rs61750595

A SNP in the VWF gene on chromosome 12. Its most notable genotype is A;A: likely miscall in Ancestry V2.0 datasets; otherwise, Von Willebrand disease, type 3

Gene
VWF
Location
Chr 126,018,443 (GRCh38)
Highest magnitude
4.0Very important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. A;GBadlikely miscall in Ancestry V2.0 datasets; otherwise, carrier of a Von Willebrand disease alleleImportant · 3.0
  3. A;AMost notableBadlikely miscall in Ancestry V2.0 datasets; otherwise, Von Willebrand disease, type 3Very important · 4.0

SNPedia records rs61750595 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.

Conditions, medicines and genes

Other VWF SNPs

All VWF SNPs

Notes

From SNPedia

Notes

rs61750595, also known as c.4975C>T, p.Arg1659Ter and R1659X, is a SNP in the VWF gene on chromosome 12. The rare rs61750595(T) allele is considered pathogenic for Von Willebrand disease, type 3, according to ClinVar and the VWFdb. This SNP is referred to as i5049104 by 23andMe. Note: As of June 2016, we have noticed that the AncestryDNA V2.0 datasets are prone to miscalls for this SNP.

A;G

see discussion at rs61750595

A;A

see discussion at rs61750595

Source and license

Adapted from rs61750595 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.