Gene: ND1 ×
Source: CURATED ×
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 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: rs397515507
rs397515507
ND1 ; ND2
A 0.700 GeneticVariation CLINVAR Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families. 11479733

2001
dbSNP: rs28616230
rs28616230
COX1 ; ND1 ; ND2
A 0.700 GeneticVariation CLINVAR Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis. 12112111

2002
dbSNP: rs28616230
rs28616230
COX1 ; ND1 ; ND2
A 0.700 GeneticVariation CLINVAR Sequence variation in mitochondrial complex I genes: mutation or polymorphism? 15972314

2006
dbSNP: rs397515507
rs397515507
ND1 ; ND2
A 0.700 GeneticVariation CLINVAR Sequence variation in mitochondrial complex I genes: mutation or polymorphism? 15972314

2006
dbSNP: rs28616230
rs28616230
COX1 ; ND1 ; ND2
A 0.700 GeneticVariation CLINVAR Novel A14841G mutation is associated with high penetrance of LHON/C4171A family. 19555656

2009
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: rs28616230
rs28616230
COX1 ; ND1 ; ND2
A 0.700 GeneticVariation CLINVAR Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. 22879922

2012
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 Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families. 25194554

2014