Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476105
rs199476105
CYTB ; ND5 ; ND6
A 0.700 CausalMutation CLINVAR Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. 10894222

2000

dbSNP: rs199476105
rs199476105
CYTB ; ND5 ; ND6
A 0.700 CausalMutation CLINVAR Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia. 8622678

1996

dbSNP: rs199476105
rs199476105
CYTB ; ND5 ; ND6
A 0.700 CausalMutation CLINVAR A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. 8016139

1994