rs397508087, KCNQ1

N. diseases: 2
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.
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 1.000 0.120 11 2588799 frameshift variant C/-;CC delins 0.700 1.000 3 2003 2016
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
111 1.000 0.120 11 2588799 frameshift variant C/-;CC delins 0.700 0