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.
Optic Atrophy, Hereditary, Leber
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
46 0.925 0.160 MT 14484 missense variant T/C snv 0.810 1.000 7 1992 2001
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.925 0.160 MT 14484 missense variant T/C snv 0.700 1.000 1 2002 2002