rs267606897, CYTB;ND5

N. diseases: 4
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.
MELAS Syndrome
CUI: C0162671
Disease: MELAS Syndrome
53 0.882 0.200 MT 13513 missense variant G/A snv 0.800 1.000 4 1997 2007
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.882 0.200 MT 13513 missense variant G/A snv 0.700 1.000 6 1997 2004
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
8 0.882 0.200 MT 13513 missense variant G/A snv 0.700 0
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.882 0.200 MT 13513 missense variant G/A snv 0.700 0