ACAT1, acetyl-CoA acetyltransferase 1, 38

N. diseases: 176; N. variants: 30
Disease: Ketoacidosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131691567
rs1131691567
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0220982
Disease:
Ketoacidosis 		C 0.700 CausalMutation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs120074140
rs120074140
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0220982
Disease:
Ketoacidosis 		A 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs120074141
rs120074141
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0220982
Disease:
Ketoacidosis 		A 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs120074142
rs120074142
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0220982
Disease:
Ketoacidosis 		A 0.700 CausalMutation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs120074143
rs120074143
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0220982
Disease:
Ketoacidosis 		T 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs120074144
rs120074144
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0220982
Disease:
Ketoacidosis 		T 0.700 CausalMutation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs120074145
rs120074145
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0220982
Disease:
Ketoacidosis 		G 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs120074146
rs120074146
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0220982
Disease:
Ketoacidosis 		C 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs120074147
rs120074147
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0220982
Disease:
Ketoacidosis 		C 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs120074148
rs120074148
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0220982
Disease:
Ketoacidosis 		G 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs1280110907
rs1280110907
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0220982
Disease:
Ketoacidosis 		C 0.700 CausalMutation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs145229472
rs145229472
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0220982
Disease:
Ketoacidosis 		C 0.700 CausalMutation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs1476273214
rs1476273214
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0220982
Disease:
Ketoacidosis 		GC 0.700 CausalMutation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs148639841
rs148639841
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0220982
Disease:
Ketoacidosis 		G 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs199524907
rs199524907
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0220982
Disease:
Ketoacidosis 		G 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs370720208
rs370720208
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0220982
Disease:
Ketoacidosis 		A 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs387906282
rs387906282
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0220982
Disease:
Ketoacidosis 		A 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs387906283
rs387906283
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0220982
Disease:
Ketoacidosis 		TA 0.700 CausalMutation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs532190594
rs532190594
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0220982
Disease:
Ketoacidosis 		T 0.700 CausalMutation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs727503796
rs727503796
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0220982
Disease:
Ketoacidosis 		T 0.700 CausalMutation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs748303093
rs748303093
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0220982
Disease:
Ketoacidosis 		C 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs762991875
rs762991875
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0220982
Disease:
Ketoacidosis 		C 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs779565865
rs779565865
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0220982
Disease:
Ketoacidosis 		A 0.700 CausalMutation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs781496140
rs781496140
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0220982
Disease:
Ketoacidosis 		A 0.700 CausalMutation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
dbSNP: rs879255505
rs879255505
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0220982
Disease:
Ketoacidosis 		T 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019