Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908418
rs121908418
0.800 GeneticVariation UNIPROT Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening. 16857760

2006

dbSNP: rs121908418
rs121908418
0.800 GeneticVariation UNIPROT Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants. 15505379

2004

dbSNP: rs121908418
rs121908418
0.800 GeneticVariation UNIPROT Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. 12359132

2003

dbSNP: rs121908418
rs121908418
C 0.800 CausalMutation CLINVAR