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rs199473495

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473495(C;C)
Make rs199473495(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974758
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473495
ebirs199473495
HLIrs199473495
Exacrs199473495
Varsomers199473495
Maprs199473495
PheGenIrs199473495
hapmaprs199473495
1000 genomesrs199473495
hgdprs199473495
ensemblrs199473495
gopubmedrs199473495
geneviewrs199473495
scholarrs199473495
googlers199473495
pharmgkbrs199473495
gwascentralrs199473495
openSNPrs199473495
23andMers199473495
23andMe allrs199473495
SNP Nexus

SNPshotrs199473495
SNPdbers199473495
MSV3drs199473495
GWAS Ctlgrs199473495
Max Magnitude0
ClinVar
Risk rs199473495(C;C)
Alt rs199473495(C;C)
Reference rs199473495(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.150671846A>G
CLNSRC ClinVar
CLNACC RCV000058143.2,