Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852649
rs137852649
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease:
2-Methylbutyryl-CoA Dehydrogenase Deficiency
0.700 GeneticVariation UNIPROT 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. 10832746 2000
dbSNP: rs137852649
rs137852649
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease:
2-Methylbutyryl-CoA Dehydrogenase Deficiency
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: rs147936696
rs147936696
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease:
2-Methylbutyryl-CoA Dehydrogenase Deficiency
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
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease:
2-Methylbutyryl-CoA Dehydrogenase Deficiency
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
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease:
2-Methylbutyryl-CoA Dehydrogenase Deficiency
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: rs188094280
rs188094280
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease:
2-Methylbutyryl-CoA Dehydrogenase Deficiency
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
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease:
2-Methylbutyryl-CoA Dehydrogenase Deficiency
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
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease:
2-Methylbutyryl-CoA Dehydrogenase Deficiency
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
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease:
2-Methylbutyryl-CoA Dehydrogenase Deficiency
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
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease:
2-Methylbutyryl-CoA Dehydrogenase Deficiency
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: rs58639322
rs58639322
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease:
2-Methylbutyryl-CoA Dehydrogenase Deficiency
T 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
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C1864912
Disease:
2-Methylbutyryl-CoA Dehydrogenase Deficiency
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: rs12570116
rs12570116
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Of the SNPs studied, only rs12570116 in the ACADSB gene, rs4760658 in the VDR gene and rs6091822, rs8124792, and rs6097809 in the CYP24A1 gene, and rs10902845 in C10orf88 had a nominal association with breast cancer risk (P < 0.05 for all). 21828234 2011
dbSNP: rs12570116
rs12570116
Entrez Id: 36
Gene Symbol: ACADSB
ACADSB
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Of the SNPs studied, only rs12570116 in the ACADSB gene, rs4760658 in the VDR gene and rs6091822, rs8124792, and rs6097809 in the CYP24A1 gene, and rs10902845 in C10orf88 had a nominal association with breast cancer risk (P < 0.05 for all). 21828234 2011