rs120074187, 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.
Long QT Syndrome 1
CUI: C4551647
Disease: Long QT Syndrome 1
240 0.882 0.120 11 2572963 missense variant G/A snv 4.8E-05 2.1E-05 0.800 1.000 24 1996 2017
Ventricular arrhythmia
CUI: C0085612
Disease: Ventricular arrhythmia
37 0.882 0.120 11 2572963 missense variant G/A snv 4.8E-05 2.1E-05 0.700 0
Long QT Syndrome
CUI: C0023976
Disease: Long QT Syndrome
349 0.882 0.120 11 2572963 missense variant G/A snv 4.8E-05 2.1E-05 0.010 1.000 1 2017 2017