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.
LEBER OPTIC ATROPHY AND DYSTONIA
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
5 0.851 0.200 MT 14459 missense variant G/A snv 0.800 1.000 2 1994 1996
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.851 0.200 MT 14459 missense variant G/A snv 0.700 1.000 3 1994 2000
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
8 0.851 0.200 MT 14459 missense variant G/A snv 0.700 0
Optic Atrophy, Hereditary, Leber
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
46 0.851 0.200 MT 14459 missense variant G/A snv 0.700 0