trunk fat free mass (23129) EFO_0004995 6.3299999999999995e-25 6.33 -25 "" -0.105 -0.072 -0.088 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 4402.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PROS1 VTE PE CC (RGC) EFO_0003827 2.48e-17 2.48 -17 6.359 oddsRatioConfidenceIntervalLower 9.757 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081536 376456 5226 37.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PDE3B Weight (21002) EFO_0004338 6.07e-14 6.07 -14 "" 0.099 0.169 0.134 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078685 429785 429785 2093.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" E2F8 Mean corpuscular volume (30040) EFO_0004526 2.49e-16 2.49 -16 "" 0.332 0.541 0.437 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 273.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CXCR2 Neutrophil count (30140) EFO_0004833 2.03e-22 2.03 -22 "" -0.602 -0.4 -0.501 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078993 418449 418449 335.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Whole body fat mass (23100) EFO_0005409 9.54e-13 9.54 -13 "" 0.058 0.101 0.08 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078904 423023 423023 6702.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" RHAG Total bilirubin (30840) EFO_0004570 5.03e-14 5.03 -14 "" 0.204 0.347 0.275 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 464.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CUBN Urinary AlbuminCreatinine Ratio (RGC) EFO_0007778 7.650000000000001e-21 7.65 -21 "" 0.195 0.299 0.247 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081533 126399 126399 1334.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" EPB41 Glycated haemoglobin HbA1c (30750) EFO_0004541 3.1500000000000004e-27 3.15 -27 "" -0.843 -0.584 -0.714 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079030 412234 412234 176.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Trunk fat free mass (23129) EFO_0004995 1.26e-18 1.26 -18 "" -0.08 -0.051 -0.066 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 5841.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Sitting height (20015) EFO_0011011 5.290000000000001e-21 5.29 -21 "" 0.108 0.164 0.136 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 2097.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GPT Alanine aminotransferase (30620) EFO_0004735 2.2300000000000002e-307 2.23 -307 "" -1.345 -1.283 -1.314 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 3248.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PKD1 Treatment or Medication Code - doxazosin EFO_0007010 1.22e-12 1.22 -12 7.583 oddsRatioConfidenceIntervalLower 13.263 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078093 320758 5111 23.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN Treatment or Medication Code - digoxin EFO_0007010 2.05e-12 2.05 -12 3.676 oddsRatioConfidenceIntervalLower 5.285 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078240 320758 1185 44.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GIGYF1 T2D (RGC) MONDO_0005148 4.58e-13 4.58 -13 4.769 oddsRatioConfidenceIntervalLower 7.28 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081516 386145 30259 42.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANTXR1 Impedance of arm left (23110) HP_0000924 2.01e-17 2.01 -17 "" -0.182 -0.114 -0.148 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 1439.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PDE3B Apolipoprotein A (30630) EFO_0004732 1.34e-18 1.34 -18 "" 0.179 0.281 0.23 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 1058.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" JAK2 IGF 1 (30770) EFO_0004627 3.5e-17 3.5 -17 "" -0.759 -0.473 -0.616 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 149.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOC3 HDL cholesterol (30760) EFO_0004612 2.2300000000000002e-307 2.23 -307 "" 0.764 0.836 0.8 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079031 378217 378217 1988.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRE Triglycerides (30870) EFO_0004530 1.53e-12 1.53 -12 "" 0.056 0.098 0.077 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079044 411757 411757 6967.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TNFRSF10B Gamma glutamyltransferase (30730) EFO_0004532 4.44e-12 4.44 -12 "" 0.125 0.224 0.174 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 1165.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" PALB2 DD Cancer - Yes (2453) EFO_0000311 5.43e-12 5.43 -12 2.083 oddsRatioConfidenceIntervalLower 2.566 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078950 429556 36403 128.