COQ4, coenzyme Q4, 51117

N. diseases: 17; N. variants: 16
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: rs143441644
rs143441644 		1.000 9 128333565 missense variant C/T snv 4.0E-06; 2.0E-04 1.7E-04
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.800 1.000 3 2015 2016
dbSNP: rs774395996
rs774395996 		1.000 9 128332183 missense variant C/G;T snv 4.6E-06; 9.3E-06
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.800 1.000 2 2015 2016
dbSNP: rs786204770
rs786204770 		1.000 9 128323100 missense variant T/C snv
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.800 1.000 2 2015 2016
dbSNP: rs1045118320
rs1045118320 		0.925 9 128332219 missense variant C/A snv 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 2005 2017
dbSNP: rs1045118320
rs1045118320 		0.925 9 128332219 missense variant C/A snv 7.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 13 2005 2017
dbSNP: rs758522459
rs758522459 		0.925 9 128323147 missense variant G/C snv 4.3E-05 7.0E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 2005 2017
dbSNP: rs758522459
rs758522459 		0.925 9 128323147 missense variant G/C snv 4.3E-05 7.0E-05
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 13 2005 2017
dbSNP: rs1554796655
rs1554796655 		1.000 9 128322923 frameshift variant -/G delins
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 1.000 2 2015 2015
dbSNP: rs141303335
rs141303335 		1.000 9 128325777 splice acceptor variant A/G snv 8.0E-06 1.4E-05
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 1.000 1 2015 2015
dbSNP: rs767839639
rs767839639 		1.000 9 128322930 splice donor variant C/A;G snv 4.5E-06; 5.4E-05
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 1.000 1 2015 2015
dbSNP: rs1045118320
rs1045118320 		0.925 9 128332219 missense variant C/A snv 7.0E-06
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 0
dbSNP: rs1163170578
rs1163170578 		1.000 9 128332187 missense variant T/G snv 4.4E-06
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 0
dbSNP: rs747779231
rs747779231 		1.000 9 128325882 splice donor variant G/A;C;T snv 4.0E-05; 2.8E-05
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 0
dbSNP: rs758522459
rs758522459 		0.925 9 128323147 missense variant G/C snv 4.3E-05 7.0E-05
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 0
dbSNP: rs766317663
rs766317663 		1.000 9 128323135 missense variant C/T snv 1.3E-05 7.0E-06
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 0
dbSNP: rs775607037
rs775607037 		1.000 9 128332171 stop gained C/A;T snv 1.5E-05; 5.1E-06
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 0
dbSNP: rs786204771
rs786204771 		1.000 9 128332268 inframe deletion CCA/- delins
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 0
dbSNP: rs886040973
rs886040973 		1.000 9 128323142 missense variant GC/AA mnv
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 0
dbSNP: rs141228574
rs141228574 		1.000 0.200 9 128332233 missense variant G/C snv 6.3E-03 5.5E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017
dbSNP: rs141228574
rs141228574 		1.000 0.200 9 128332233 missense variant G/C snv 6.3E-03 5.5E-03
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017
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