rs13702

This is a 3 prime utr variant variant in the LPL gene.

GWAS Catalog Trait Associations (43)

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

free cholesterol in very large HDL 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 0.08
p 8.0e-146
N 241,027
Large GWAS
European

apolipoprotein B to apolipoprotein A1 ratio

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 0.06
p 2.0e-140
N 450,015
Large GWAS
multi-ancestry
Allele C
OR 0.07
p 1.0e-47
N 88,329
Large GWAS
European

phospholipids:total lipids ratio

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 7.0e-93
N 450,015
Large GWAS
multi-ancestry
Allele C
OR 0.05
p 3.0e-23
N 87,620
Large GWAS
European

concentration of small LDL 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 C
OR 0.03
p 4.0e-49
N 450,015
Large GWAS
multi-ancestry

low-density lipoprotein receptor measurement

Allele C
OR 0.08
p 3.0e-48
N 47,745
Large GWAS
European

apolipoprotein B measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 6.0e-23
N 450,015
Large GWAS
multi-ancestry

cholesteryl esters in small LDL 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 0.03
p 4.0e-37
N 450,015
Large GWAS
multi-ancestry

total lipids in very small VLDL measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.06
p 1.0e-36
N 136,016
Large GWAS
multi-ancestry

free cholesterol 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 0.03
p 3.0e-36
N 450,015
Large GWAS
multi-ancestry
Allele C
OR 0.04
p 1.0e-12
N 88,321
Large GWAS
European

ClinVar annotation

Association★★★
5 submitters3 publications

High density lipoprotein cholesterol level quantitative trait locus 11 (HDLCQ11); Hyperlipoproteinemia, type I

View on ClinVar →

Research that mentions this SNP (2)

The association of common polymorphisms in miR-196a2 with waist to hip ratio and miR-1908 with serum lipid and glucose
AssociationN=73,014Mohsen Ghanbari et al.(2015)· Obesity

Two miRNA genetic variants were identified as significantly associated with cardiometabolic phenotypes: rs11614913 in miR-196a2 associated with waist-to-hip ratio (P=1.7e-25), and rs174561 in miR-1908 associated with lipid and glucose traits. Functional analyses revealed these variants affect pre-miRNA processing and regulate target genes involved in fat distribution and lipid metabolism.

Traits studied:HDL-cholesterolLDL-cholesterolblood pressurebody mass indexcardiometabolic phenotypesfasting glucosetotal cholesteroltriglycerideswaist-to-hip ratio
The effects of aMAP2K5microRNA target site SNP on risk for anxiety and depressive disorders
AssociationN=6,725Kevin P. Jensen et al.(2014)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This study identified rs41305272, a predicted miR-330-3p target site SNP in MAP2K5, as associated with anxiety and depressive disorders in 6,725 European-American and African-American subjects. The T-allele was significantly associated with agoraphobia (OR=2.22, p=0.0004 combined sample), panic disorder (OR=1.95, p=0.002), and major depressive disorder (OR=1.48, p=0.01). The rs41305272 SNP is in linkage disequilibrium with a restless legs syndrome GWAS variant and showed pathway enrichment for nervous system development genes.

Traits studied:AgoraphobiaGeneralized Anxiety DisorderMajor Depressive DisorderObsessive-Compulsive DisorderPanic DisorderPost-Traumatic Stress DisorderRestless Legs SyndromeSocial Phobia

About LPL

LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. [provided by RefSeq, Jul 2008]

View all LPL 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…