rs12484901

This is a downstream gene variant variant in the GCAT gene.

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GWAS Catalog Trait Associations (1)

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

renal carcinoma

Purdue MP et al. “Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions.” Nature Genetics 56(5):809-818 (2024)

Allele G

OR 1.08

p 2.0e-10

N 864,690

Large GWAS

multi-ancestry

About GCAT

The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 14. [provided by RefSeq, Jan 2010]

View all GCAT variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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