Gene: COX1 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474827
rs199474827
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
0.800 GeneticVariation UNIPROT A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy. 10486321

1999
dbSNP: rs267606883
rs267606883
COX1 ; COX2
0.700 GeneticVariation UNIPROT Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient. 16284789

2006
dbSNP: rs267606883
rs267606883
COX1 ; COX2
0.700 GeneticVariation UNIPROT Metabolic consequences of a novel missense mutation of the mtDNA CO I gene. 12140182

2002
dbSNP: rs28461189
rs28461189
ATP8 ; COX1 ; COX2
0.700 GeneticVariation UNIPROT