Source: CLINVAR

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 		C 0.810 CausalMutation CLINVAR Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation. 8470982

1993
dbSNP: rs199476108
rs199476108
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		G 0.810 CausalMutation CLINVAR

dbSNP: rs199476108
rs199476108
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		A 0.810 CausalMutation CLINVAR

dbSNP: rs199476112
rs199476112
ND4 ; ND5
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		A 0.810 CausalMutation CLINVAR 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 		A 0.810 CausalMutation CLINVAR Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy. 1937476

1991
dbSNP: rs199476105
rs199476105
CYTB ; ND5 ; ND6
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		A 0.800 CausalMutation CLINVAR

dbSNP: rs199476106
rs199476106
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		G 0.800 CausalMutation CLINVAR

dbSNP: rs199476107
rs199476107
CYTB ; ND5 ; ND6
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		A 0.800 CausalMutation CLINVAR

dbSNP: rs199476109
rs199476109
CYTB ; ND5 ; ND6
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		C 0.800 CausalMutation CLINVAR Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA. 16337195

2005
dbSNP: rs199476109
rs199476109
CYTB ; ND5 ; ND6
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		C 0.800 CausalMutation CLINVAR Clinical and molecular findings in children with complex I deficiency. 15576045

2004
dbSNP: rs199476109
rs199476109
CYTB ; ND5 ; ND6
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		C 0.800 CausalMutation CLINVAR Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. 14595656

2003
dbSNP: rs199476109
rs199476109
CYTB ; ND5 ; ND6
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		C 0.800 CausalMutation CLINVAR Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. 14684687

2003
dbSNP: rs267606892
rs267606892
ND3 ; ND4 ; ND4L ; ND5
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		C 0.800 CausalMutation CLINVAR

dbSNP: rs267606893
rs267606893
ND5
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		C 0.800 GeneticVariation CLINVAR Fatal manifestation of a de novo ND5 mutation: Insights into the pathogenetic mechanisms of mtDNA ND5 gene defects. 17317336

2007
dbSNP: rs267606893
rs267606893
ND5
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		C 0.800 CausalMutation CLINVAR Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. 14684687

2003
dbSNP: rs267606893
rs267606893
ND5
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		C 0.800 GeneticVariation CLINVAR Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 11938446

2002
dbSNP: rs267606893
rs267606893
ND5
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		C 0.800 CausalMutation CLINVAR Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 11938446

2002
dbSNP: rs267606894
rs267606894
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		G 0.800 CausalMutation CLINVAR

dbSNP: rs267606895
rs267606895
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		C 0.800 CausalMutation CLINVAR

dbSNP: rs267606897
rs267606897
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		A 0.800 CausalMutation CLINVAR

dbSNP: rs267606898
rs267606898
CYTB ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		A 0.800 CausalMutation CLINVAR

dbSNP: rs267606899
rs267606899
CYTB ; ND5
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		T 0.800 CausalMutation CLINVAR

dbSNP: rs387906424
rs387906424
CYTB ; ND5 ; ND6
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		T 0.800 CausalMutation CLINVAR

dbSNP: rs387906425
rs387906425
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		A 0.800 CausalMutation CLINVAR

dbSNP: rs397515506
rs397515506
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		T 0.800 CausalMutation CLINVAR