Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606892
rs267606892
ND3 ; ND4 ; ND4L ; ND5
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 GeneticVariation UNIPROT

dbSNP: rs193302933
rs193302933
ND3 ; ND4 ; ND4L ; ND5
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT

dbSNP: rs267606893
rs267606893
ND5
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.800 GeneticVariation UNIPROT A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. 12796552

2003
dbSNP: rs267606896
rs267606896
CYTB ; ND5
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 GeneticVariation UNIPROT A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. 12796552

2003
dbSNP: rs387906424
rs387906424
CYTB ; ND5 ; ND6
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		0.800 GeneticVariation UNIPROT A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. 8016139

1994
dbSNP: rs199476105
rs199476105
CYTB ; ND5 ; ND6
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		0.800 GeneticVariation UNIPROT A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. 8016139

1994
dbSNP: rs199476113
rs199476113
ND4 ; ND4L ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 GeneticVariation UNIPROT A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I. 1323207

1992
dbSNP: rs387906425
rs387906425
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.800 GeneticVariation UNIPROT Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. 1900003

1991
dbSNP: rs267606899
rs267606899
CYTB ; ND5
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.800 GeneticVariation UNIPROT Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. 1900003

1991
dbSNP: rs28359178
rs28359178
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. 1900003

1991
dbSNP: rs199476107
rs199476107
CYTB ; ND5 ; ND6
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. 11781695

2001
dbSNP: rs199476108
rs199476108
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation UNIPROT An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. 1417830

1992
dbSNP: rs199476104
rs199476104
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation UNIPROT An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. 1417830

1992
dbSNP: rs397515506
rs397515506
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.800 GeneticVariation UNIPROT An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. 1417830

1992
dbSNP: rs199476106
rs199476106
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.800 GeneticVariation UNIPROT An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. 1417830

1992
dbSNP: rs869025186
rs869025186
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. 1417830

1992
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 Electron transfer properties of NADH:ubiquinone reductase in the ND13460 and the ND411778 mutations of the Leber hereditary optic neuroretinopathy (LHON). 1959619

1991
dbSNP: rs387906424
rs387906424
CYTB ; ND5 ; ND6
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		0.800 GeneticVariation UNIPROT Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. 8644732

1996
dbSNP: rs199476105
rs199476105
CYTB ; ND5 ; ND6
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		0.800 GeneticVariation UNIPROT Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. 8644732

1996
dbSNP: rs200873900
rs200873900
ND4 ; ND5
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		0.700 GeneticVariation UNIPROT Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. 8644732

1996
dbSNP: rs267606898
rs267606898
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. 9299505

1997
dbSNP: rs267606897
rs267606897
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. 9299505

1997
dbSNP: rs267606895
rs267606895
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. 9299505

1997
dbSNP: rs267606894
rs267606894
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. 9299505

1997