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.
Fabry Disease
CUI: C0002986
Disease: Fabry Disease
206 0.925 0.200 X 101403828 missense variant G/A snv 2.2E-04 4.0E-04 0.760 1.000 13 1990 2019
Cerebrovascular Disorders
CUI: C0007820
Disease: Cerebrovascular Disorders
56 0.925 0.200 X 101403828 missense variant G/A snv 2.2E-04 4.0E-04 0.010 1.000 1 2015 2015
Left Ventricular Hypertrophy
CUI: C0149721
Disease: Left Ventricular Hypertrophy
67 0.925 0.200 X 101403828 missense variant G/A snv 2.2E-04 4.0E-04 0.010 1.000 1 2014 2014