rs61748497
A SNP in the VWF gene on chromosome 12. Its most notable genotype is G;G: Von Willebrand disease, type 2N
- Gene
- VWF
- Location
- Chr 126,025,624 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GMost notableBadVon Willebrand disease, type 2N
- A;GBadcarrier of a Von Willebrand disease allele
- A;AGoodcommon in clinvar
SNPedia records rs61748497 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
- 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
- rs61751296A;AVon Willebrand disease, type 3Very important
Notes
From SNPedia
Notes
rs61748497, also known as c.3178T>C, p.Cys1060Arg and C1060R, is a SNP in the VWF gene on chromosome 12. The rare rs61748497(C) allele is considered pathogenic for Von Willebrand disease, type 2N, according to ClinVar and the VWFdb.
G;G
see discussion at rs61748497
A;G
see discussion at rs61748497
Source and license
Adapted from rs61748497 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.