rs61748478
A SNP in the VWF gene on chromosome 12. Its most notable genotype is C;C: Von Willebrand disease, type 2N
- Gene
- VWF
- Location
- Chr 126,044,349 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- 23andMe
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TGoodcommon in clinvar
- C;TBadcarrier of a Von Willebrand disease allele
- C;CMost notableBadVon Willebrand disease, type 2N
SNPedia records rs61748478 on the minus strand: (A;A), (A;G), (G;G). 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
- 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
- rs61751296A;AVon Willebrand disease, type 3Very important
Notes
From SNPedia
Notes
rs61748478, also known as c.2384A>G, p.Tyr795Cys and Y795C, is a SNP in the VWF gene on chromosome 12. The rare rs61748478(G) allele is considered pathogenic for Von Willebrand disease, type 2N, according to ClinVar and the VWFdb. This SNP is also referred to as i5049289 by 23andMe.
C;T
see discussion at rs61748478
C;C
see discussion at rs61748478
Source and license
Adapted from rs61748478 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.