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rs199472917

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472917(C;T)
Make rs199472917(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951784
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472917
ebirs199472917
HLIrs199472917
Exacrs199472917
Varsomers199472917
Maprs199472917
PheGenIrs199472917
hapmaprs199472917
1000 genomesrs199472917
hgdprs199472917
ensemblrs199472917
gopubmedrs199472917
geneviewrs199472917
scholarrs199472917
googlers199472917
pharmgkbrs199472917
gwascentralrs199472917
openSNPrs199472917
23andMers199472917
23andMe allrs199472917
SNP Nexus

SNPshotrs199472917
SNPdbers199472917
MSV3drs199472917
GWAS Ctlgrs199472917
Max Magnitude0
ClinVar
Risk rs199472917(T;T)
Alt rs199472917(T;T)
Reference rs199472917(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome not provided
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome not provided
Reversed 1
HGVS NC_000007.13:g.150648872G>A
CLNSRC ClinVar
CLNACC RCV000057931.2, RCV000181801.1,