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rs397508101

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;CCA) 5 Romano-Ward Long QT Syndrome
(CAC;CAC) 0 common in clinvar
(I;I) 0 common genotype
Make rs397508101(-;-)
Make rs397508101(CCA;CCA)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position2847814
GeneKCNQ1, KCNQ1-AS1
is asnp
is mentioned by
dbSNPrs397508101
dbSNP (classic)rs397508101
ClinGenrs397508101
ebirs397508101
HLIrs397508101
Exacrs397508101
Gnomadrs397508101
Varsomers397508101
LitVarrs397508101
Maprs397508101
PheGenIrs397508101
Biobankrs397508101
1000 genomesrs397508101
hgdprs397508101
ensemblrs397508101
geneviewrs397508101
scholarrs397508101
googlers397508101
pharmgkbrs397508101
gwascentralrs397508101
openSNPrs397508101
23andMers397508101
SNPshotrs397508101
SNPdbers397508101
MSV3drs397508101
GWAS Ctlgrs397508101
Max Magnitude5
ClinVar
Risk rs397508101(-;-)
Alt rs397508101(-;-)
Reference Rs397508101(CAC;CAC)
Significance Pathogenic
Disease Long QT syndrome Cardiac arrhythmia
Variation info
Gene KCNQ1-AS1 KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Cardiac arrhythmia
Reversed 0
HGVS NC_000011.9:g.2869044_2869046delCCA
CLNSRC
CLNACC RCV000046033.2, RCV000182286.1,