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rs199472902

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Romano-Ward Long QT Syndrome
Make rs199472902(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150952630
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472902
dbSNP (classic)rs199472902
ClinGenrs199472902
ebirs199472902
HLIrs199472902
Exacrs199472902
Gnomadrs199472902
Varsomers199472902
LitVarrs199472902
Maprs199472902
PheGenIrs199472902
Biobankrs199472902
1000 genomesrs199472902
hgdprs199472902
ensemblrs199472902
geneviewrs199472902
scholarrs199472902
googlers199472902
pharmgkbrs199472902
gwascentralrs199472902
openSNPrs199472902
23andMers199472902
SNPshotrs199472902
SNPdbers199472902
MSV3drs199472902
GWAS Ctlgrs199472902
Max Magnitude5
ClinVar
Risk rs199472902(T;T)
Alt rs199472902(T;T)
Reference Rs199472902(C;C)
Significance Probable-Pathogenic
Disease Congenital long QT syndrome Long QT syndrome 2
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome Long QT syndrome 2
Reversed 1
HGVS NC_000007.13:g.150649718G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000057897.3, RCV000208345.1,