rs2229528

This is a protein-altering variant in the ACAA1 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 G

OR 1.09

p 3.0e-67

N 2,721

Large GWAS

European

level of 3-ketoacyl-CoA thiolase, peroxisomal in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.12

p 4.0e-15

N 47,745

Large GWAS

European

About ACAA1

This gene encodes an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

View all ACAA1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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