Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143441644
rs143441644
COQ4
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		T 0.800 GeneticVariation CLINVAR COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 25658047

2015
dbSNP: rs143441644
rs143441644
COQ4
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		T 0.800 GeneticVariation CLINVAR Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. 26185144

2015
dbSNP: rs143441644
rs143441644
COQ4
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		T 0.800 CausalMutation CLINVAR