rs62643632
A SNP in the VWF gene on chromosome 12. Its most notable genotype is -;-: Von Willebrand disease, type 3
- Gene
- VWF
- Location
- Chr 126,044,298 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- Not on consumer chips
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- -;-Most notableBadVon Willebrand disease, type 3
- -;GBadcarrier of a Von Willebrand disease allele
- G;GGoodcommon in clinvar
SNPedia records rs62643632 on the minus strand: (-;-), (-;C), (C;C). 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
rs62643632, also known as c.2435delC and p.Pro812Argfs, is a SNP in the VWF gene on chromosome 12. The rare rs62643632(-) allele is considered pathogenic for Von Willebrand disease, type 3, according to ClinVar and the VWFdb. This SNP does not appear to be represented on the DNA chip currently used by 23andMe. An error in late July in SNPedia indicated that this SNP was referred to as i5039483 by 23andMe, but that SNP is actually the adjacent nucleotide.
-;-
see discussion at rs62643632
-;G
see discussion at rs62643632
Source and license
Adapted from rs62643632 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.