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SPTA1 Reticulocyte percentage (30240) EFO_0010700 1.83e-45 1.83 -45 "" 0.667 0.882 0.775 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 299.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" DTL Standing height (50) EFO_0004339 2.13e-22 2.13 -22 "" -0.27 -0.18 -0.225 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 637.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ACAN Trunk fat free mass (23129) EFO_0004995 1.62e-19 1.62 -19 "" -0.578 -0.372 -0.475 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 115.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC34A3 Urea (30670) EFO_0009795 6.09e-15 6.09 -15 "" 0.091 0.152 0.121 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079022 411808 411808 3538.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 N28: Other disorders of kidney and ureter, not elsewhere classified EFO_0009690 1.48e-12 1.48 -12 8.7 oddsRatioConfidenceIntervalLower 15.839 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080595 387002 3413 20.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" PKD1 Treatment or Medication Code - prednisolone EFO_0007010 2.88e-15 2.88 -15 12.131 oddsRatioConfidenceIntervalLower 22.54 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078076 320758 2671 20.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TYRP1 Hair colour natural before greying - Dark brown (1747) EFO_0007822 1.35e-16 1.35 -16 0.362 oddsRatioConfidenceIntervalLower 0.46 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 82.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Direct bilirubin (30660) EFO_0004570 2.05e-12 2.05 -12 "" 0.455 0.808 0.632 "" SAS HANCESTRO_0006 UK Biobank 450k "" 8157 8157 95.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Direct bilirubin (30660) EFO_0004570 2.05e-12 2.05 -12 "" 0.455 0.808 0.632 "" SAS HANCESTRO_0006 UK Biobank 450k "" 8157 8157 95.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" GP1BA Platelet distribution width (30110) EFO_0007984 3.06e-17 3.06 -17 "" 0.61 0.978 0.794 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 91.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" KDM5B Mean time to correctly identify matches (20023) EFO_0008354 1.29e-14 1.29 -14 "" 0.166 0.279 0.222 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078252 427920 427920 1015.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" GCK Non cancer illness code self reported - diabetes EFO_0000400 4.71e-16 4.71 -16 17.612 oddsRatioConfidenceIntervalLower 35.203 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077722 331754 17927 21.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" LCORL Leg fat free mass right (23113) EFO_0004995 1e-13 10.0 -14 "" 0.256 0.439 0.347 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078916 423650 423650 157.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ASXL1 Current tobacco smoking - Yes on most or all days (1239) EFO_0005671 8.65e-15 8.65 -15 1.523 oddsRatioConfidenceIntervalLower 1.693 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077584 430498 33523 442.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CAD Mean corpuscular haemoglobin (30050) EFO_0004527 4.13e-15 4.13 -15 "" 0.359 0.597 0.478 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078983 419189 419189 210.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Reticulocyte count (30250) EFO_0007986 1.4e-15 1.4 -15 "" 0.145 0.239 0.192 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 1495.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" UGT1A1 Total bilirubin (30840) EFO_0004570 1.2300000000000001e-36 1.23 -36 "" 0.708 0.968 0.838 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 195.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" NFKBIE ICD10 C91.1: Chronic lymphocytic leukemia of B-cell type EFO_0000095 2.17e-15 2.17 -15 59.042 oddsRatioConfidenceIntervalLower 161.751 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079641 387926 669 10.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TTN ICD10 I50.1: Left ventricular failure, unspecified EFO_0003144 1.85e-15 1.85 -15 2.382 oddsRatioConfidenceIntervalLower 2.95 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080021 387725 4762 115.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MC4R Hip circumference (49) EFO_0005093 7.93e-15 7.93 -15 "" 0.384 0.643 0.513 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079253 430214 430214 202.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SCUBE3 Sitting height (20015) EFO_0011011 2.8800000000000002e-21 2.88 -21 "" -0.167 -0.11 -0.138 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 2094.