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rs61750581

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 3 Von Willibrand disease, type 2A
(C;T) 3 Von Willebrand disease, type 2A
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome12
Position6018581
GeneVWF
is asnp
is mentioned by
dbSNPrs61750581
ebirs61750581
HLIrs61750581
Exacrs61750581
Varsomers61750581
Maprs61750581
PheGenIrs61750581
hapmaprs61750581
1000 genomesrs61750581
hgdprs61750581
ensemblrs61750581
gopubmedrs61750581
geneviewrs61750581
scholarrs61750581
googlers61750581
pharmgkbrs61750581
gwascentralrs61750581
openSNPrs61750581
23andMers61750581
23andMe allrs61750581
SNP Nexus

SNPshotrs61750581
SNPdbers61750581
MSV3drs61750581
GWAS Ctlgrs61750581
Max Magnitude3

rs61750581, also known as c.4837T>C, p.Ser1613Pro and S1613P, is a SNP in the VWF gene on chromosome 12.

The rare rs61750581(C) allele is considered pathogenic for Von Willebrand disease, type 2A, according to ClinVar and the VWFdb.

This SNP is also referred to as i5049172 by 23andMe.

OMIM613160
Desc
Variant0009
Relatedalso


ClinVar
Risk rs61750581(C;C)
Alt rs61750581(C;C)
Reference rs61750581(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.6127747A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000316.2, RCV000086805.1,