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rs199472970

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472970(A;A)
Make rs199472970(A;C)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951473
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472970
ebirs199472970
HLIrs199472970
Exacrs199472970
Varsomers199472970
Maprs199472970
PheGenIrs199472970
hapmaprs199472970
1000 genomesrs199472970
hgdprs199472970
ensemblrs199472970
gopubmedrs199472970
geneviewrs199472970
scholarrs199472970
googlers199472970
pharmgkbrs199472970
gwascentralrs199472970
openSNPrs199472970
23andMers199472970
23andMe allrs199472970
SNP Nexus

SNPshotrs199472970
SNPdbers199472970
MSV3drs199472970
GWAS Ctlgrs199472970
Max Magnitude0
ClinVar
Risk rs199472970(A;A)
Alt rs199472970(A;A)
Reference rs199472970(C;C)
Significance 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.150648561G>T
CLNSRC Sir Ganga Ram Hospital
CLNACC RCV000058055.2, RCV000234804.1,