Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474827
rs199474827
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency
0.800 GeneticVariation UNIPROT A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy. 10486321 1999
dbSNP: rs199474827
rs199474827
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency
A 0.800 CausalMutation CLINVAR
dbSNP: rs267606883
rs267606883
Entrez Id: 4512;4513
Gene Symbol: COX1;COX2
COX1;COX2
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency
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
Entrez Id: 4512;4513
Gene Symbol: COX1;COX2
COX1;COX2
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency
0.700 GeneticVariation UNIPROT Metabolic consequences of a novel missense mutation of the mtDNA CO I gene. 12140182 2002
dbSNP: rs1556423388
rs1556423388
Entrez Id: 4508;4509;4513;4514;4537
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3
ATP6;ATP8;COX2;COX3;ND3
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs199474825
rs199474825
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency
C 0.700 CausalMutation CLINVAR
dbSNP: rs199474828
rs199474828
Entrez Id: 4508;4509;4513;4514
Gene Symbol: ATP6;ATP8;COX2;COX3
ATP6;ATP8;COX2;COX3
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs199474829
rs199474829
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs199476132
rs199476132
Entrez Id: 4512;4513;4536;4570
Gene Symbol: COX1;COX2;ND2;TRNN
COX1;COX2;ND2;TRNN
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency
C 0.700 CausalMutation CLINVAR
dbSNP: rs28461189
rs28461189
Entrez Id: 4509;4512;4513
Gene Symbol: ATP8;COX1;COX2
ATP8;COX1;COX2
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency
0.700 GeneticVariation UNIPROT
dbSNP: rs28679680
rs28679680
Entrez Id: 4508;4509;4512;4513
Gene Symbol: ATP6;ATP8;COX1;COX2
ATP6;ATP8;COX1;COX2
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency
A 0.700 CausalMutation CLINVAR