rs156265

This variant is located in the ACAA1 gene.

GWAS Catalog Trait Associations (1)

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

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

Allele G
OR 0.12
p 2.0e-45
N 47,745
Large GWAS
European

ClinVar annotation

Benign★★★
3 submitters1 publication

not provided; ACAA1-related disorder

View on ClinVar →

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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