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rs199472838

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472838(C;G)
Make rs199472838(G;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974886
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472838
ebirs199472838
HLIrs199472838
Exacrs199472838
Varsomers199472838
Maprs199472838
PheGenIrs199472838
hapmaprs199472838
1000 genomesrs199472838
hgdprs199472838
ensemblrs199472838
gopubmedrs199472838
geneviewrs199472838
scholarrs199472838
googlers199472838
pharmgkbrs199472838
gwascentralrs199472838
openSNPrs199472838
23andMers199472838
23andMe allrs199472838
SNP Nexus

SNPshotrs199472838
SNPdbers199472838
MSV3drs199472838
GWAS Ctlgrs199472838
Max Magnitude0
ClinVar
Risk rs199472838(G;G)
Alt rs199472838(G;G)
Reference rs199472838(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150671974G>C
CLNSRC ClinVar
CLNACC RCV000057894.2,