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rs61750584

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 4 Von Willebrand disease, type 2A
(C;T) 3 Von Willebrand disease, type 2A
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome12
Position6018535
GeneVWF
is asnp
is mentioned by
dbSNPrs61750584
ebirs61750584
HLIrs61750584
Exacrs61750584
Varsomers61750584
Maprs61750584
PheGenIrs61750584
hapmaprs61750584
1000 genomesrs61750584
hgdprs61750584
ensemblrs61750584
gopubmedrs61750584
geneviewrs61750584
scholarrs61750584
googlers61750584
pharmgkbrs61750584
gwascentralrs61750584
openSNPrs61750584
23andMers61750584
23andMe allrs61750584
SNP Nexus

SNPshotrs61750584
SNPdbers61750584
MSV3drs61750584
GWAS Ctlgrs61750584
Max Magnitude4

rs61750584, also known as c.4883T>C, p.Ile1628Thr and I1628T, is a SNP in the VWF gene on chromosome 12.

The rare rs61750584(C) allele is considered pathogenic for Von Willebrand disease, type 2A, according to ClinVar and the VWFdb.

This SNP is also referred to as i5049076 by 23andMe.

OMIM613160
Desc
Variant0001
Relatedalso


ClinVar
Risk rs61750584(C;C)
Alt rs61750584(C;C)
Reference rs61750584(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.6127701A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000308.2, RCV000086808.1,