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rs397508127

From SNPedia

ClinVar
Risk rs397508127(;)
Alt rs397508127(;)
Reference rs397508127(CTC;CTC)
Significance Pathogenic
Disease Long QT syndrome Jervell and Lange-Nielsen syndrome 1 not provided Long QT syndrome 1
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Jervell and Lange-Nielsen syndrome 1 not provided Long QT syndrome 1
Reversed 0
HGVS NC_000011.9:g.2594123_2594125delCTC
CLNSRC
CLNACC RCV000046139.2, RCV000046140.2, RCV000182333.2, RCV000239635.1,