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.
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 1.000 0.120 MT 8839 missense variant G/A;C snv 0.700 1.000 1 2013 2013
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 1.000 0.120 MT 8839 missense variant G/A;C snv 0.700 0