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rs1800386

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
(A;G) 3 association with Von Willebrand disease type 1
(G;G) 3 association with Von Willebrand disease type 1
ReferenceGRCh38 38.1/141
Chromosome12
Position6018667
GeneVWF
is asnp
is mentioned by
dbSNPrs1800386
ebirs1800386
HLIrs1800386
Exacrs1800386
Varsomers1800386
Maprs1800386
PheGenIrs1800386
hapmaprs1800386
1000 genomesrs1800386
hgdprs1800386
ensemblrs1800386
gopubmedrs1800386
geneviewrs1800386
scholarrs1800386
googlers1800386
pharmgkbrs1800386
gwascentralrs1800386
openSNPrs1800386
23andMers1800386
23andMe allrs1800386
SNP Nexus

SNPshotrs1800386
SNPdbers1800386
MSV3drs1800386
GWAS Ctlgrs1800386
GMAF0.001837
Max Magnitude3

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.

OMIM613160
Desc
Variant0029
Relatedalso
ClinVar
Risk rs1800386(G;G)
Alt rs1800386(G;G)
Reference rs1800386(A;A)
Significance Other
Disease von Willebrand disease not provided
Variation info
Gene VWF
CLNDBN von Willebrand disease, type 1, susceptibility to not provided
Reversed 1
HGVS NC_000012.11:g.6127833T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000338.3, RCV000086795.1,


GET Evidence
VWF-Y1584C
aa_change Tyr1584Cys
aa_change_short Y1584C
impact pathogenic
qualified_impact Moderate clinical importance, Likely pathogenic
overall_frequency 0.00232385
summary This variant is associated with causing Type 1 von Willebrand disease in a dominant fashion. This hereditary defect in coagulation makes individuals more susceptible to bleeding. Not all carriers of the variant have the disease (incomplete penetrance); type O blood may also be a risk factor. A vWF antigen assay can confirm presence of the disease. Individuals are not usually treated with medication, but prophylactic measures are recommended before surgery and behavioral modification to avoid activities with a high risk of trauma (particularly head trauma) is recommended.