rs113298164

This is a variant in the LIPC gene that changes a threonine to an methionine.

▶

GWAS Catalog Trait Associations (91)

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

1-palmitoyl-2-arachidonoyl-GPE (16:0/20:4) 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 T
OR 1.02
p 4.0e-42
N 6,136
Large GWAS
European

apolipoprotein A 1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.27
p 7.0e-40
N 394,642
Large GWAS
European
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele T
OR 0.32
p 1.0e-13
N 115,082
Large GWAS
European

HDL particle size

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele C
OR 0.52
p 2.0e-36
N 115,082
Large GWAS
European

level of Phosphatidylethanolamine (16:0_20:4) in blood serum

Tabassum R et al. “Lipidome- and Genome-Wide Study to Understand Sex Differences in Circulatory Lipids.” Journal of the American Heart Association 11(19):e027103 (2022)
Allele T
OR 1.10
p 8.0e-36
N 4,642
Large GWAS
European

1-oleoyl-2-docosahexaenoyl-GPE (18:1/22:6) 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 T
OR 0.99
p 7.0e-35
N 6,136
Large GWAS
European

1-palmitoyl-2-linoleoyl-GPE (16:0/18:2) 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 T
OR 0.93
p 5.0e-34
N 6,136
Large GWAS
European
▶

ClinVar annotation

Pathogenic★★★☆
12 submitters15 publications

High density lipoprotein cholesterol level quantitative trait locus 12 (HDLCQ12); Hyperlipidemia due to hepatic triglyceride lipase deficiency; Type 1 diabetes mellitus 2; Type 2 diabetes mellitus; not specified

View on ClinVar →

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…