Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606891
rs267606891
COX3 ; ND3 ; ND4 ; ND4L
A 0.800 CausalMutation CLINVAR Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia. 19458970

2009

dbSNP: rs267606891
rs267606891
COX3 ; ND3 ; ND4 ; ND4L
0.800 GeneticVariation UNIPROT A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. 17152068

2007

dbSNP: rs267606891
rs267606891
COX3 ; ND3 ; ND4 ; ND4L
A 0.800 CausalMutation CLINVAR A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. 17152068

2007