rs11195952

This variant is located in the ACSL5 gene.

GWAS Catalog Trait Associations (11)

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

VLDL particle size

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.03
p 9.0e-22
N 450,015
Large GWAS
multi-ancestry

cholesteryl esters to total lipids in small LDL percentage

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.03
p 9.0e-18
N 450,015
Large GWAS
multi-ancestry

free cholesterol in chylomicrons and extremely large VLDL measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 2.0e-15
N 450,015
Large GWAS
multi-ancestry

concentration of chylomicrons and extremely large VLDL particles measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 3.0e-15
N 450,015
Large GWAS
multi-ancestry

omega-6 polyunsaturated fatty acid measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 3.0e-15
N 450,015
Large GWAS
multi-ancestry

cholesterol in chylomicrons and extremely large VLDL measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 4.0e-15
N 450,015
Large GWAS
multi-ancestry

phospholipids in chylomicrons and extremely large VLDL measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 5.0e-15
N 450,015
Large GWAS
multi-ancestry

total lipids in small LDL

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 2.0e-14
N 450,015
Large GWAS
multi-ancestry

free cholesterol to total lipids in small LDL percentage

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 2.0e-12
N 450,015
Large GWAS
multi-ancestry

About ACSL5

The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in uterus and spleen, and in trace amounts in normal brain, but has markedly increased levels in malignant gliomas. This gene functions in mediating fatty acid-induced glioma cell growth. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all ACSL5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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