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rs61754010

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 Von Willebrand disease, type 2A
(G;G) 3 Von Willebrand disease, type 2A
ReferenceGRCh38 38.1/141
Chromosome12
Position6057995
GeneVWF
is asnp
is mentioned by
dbSNPrs61754010
ebirs61754010
HLIrs61754010
Exacrs61754010
Varsomers61754010
Maprs61754010
PheGenIrs61754010
hapmaprs61754010
1000 genomesrs61754010
hgdprs61754010
ensemblrs61754010
gopubmedrs61754010
geneviewrs61754010
scholarrs61754010
googlers61754010
pharmgkbrs61754010
gwascentralrs61754010
openSNPrs61754010
23andMers61754010
23andMe allrs61754010
SNP Nexus

SNPshotrs61754010
SNPdbers61754010
MSV3drs61754010
GWAS Ctlgrs61754010
Max Magnitude3

rs61754010, also known as c.1583A>G, p.Asn528Ser and N528S, is a SNP in the VWF gene on chromosome 12.

The rare rs61754010(G) allele is considered pathogenic for Von Willebrand disease, type 2A, according to ClinVar and the VWFdb.


ClinVar
Risk rs61754010(G;G)
Alt rs61754010(G;G)
Reference rs61754010(A;A)
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.6167161T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000346.3, RCV000086569.1,