Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909302
rs121909302
OXCT1
CUI: C0342792
Disease: Succinyl-CoA:3-oxoacid CoA transferase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency 		0.800 GeneticVariation UNIPROT Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. 21296660

2011
dbSNP: rs121909302
rs121909302
OXCT1
CUI: C0342792
Disease: Succinyl-CoA:3-oxoacid CoA transferase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency 		0.800 GeneticVariation UNIPROT Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations. 10964512

2000
dbSNP: rs121909302
rs121909302
OXCT1
CUI: C0342792
Disease: Succinyl-CoA:3-oxoacid CoA transferase deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency 		0.800 GeneticVariation UNIPROT Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings. 9671268

1998