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rs61753993

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common/normal
(A;G) 3 Von Willebrand disease, type 1 (likely)
(G;G) 3 Von Willebrand disease, type 1 (likely)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position6110484
GeneVWF
is asnp
is mentioned by
dbSNPrs61753993
ebirs61753993
HLIrs61753993
Exacrs61753993
Varsomers61753993
Maprs61753993
PheGenIrs61753993
hapmaprs61753993
1000 genomesrs61753993
hgdprs61753993
ensemblrs61753993
gopubmedrs61753993
geneviewrs61753993
scholarrs61753993
googlers61753993
pharmgkbrs61753993
gwascentralrs61753993
openSNPrs61753993
23andMers61753993
23andMe allrs61753993
SNP Nexus

SNPshotrs61753993
SNPdbers61753993
MSV3drs61753993
GWAS Ctlgrs61753993
Max Magnitude3
rs61753993, also known as c.422A>G, p.Asp141Gly and D141G, is a SNP in the VWF gene on chromosome 12.

The rarer rs61753993(G) allele is considered likely to cause Von Willebrand disease, type 1, according to one publication.[PMID 17080221]

This SNP is referred to as i5049208 by 23andMe.

ClinVar
Risk rs61753993(G;G)
Alt rs61753993(G;G)
Reference rs61753993(A;A)
Significance Untested
Disease not provided
Variation info
Gene VWF
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.6219650T>C
CLNSRC
CLNACC RCV000086746.1,