Variant: rs12021720

present in Gene: DBT present in Chromosome: 1 Position on Chromosome: 100206504 Alleles of this Variant: T/A;C

rs12021720 in DBT gene and Central Nervous System Neoplasms PMID 19578366 2009 Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.

rs12021720 in DBT gene and Glioma PMID 19578366 2009 Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.

rs12021720 in DBT gene and Maple Syrup Urine Disease PMID 9621512 1998 Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.

PMID 1847055 1991 A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34.

PMID 24881969 2014 Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.