Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476104
rs199476104
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation UNIPROT The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. 11133798

2001
dbSNP: rs199476104
rs199476104
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation UNIPROT Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene. 10447650

1999
dbSNP: rs199476104
rs199476104
CYTB ; ND5 ; ND6
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: rs199476104
rs199476104
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation UNIPROT Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene. 8854108

1996
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: rs199476108
rs199476108
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation UNIPROT The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. 11133798

2001
dbSNP: rs199476108
rs199476108
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation UNIPROT Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene. 10447650

1999
dbSNP: rs199476108
rs199476108
CYTB ; ND5 ; ND6
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: rs199476108
rs199476108
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.810 GeneticVariation UNIPROT Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene. 8854108

1996
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: 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: 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 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 Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. 3201231

1988
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: 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: rs199476106
rs199476106
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.800 GeneticVariation UNIPROT The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. 11133798

2001
dbSNP: rs199476106
rs199476106
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.800 GeneticVariation UNIPROT Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene. 10447650

1999
dbSNP: rs199476106
rs199476106
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.800 GeneticVariation UNIPROT Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations. 9452107

1998
dbSNP: rs199476106
rs199476106
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.800 GeneticVariation UNIPROT Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene. 8854108

1996
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: 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: rs199476109
rs199476109
CYTB ; ND5 ; ND6
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.800 GeneticVariation UNIPROT Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. 14595656

2003
dbSNP: rs267606892
rs267606892
ND3 ; ND4 ; ND4L ; ND5
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 GeneticVariation UNIPROT

dbSNP: rs267606893
rs267606893
ND5
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.800 GeneticVariation UNIPROT Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. 17400793

2007