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rs61749387

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Von Willebrand disease, type 2B
(T;T) 3 Von Willebrand disease, type 2B
ReferenceGRCh38 38.1/141
Chromosome12
Position6019496
GeneVWF
is asnp
is mentioned by
dbSNPrs61749387
ebirs61749387
HLIrs61749387
Exacrs61749387
Varsomers61749387
Maprs61749387
PheGenIrs61749387
hapmaprs61749387
1000 genomesrs61749387
hgdprs61749387
ensemblrs61749387
gopubmedrs61749387
geneviewrs61749387
scholarrs61749387
googlers61749387
pharmgkbrs61749387
gwascentralrs61749387
openSNPrs61749387
23andMers61749387
23andMe allrs61749387
SNP Nexus

SNPshotrs61749387
SNPdbers61749387
MSV3drs61749387
GWAS Ctlgrs61749387
Max Magnitude3

rs61749387, also known as c.3922C>T, p.Arg1308Cys and R1308C, is a SNP in the VWF gene on chromosome 12.

The rare rs61749387(T) allele is considered pathogenic for Von Willebrand disease, type 2B, according to ClinVar and the VWFdb.

OMIM613160
Desc
Variant0006
Relatedalso


ClinVar
Risk rs61749387(T;T)
Alt rs61749387(T;T)
Reference rs61749387(C;C)
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.6128662G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000313.2, RCV000086703.1,