rs147464959

This variant is located in the SLC27A5 gene.

▶

GWAS Catalog Trait Associations (2)

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

3b-hydroxy-5-cholenoic acid measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)

Allele G

OR 1.01

p 4.0e-13

N 6,136

Large GWAS

European

7-alpha-hydroxy-3-oxo-4-cholestenoate 7-Hoca measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)

Allele A

OR 0.39

p 2.0e-12

N 14,296

Large GWAS

European

▶

ClinVar annotation

Conflicting Classifications

5 submitters2 publications

not specified; not provided; SLC27A5-related disorder

View on ClinVar →

About SLC27A5

The protein encoded by this gene is an isozyme of very long-chain acyl-CoA synthetase (VLCS). It is capable of activating very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in liver and associated with endoplasmic reticulum but not with peroxisomes. Its primary role is in fatty acid elongation or complex lipid synthesis rather than in degradation. This gene has a mouse ortholog. [provided by RefSeq, Jul 2008]