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.
Cardiac Arrhythmia
CUI: C0003811
Disease: Cardiac Arrhythmia
111 0.851 0.240 12 2686216 missense variant G/A;C snv 4.0E-06; 6.0E-05 0.010 1.000 1 2016 2016
Heart Block
CUI: C0018794
Disease: Heart Block
7 0.851 0.240 12 2686216 missense variant G/A;C snv 4.0E-06; 6.0E-05 0.010 1.000 1 2016 2016
Sudden Unexplained Infant Death
CUI: C3814825
Disease: Sudden Unexplained Infant Death
1 0.851 0.240 12 2686216 missense variant G/A;C snv 4.0E-06; 6.0E-05 0.010 1.000 1 2014 2014
Tachycardia, Ventricular
CUI: C0042514
Disease: Tachycardia, Ventricular
31 0.851 0.240 12 2686216 missense variant G/A;C snv 4.0E-06; 6.0E-05 0.010 1.000 1 2016 2016
Timothy syndrome
CUI: C1832916
Disease: Timothy syndrome
9 0.851 0.240 12 2686216 missense variant G/A;C snv 4.0E-06; 6.0E-05 0.010 1.000 1 2016 2016