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rs61750612

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(T;T) 4 Von Willebrand disease, type 3
ReferenceGRCh38 38.1/141
Chromosome12
Position6013544
GeneVWF
is asnp
is mentioned by
dbSNPrs61750612
ebirs61750612
HLIrs61750612
Exacrs61750612
Varsomers61750612
Maprs61750612
PheGenIrs61750612
hapmaprs61750612
1000 genomesrs61750612
hgdprs61750612
ensemblrs61750612
gopubmedrs61750612
geneviewrs61750612
scholarrs61750612
googlers61750612
pharmgkbrs61750612
gwascentralrs61750612
openSNPrs61750612
23andMers61750612
23andMe allrs61750612
SNP Nexus

SNPshotrs61750612
SNPdbers61750612
MSV3drs61750612
GWAS Ctlgrs61750612
Max Magnitude4

rs61750612, also known as c.5557C>T, p.Arg1853Ter, R1852X and R1853X, is a SNP in the VWF gene on chromosome 12.

The rare rs61750612(T) allele is considered pathogenic for Von Willebrand disease, type 3, according to ClinVar and the VWFdb, at least when homozygous or compound heterozygous. It is possible that on it's own this allele leads to Type 1 Von Willebrand disease.

This SNP is also referred to as i5049228 by 23andMe.

OMIM613160
Desc
Variant0016
Relatedalso


ClinVar
Risk rs61750612(T;T)
Alt rs61750612(T;T)
Reference rs61750612(C;C)
Significance Pathogenic
Disease von Willebrand disease type 3 von Willebrand disease type 1 not provided
Variation info
Gene VWF
CLNDBN von Willebrand disease type 3 von Willebrand disease type 1 not provided
Reversed 1
HGVS NC_000012.11:g.6122710G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000324.3, RCV000000325.3, RCV000086843.1,