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rs199473530

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473530(C;C)
Make rs199473530(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951448
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473530
ebirs199473530
HLIrs199473530
Exacrs199473530
Varsomers199473530
Maprs199473530
PheGenIrs199473530
hapmaprs199473530
1000 genomesrs199473530
hgdprs199473530
ensemblrs199473530
gopubmedrs199473530
geneviewrs199473530
scholarrs199473530
googlers199473530
pharmgkbrs199473530
gwascentralrs199473530
openSNPrs199473530
23andMers199473530
23andMe allrs199473530
SNP Nexus

SNPshotrs199473530
SNPdbers199473530
MSV3drs199473530
GWAS Ctlgrs199473530
Max Magnitude0
ClinVar
Risk rs199473530(C;C)
Alt rs199473530(C;C)
Reference rs199473530(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.150648536A>G
CLNSRC ClinVar
CLNACC RCV000058065.2,