rs529565

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GWAS Catalog Trait Associations (19)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

level of cobalamin binding intrinsic factor in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.15
p 8.0e-167
N 47,745
Large GWAS
European

level of lithostathine-1-beta in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.14
p 9.0e-143
N 47,745
Large GWAS
European

venous thromboembolism

Germain M et al. “Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism.” American Journal of Human Genetics 96(4):532-42 (2015)
Allele C
OR 1.55
p 4.0e-75
N 60,139
Meta-analysisLarge GWAS
European

bromodomain testis-specific protein measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.10
p 1.0e-52
N 47,745
Large GWAS
European

mannose-binding protein C measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.22
p 1.0e-52
N 10,708
Large GWAS
European

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.20
p 5.0e-51
N 10,708
Large GWAS
European

monocyte percentage of leukocytes

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.03
p 2.0e-29
N 408,112
Large GWAS
European
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Research that mentions this SNP (1)

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Gene‐centric approach identifies new and known loci for F VIII activity and VWF antigen levels in E uropean A mericans and A frican A mericans
AssociationN=23,603Weihong Tang et al.(2015)· American Journal of Hematology

Gene-centric association study of 18,556 European Americans and 5,047 African Americans identified novel genetic loci associated with Factor VIII coagulant activity (FVIII:C) and von Willebrand factor antigen (VWF:Ag). New associations were found at KNG1 (rs710446, Ile581Thr, p=5.10×10⁻⁷ in EAs; p=3.88×10⁻³ in AAs), VWF (rs7962217, Gly2705Arg, p=6.30×10⁻⁹ in EAs; p=2.98×10⁻² in AAs), TMLHE (rs12557310, p=8.02×10⁻¹⁰ in EAs), and MAT1A (rs2236568, p=1.69×10⁻⁶ in AAs). Variants explained 14.5% of variance in FVIII:C and 15.6% in VWF:Ag.

Traits studied:Cardiovascular diseaseFactor VIII coagulant activity (FVIII:C)Venous thromboembolismvon Willebrand factor antigen (VWF:Ag)
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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