rs397508120, KCNQ1

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Congenital long QT syndrome
CUI: C1141890
Disease: Congenital long QT syndrome
54 0.882 0.120 11 2570734 frameshift variant G/- delins 0.700 1.000 2 2002 2009
Jervell-Lange Nielsen Syndrome
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
15 0.882 0.120 11 2570734 frameshift variant G/- delins 0.700 1.000 2 2002 2009
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.882 0.120 11 2570734 frameshift variant G/- delins 0.700 1.000 2 2002 2009