rs301

This is a intron variant variant in the LPL gene.

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GWAS Catalog Trait Associations (11)

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

triglyceride measurement

Huang QQ et al. “Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals.” Nature Communications 13(1):4664 (2022)
Allele C
OR 0.16
p 9.0e-27
N 22,000
Large GWAS
South Asian
Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele C
OR 0.11
p 1.0e-10
N 13,814
Large GWAS
European

metabolic syndrome

Kraja AT et al. “A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.” Diabetes 60(4):1329-39 (2011)
Allele C
OR 0.22
p 3.0e-11
N 22,161
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
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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