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rs397508126

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;TCT) 5 Romano-Ward Long QT Syndrome
(TCT;TCT) 0 common in clinvar


Make rs397508126(-;-)
ReferenceGRCh38 38.1/141
Chromosome11
Position2572889
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs397508126
dbSNP (classic)rs397508126
ClinGenrs397508126
ebirs397508126
HLIrs397508126
Exacrs397508126
Gnomadrs397508126
Varsomers397508126
LitVarrs397508126
Maprs397508126
PheGenIrs397508126
Biobankrs397508126
1000 genomesrs397508126
hgdprs397508126
ensemblrs397508126
geneviewrs397508126
scholarrs397508126
googlers397508126
pharmgkbrs397508126
gwascentralrs397508126
openSNPrs397508126
23andMers397508126
SNPshotrs397508126
SNPdbers397508126
MSV3drs397508126
GWAS Ctlgrs397508126
Max Magnitude5
ClinVar
Risk rs397508126(-;-)
Alt rs397508126(-;-)
Reference Rs397508126(TCT;TCT)
Significance Pathogenic
Disease Long QT syndrome Long QT syndrome 1
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Long QT syndrome 1
Reversed 0
HGVS NC_000011.9:g.2594119_2594121delTCT
CLNSRC ClinVar
CLNACC RCV000046138.2, RCV000239632.1,