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rs199472881

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472881(C;C)
Make rs199472881(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150958103
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472881
dbSNP (classic)rs199472881
ClinGenrs199472881
ebirs199472881
HLIrs199472881
Exacrs199472881
Gnomadrs199472881
Varsomers199472881
LitVarrs199472881
Maprs199472881
PheGenIrs199472881
Biobankrs199472881
1000 genomesrs199472881
hgdprs199472881
ensemblrs199472881
geneviewrs199472881
scholarrs199472881
googlers199472881
pharmgkbrs199472881
gwascentralrs199472881
openSNPrs199472881
23andMers199472881
SNPshotrs199472881
SNPdbers199472881
MSV3drs199472881
GWAS Ctlgrs199472881
Max Magnitude0
ClinVar
Risk rs199472881(C;C) rs199472881(G;G)
Alt rs199472881(C;C) rs199472881(G;G)
Reference Rs199472881(T;T)
Significance Untested
Disease Long QT syndrome 2 Short QT syndrome 1 Long QT syndrome Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Long QT syndrome 2 Short QT syndrome 1 Long QT syndrome Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150655191A>C; NC_000007.13:g.150655191A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000415641.1, RCV000415675.1, RCV000463158.1, RCV000058266.3,