Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131691567
rs1131691567
ACAT1
C 0.700 CausalMutation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215

2019
dbSNP: rs120074140
rs120074140
ACAT1
A 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215

2019
dbSNP: rs120074141
rs120074141
ACAT1
A 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215

2019
dbSNP: rs120074142
rs120074142
ACAT1
A 0.700 CausalMutation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215

2019
dbSNP: rs120074143
rs120074143
ACAT1
T 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215

2019
dbSNP: rs120074144
rs120074144
ACAT1
T 0.700 CausalMutation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215

2019
dbSNP: rs120074145
rs120074145
ACAT1
G 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215

2019
dbSNP: rs120074146
rs120074146
ACAT1
C 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215

2019
dbSNP: rs120074147
rs120074147
ACAT1
C 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215

2019
dbSNP: rs120074148
rs120074148
ACAT1
G 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215

2019
dbSNP: rs1280110907
rs1280110907
ACAT1
C 0.700 CausalMutation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215

2019
dbSNP: rs145229472
rs145229472
ACAT1
C 0.700 CausalMutation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215

2019
dbSNP: rs1476273214
rs1476273214
ACAT1
GC 0.700 CausalMutation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215

2019
dbSNP: rs148639841
rs148639841
ACAT1
G 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215

2019
dbSNP: rs199524907
rs199524907
ACAT1
G 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215

2019
dbSNP: rs370720208
rs370720208
ACAT1
A 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215

2019
dbSNP: rs387906282
rs387906282
ACAT1
A 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215

2019
dbSNP: rs387906283
rs387906283
ACAT1
TA 0.700 CausalMutation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215

2019
dbSNP: rs532190594
rs532190594
ACAT1
T 0.700 CausalMutation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215

2019
dbSNP: rs727503796
rs727503796
ACAT1
T 0.700 CausalMutation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215

2019
dbSNP: rs748303093
rs748303093
ACAT1
C 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215

2019
dbSNP: rs762991875
rs762991875
ACAT1
C 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215

2019
dbSNP: rs779565865
rs779565865
ACAT1
A 0.700 CausalMutation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215

2019
dbSNP: rs781496140
rs781496140
ACAT1
A 0.700 CausalMutation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215

2019
dbSNP: rs879255505
rs879255505
ACAT1
T 0.700 GeneticVariation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215

2019