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rs199472832

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472832(C;C)
Make rs199472832(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974929
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472832
ebirs199472832
HLIrs199472832
Exacrs199472832
Varsomers199472832
Maprs199472832
PheGenIrs199472832
hapmaprs199472832
1000 genomesrs199472832
hgdprs199472832
ensemblrs199472832
gopubmedrs199472832
geneviewrs199472832
scholarrs199472832
googlers199472832
pharmgkbrs199472832
gwascentralrs199472832
openSNPrs199472832
23andMers199472832
23andMe allrs199472832
SNP Nexus

SNPshotrs199472832
SNPdbers199472832
MSV3drs199472832
GWAS Ctlgrs199472832
Max Magnitude0
ClinVar
Risk rs199472832(C;C)
Alt rs199472832(C;C)
Reference rs199472832(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.150672017A>G
CLNSRC ClinVar
CLNACC RCV000058270.2,