rs71352704

This is a regulatory region variant variant in the BCAT2 gene.

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GWAS Catalog Trait Associations (1)

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

cerebrospinal fluid composition attribute, xylonate measurement, arabonate measurement

Wang C et al. “Genetic architecture of cerebrospinal fluid and brain metabolite levels and the genetic colocalization of metabolites with human traits.” Nature Genetics 56(12):2685-2695 (2024)

Allele A

OR 0.06

p 8.0e-12

N 2,602

Large GWAS

European

About BCAT2

This gene encodes a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

View all BCAT2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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