rs61750591
A SNP in the VWF gene on chromosome 12. Its most notable genotype is -;-: Von Willebrand disease, type 1 (likely)
- Gene
- VWF
- Location
- Chr 126,018,474 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- -;-Most notableBadVon Willebrand disease, type 1 (likely)
- -;ABadVon Willebrand disease, type 1 (likely)
- A;AGoodcommon/normal
SNPedia records rs61750591 on the minus strand: (-;-), (-;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
rs61750591, also known as c.4944delT, p.Ile1649Serfs and p.1648fsX45, is a SNP in the VWF gene on chromosome 12. The rarer rs61750591(-) deletion allele is considered likely to cause Von Willebrand disease, type 1, according to one publication. This SNP appears to be referred to as i5039448 by 23andMe.
-;-
see discussion at rs61750591
-;A
see discussion at rs61750591
Source and license
Adapted from rs61750591 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.