rs61749372
A SNP in the VWF gene on chromosome 12. Its most notable genotype is G;G: Von Willebrand disease, type 2A
- Gene
- VWF
- Location
- Chr 126,019,604 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GMost notableBadVon Willebrand disease, type 2A
- A;GBadVon Willebrand disease, type 2A
- A;AGoodcommon in clinvar
SNPedia records rs61749372 on the minus strand: (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
rs61749372, also known as c.3814T>C, p.Cys1272Arg and C1272R, is a SNP in the VWF gene on chromosome 12. The rare rs61749372(C) allele is considered pathogenic for Von Willebrand disease, type 2A, according to ClinVar and the VWFdb. This SNP is also referred to as i5049192 by 23andMe.
G;G
see discussion at rs61749372
A;G
see discussion at rs61749372
Source and license
Adapted from rs61749372 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.