ACOX1, acyl-CoA oxidase 1, 51

N. diseases: 95; N. variants: 12
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: rs118204090
rs118204090 		1.000 0.160 17 75953563 missense variant T/C snv
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 0
dbSNP: rs118204091
rs118204091 		1.000 0.160 17 75957465 missense variant C/A;T snv
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 0
dbSNP: rs118204092
rs118204092 		1.000 0.160 17 75953469 missense variant T/C snv
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.800 0
dbSNP: rs2467099
rs2467099 		17 75952964 intron variant C/T snv 0.20
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs4788913
rs4788913 		17 75954135 intron variant G/A snv 0.54
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs4788913
rs4788913 		17 75954135 intron variant G/A snv 0.54
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs118204093
rs118204093 		1.000 0.160 17 75957555 stop gained G/A snv
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1567892272
rs1567892272 		1.000 0.160 17 75978664 frameshift variant G/- delins
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs387906248
rs387906248 		1.000 0.160 17 75960256 inframe deletion TTCCAGGCGGGCATGAAG/- delins
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs758962364
rs758962364 		1.000 0.160 17 75953467 missense variant A/G snv 4.0E-06
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs777937235
rs777937235 		1.000 0.160 17 75978627 missense variant C/G snv 8.0E-06
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs780887410
rs780887410 		1.000 0.160 17 75955935 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs797045080
rs797045080 		1.000 0.160 17 75948335 frameshift variant A/- delins 4.0E-06
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.700 0