rs118204057

This is a variant in the LPL gene that changes a glycine to an glutamate.

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GWAS Catalog Trait Associations (3)

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

high density lipoprotein cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.91
p 9.0e-57
N 325,634
Major Consortium StudyLarge GWAS
multi-ancestry

apolipoprotein A 1 measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.75
p 6.0e-39
N 323,833
Major Consortium StudyLarge GWAS
multi-ancestry

triglyceride measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.69
p 3.0e-36
N 355,577
Major Consortium StudyLarge GWAS
multi-ancestry
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ClinVar annotation

Pathogenic★★★☆
22 submitters38 publications

Cardiovascular phenotype; Hyperlipidemia, familial combined, LPL related (FCHL3); Hyperlipoproteinemia, type I; LPL-related disorder

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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