Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894560
rs104894560
COX10
0.800 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016
dbSNP: rs104894560
rs104894560
COX10
0.800 GeneticVariation UNIPROT Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency. 12928484

2003
dbSNP: rs104894560
rs104894560
COX10
0.800 GeneticVariation UNIPROT A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency. 10767350

2000
dbSNP: rs104894560
rs104894560
COX10
A 0.800 CausalMutation CLINVAR