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" KLF1 Haemoglobin concentration (30020) EFO_0004509 1.39e-14 1.39 -14 "" -0.387 -0.23 -0.309 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 348.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" RHAG Mean reticulocyte volume (30260) EFO_0010701 1.45e-19 1.45 -19 "" -0.278 -0.179 -0.229 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 1331.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IRS1 Leg fat free mass left (23117) EFO_0004995 7.07e-17 7.07 -17 "" -0.514 -0.318 -0.416 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 140.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SPTA1 Mean sphered cell volume (30270) EFO_0004526 1.18e-28 1.18 -28 "" -0.692 -0.484 -0.588 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 299.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SPTA1 High light scatter reticulocyte percentage (30290) EFO_0010700 1.0600000000000001e-35 1.06 -35 "" 0.517 0.71 0.613 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 365.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLCO1B3 Direct bilirubin (30660) EFO_0004570 4.34e-31 4.34 -31 "" 0.242 0.34 0.291 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 1074.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANO5 Alanine aminotransferase (30620) EFO_0004735 2.71e-20 2.71 -20 "" 0.117 0.18 0.148 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079014 411932 411932 3141.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TMPRSS6 Haemoglobin concentration (30020) EFO_0004509 5.4e-23 5.4 -23 "" -0.466 -0.312 -0.389 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 361.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MFSD2B Reticulocyte count (30250) EFO_0007986 4.24e-18 4.24 -18 "" -0.138 -0.087 -0.113 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 5757.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HNF1A Non cancer illness code self reported - diabetes/ICD10 E14 EFO_0000400 1.06e-11 1.06 -11 7.369 oddsRatioConfidenceIntervalLower 13.106 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077723 329052 16961 23.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ACO1 Red blood cell erythrocyte count (30010) EFO_0004305 1.08e-14 1.08 -14 "" 0.063 0.106 0.084 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 5181.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ANKRD12 Red blood cell erythrocyte count (30010) EFO_0004305 1.18e-12 1.18 -12 "" 0.227 0.401 0.314 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078979 419193 419193 312.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" APOB Direct bilirubin (30660) EFO_0004570 2.07e-44 2.07 -44 "" 0.431 0.571 0.501 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079021 351671 351671 649.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I42: Cardiomyopathy EFO_0000318 1.61e-48 1.61 -48 5.313 oddsRatioConfidenceIntervalLower 6.645 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 128.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ACAN Arm fat free mass left (23125) EFO_0004995 7.37e-20 7.37 -20 "" -0.802 -0.518 -0.66 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078928 423502 423502 63.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BORA Mean reticulocyte volume (30260) EFO_0010701 4.82e-16 4.82 -16 "" -0.138 -0.084 -0.111 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 4494.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" BRCA2 Illnesses of siblings - Breast cancer (20111) EFO_0009640 6.9700000000000005e-37 6.97 -37 3.654 oddsRatioConfidenceIntervalLower 4.464 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078292 371732 16443 154.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ANGPTL7 Intra ocular pressure Goldmann correlated left (5263) EFO_0004695 3.23e-19 3.23 -19 "" -0.245 -0.157 -0.201 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079338 105697 105697 1861.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ZFAT Trunk fat free mass (23129) EFO_0004995 5.7e-15 5.7 -15 "" 0.253 0.423 0.338 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078932 423364 423364 170.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I42: Cardiomyopathy EFO_0000318 1.61e-48 1.61 -48 5.313 oddsRatioConfidenceIntervalLower 6.645 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080000 387709 1789 128.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PDE3B Leg predicted mass left (23118) EFO_0004302 7.59e-14 7.59 -14 "" 0.071 0.122 0.096 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078921 423618 423618 2067.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" SLC4A1 Total bilirubin (30840) EFO_0004570 1.81e-12 1.81 -12 "" 0.119 0.211 0.165 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 1129.