Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs267606898
rs267606898
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? 12509858

2003
dbSNP: rs267606897
rs267606897
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? 12509858

2003
dbSNP: rs267606895
rs267606895
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? 12509858

2003
dbSNP: rs267606894
rs267606894
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 GeneticVariation UNIPROT Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? 12509858

2003
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: 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: 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: rs397515506
rs397515506
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 in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations. 9452107

1998
dbSNP: rs869025186
rs869025186
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 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 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: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene. 10447650

1999
dbSNP: rs397515506
rs397515506
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: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene. 10447650

1999
dbSNP: rs869025186
rs869025186
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 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: 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 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: rs397515506
rs397515506
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 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: rs869025186
rs869025186
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 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: rs267606893
rs267606893
ND5
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.800 GeneticVariation UNIPROT Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 11938446

2002
dbSNP: rs267606896
rs267606896
CYTB ; ND5
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 GeneticVariation UNIPROT Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 11938446

2002
dbSNP: rs387906425
rs387906425
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.800 GeneticVariation UNIPROT Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. 1732158

1992
dbSNP: rs267606899
rs267606899
CYTB ; ND5
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.800 GeneticVariation UNIPROT Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. 1732158

1992