rs62643630
A SNP in the VWF gene on chromosome 12. Its most notable genotype is A;A: Von Willebrand disease, type 2N
- Gene
- VWF
- Location
- Chr 126,044,322 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- A;CBadcarrier of a Von Willebrand disease allele
- A;AMost notableBadVon Willebrand disease, type 2N
SNPedia records rs62643630 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
rs62643630, also known as c.2411G>T, p.Cys804Phe and C804F, is a SNP in the VWF gene on chromosome 12. The rare rs62643630(T) allele is considered pathogenic for Von Willebrand disease, type 2N, according to ClinVar and the VWFdb. This SNP is also referred to as i5049338 by 23andMe.
A;C
see discussion at rs62643630
A;A
see discussion at rs62643630
Source and license
Adapted from rs62643630 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.