rs41276738
A SNP in the VWF gene on chromosome 12. Its most notable genotype is T;T: Von Willebrand disease, type 1
- Gene
- VWF
- Location
- Chr 126,034,812 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;TBadcarrier of a Von Willebrand disease allele
- T;TMost notableBadVon Willebrand disease, type 1
On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other VWF SNPs
- rs61748477A;AVon Willebrand disease, type 2NVery important
- rs61748478C;CVon Willebrand disease, type 2NVery important
- rs61748497G;GVon Willebrand disease, type 2NVery important
- rs61750584G;GVon Willebrand disease, type 2AVery important
- rs61750595A;Alikely miscall in Ancestry V2.0 datasets; otherwise, Von Willebrand disease, type 3Very important
- rs61750612A;AVon Willebrand disease, type 3Very important
- rs61750630A;AVon Willebrand disease, type 3Very important
- rs61751296A;AVon Willebrand disease, type 3Very important
Notes
From SNPedia
Notes
rs41276738, also known as c.2561G>A, p.Arg854Gln and R854Q, is a SNP in the VWF gene on chromosome 12. The rare rs41276738(T) allele (in SNPedia orientation) is considered pathogenic for Von Willebrand disease, type 1, according to ClinVar and the VWFdb. This SNP is also referred to as i5049144 by 23andMe.
C;T
see discussion at rs41276738
T;T
see discussion at rs41276738
Source and license
Adapted from rs41276738 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.