Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906308
rs387906308
ACADS
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		T 0.700 CausalMutation CLINVAR An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia. 29678161

2018
dbSNP: rs387906308
rs387906308
ACADS
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		T 0.700 CausalMutation CLINVAR A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD). 26110041

2015
dbSNP: rs387906308
rs387906308
ACADS
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		T 0.700 CausalMutation CLINVAR Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. 11134486

2001
dbSNP: rs387906308
rs387906308
ACADS
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		T 0.700 GeneticVariation CLINVAR