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rs199472962

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472962(C;T)
Make rs199472962(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951492
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472962
ebirs199472962
HLIrs199472962
Exacrs199472962
Varsomers199472962
Maprs199472962
PheGenIrs199472962
hapmaprs199472962
1000 genomesrs199472962
hgdprs199472962
ensemblrs199472962
gopubmedrs199472962
geneviewrs199472962
scholarrs199472962
googlers199472962
pharmgkbrs199472962
gwascentralrs199472962
openSNPrs199472962
23andMers199472962
23andMe allrs199472962
SNP Nexus

SNPshotrs199472962
SNPdbers199472962
MSV3drs199472962
GWAS Ctlgrs199472962
Max Magnitude0
ClinVar
Risk rs199472962(T;T)
Alt rs199472962(T;T)
Reference rs199472962(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648580G>A
CLNSRC ClinVar
CLNACC RCV000058044.2,