Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267606893
rs267606893
ND5
0.756 0.107 MT 12706 missense variant snp
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
0.800 0 2002 2002
dbSNP: rs267606893
rs267606893
ND5
0.756 0.107 MT 12706 missense variant snp
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.800 0 1993 2004
dbSNP: rs267606893
rs267606893
ND5
0.756 0.107 MT 12706 missense variant snp
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.700 0
dbSNP: rs267606893
rs267606893
ND5
0.756 0.107 MT 12706 missense variant snp
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 0
dbSNP: rs267606893
rs267606893
ND5
0.756 0.107 MT 12706 missense variant snp
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
0.700 0
dbSNP: rs267606893
rs267606893
ND5
0.756 0.107 MT 12706 missense variant snp
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
0.700 0
dbSNP: rs267606893
rs267606893
ND5
0.756 0.107 MT 12706 missense variant snp
Leigh Syndrome due to Mitochondrial Complex V Deficiency
0.700 0
dbSNP: rs267606893
rs267606893
ND5
0.756 0.107 MT 12706 missense variant snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 0
dbSNP: rs267606893
rs267606893
ND5
0.756 0.107 MT 12706 missense variant snp
Leigh Syndrome due to Mitochondrial Complex III Deficiency
0.700 0