rs61749387
A SNP in the VWF gene on chromosome 12. Its most notable genotype is A;G: Von Willebrand disease, type 2B
- Gene
- VWF
- Location
- Chr 126,019,496 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- A;GMost notableBadVon Willebrand disease, type 2B
- A;ABadVon Willebrand disease, type 2B
SNPedia records rs61749387 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
- rs61750612A;AVon Willebrand disease, type 3Very important
- rs61750630A;AVon Willebrand disease, type 3Very important
Notes
From SNPedia
Notes
rs61749387, also known as c.3922C>T, p.Arg1308Cys and R1308C, is a SNP in the VWF gene on chromosome 12. The rare rs61749387(T) allele is considered pathogenic for Von Willebrand disease, type 2B, according to ClinVar and the VWFdb.
A;G
see discussion at rs61749387
A;A
see discussion at rs61749387
Source and license
Adapted from rs61749387 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.