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rs61750595

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 likely miscall in Ancestry V2.0 datasets; otherwise, carrier of a Von Willebrand disease allele
(T;T) 4 likely miscall in Ancestry V2.0 datasets; otherwise, Von Willebrand disease, type 3
ReferenceGRCh38 38.1/141
Chromosome12
Position6018443
GeneVWF
is asnp
is mentioned by
dbSNPrs61750595
ebirs61750595
HLIrs61750595
Exacrs61750595
Varsomers61750595
Maprs61750595
PheGenIrs61750595
hapmaprs61750595
1000 genomesrs61750595
hgdprs61750595
ensemblrs61750595
gopubmedrs61750595
geneviewrs61750595
scholarrs61750595
googlers61750595
pharmgkbrs61750595
gwascentralrs61750595
openSNPrs61750595
23andMers61750595
23andMe allrs61750595
SNP Nexus

SNPshotrs61750595
SNPdbers61750595
MSV3drs61750595
GWAS Ctlgrs61750595
Max Magnitude4

rs61750595, also known as c.4975C>T, p.Arg1659Ter and R1659X, is a SNP in the VWF gene on chromosome 12.

The rare rs61750595(T) allele is considered pathogenic for Von Willebrand disease, type 3, according to ClinVar and the VWFdb.

This SNP is referred to as i5049104 by 23andMe.

Note: As of June 2016, we have noticed that the AncestryDNA V2.0 datasets are prone to miscalls for this SNP.

OMIM613160
Desc
Variant0015
Relatedalso


ClinVar
Risk rs61750595(T;T)
Alt rs61750595(T;T)
Reference rs61750595(C;C)
Significance Pathogenic
Disease von Willebrand disease type 3 von Willebrand disease type 1 not provided
Variation info
Gene VWF
CLNDBN von Willebrand disease type 3 von Willebrand disease type 1 not provided
Reversed 1
HGVS NC_000012.11:g.6127609G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000322.4, RCV000000323.4, RCV000086820.1,