Gene: ND1 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476119
rs199476119
COX1 ; ND1 ; ND2
C 0.800 CausalMutation CLINVAR

dbSNP: rs41460449
rs41460449
ND1 ; ND2
C 0.800 CausalMutation CLINVAR

dbSNP: rs1599988
rs1599988
COX1 ; ND1 ; ND2
0.700 GeneticVariation UNIPROT

dbSNP: rs199476122
rs199476122
ND1 ; ND2
A 0.700 CausalMutation CLINVAR

dbSNP: rs199476125
rs199476125
ND1 ; ND2
A 0.700 CausalMutation CLINVAR

dbSNP: rs28616230
rs28616230
COX1 ; ND1 ; ND2
A 0.700 CausalMutation CLINVAR

dbSNP: rs397515507
rs397515507
ND1 ; ND2
A 0.700 CausalMutation CLINVAR

dbSNP: rs397515508
rs397515508
ND1 ; ND2
A 0.700 CausalMutation CLINVAR

dbSNP: rs397515612
rs397515612
ND1 ; ND2
A 0.700 CausalMutation CLINVAR

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

1991
dbSNP: rs199476119
rs199476119
COX1 ; ND1 ; ND2
0.800 GeneticVariation UNIPROT A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. 1674640

1991
dbSNP: rs41460449
rs41460449
ND1 ; ND2
0.800 GeneticVariation UNIPROT A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. 1674640

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
dbSNP: rs199476119
rs199476119
COX1 ; ND1 ; ND2
0.800 GeneticVariation UNIPROT Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. 1900003

1991
dbSNP: rs41460449
rs41460449
ND1 ; ND2
0.800 GeneticVariation UNIPROT Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. 1900003

1991
dbSNP: rs199476118
rs199476118
ND1 ; ND2
0.810 GeneticVariation UNIPROT An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. 1417830

1992
dbSNP: rs199476119
rs199476119
COX1 ; ND1 ; ND2
0.800 GeneticVariation UNIPROT An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. 1417830

1992
dbSNP: rs41460449
rs41460449
ND1 ; ND2
0.800 GeneticVariation UNIPROT An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. 1417830

1992
dbSNP: rs28616230
rs28616230
COX1 ; ND1 ; ND2
A 0.700 GeneticVariation CLINVAR Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions. 24884847

2014
dbSNP: rs397515507
rs397515507
ND1 ; ND2
A 0.700 GeneticVariation CLINVAR Confirmation of the mitochondrial ND1 gene mutation G3635A as a primary LHON mutation. 19497304

2009
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: rs199476119
rs199476119
COX1 ; ND1 ; ND2
0.800 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: rs41460449
rs41460449
ND1 ; ND2
0.800 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
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 Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. 1928099

1991