Have questions? Visit https://www.reddit.com/r/SNPedia

rs61751296

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of a Von Willebrand disease allele
(T;T) 4 Von Willebrand disease, type 3
ReferenceGRCh38 38.1/141
Chromosome12
Position5969337
GeneVWF
is asnp
is mentioned by
dbSNPrs61751296
ebirs61751296
HLIrs61751296
Exacrs61751296
Varsomers61751296
Maprs61751296
PheGenIrs61751296
hapmaprs61751296
1000 genomesrs61751296
hgdprs61751296
ensemblrs61751296
gopubmedrs61751296
geneviewrs61751296
scholarrs61751296
googlers61751296
pharmgkbrs61751296
gwascentralrs61751296
openSNPrs61751296
23andMers61751296
23andMe allrs61751296
SNP Nexus

SNPshotrs61751296
SNPdbers61751296
MSV3drs61751296
GWAS Ctlgrs61751296
Max Magnitude4

rs61751296, also known as c.7603C>T, p.Arg2535Ter and R2535X is a SNP in the VWF gene on chromosome 12.

The rare rs61751296(T) allele is considered pathogenic for Von Willebrand disease, type 3, according to ClinVar and the VWFdb.

OMIM613160
Desc
Variant0017
Relatedalso


ClinVar
Risk rs61751296(T;T)
Alt rs61751296(T;T)
Reference rs61751296(C;C)
Significance Pathogenic
Disease von Willebrand disease type 3 not provided
Variation info
Gene VWF
CLNDBN von Willebrand disease type 3 not provided
Reversed 1
HGVS NC_000012.11:g.6078503G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000326.2, RCV000086892.1,