COQ2, coenzyme Q2, polyprenyltransferase, 27235

N. diseases: 139; N. variants: 14
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: rs397514727
rs397514727 		1.000 4 83267659 missense variant A/G snv
CUI: C3714927
Disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO
MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO 		0.800 1.000 1 2013 2013
dbSNP: rs121918231
rs121918231 		0.925 0.160 4 83273598 missense variant C/T snv 8.0E-06 2.8E-05
CUI: C3551954
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1
COENZYME Q10 DEFICIENCY, PRIMARY, 1 		0.700 1.000 3 2007 2016
dbSNP: rs1161445886
rs1161445886 		1.000 4 83269918 missense variant G/C snv 4.0E-06
CUI: C3551954
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1
COENZYME Q10 DEFICIENCY, PRIMARY, 1 		0.700 0
dbSNP: rs121918230
rs121918230 		1.000 4 83269882 missense variant T/C snv 4.1E-06
CUI: C3551954
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1
COENZYME Q10 DEFICIENCY, PRIMARY, 1 		0.700 0
dbSNP: rs121918233
rs121918233 		0.925 0.160 4 83279081 missense variant C/T snv 1.4E-05 2.1E-05
CUI: C3551954
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1
COENZYME Q10 DEFICIENCY, PRIMARY, 1 		0.700 0
dbSNP: rs750710187
rs750710187 		1.000 4 83264268 frameshift variant A/- delins 1.2E-05 1.4E-05
CUI: C3551954
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1
COENZYME Q10 DEFICIENCY, PRIMARY, 1 		0.700 0
dbSNP: rs751185256
rs751185256 		0.925 0.160 4 83264306 stop gained G/A;T snv 1.2E-05; 4.0E-06
CUI: C3714927
Disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO
MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs763562410
rs763562410 		1.000 4 83264305 missense variant C/T snv 2.0E-05
CUI: C3714927
Disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO
MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs778094136
rs778094136 		1.000 4 83284533 missense variant T/C;G snv 5.0E-05; 5.5E-06
CUI: C3714927
Disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO
MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs148156462
rs148156462 		0.925 0.080 4 83264287 missense variant A/G snv 4.2E-03 1.6E-03
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.020 0.500 2 2015 2015
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: rs1462568548
rs1462568548 		1.000 0.040 4 83279049 missense variant G/A snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs148156462
rs148156462 		0.925 0.080 4 83264287 missense variant A/G snv 4.2E-03 1.6E-03
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs148156462
rs148156462 		0.925 0.080 4 83264287 missense variant A/G snv 4.2E-03 1.6E-03
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4693075
rs4693075 		4 83271015 intron variant G/A;C;T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 < 0.001 1 2013 2013
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
dbSNP: rs758847245
rs758847245 		0.925 0.040 4 83267696 missense variant C/T snv 6.1E-06 4.9E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs758847245
rs758847245 		0.925 0.040 4 83267696 missense variant C/T snv 6.1E-06 4.9E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2018 2018
dbSNP: rs766552045
rs766552045 		0.925 0.040 4 83284854 missense variant C/T snv 5.3E-05 2.1E-05
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs766552045
rs766552045 		0.925 0.040 4 83284854 missense variant C/T snv 5.3E-05 2.1E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2018 2018