rs267607353
A SNP in the VWF gene on chromosome 12. Its most notable genotype is C;C: Von Willebrand disease, type 2CB
- Gene
- VWF
- Location
- Chr 126,016,197 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;CMost notableBadVon Willebrand disease, type 2CB
- A;CBadvon Willebrand disease
- A;AGoodcommon in clinvar
SNPedia records rs267607353 on the minus strand: (G;G), (G;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
rs267607353, also known as c.5347T>G, p.Ser1783Ala is a SNP in the VWF gene on chromosome 12. The rare rs267607353(G) allele is considered pathogenic for Von Willebrand disease, type 2CB, according to ClinVar and the VWFdb. This SNP is referred to as i5049344 by 23andMe.
C;C
see discuss at rs267607353
Source and license
Adapted from rs267607353 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.