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 0.925 0.120 MT 9531 frameshift variant -/C delins 0.700 1.000 1 2000 2000
Cytochrome-c Oxidase Deficiency
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
44 0.925 0.120 MT 9531 frameshift variant -/C delins 0.700 0