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rs61749384

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
Position6019502
GeneVWF
is asnp
is mentioned by
dbSNPrs61749384
ebirs61749384
HLIrs61749384
Exacrs61749384
Varsomers61749384
Maprs61749384
PheGenIrs61749384
hapmaprs61749384
1000 genomesrs61749384
hgdprs61749384
ensemblrs61749384
gopubmedrs61749384
geneviewrs61749384
scholarrs61749384
googlers61749384
pharmgkbrs61749384
gwascentralrs61749384
openSNPrs61749384
23andMers61749384
23andMe allrs61749384
SNP Nexus

SNPshotrs61749384
SNPdbers61749384
MSV3drs61749384
GWAS Ctlgrs61749384
Max Magnitude3

rs61749384, also known as c.3916C>T, p.Arg1306Trp and R1306W, is a SNP in the VWF gene on chromosome 12.

The rare rs61749384(C) allele is considered pathogenic for Von Willebrand disease, type 2B, according to ClinVar and the VWFdb.

OMIM613160
Desc
Variant0005
Relatedalso


ClinVar
Risk rs61749384(T;T)
Alt rs61749384(T;T)
Reference rs61749384(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.6128668G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000312.2, RCV000086699.1,