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rs61750579

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 3 Von Willebrand disease, type 2A
(A;T) 3 Von Willebrand disease, type 2A
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome12
Position6018598
GeneVWF
is asnp
is mentioned by
dbSNPrs61750579
ebirs61750579
HLIrs61750579
Exacrs61750579
Varsomers61750579
Maprs61750579
PheGenIrs61750579
hapmaprs61750579
1000 genomesrs61750579
hgdprs61750579
ensemblrs61750579
gopubmedrs61750579
geneviewrs61750579
scholarrs61750579
googlers61750579
pharmgkbrs61750579
gwascentralrs61750579
openSNPrs61750579
23andMers61750579
23andMe allrs61750579
SNP Nexus

SNPshotrs61750579
SNPdbers61750579
MSV3drs61750579
GWAS Ctlgrs61750579
Max Magnitude3

rs61750579, also known as c.4820T>A, p.Val1607Asp and V1607D, is a SNP in the VWF gene on chromosome 12.

The rare rs61750579(A) allele is considered pathogenic for Von Willebrand disease, type 2A, according to ClinVar and the VWFdb.

This SNP is referred to as i5049266 by 23andMe.

OMIM613160
Desc
Variant0003
Relatedalso
ClinVar
Risk rs61750579(A;A)
Alt rs61750579(A;A)
Reference rs61750579(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.6127764A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000310.2, RCV000086803.1,