rs268

This is a variant in the LPL gene that changes a asparagine to an serine.

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GWAS Catalog Trait Associations (25)

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

hematocrit

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.22

p 4.0e-272

N 394,642

Large GWAS

European

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 G

OR 0.30

p 7.0e-220

N 325,634

Major Consortium StudyLarge GWAS

multi-ancestry

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)

Allele G

OR 0.24

p 7.0e-137

N 361,194

Large GWAS

European

Bentley AR et al. “Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.” Nature Genetics 51(4):636-648 (2019)

Allele G

OR 0.05

p 3.0e-20

N 133,824

Large GWAS

multi-ancestry

triglyceride measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.21

p 2.0e-197

N 394,642

Large GWAS

European

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)

Allele G

OR 0.24

p 2.0e-146

N 361,194

Large GWAS

European

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele G

OR 0.25

p 6.0e-166

N 355,577

Major Consortium StudyLarge GWAS

multi-ancestry

Bentley AR et al. “Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.” Nature Genetics 51(4):636-648 (2019)

Allele G

OR 0.09

p 5.0e-16

N 111,909

Large GWAS

multi-ancestry

apolipoprotein A 1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.19

p 6.0e-184

N 394,642

Large GWAS

European

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)

Allele G

OR 0.24

p 6.0e-145

N 323,833

Major Consortium StudyLarge GWAS

multi-ancestry

non-alcoholic fatty liver disease

Du M et al. “Cross-trait genomic modeling reveals the polygenic architecture and systemic impact of MASLD.” Science Advances 12(7):eaeb5665 (2026)

Allele A

OR 0.25

p 9.0e-65

N 122,644

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 G

OR 0.09

p 7.0e-30

N 408,112

Large GWAS

European

platelet component distribution width

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.08

p 1.0e-29

N 394,642

Large GWAS

European

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele G

OR 0.07

p 6.0e-16

N 408,112

Large GWAS

European

apolipoprotein B 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 G

OR 0.09

p 8.0e-26

N 354,097

Major Consortium StudyLarge GWAS

multi-ancestry

Red cell distribution width

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele G

OR 0.07

p 3.0e-17

N 408,112

Large GWAS

European

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.06

p 3.0e-16

N 394,642

Large GWAS

European

level of apolipoprotein C-I 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 G

OR 0.15

p 1.0e-14

N 47,745

Large GWAS

European

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ClinVar annotation

Pathogenic★★★☆

21 submitters29 publications

Cardiovascular phenotype; Hyperlipidemia, familial combined, LPL related (FCHL3); Hyperlipidemia, familial combined, susceptibility to; Hyperlipoproteinemia, type I; not specified

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]

rs268

GWAS Catalog Trait Associations (25)

hematocrit

high density lipoprotein cholesterol measurement

triglyceride measurement

apolipoprotein A 1 measurement

non-alcoholic fatty liver disease

erythrocyte volume

platelet component distribution width

apolipoprotein B measurement

Red cell distribution width

level of apolipoprotein C-I in blood

ClinVar annotation

About LPL

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