COQ4, coenzyme Q4, 51117

N. diseases: 17; N. variants: 16
Disease: Leigh Disease ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs776825296
rs776825296 		1.000 0.120 9 128325849 missense variant G/A;C snv 1.2E-04; 4.0E-06
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019