rs3289

This variant is located in the LPL gene.

GWAS Catalog Trait Associations (5)

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

fatty acid amount

Allele C
OR
p 2.0e-61
N 239,268
Large GWAS
European

triglyceride measurement

Allele C
OR 0.13
p 3.0e-17
N 24,600
Meta-analysisLarge GWAS
Sub-Saharan African
Allele C
OR 0.13
p 1.0e-10
N 14,126
Large GWAS
Sub-Saharan African

high density lipoprotein cholesterol measurement

Allele C
OR 0.10
p 3.0e-11
N 24,616
Meta-analysisLarge GWAS
Sub-Saharan African

ClinVar annotation

Benign★★★
4 submitters2 publications

Hyperlipoproteinemia, type I; not provided

View on ClinVar →

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.

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