Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606893
rs267606893
ND5
C 0.800 GeneticVariation CLINVAR Fatal manifestation of a de novo ND5 mutation: Insights into the pathogenetic mechanisms of mtDNA ND5 gene defects. 17317336

2007
dbSNP: rs267606893
rs267606893
ND5
0.800 GeneticVariation UNIPROT Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. 17400793

2007
dbSNP: rs267606893
rs267606893
ND5
C 0.800 CausalMutation CLINVAR Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. 14684687

2003
dbSNP: rs267606893
rs267606893
ND5
0.800 GeneticVariation UNIPROT A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. 12796552

2003
dbSNP: rs267606893
rs267606893
ND5
C 0.800 CausalMutation CLINVAR Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 11938446

2002
dbSNP: rs267606893
rs267606893
ND5
C 0.800 GeneticVariation CLINVAR Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 11938446

2002
dbSNP: rs267606893
rs267606893
ND5
0.800 GeneticVariation UNIPROT Leigh disease associated with a novel mitochondrial DNA ND5 mutation. 11938446

2002