rs61750612
A SNP in the VWF gene on chromosome 12. Its most notable genotype is A;A: Von Willebrand disease, type 3
- Gene
- VWF
- Location
- Chr 126,013,544 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- A;GBadVon Willebrand disease; carrier or Type 1
- A;AMost notableBadVon Willebrand disease, type 3
SNPedia records rs61750612 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
- rs61750630A;AVon Willebrand disease, type 3Very important
- rs61751296A;AVon Willebrand disease, type 3Very important
Notes
From SNPedia
Notes
rs61750612, also known as c.5557C>T, p.Arg1853Ter, R1852X and R1853X, is a SNP in the VWF gene on chromosome 12. The rare rs61750612(T) allele is considered pathogenic for Von Willebrand disease, type 3, according to ClinVar and the VWFdb, at least when homozygous or compound heterozygous. It is possible that on it's own this allele leads to Type 1 Von Willebrand disease. This SNP is also referred to as i5049228 by 23andMe.
A;G
Either a carrier for a Type 3 allele, or, a possible Type 1 patient; see discussion at rs61750612.
A;A
see discussion at rs61750612
Source and license
Adapted from rs61750612 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.