rs267606893, 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.
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.925 0.120 MT 12706 missense variant T/C snv 0.800 1.000 5 2002 2007
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
8 0.925 0.120 MT 12706 missense variant T/C snv 0.700 0