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rs199472958

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472958(A;A)
Make rs199472958(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951505
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472958
ebirs199472958
HLIrs199472958
Exacrs199472958
Varsomers199472958
Maprs199472958
PheGenIrs199472958
hapmaprs199472958
1000 genomesrs199472958
hgdprs199472958
ensemblrs199472958
gopubmedrs199472958
geneviewrs199472958
scholarrs199472958
googlers199472958
pharmgkbrs199472958
gwascentralrs199472958
openSNPrs199472958
23andMers199472958
23andMe allrs199472958
SNP Nexus

SNPshotrs199472958
SNPdbers199472958
MSV3drs199472958
GWAS Ctlgrs199472958
Max Magnitude0
ClinVar
Risk rs199472958(A,C;A,C)
Alt rs199472958(A,C;A,C)
Reference rs199472958(G;G)
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.150648593C>G; NC_000007.13:g.150648593C>T
CLNSRC ClinVar
CLNACC RCV000058037.2, RCV000208259.1,