rs216311

This is a variant in the VWF gene that changes a threonine to an alanine.

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GWAS Catalog Trait Associations (7)

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

dihydrofolate reductase 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 0.58
p —
N 10,708
Large GWAS
European
Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR —
β 0.620
p 3.0e-148
N 3,301
Large GWAS
European

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele T
OR 0.34
p 3.0e-82
N 5,353
Large GWAS
European

platelet volume

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 4.0e-38
N 408,112
Large GWAS
European
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele C
OR 0.03
p 7.0e-15
N 164,454
Large GWAS
European

probable inactive ribonuclease-like protein 13 measurement

Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele C
OR 0.81
p 2.0e-23
N 197
Small GWAS
European

platelet count

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 0.02
p 4.0e-21
N 394,642
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.02
p 2.0e-20
N 408,112
Large GWAS
European

level of dihydrofolate reductase in blood serum

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele C
OR 0.83
p 4.0e-19
N 466
Small GWAS
African American or Afro-Caribbean

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 0.09
p 4.0e-13
N 10,708
Large GWAS
European
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ClinVar annotation

Likely Benign★★★★
11 submitters2 publications

Hereditary von Willebrand disease; not specified; von Willebrand disease type 1 (VWD1); von Willebrand disease type 2 (VWD2); von Willebrand disease type 3 (VWD3)

View on ClinVar →
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Research that mentions this SNP (1)

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Changes of plasma vWF level in response to the improvement of air quality: an observation of 114 healthy young adults
AssociationN=114Zhonghai Yuan et al.(2013)· Annals of Hematology

This prospective observational study of 114 healthy young adults during the 2008 Beijing Olympics examined plasma von Willebrand factor (vWF) levels in relation to air quality improvements. Plasma vWF decreased significantly during the Olympic period when air pollution index declined, particularly for participants with O blood type and those with rs216311 (A1381T) homozygous threonine genotype, suggesting that air quality control may help prevent cardiovascular diseases.

Traits studied:Air pollution exposurevon Willebrand factor plasma levels
PubMedDOIMetascience 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]

View all VWF variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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