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rs199473503

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473503(C;T)
Make rs199473503(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150958170
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473503
ebirs199473503
HLIrs199473503
Exacrs199473503
Varsomers199473503
Maprs199473503
PheGenIrs199473503
hapmaprs199473503
1000 genomesrs199473503
hgdprs199473503
ensemblrs199473503
gopubmedrs199473503
geneviewrs199473503
scholarrs199473503
googlers199473503
pharmgkbrs199473503
gwascentralrs199473503
openSNPrs199473503
23andMers199473503
23andMe allrs199473503
SNP Nexus

SNPshotrs199473503
SNPdbers199473503
MSV3drs199473503
GWAS Ctlgrs199473503
Max Magnitude0
ClinVar
Risk rs199473503(T;T)
Alt rs199473503(T;T)
Reference rs199473503(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150655258G>A
CLNSRC ClinVar
CLNACC RCV000058258.2,