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rs397508115

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397508115(C;GG)
Make rs397508115(GG;GG)
ReferenceGRCh38 38.1/141
Chromosome11
Position2570683
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs397508115
ebirs397508115
HLIrs397508115
Exacrs397508115
Varsomers397508115
Maprs397508115
PheGenIrs397508115
hapmaprs397508115
1000 genomesrs397508115
hgdprs397508115
ensemblrs397508115
gopubmedrs397508115
geneviewrs397508115
scholarrs397508115
googlers397508115
pharmgkbrs397508115
gwascentralrs397508115
openSNPrs397508115
23andMers397508115
23andMe allrs397508115
SNP Nexus

SNPshotrs397508115
SNPdbers397508115
MSV3drs397508115
GWAS Ctlgrs397508115
Max Magnitude0
ClinVar
Risk rs397508115(GG;GG)
Alt rs397508115(GG;GG)
Reference rs397508115(C;C)
Significance Pathogenic
Disease Long QT syndrome 1 Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome 1 Long QT syndrome, LQT1 subtype
Reversed 0
HGVS NC_000011.9:g.2591913delCinsGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000003297.2, RCV000046077.2,