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" GHRH IGF 1 (30770) EFO_0004627 6.51e-14 6.51 -14 "" -0.827 -0.484 -0.656 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079032 409926 409926 104.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SPTA1 High light scatter reticulocyte count (30300) EFO_0007986 2.43e-25 2.43 -25 "" 0.454 0.665 0.56 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079006 412333 412333 299.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANKRD12 Calcium (30680) EFO_0004838 6.93e-13 6.93 -13 "" -0.519 -0.297 -0.408 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079023 378246 378246 281.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" CALR Reticulocyte percentage (30240) EFO_0010700 7.25e-12 7.25 -12 "" 0.555 0.999 0.777 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079000 412501 412501 69.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" DTL Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 9.98e-12 9.98 -12 "" -0.455 -0.252 -0.353 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 53.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" MITF Hair colour natural before greying - Dark brown (1747) EFO_0007822 2.31e-12 2.31 -12 0.795 oddsRatioConfidenceIntervalLower 0.848 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 1653.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN Non cancer illness code self reported - atrial fibrillation/ICD10 I48 EFO_0000275 3.12e-15 3.12 -15 2.351 oddsRatioConfidenceIntervalLower 2.908 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077882 329052 3763 116.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LPL Apolipoprotein A (30630) EFO_0004732 5.64e-25 5.64 -25 "" -0.407 -0.277 -0.342 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079016 376129 376129 654.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN ICD10 I50.1: Left ventricular failure, unspecified EFO_0003144 5.46e-12 5.46 -12 3.968 oddsRatioConfidenceIntervalLower 5.871 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080021 387725 4762 39.0 "" ADD-WGR-FIRTH_M1.singleton Burden test carried out with singleton pLOF variants. 34662886 "" +REGENERON "" BRCA1 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 8.86e-19 8.86 -19 2.989 oddsRatioConfidenceIntervalLower 3.81 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 97.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ASGR1 Alkaline phosphatase (30610) EFO_0004533 4.94e-65 4.94 -65 "" 0.859 1.082 0.971 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079013 412086 412086 240.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SPHK1 High light scatter reticulocyte percentage (30290) EFO_0010700 8.35e-36 8.35 -36 "" -0.175 -0.128 -0.152 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 5986.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" SLC45A2 Hair colour natural before greying - Dark brown (1747) EFO_0007822 1.68e-44 1.68 -44 0.431 oddsRatioConfidenceIntervalLower 0.485 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077609 429979 164398 376.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" ASXL1 ICD10 D47: Other neoplasms of uncertain behavior of lymphoid, hematopoietic and related tissue EFO_0000616 3.92e-12 3.92 -12 7.97 oddsRatioConfidenceIntervalLower 14.323 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079699 387427 987 20.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" IRS1 Arm predicted mass left (23126) EFO_0004302 6.8e-20 6.8 -20 "" -0.538 -0.348 -0.443 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078929 423485 423485 140.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TRIM58 Mean platelet thrombocyte volume (30100) EFO_0004584 5.08e-14 5.08 -14 "" -0.08 -0.047 -0.063 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 11951.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" IGFALS Whole body water mass (23102) EFO_0009805 6.32e-15 6.32 -15 "" -0.125 -0.075 -0.1 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078906 423698 423698 1958.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ATR Mean sphered cell volume (30270) EFO_0004526 1.27e-19 1.27 -19 "" -0.165 -0.106 -0.136 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079003 412334 412334 3704.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" COL1A1 Non cancer illness code self reported - bone disorder/ICD10 M85 EFO_0004260 1.2e-12 1.2 -12 67.485 oddsRatioConfidenceIntervalLower 215.665 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077770 329052 841 9.