Gene: ND1 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs397515507
rs397515507
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 Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families. 11479733

2001
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: rs199476119
rs199476119
COX1 ; ND1 ; ND2
C 0.800 CausalMutation CLINVAR

dbSNP: rs41460449
rs41460449
ND1 ; ND2
C 0.800 CausalMutation CLINVAR

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