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rs61749392

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 3 Von Willebrand disease, type 2B
(C;G) 3 Von Willebrand disease, type 2B
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome12
Position6019479
GeneVWF
is asnp
is mentioned by
dbSNPrs61749392
ebirs61749392
HLIrs61749392
Exacrs61749392
Varsomers61749392
Maprs61749392
PheGenIrs61749392
hapmaprs61749392
1000 genomesrs61749392
hgdprs61749392
ensemblrs61749392
gopubmedrs61749392
geneviewrs61749392
scholarrs61749392
googlers61749392
pharmgkbrs61749392
gwascentralrs61749392
openSNPrs61749392
23andMers61749392
23andMe allrs61749392
SNP Nexus

SNPshotrs61749392
SNPdbers61749392
MSV3drs61749392
GWAS Ctlgrs61749392
Max Magnitude3

rs61749392, also known as c.3939G> C, p.Trp1313Cys and W1313C, is a SNP in the VWF gene on chromosome 12.

The rare rs61749392(C) allele is considered pathogenic for Von Willebrand disease, type 2B, according to ClinVar and the VWFdb.

This SNP is also referred to as i5049327 by 23andMe.
OMIM613160
Desc
Variant0004
Relatedalso


ClinVar
Risk rs61749392(C;C)
Alt rs61749392(C;C)
Reference rs61749392(G;G)
Significance Pathogenic
Disease von Willebrand disease not provided
Variation info
Gene VWF
CLNDBN von Willebrand disease, type 2b not provided
Reversed 1
HGVS NC_000012.11:g.6128645C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000311.2, RCV000086709.1,