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rs199472918

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472918(C;C)
Make rs199472918(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951738
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472918
ebirs199472918
HLIrs199472918
Exacrs199472918
Varsomers199472918
Maprs199472918
PheGenIrs199472918
hapmaprs199472918
1000 genomesrs199472918
hgdprs199472918
ensemblrs199472918
gopubmedrs199472918
geneviewrs199472918
scholarrs199472918
googlers199472918
pharmgkbrs199472918
gwascentralrs199472918
openSNPrs199472918
23andMers199472918
23andMe allrs199472918
SNP Nexus

SNPshotrs199472918
SNPdbers199472918
MSV3drs199472918
GWAS Ctlgrs199472918
Max Magnitude0
ClinVar
Risk rs199472918(C;C)
Alt rs199472918(C;C)
Reference rs199472918(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome Cardiac arrhythmia Long QT syndrome 2 not provided
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome Cardiac arrhythmia Long QT syndrome 2 not provided
Reversed 1
HGVS NC_000007.13:g.150648826A>G
CLNSRC ClinVar
CLNACC RCV000057934.2, RCV000181803.1, RCV000208055.1, RCV000223726.1,