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rs61751310

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 3 Von Willebrand disease, type 2A
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome12
Position5949140
GeneVWF
is asnp
is mentioned by
dbSNPrs61751310
ebirs61751310
HLIrs61751310
Exacrs61751310
Varsomers61751310
Maprs61751310
PheGenIrs61751310
hapmaprs61751310
1000 genomesrs61751310
hgdprs61751310
ensemblrs61751310
gopubmedrs61751310
geneviewrs61751310
scholarrs61751310
googlers61751310
pharmgkbrs61751310
gwascentralrs61751310
openSNPrs61751310
23andMers61751310
23andMe allrs61751310
SNP Nexus

SNPshotrs61751310
SNPdbers61751310
MSV3drs61751310
GWAS Ctlgrs61751310
Max Magnitude3

rs61751310, also known as c.8317T>C, p.Cys2773Arg, and C2010R, is a SNP in the VWF gene on chromosome 12.

The rare rs61751310(C) allele is considered pathogenic for Von Willebrand disease, type 2A, according to ClinVar and the VWFdb.

OMIM613160
Desc
Variant0024
Relatedalso


ClinVar
Risk rs61751310(C;C)
Alt rs61751310(C;C)
Reference rs61751310(T;T)
Significance Pathogenic
Disease von Willebrand disease not provided
Variation info
Gene VWF
CLNDBN von Willebrand disease, type 2a not provided
Reversed 1
HGVS NC_000012.11:g.6058306A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000333.3, RCV000086917.1,