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rs61749372

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 3 Von Willebrand disease, type 2A
(C;T) 3 Von Willebrand disease, type 2A
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome12
Position6019604
GeneVWF
is asnp
is mentioned by
dbSNPrs61749372
ebirs61749372
HLIrs61749372
Exacrs61749372
Varsomers61749372
Maprs61749372
PheGenIrs61749372
hapmaprs61749372
1000 genomesrs61749372
hgdprs61749372
ensemblrs61749372
gopubmedrs61749372
geneviewrs61749372
scholarrs61749372
googlers61749372
pharmgkbrs61749372
gwascentralrs61749372
openSNPrs61749372
23andMers61749372
23andMe allrs61749372
SNP Nexus

SNPshotrs61749372
SNPdbers61749372
MSV3drs61749372
GWAS Ctlgrs61749372
Max Magnitude3

rs61749372, also known as c.3814T>C, p.Cys1272Arg and C1272R, is a SNP in the VWF gene on chromosome 12.

The rare rs61749372(C) allele is considered pathogenic for Von Willebrand disease, type 2A, according to ClinVar and the VWFdb.

This SNP is also referred to as i5049192 by 23andMe.
OMIM613160
Desc
Variant0019
Relatedalso


ClinVar
Risk rs61749372(C,G;C,G)
Alt rs61749372(C,G;C,G)
Reference rs61749372(T;T)
Significance Pathogenic
Disease not provided von Willebrand disease
Variation info
Gene VWF
CLNDBN not provided von Willebrand disease, type 2a
Reversed 1
HGVS NC_000012.11:g.6128770A>C; NC_000012.11:g.6128770A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000086680.1, RCV000000328.2, RCV000086679.1,