Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs752677472
rs752677472
ACADS
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		T 0.700 GeneticVariation CLINVAR Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. 12736383

2003
dbSNP: rs752677472
rs752677472
ACADS
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		T 0.700 GeneticVariation CLINVAR A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. 14568186

2003