rs77466051

This is a intron variant variant in the CPT2 gene.

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GWAS Catalog Trait Associations (1)

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

acylcarnitine measurement

Chai JF et al. “Associations with metabolites in Chinese suggest new metabolic roles in Alzheimer's and Parkinson's diseases.” Human Molecular Genetics 29(2):189-201 (2020)

Allele A

OR 0.09

p 2.0e-18

N 1,954

Large GWAS

East Asian

About CPT2

The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]

View all CPT2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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