rs3208305
This variant is located in the LPL gene.
▶GWAS Catalog Trait Associations (13)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (13)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
familial lipoprotein lipase deficiency
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.27
p 3.0e-129
N 620,120
Major Consortium StudyLarge GWAS
multi-ancestry
depressive symptom measurement, non-high density lipoprotein cholesterol measurement
Bentley AR et al. “Multi-ancestry genome-wide association analyses incorporating SNP-by-psychosocial interactions identify novel loci for serum lipids.” Translational Psychiatry 15(1):207 (2025)
Allele A
OR —
β 0.003
p 7.0e-111
N 133,157
Large GWAS
multi-ancestry
hyperlipidemia
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.07
p 5.0e-41
N 602,872
Major Consortium StudyLarge GWAS
multi-ancestry
Hypercholesterolemia
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.05
p 9.0e-25
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry
level of serum paraoxonase/lactonase 3 in blood
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 0.05
p 8.0e-22
N 47,745
Large GWAS
European
coronary artery disease
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.05
p 4.0e-20
N 589,715
Major Consortium StudyLarge GWAS
multi-ancestry
CD4 molecule amount
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 0.05
p 1.0e-14
N 47,745
Large GWAS
European
erythrocyte volume
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.02
p 3.0e-14
N 408,112
Large GWAS
European
angina pectoris
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.05
p 2.0e-11
N 600,697
Major Consortium StudyLarge GWAS
multi-ancestry
high density lipoprotein cholesterol measurement
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.10
p 1.0e-114
N 113,085
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean
Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele A
OR 0.08
p 3.0e-66
N 99,432
Large GWAS
African American or Afro-Caribbean, African unspecified
▶ClinVar annotation
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…