rs17671352

This variant is located in the ACADVL gene.

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GWAS Catalog Trait Associations (1)

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

age-related hearing impairment

Ivarsdottir EV et al. “The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis.” Communications Biology 4(1):706 (2021)
Allele T
OR 1.03
p 9.0e-9
N 713,633
Large GWAS
European
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ClinVar annotation

Benign★★★★
17 submitters3 publications

not specified; Very long chain acyl-CoA dehydrogenase deficiency; not provided; Familial cancer of breast

View on ClinVar →

About ACADVL

The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

View all ACADVL variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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