Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139877390
rs139877390
COA3 ; CNTD1
C 0.700 CausalMutation CLINVAR

dbSNP: rs1556423388
rs1556423388
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3
A 0.700 CausalMutation CLINVAR

dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
G 0.700 CausalMutation CLINVAR

dbSNP: rs199474825
rs199474825
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
C 0.700 CausalMutation CLINVAR

dbSNP: rs199474827
rs199474827
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
A 0.800 CausalMutation CLINVAR

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: rs199474828
rs199474828
ATP6 ; ATP8 ; COX2 ; COX3
A 0.700 CausalMutation CLINVAR

dbSNP: rs199474829
rs199474829
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
A 0.700 CausalMutation CLINVAR

dbSNP: rs199476132
rs199476132
COX1 ; COX2 ; ND2 ; TRNN
C 0.700 CausalMutation CLINVAR

dbSNP: rs201078173
rs201078173
SDS
0.010 GeneticVariation BEFREE In contrast, CCS/G93A SOD1 mouse spinal cord showed no reduction in levels of selected subunits from complexes I, II, III, or V. Heme A analyses of spinal cord further support the existence of cytochrome c oxidase deficiency in CCS/G93A SOD1 mice. 18334481

2008
dbSNP: rs267606612
rs267606612
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
T 0.700 CausalMutation CLINVAR

dbSNP: rs267606613
rs267606613
COX3 ; ND3 ; ND4 ; ND4L
A 0.700 CausalMutation CLINVAR

dbSNP: rs267606614
rs267606614
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
AC 0.700 CausalMutation CLINVAR

dbSNP: rs267606615
rs267606615
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
A 0.700 CausalMutation CLINVAR

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

dbSNP: rs28679680
rs28679680
ATP6 ; ATP8 ; COX1 ; COX2
A 0.700 CausalMutation CLINVAR

dbSNP: rs587776513
rs587776513
TACO1
GC 0.700 CausalMutation CLINVAR

dbSNP: rs587776513
rs587776513
TACO1
GC 0.700 GeneticVariation CLINVAR Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome. 19503089

2009
dbSNP: rs587776629
rs587776629
SCO1 ; ADPRM
A 0.700 CausalMutation CLINVAR

dbSNP: rs587776904
rs587776904
COX14
A 0.700 CausalMutation CLINVAR

dbSNP: rs587777004
rs587777004
HNRNPU ; COX20
0.800 GeneticVariation UNIPROT The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis. 29154948

2018
dbSNP: rs587777004
rs587777004
HNRNPU ; COX20
0.800 GeneticVariation UNIPROT A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. 23125284

2013
dbSNP: rs587777004
rs587777004
HNRNPU ; COX20
0.800 GeneticVariation UNIPROT Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation. 24202787

2014