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rs199472843

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472843(C;C)
Make rs199472843(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974858
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472843
ebirs199472843
HLIrs199472843
Exacrs199472843
Varsomers199472843
Maprs199472843
PheGenIrs199472843
hapmaprs199472843
1000 genomesrs199472843
hgdprs199472843
ensemblrs199472843
gopubmedrs199472843
geneviewrs199472843
scholarrs199472843
googlers199472843
pharmgkbrs199472843
gwascentralrs199472843
openSNPrs199472843
23andMers199472843
23andMe allrs199472843
SNP Nexus

SNPshotrs199472843
SNPdbers199472843
MSV3drs199472843
GWAS Ctlgrs199472843
Max Magnitude0
ClinVar
Risk rs199472843(C;C)
Alt rs199472843(C;C)
Reference rs199472843(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150671946A>G
CLNSRC ClinVar
CLNACC RCV000057932.2,