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rs199473489

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473489(G;T)
Make rs199473489(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974887
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473489
ebirs199473489
HLIrs199473489
Exacrs199473489
Varsomers199473489
Maprs199473489
PheGenIrs199473489
hapmaprs199473489
1000 genomesrs199473489
hgdprs199473489
ensemblrs199473489
gopubmedrs199473489
geneviewrs199473489
scholarrs199473489
googlers199473489
pharmgkbrs199473489
gwascentralrs199473489
openSNPrs199473489
23andMers199473489
23andMe allrs199473489
SNP Nexus

SNPshotrs199473489
SNPdbers199473489
MSV3drs199473489
GWAS Ctlgrs199473489
Max Magnitude0
ClinVar
Risk rs199473489(T;T)
Alt rs199473489(T;T)
Reference rs199473489(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150671975C>A
CLNSRC ClinVar
CLNACC RCV000057893.2,