ACAT1, acetyl-CoA acetyltransferase 1, 38

N. diseases: 176; N. variants: 30
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: rs148639841
rs148639841 		1.000 0.080 11 108138934 missense variant A/C;G snv 4.0E-06; 6.0E-05
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 0.833 6 1991 2019
dbSNP: rs120074147
rs120074147 		1.000 0.080 11 108144039 missense variant G/C snv 7.4E-06
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 5 1991 2019
dbSNP: rs762991875
rs762991875 		1.000 0.080 11 108138917 missense variant G/C snv 6.0E-05 6.3E-05
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 7 1991 2019
dbSNP: rs120074140
rs120074140 		1.000 0.080 11 108146334 missense variant G/A snv
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 5 1991 2019
dbSNP: rs120074141
rs120074141 		1.000 0.080 11 108139009 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 5 1991 2019
dbSNP: rs120074143
rs120074143 		1.000 0.080 11 108146332 missense variant G/T snv 7.0E-06
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 5 1991 2019
dbSNP: rs120074145
rs120074145 		1.000 0.080 11 108134260 missense variant A/G snv
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 5 1991 2019
dbSNP: rs120074146
rs120074146 		1.000 0.080 11 108142545 missense variant T/C;G snv 1.6E-05; 4.0E-06
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 5 1991 2019
dbSNP: rs886041122
rs886041122 		1.000 0.080 11 108142500 missense variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2019 2019
dbSNP: rs532190594
rs532190594 		1.000 0.080 11 108140107 stop gained C/A;T snv 8.0E-06; 1.2E-05
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 3 2010 2019
dbSNP: rs727503796
rs727503796 		1.000 0.080 11 108141701 splice donor variant G/T snv 8.0E-06 7.0E-06
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 7 1992 2019
dbSNP: rs199524907
rs199524907 		1.000 0.080 11 108138935 missense variant A/G snv 3.1E-04 3.5E-05
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 1995 2019
dbSNP: rs145229472
rs145229472 		1.000 0.080 11 108146200 splice acceptor variant A/C snv 2.8E-05 2.8E-05
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 1992 2019
dbSNP: rs1476273214
rs1476273214 		1.000 0.080 11 108121653 frameshift variant -/C delins 2.7E-05
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2004 2019
dbSNP: rs120074144
rs120074144 		1.000 0.080 11 108141688 stop gained C/G;T snv 4.0E-06; 4.0E-06
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1994 2019
dbSNP: rs748303093
rs748303093 		1.000 0.080 11 108146356 missense variant T/A;C snv 4.0E-06; 1.6E-05
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2018 2019
dbSNP: rs879255505
rs879255505 		1.000 0.080 11 108140138 missense variant C/T snv
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2016 2019
dbSNP: rs1131691567
rs1131691567 		1.000 0.080 11 108146201 splice acceptor variant G/C snv 4.0E-06
CUI: C0220982
Disease: Ketoacidosis
Ketoacidosis 		Nutritional and Metabolic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1131691567
rs1131691567 		1.000 0.080 11 108146201 splice acceptor variant G/C snv 4.0E-06
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs120074140
rs120074140 		1.000 0.080 11 108146334 missense variant G/A snv
CUI: C0220982
Disease: Ketoacidosis
Ketoacidosis 		Nutritional and Metabolic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs120074140
rs120074140 		1.000 0.080 11 108146334 missense variant G/A snv
CUI: C0521654
Disease: Neurologic Deficits
Neurologic Deficits 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs120074141
rs120074141 		1.000 0.080 11 108139009 missense variant G/A snv 1.6E-05 2.1E-05
CUI: C0220982
Disease: Ketoacidosis
Ketoacidosis 		Nutritional and Metabolic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs120074142
rs120074142 		1.000 0.080 11 108121608 start lost T/A snv
CUI: C0220982
Disease: Ketoacidosis
Ketoacidosis 		Nutritional and Metabolic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs120074142
rs120074142 		1.000 0.080 11 108121608 start lost T/A snv
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs120074142
rs120074142 		1.000 0.080 11 108121608 start lost T/A snv
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2019 2019