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 1.000 0.160 X 101400692 missense variant G/C;T snv 0.800 1.000 27 1989 2016
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 1.000 0.160 X 101400692 missense variant G/C;T snv 0.700 0