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rs397508118

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GCGCT;GCGCT) 0 common in clinvar
Make rs397508118(-;-)
Make rs397508118(-;GCGCT)
ReferenceGRCh38 38.1/141
Chromosome11
Position2570723
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs397508118
ebirs397508118
HLIrs397508118
Exacrs397508118
Varsomers397508118
Maprs397508118
PheGenIrs397508118
hapmaprs397508118
1000 genomesrs397508118
hgdprs397508118
ensemblrs397508118
gopubmedrs397508118
geneviewrs397508118
scholarrs397508118
googlers397508118
pharmgkbrs397508118
gwascentralrs397508118
openSNPrs397508118
23andMers397508118
23andMe allrs397508118
SNP Nexus

SNPshotrs397508118
SNPdbers397508118
MSV3drs397508118
GWAS Ctlgrs397508118
Max Magnitude0
ClinVar
Risk rs397508118(;)
Alt rs397508118(;)
Reference rs397508118(GCTGC;GCTGC)
Significance Pathogenic
Disease Long QT syndrome Jervell and Lange-Nielsen syndrome 1 not provided Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Jervell and Lange-Nielsen syndrome 1 not provided Long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2591953_2591957delGCGCT
CLNSRC ClinVar
CLNACC RCV000046091.3, RCV000144973.1, RCV000182268.2, RCV000233139.1,