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rs397508124

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CGTGGTCTT;CGTGGTCTT) 0 common in clinvar
(I;I) 0 common genotype
Make rs397508124(-;-)
Make rs397508124(-;GTGGTCTTC)
Make rs397508124(GTGGTCTTC;GTGGTCTTC)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position2572089
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs397508124
dbSNP (classic)rs397508124
ClinGenrs397508124
ebirs397508124
HLIrs397508124
Exacrs397508124
Gnomadrs397508124
Varsomers397508124
LitVarrs397508124
Maprs397508124
PheGenIrs397508124
Biobankrs397508124
1000 genomesrs397508124
hgdprs397508124
ensemblrs397508124
geneviewrs397508124
scholarrs397508124
googlers397508124
pharmgkbrs397508124
gwascentralrs397508124
openSNPrs397508124
23andMers397508124
SNPshotrs397508124
SNPdbers397508124
MSV3drs397508124
GWAS Ctlgrs397508124
Max Magnitude0
ClinVar
Risk rs397508124(-;-)
Alt rs397508124(-;-)
Reference Rs397508124(CGTGGTCTT;CGTGGTCTT)
Significance Pathogenic
Disease Long QT syndrome Cardiac arrhythmia
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Cardiac arrhythmia
Reversed 0
HGVS NC_000011.9:g.2593319_2593327delGTGGTCTTC
CLNSRC
CLNACC RCV000046120.2, RCV000182332.1,