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rs199473523

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473523(C;C)
Make rs199473523(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951577
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473523
ebirs199473523
HLIrs199473523
Exacrs199473523
Varsomers199473523
Maprs199473523
PheGenIrs199473523
hapmaprs199473523
1000 genomesrs199473523
hgdprs199473523
ensemblrs199473523
gopubmedrs199473523
geneviewrs199473523
scholarrs199473523
googlers199473523
pharmgkbrs199473523
gwascentralrs199473523
openSNPrs199473523
23andMers199473523
23andMe allrs199473523
SNP Nexus

SNPshotrs199473523
SNPdbers199473523
MSV3drs199473523
GWAS Ctlgrs199473523
Max Magnitude0
ClinVar
Risk rs199473523(C;C)
Alt rs199473523(C;C)
Reference rs199473523(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.150648665A>G
CLNSRC ClinVar
CLNACC RCV000058001.2,