COQ2, coenzyme Q2, polyprenyltransferase, 27235

N. diseases: 139; N. variants: 14
Disease: Familial (FPAH) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs758847245
rs758847245
Entrez Id: 27235
Gene Symbol: COQ2
COQ2
CUI: C1611743
Disease:
Familial (FPAH) 		0.010 GeneticVariation BEFREE Three of these were very rare variants, namely, p.P157S, p.L261Qfs*4, and p.G331S, and one variant, p.G21S, was found to show a significant association with familial PD. 29644397 2018