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.
Alpha-Sarcoglycanopathies
CUI: C2936332
Disease: Alpha-Sarcoglycanopathies
58 0.925 0.200 17 50168562 stop gained C/T snv 5.7E-06 0.700 0
Muscular Dystrophy
CUI: C0026850
Disease: Muscular Dystrophy
67 0.925 0.200 17 50168562 stop gained C/T snv 5.7E-06 0.700 0