rs28384199, ND5;ND4

N. diseases: 3
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 0.160 MT 11777 missense variant C/A;G snv 0.700 1.000 2 2003 2004
Optic Atrophy, Hereditary, Leber
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
46 0.882 0.160 MT 11777 missense variant C/A;G snv 0.700 1.000 2 2003 2003
MITOCHONDRIAL COMPLEX I DEFICIENCY
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
31 0.882 0.160 MT 11777 missense variant C/A;G snv 0.700 0