rs1800386
A SNP in the VWF gene on chromosome 12. Its most notable genotype is C;T: association with Von Willebrand disease type 1
- Gene
- VWF
- Location
- Chr 126,018,667 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
- Minor allele frequency
- <1%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TGoodcommon in complete genomics
- C;TMost notableBadassociation with Von Willebrand disease type 1
- C;CBadassociation with Von Willebrand disease type 1
SNPedia records rs1800386 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
- 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
rs1800386, also known as c.4751A>G, p.Tyr1584Cys and T1584C, is a SNP in the VWF gene on chromosome 12. The rarer rs1800386(G) allele is considered a "risk factor" for Von Willebrand disease, type 1, according to ClinVar and the VWFdb. This mutation is one of the most common VWF mutations in Caucasians, but it is not (fully) causative and has quite variable expressivity and penetrance. This may be due to associations with blood group type O and increased proteolysis of VWF by ADAMTS13. This SNP is referred to as i3002455 and i5049282 by 23andMe.
C;T
see discussion at rs1800386
C;C
see discussion at rs1800386
Source and license
Adapted from rs1800386 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.