rs33978901
A SNP in the VWF gene on chromosome 12. Its most notable genotype is C;T: association with Von Willebrand disease type 1
- Gene
- VWF
- Location
- Chr 126,031,493 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon/normal
- C;TMost notableBadassociation with Von Willebrand disease type 1
- T;TBadassociation with Von 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
- rs41276738T;TVon Willebrand disease, type 1Very important
- 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
Notes
From SNPedia
Notes
rs33978901, also known as c.2771G>A, p.Arg924Gln and R924Q, is a SNP in the VWF gene on chromosome 12. The rarer rs33978901(T) allele (in dbSNP and SNPedia orientation) leads to reductions in VWF and FVIII levels particularly in combination with blood group O. Its inheritance alone may be insufficient for the diagnosis of Von Willebrand disease, but it does appear to be associated with a further VWF level reduction in individuals with a second VWF mutation and it also contributes to population variance in VWF and FVIII levels according to a 2010 publication. This SNP is referred to as i5049145 by 23andMe.
C;T
see discussion at rs33978901
T;T
see discussion at rs33978901
Source and license
Adapted from rs33978901 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.