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rs61749393

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
Position6019478
GeneVWF
is asnp
is mentioned by
dbSNPrs61749393
ebirs61749393
HLIrs61749393
Exacrs61749393
Varsomers61749393
Maprs61749393
PheGenIrs61749393
hapmaprs61749393
1000 genomesrs61749393
hgdprs61749393
ensemblrs61749393
gopubmedrs61749393
geneviewrs61749393
scholarrs61749393
googlers61749393
pharmgkbrs61749393
gwascentralrs61749393
openSNPrs61749393
23andMers61749393
23andMe allrs61749393
SNP Nexus

SNPshotrs61749393
SNPdbers61749393
MSV3drs61749393
GWAS Ctlgrs61749393
Max Magnitude3

rs61749393, also known as c.3940G>C, p.Val1314Leu and V1314L, is a SNP in the VWF gene on chromosome 12.

The rare rs61749393(C) allele is considered pathogenic for Von Willebrand disease, type 2B, according to ClinVar and the VWFdb.

This SNP is also referred to as i5049258 by 23andMe.

OMIM613160
Desc
Variant0020
Relatedalso


ClinVar
Risk rs61749393(C,T;C,T)
Alt rs61749393(C,T;C,T)
Reference rs61749393(G;G)
Significance Pathogenic
Disease not provided von Willebrand disease
Variation info
Gene VWF
CLNDBN not provided von Willebrand disease, type 2b
Reversed 1
HGVS NC_000012.11:g.6128644C>A; NC_000012.11:g.6128644C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000086710.1, RCV000000329.2, RCV000087017.1,