rs150396451
This is a intron variant variant in the ACOT7 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
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 0.14
p 3.0e-8
N 1,954
Large GWAS
East Asian
About ACOT7
This gene encodes a member of the acyl coenzyme family. The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA and other long-chain fatty acids. Decreased expression of this gene may be associated with mesial temporal lobe epilepsy. Alternatively spliced transcript variants encoding distinct isoforms with different subcellular locations have been characterized. [provided by RefSeq, Jul 2008]
View all ACOT7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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