rs1800382

This is a variant in the VWF gene that changes a arginine to an histidine.

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GWAS Catalog Trait Associations (2)

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

von Willebrand factor quality

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele T

OR 1.25

p 1.0e-96

N 10,708

Large GWAS

European

protein measurement

Western D et al. “Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.” Nature Genetics 56(12):2672-2684 (2024)

Allele T

OR 1.39

p 9.0e-42

N 3,506

Large GWAS

European

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ClinVar annotation

Pathogenic★★★★

16 submitters19 publications

Abnormality of coagulation; Hereditary von Willebrand disease; VWF-related disorder; not specified; von Willebrand disease type 1 (VWD1); von Willebrand disease type 2 (VWD2); von Willebrand disease type 3 (VWD3)

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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]