rs12700823

This is a intron variant variant in the HIBADH 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, 3-hydroxyisobutyrate 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 0.03

p 3.0e-22

N 2,602

Large GWAS

European

About HIBADH

This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase enzyme. The encoded protein plays a critical role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate to methylmalonate semialdehyde. [provided by RefSeq, Nov 2011]

View all HIBADH variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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