Gene: ACADSB ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852649
rs137852649
ACADSB
0.700 GeneticVariation UNIPROT Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. 16317551

2006
dbSNP: rs137852649
rs137852649
ACADSB
0.700 GeneticVariation UNIPROT 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. 10832746

2000