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" ATM ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 1.28e-15 1.28 -15 2.652 oddsRatioConfidenceIntervalLower 3.369 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 96.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" A1CF Gamma glutamyltransferase (30730) EFO_0004532 7.27e-13 7.27 -13 "" 0.159 0.278 0.218 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079028 411861 411861 802.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB High light scatter reticulocyte percentage (30290) EFO_0010700 5.38e-13 5.38 -13 "" 0.502 0.876 0.689 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079005 412334 412334 96.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Forced expiratory volume in 1 second FEV1 predicted (20153) EFO_0004314 1.02e-15 1.02 -15 "" 0.323 0.532 0.427 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078319 136823 136823 50.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 Z94: Transplanted organ and tissue status EFO_0002571 3.9500000000000004e-65 3.95 -65 70.452 oddsRatioConfidenceIntervalLower 114.923 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081418 387906 1305 47.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ANGPTL7 3mm weak meridian right (5099) EFO_0004731 2e-14 2.0 -14 "" 0.12 0.202 0.161 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079276 103540 103540 1842.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" MEN1 ICD10 E21.3: Hyperparathyroidism, unspecified EFO_0008506 4.85e-12 4.85 -12 298.59 oddsRatioConfidenceIntervalLower 1503.59 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079752 387820 512 5.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" BRCA1 ICD10 Z51.1: Encounter for antineoplastic chemotherapy and immunotherapy EFO_0004542 2.15e-17 2.15 -17 2.732 oddsRatioConfidenceIntervalLower 3.447 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081279 387926 12171 103.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" JAK2 Platelet distribution width (30110) EFO_0007984 1.13e-15 1.13 -15 "" 0.116 0.191 0.154 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078990 419059 419059 2164.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" LCORL Sitting height (20015) EFO_0011011 2.51e-16 2.51 -16 "" 0.255 0.415 0.335 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078245 430080 430080 263.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.75e-114 1.75 -114 "" 1.941 2.307 2.124 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 98.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" MC1R Hair colour natural before greying - Red (1747) EFO_0007822 2.2300000000000002e-307 2.23 -307 8.338 oddsRatioConfidenceIntervalLower 9.316 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077607 429979 19553 1557.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TTN ICD10 I50.1: Left ventricular failure, unspecified EFO_0003144 5.46e-12 5.46 -12 3.968 oddsRatioConfidenceIntervalLower 5.871 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90080021 387725 4762 39.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" IDH2 ICD10 C92: Myeloid leukemia EFO_0002427 4.34e-15 4.34 -15 13.482 oddsRatioConfidenceIntervalLower 25.824 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079643 387913 572 18.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TET2 Haematocrit percentage (30030) EFO_0004348 4.95e-15 4.95 -15 "" -0.179 -0.108 -0.143 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078981 419193 419193 1779.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TFR2 Haemoglobin concentration (30020) EFO_0004509 1.1e-18 1.1 -18 "" 0.161 0.252 0.207 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078980 419192 419192 1024.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" SLC4A1 Reticulocyte count (30250) EFO_0007986 7.39e-17 7.39 -17 "" 0.588 0.949 0.768 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079001 412501 412501 102.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" BRCA1 Bilateral oophorectomy both ovaries removed - Yes (2834) EFO_0009717 7.31e-26 7.31 -26 4.743 oddsRatioConfidenceIntervalLower 6.34 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078963 230512 19323 86.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TYR Ease of skin tanning - Never tan only burn (1727) EFO_0007009 2.76e-62 2.76 -62 2.182 oddsRatioConfidenceIntervalLower 2.392 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90077605 422570 75919 821.