rs295

This is a intron variant variant in the LPL gene.

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GWAS Catalog Trait Associations (20)

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

anxiety 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 0.006

p 9.0e-38

N 112,536

Large GWAS

multi-ancestry

phospholipid level, blood VLDL cholesterol amount

Li-Gao R et al. “Genetic Studies of Metabolomics Change After a Liquid Meal Illuminate Novel Pathways for Glucose and Lipid Metabolism.” Diabetes 70(12):2932-2946 (2021)

Allele C

OR 0.22

p 3.0e-18

Large GWAS

remnant cholesterol measurement, blood VLDL cholesterol amount

Li-Gao R et al. “Genetic Studies of Metabolomics Change After a Liquid Meal Illuminate Novel Pathways for Glucose and Lipid Metabolism.” Diabetes 70(12):2932-2946 (2021)

Allele C

OR 0.22

p 4.0e-18

Large GWAS

esterified cholesterol measurement, blood VLDL cholesterol amount

Li-Gao R et al. “Genetic Studies of Metabolomics Change After a Liquid Meal Illuminate Novel Pathways for Glucose and Lipid Metabolism.” Diabetes 70(12):2932-2946 (2021)

Allele C

OR 0.21

p 1.0e-17

Large GWAS

total cholesterol measurement, blood VLDL cholesterol amount

Li-Gao R et al. “Genetic Studies of Metabolomics Change After a Liquid Meal Illuminate Novel Pathways for Glucose and Lipid Metabolism.” Diabetes 70(12):2932-2946 (2021)

Allele C

OR 0.21

p 2.0e-17

Large GWAS

glycoprotein measurement

Li-Gao R et al. “Genetic Studies of Metabolomics Change After a Liquid Meal Illuminate Novel Pathways for Glucose and Lipid Metabolism.” Diabetes 70(12):2932-2946 (2021)

Allele C

OR 0.21

p 2.0e-16

Large GWAS

diacylglycerol 36:3 measurement

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 0.09

p 5.0e-13

N 13,814

Large GWAS

European

apolipoprotein B measurement

Li-Gao R et al. “Genetic Studies of Metabolomics Change After a Liquid Meal Illuminate Novel Pathways for Glucose and Lipid Metabolism.” Diabetes 70(12):2932-2946 (2021)

Allele C

OR 0.17

p 3.0e-12

Large GWAS

diacylglycerol 34:2 measurement

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 0.08

p 7.0e-12

N 13,814

Large GWAS

European

eosinophil count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele C

OR 0.02

p 1.0e-11

N 474,237

Large GWAS

European

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]

rs295

GWAS Catalog Trait Associations (20)

anxiety measurement, non-high density lipoprotein cholesterol measurement

phospholipid level, blood VLDL cholesterol amount

remnant cholesterol measurement, blood VLDL cholesterol amount

esterified cholesterol measurement, blood VLDL cholesterol amount

total cholesterol measurement, blood VLDL cholesterol amount

glycoprotein measurement

diacylglycerol 36:3 measurement

apolipoprotein B measurement

diacylglycerol 34:2 measurement

eosinophil count

About LPL

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