rs291466

This variant is located in the HIBCH gene.

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GWAS Catalog Trait Associations (2)

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

protein measurement

Western D et al. “Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.” Nature Genetics 56(12):2672-2684 (2024)

Allele A

OR 0.56

p 1.0e-137

N 3,506

Large GWAS

European

methylmalonate (MMA) measurement

Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)

Allele G

OR 0.34

p 6.0e-58

N 3,901

Large GWAS

European

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ClinVar annotation

Benign★★★☆

5 submitters2 publications

not specified; not provided; 3-hydroxyisobutyryl-CoA hydrolase deficiency

View on ClinVar →

About HIBCH

This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]