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" ARHGAP10 Mean platelet thrombocyte volume (30100) EFO_0004584 2.63e-14 2.63 -14 "" 0.201 0.34 0.27 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078989 419184 419184 562.0 "" ADD-WGR-FIRTH_M1.001 Burden test carried out with pLOF variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" NOTCH1 Type of Cancer: Chronic lymphocytic leukemia of B-cell type (40006) EFO_0000095 6.270000000000001e-27 6.27 -27 480.545 oddsRatioConfidenceIntervalLower 1482.21 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079124 74230 571 14.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" UGT1A7 Total bilirubin (30840) EFO_0004570 3.15e-15 3.15 -15 "" 0.318 0.529 0.424 "" SAS HANCESTRO_0006 UK Biobank 450k "" 9811 9811 336.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" PKD1 ICD10 Z99.2: Dependence on renal dialysis EFO_0010690 2.88e-37 2.88 -37 31.226 oddsRatioConfidenceIntervalLower 52.985 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081442 385553 1868 34.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TERT Mean reticulocyte volume (30260) EFO_0010701 1.81e-14 1.81 -14 "" 0.337 0.568 0.453 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079002 412501 412501 239.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" ACAN Leg fat free mass left (23117) EFO_0004995 2.58e-14 2.58 -14 "" -0.848 -0.501 -0.674 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078920 423624 423624 44.0 "" ADD-WGR-FIRTH_M3.singleton Burden test carried out with singleton pLOF and deleterious missense variants. 34662886 "" +REGENERON "" TTN HF (RGC) EFO_0003144 1.95e-21 1.95 -21 2.085 oddsRatioConfidenceIntervalLower 2.425 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081485 387050 8159 226.0 "" ADD-WGR-FIRTH_M3.01 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" TTN HF (RGC) EFO_0003144 3.12e-34 3.12 -34 3.368 oddsRatioConfidenceIntervalLower 4.094 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90081485 387050 8159 156.0 "" ADD-WGR-FIRTH_M1.0001 Burden test carried out with pLOF variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" APOB Cholesterol (30690) EFO_0004574 4.92e-92 4.92 -92 "" -0.637 -0.525 -0.581 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079024 412075 412075 1040.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" TUBB1 Platelet count (30080) EFO_0004309 1.88e-116 1.88 -116 "" -0.247 -0.208 -0.227 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078987 419189 419189 7843.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" TMPRSS6 Mean corpuscular volume (30040) EFO_0004526 1.96e-38 1.96 -38 "" -0.695 -0.513 -0.604 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 361.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" CD36 Red blood cell erythrocyte distribution width (30070) EFO_0009188 1.66e-19 1.66 -19 "" 0.15 0.232 0.191 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078986 419192 419192 1930.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" HBB Red blood cell erythrocyte count (30010) EFO_0004305 1.63e-13 1.63 -13 "" 1.45 2.499 1.975 "" AFR HANCESTRO_0010 UK Biobank 450k "" 8639 8639 14.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" FBN2 Impedance of whole body (23106) HP_0000924 2.02e-11 2.02 -11 "" 0.097 0.177 0.137 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078909 424003 424003 1192.0 "" ADD-WGR-FIRTH_M3.0001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.001%. 34662886 "" +REGENERON "" SLC26A5 Hearing difficulty problems - Yes (2247) EFO_0007616 2.46e-20 2.46 -20 1.976 oddsRatioConfidenceIntervalLower 2.284 "" "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078871 415164 114857 352.0 "" ADD-WGR-FIRTH_M3.001 Burden test carried out with pLOF and deleterious missense variants with a MAF smaller than 0.01%. 34662886 "" +REGENERON "" TMPRSS6 Mean corpuscular volume (30040) EFO_0004526 1.96e-38 1.96 -38 "" -0.695 -0.513 -0.604 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078982 419192 419192 361.0 "" ADD-WGR-FIRTH_M1.01 Burden test carried out with pLOF variants with a MAF smaller than 0.1%. 34662886 "" +REGENERON "" OBSCN Impedance of arm left (23110) HP_0000924 6.82e-13 6.82 -13 "" -0.03 -0.017 -0.024 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90078913 424014 424014 44590.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" UGT1A3 Total bilirubin (30840) EFO_0004570 2.91e-14 2.91 -14 "" 0.114 0.193 0.154 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079041 410431 410431 2103.0 "" ADD-WGR-FIRTH_M3.1 Burden test carried out with pLOFs and deleterious missense variants with a MAF smaller than 1%. 34662886 "" +REGENERON "" LCORL Standing height (50) EFO_0004339 2.95e-32 2.95 -32 "" 0.45 0.629 0.54 "" EUR HANCESTRO_0005 UK Biobank 450k GCST90079277 430070 430070 161.0 "" ADD-WGR-FIRTH_M1.1 Burden test carried out with pLOF variants with a MAF smaller than 1%. 34662886 ""