Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147936696
rs147936696
ACADSB
A 0.700 GeneticVariation CLINVAR Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening. 20547083

2010
dbSNP: rs147936696
rs147936696
ACADSB
A 0.700 CausalMutation CLINVAR Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening. 20547083

2010
dbSNP: rs188094280
rs188094280
ACADSB
A 0.700 GeneticVariation CLINVAR Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening. 20547083

2010
dbSNP: rs58639322
rs58639322
ACADSB
T 0.700 CausalMutation CLINVAR Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening. 20547083

2010
dbSNP: rs58639322
rs58639322
ACADSB
T 0.700 GeneticVariation CLINVAR Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening. 20547083

2010
dbSNP: rs188094280
rs188094280
ACADSB
A 0.700 GeneticVariation CLINVAR 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. 17945527

2008
dbSNP: rs58639322
rs58639322
ACADSB
T 0.700 CausalMutation CLINVAR 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. 17945527

2008
dbSNP: rs58639322
rs58639322
ACADSB
T 0.700 GeneticVariation CLINVAR 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. 17945527

2008
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: rs58639322
rs58639322
ACADSB
T 0.700 CausalMutation CLINVAR 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation. 15615815

2005
dbSNP: rs58639322
rs58639322
ACADSB
T 0.700 GeneticVariation CLINVAR 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation. 15615815

2005
dbSNP: rs137852649
rs137852649
ACADSB
0.700 GeneticVariation UNIPROT 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. 10832746

2000