rs216321

This is a protein-altering variant in the VWF gene.

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GWAS Catalog Trait Associations (1)

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

venous thromboembolism

Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)

Allele C

OR 0.10

p 2.0e-10

N 1,063,277

Meta-analysisLarge GWAS

multi-ancestry

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ClinVar annotation

Benign★★★★

4 submitters1 publication

not provided; Hereditary von Willebrand disease; not specified

View on ClinVar →

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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)

PubMed DOI Metascience Observatory

About VWF

This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the transport of various proteins in the blood. Mutations in this gene result in von Willebrand disease, an inherited bleeding disorder. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Oct 2015]