COQ2, coenzyme Q2, polyprenyltransferase, 27235

N. diseases: 139; N. variants: 14
Disease: COENZYME Q10 DEFICIENCY ×
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: rs121918231
rs121918231 		0.925 0.160 4 83273598 missense variant C/T snv 8.0E-06 2.8E-05
CUI: C1843920
Disease: COENZYME Q10 DEFICIENCY
COENZYME Q10 DEFICIENCY 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs121918233
rs121918233 		0.925 0.160 4 83279081 missense variant C/T snv 1.4E-05 2.1E-05
CUI: C1843920
Disease: COENZYME Q10 DEFICIENCY
COENZYME Q10 DEFICIENCY 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs751185256
rs751185256 		0.925 0.160 4 83264306 stop gained G/A;T snv 1.2E-05; 4.0E-06
CUI: C1843920
Disease: COENZYME Q10 DEFICIENCY
COENZYME Q10 DEFICIENCY 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014