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rs61754011

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 3 Von Willebrand disease, type 2A
(A;G) 3 Von Willebrand disease, type 2A
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome12
Position6057930
GeneVWF
is asnp
is mentioned by
dbSNPrs61754011
ebirs61754011
HLIrs61754011
Exacrs61754011
Varsomers61754011
Maprs61754011
PheGenIrs61754011
hapmaprs61754011
1000 genomesrs61754011
hgdprs61754011
ensemblrs61754011
gopubmedrs61754011
geneviewrs61754011
scholarrs61754011
googlers61754011
pharmgkbrs61754011
gwascentralrs61754011
openSNPrs61754011
23andMers61754011
23andMe allrs61754011
SNP Nexus

SNPshotrs61754011
SNPdbers61754011
MSV3drs61754011
GWAS Ctlgrs61754011
Max Magnitude3

rs61754011, also known as c.1648G>A, p.Gly550Arg and G550R, is a SNP in the VWF gene on chromosome 12.

The rare rs61754011(A) allele is considered pathogenic for Von Willebrand disease, type 2A, according to ClinVar and the VWFdb.

This SNP is also referred to as i5049159 by 23andMe.

OMIM613160
Desc
Variant0023
Relatedalso


ClinVar
Risk rs61754011(A;A)
Alt rs61754011(A;A)
Reference rs61754011(G;G)
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.6167096C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000332.2, RCV000086570.1,