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rs199472997

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472997(A;A)
Make rs199472997(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150950204
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472997
ebirs199472997
HLIrs199472997
Exacrs199472997
Varsomers199472997
Maprs199472997
PheGenIrs199472997
hapmaprs199472997
1000 genomesrs199472997
hgdprs199472997
ensemblrs199472997
gopubmedrs199472997
geneviewrs199472997
scholarrs199472997
googlers199472997
pharmgkbrs199472997
gwascentralrs199472997
openSNPrs199472997
23andMers199472997
23andMe allrs199472997
SNP Nexus

SNPshotrs199472997
SNPdbers199472997
MSV3drs199472997
GWAS Ctlgrs199472997
Max Magnitude0
ClinVar
Risk rs199472997(A;A)
Alt rs199472997(A;A)
Reference rs199472997(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome Long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150647292C>T
CLNSRC ClinVar
CLNACC RCV000058111.2, RCV000230704.1,