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rs199472988

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472988(C;T)
Make rs199472988(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150950362
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472988
ebirs199472988
HLIrs199472988
Exacrs199472988
Varsomers199472988
Maprs199472988
PheGenIrs199472988
hapmaprs199472988
1000 genomesrs199472988
hgdprs199472988
ensemblrs199472988
gopubmedrs199472988
geneviewrs199472988
scholarrs199472988
googlers199472988
pharmgkbrs199472988
gwascentralrs199472988
openSNPrs199472988
23andMers199472988
23andMe allrs199472988
SNP Nexus

SNPshotrs199472988
SNPdbers199472988
MSV3drs199472988
GWAS Ctlgrs199472988
Max Magnitude0
ClinVar
Risk rs199472988(T;T)
Alt rs199472988(T;T)
Reference rs199472988(C;C)
Significance Probable-Pathogenic
Disease Congenital long QT syndrome Cardiac arrhythmia Long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome Cardiac arrhythmia Long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150647450G>A
CLNSRC ClinVar
CLNACC RCV000058094.2, RCV000181842.1, RCV000196406.1,