rs261342

This variant is located in the LIPC gene.

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GWAS Catalog Trait Associations (40)

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

cholesteryl esters to total lipids in large VLDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.14
p —
N 241,027
Large GWAS
European

sphingomyelin measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.12
p 9.0e-286
N 241,027
Large GWAS
European

triglycerides to total lipids in large HDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.09
p 3.0e-175
N 241,027
Large GWAS
European

free cholesterol to total lipids in large 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 C
OR 0.05
p 9.0e-98
N 450,015
Large GWAS
multi-ancestry

blood VLDL cholesterol amount

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele G
OR 0.08
p 2.0e-62
N 115,082
Large GWAS
European
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Research that mentions this SNP (1)

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A Genome-Wide Assessment of Variability in Human Serum Metabolism
AssociationN=891Mun-Gwan Hong et al.(2013)· Human Mutation

A genome-wide association study (GWAS) of serum metabolic quantitative trait loci (mQTLs) in 891 Swedish men identified seven replicating loci (PYROXD2, FADS1, PON1, CYP4F2, UGT1A8, ACADL, and LIPC) with variants showing significant associations with metabolite levels (P = 10^-13 to 10^-91). rs4345897:A>G in PYROXD2 showed the strongest association with caprolactam (P = 2.40 × 10^-91), while rs174549:A>G in FADS1 associated with glycerolphosphocholine (P = 1.91 × 10^-30). Pathway analysis implicated genes with acyl-CoA dehydrogenase activity (ACADS, ACADM, ACAD8, ACAD10, ACAD11, ACOXL) and mQTL SNPs were enriched across GWAS catalog regions.

Traits studied:BilirubinButyrylcarnitineCaprolactamDimethylheptanoylcarnitineGlycerolphosphocholineGlycochenodeoxycholic acidHexanoylcarnitineSerum metabolitesStearoylcarnitine
PubMedDOIMetascience Observatory

About LIPC

Enables phospholipase A1 activity and triacylglycerol lipase activity. Involved in several processes, including cholesterol homeostasis; plasma lipoprotein particle remodeling; and triglyceride catabolic process. Located in extracellular space. Implicated in several diseases, including Alzheimer's disease; coronary artery disease; familial combined hyperlipidemia; peripheral vascular disease; and type 2 diabetes mellitus. Biomarker of hyperinsulinism; obesity; and type 1 diabetes mellitus. [provided by Alliance of Genome Resources, Jul 2025]

View all LIPC variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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