Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476118
rs199476118
ND1 ; ND2
0.810 GeneticVariation BEFREE Five nonsynonymous changes, including primary LHON mutations (NADH dehydrogenase subunit 1 [ND1]:p.A52T, NADH dehydrogenase subunit 6 [ND6]:p.M64V, adenosine triphosphate [ATP] synthase subunit a (F-ATPase protein 6) [ATPase6]:p.M181T, NADH dehydrogenase subunit 4 [ND4]:p.R340H, and cytochrome B [CYB]:p.F181L), were found to be pathogenic. 23170061

2012
dbSNP: rs199476118
rs199476118
ND1 ; ND2
0.810 GeneticVariation UNIPROT An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. 1417830

1992
dbSNP: rs199476118
rs199476118
ND1 ; ND2
0.810 GeneticVariation UNIPROT Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. 1928099

1991
dbSNP: rs199476118
rs199476118
ND1 ; ND2
0.810 GeneticVariation UNIPROT Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. 2018041

1991
dbSNP: rs199476118
rs199476118
ND1 ; ND2
A 0.810 CausalMutation CLINVAR Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. 1928099

1991
dbSNP: rs199476118
rs199476118
ND1 ; ND2
0.810 GeneticVariation UNIPROT A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. 1674640

1991
dbSNP: rs199476118
rs199476118
ND1 ; ND2
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: rs199476118
rs199476118
ND1 ; ND2
0.810 GeneticVariation UNIPROT Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. 1900003

1991