rs12021720

This is a protein-altering variant in the DBT gene.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

isoleucine measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.03
p 3.0e-22
N 450,015
Large GWAS
multi-ancestry

amino acid measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.03
p 1.0e-21
N 450,015
Large GWAS
multi-ancestry

valine measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.03
p 2.0e-14
N 450,015
Large GWAS
multi-ancestry
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ClinVar annotation

Likely Benign★★★☆
12 submitters3 publications

Maple syrup urine disease (MSUD); Maple syrup urine disease type 1A (MSUD1A); not specified

View on ClinVar →

About DBT

The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

View all DBT variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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