Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.810 GeneticVariation UNIPROT Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA. 17352390

2007
dbSNP: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.810 GeneticVariation UNIPROT Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. 9501263

1998
dbSNP: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.810 GeneticVariation UNIPROT A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. 8395787

1993
dbSNP: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.810 GeneticVariation UNIPROT Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. 9270604

1997
dbSNP: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.810 GeneticVariation UNIPROT De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome. 9556461

1998
dbSNP: rs199476112
rs199476112
ND4 ; ND5
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation UNIPROT Electron transfer properties of NADH:ubiquinone reductase in the ND13460 and the ND411778 mutations of the Leber hereditary optic neuroretinopathy (LHON). 1959619

1991
dbSNP: rs199476112
rs199476112
ND4 ; ND5
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation UNIPROT Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. 3201231

1988
dbSNP: rs199476112
rs199476112
ND4 ; ND5
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation UNIPROT Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy. 1959931

1991
dbSNP: rs199476112
rs199476112
ND4 ; ND5
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation UNIPROT Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations. 9452107

1998
dbSNP: rs794726857
rs794726857
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C4225415
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 		0.800 GeneticVariation UNIPROT

dbSNP: rs267606892
rs267606892
ND3 ; ND4 ; ND4L ; ND5
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 GeneticVariation UNIPROT

dbSNP: rs267606891
rs267606891
COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.800 GeneticVariation UNIPROT A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. 17152068

2007
dbSNP: rs267606891
rs267606891
COX3 ; ND3 ; ND4 ; ND4L
CUI: C4746992
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 		0.800 GeneticVariation UNIPROT High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010
dbSNP: rs267606891
rs267606891
COX3 ; ND3 ; ND4 ; ND4L
CUI: C4746992
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 		0.800 GeneticVariation UNIPROT Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. 11456298

2001
dbSNP: rs267606891
rs267606891
COX3 ; ND3 ; ND4 ; ND4L
CUI: C4746992
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 		0.800 GeneticVariation UNIPROT De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. 14705112

2004
dbSNP: rs267606890
rs267606890
COX3 ; ND3 ; ND4 ; ND4L
CUI: C4746992
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 		0.800 GeneticVariation UNIPROT De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. 14705112

2004
dbSNP: rs267606890
rs267606890
COX3 ; ND3 ; ND4 ; ND4L
CUI: C4746992
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 		0.800 GeneticVariation UNIPROT High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010
dbSNP: rs267606890
rs267606890
COX3 ; ND3 ; ND4 ; ND4L
CUI: C4746992
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 		0.800 GeneticVariation UNIPROT Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. 11456298

2001
dbSNP: rs200613617
rs200613617
COX3 ; ND3 ; ND4 ; ND4L
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.800 GeneticVariation UNIPROT

dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.800 GeneticVariation UNIPROT A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. 8395787

1993
dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.800 GeneticVariation UNIPROT De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome. 9556461

1998
dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.800 GeneticVariation UNIPROT Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA. 17352390

2007
dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.800 GeneticVariation UNIPROT Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. 9501263

1998
dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C1839022
Disease: Striatonigral Degeneration, Infantile, Mitochondrial
Striatonigral Degeneration, Infantile, Mitochondrial 		0.800 GeneticVariation UNIPROT A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. 7668837

1995
dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.800 GeneticVariation UNIPROT Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. 9270604

1997