Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909602
rs121909602
COX6B1
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.800 GeneticVariation UNIPROT Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. 18499082

2008
dbSNP: rs121909602
rs121909602
COX6B1
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		A 0.800 CausalMutation CLINVAR

dbSNP: rs778740017
rs778740017
COX6B1
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		T 0.700 CausalMutation CLINVAR