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rs199472947

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472947(C;G)
Make rs199472947(G;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951540
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472947
ebirs199472947
HLIrs199472947
Exacrs199472947
Varsomers199472947
Maprs199472947
PheGenIrs199472947
hapmaprs199472947
1000 genomesrs199472947
hgdprs199472947
ensemblrs199472947
gopubmedrs199472947
geneviewrs199472947
scholarrs199472947
googlers199472947
pharmgkbrs199472947
gwascentralrs199472947
openSNPrs199472947
23andMers199472947
23andMe allrs199472947
SNP Nexus

SNPshotrs199472947
SNPdbers199472947
MSV3drs199472947
GWAS Ctlgrs199472947
Max Magnitude0
ClinVar
Risk rs199472947(G,T;G,T)
Alt rs199472947(G,T;G,T)
Reference rs199472947(C;C)
Significance Pathogenic
Disease short QT syndrome Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN short QT syndrome Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648628G>A; NC_000007.13:g.150648628G>C
CLNSRC ClinVar
CLNACC RCV000058015.2, RCV000058014.2,