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 0.882 0.120 MT 9176 missense variant T/C;G snv 0.800 1.000 11 1993 2007
Striatonigral Degeneration, Infantile, Mitochondrial
CUI: C1839022
Disease: Striatonigral Degeneration, Infantile, Mitochondrial
2 0.882 0.120 MT 9176 missense variant T/C;G snv 0.800 1.000 1 1995 1995
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
CUI: C3275684
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
3 0.882 0.120 MT 9176 missense variant T/C;G snv 0.700 0