rs397508118, KCNQ1

N. diseases: 4
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 0.851 0.120 11 2570720 frameshift variant GCGCT/- delins 1.4E-05 0.700 1.000 6 1999 2015
Jervell-Lange Nielsen Syndrome
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
15 0.851 0.120 11 2570720 frameshift variant GCGCT/- delins 1.4E-05 0.700 1.000 6 1999 2015
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.851 0.120 11 2570720 frameshift variant GCGCT/- delins 1.4E-05 0.700 1.000 5 1999 2015
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
240 0.851 0.120 11 2570720 frameshift variant GCGCT/- delins 1.4E-05 0.700 0