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rs61750117

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Von Willebrand disease, type 2A
(T;T) 3 Von Willebrand disease, type 2A
ReferenceGRCh38 38.1/141
Chromosome12
Position6018629
GeneVWF
is asnp
is mentioned by
dbSNPrs61750117
dbSNP (old)rs61750117
ClinGenrs61750117
ebirs61750117
HLIrs61750117
Exacrs61750117
Gnomadrs61750117
Varsomers61750117
Maprs61750117
PheGenIrs61750117
Biobankrs61750117
1000 genomesrs61750117
hgdprs61750117
ensemblrs61750117
gopubmedrs61750117
geneviewrs61750117
scholarrs61750117
googlers61750117
pharmgkbrs61750117
gwascentralrs61750117
openSNPrs61750117
23andMers61750117
23andMe allrs61750117
SNP Nexus

SNPshotrs61750117
SNPdbers61750117
MSV3drs61750117
GWAS Ctlgrs61750117
Max Magnitude3

rs61750117, also known as c.4789C>T, p.Arg1597Trp and R1597X, is a SNP in the VWF gene on chromosome 12.

The rare rs61750117(T) allele is considered pathogenic for Von Willebrand disease, type 2A, according to ClinVar and the VWFdb.

This SNP is referred to as i5049117 by 23andMe.

OMIM613160
Desc
Variant0002
Relatedalso


ClinVar
Risk rs61750117(G;G) Rs61750117(T;T)
Alt rs61750117(G;G) Rs61750117(T;T)
Reference Rs61750117(C;C)
Significance Pathogenic
Disease Von Willebrand disease not provided
Variation info
Gene VWF
CLNDBN von Willebrand disease, type 2a not provided
Reversed 1
HGVS NC_000012.11:g.6127795G>A; NC_000012.11:g.6127795G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000309.2, RCV000086797.1, RCV000086796.1,