rs199476112, ND4;ND5

N. diseases: 2
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 11778 missense variant G/A snv 0.810 1.000 6 1988 2011
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.925 0.160 MT 11778 missense variant G/A snv 0.010 1.000 1 2011 2011