rs3764261
This is a upstream gene variant variant.
▶GWAS Catalog Trait Associations (95)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (95)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
cholesterol in very large HDL measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.21
p —
N 241,027
Large GWAS
European
cholesterol to total lipids in small LDL percentage
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.09
p —
N 450,015
Large GWAS
multi-ancestry
cholesterol to total lipids in very large HDL percentage
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.12
p —
N 241,027
Large GWAS
European
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele A
OR 0.08
p 6.0e-64
N 88,307
Large GWAS
European
cholesteryl ester measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.22
p —
N 241,027
Large GWAS
European
concentration of very large HDL particles measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.22
p —
N 241,027
Large GWAS
European
free cholesterol in very large HDL measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.17
p —
N 241,027
Large GWAS
European
free cholesterol to total lipids in small HDL percentage
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.17
p —
N 241,027
Large GWAS
European
high density lipoprotein cholesterol measurement
Willer CJ et al. “Discovery and refinement of loci associated with lipid levels.” Nature Genetics 45(11):1274-1283 (2013)
Allele A
OR 0.24
p —
N 94,595
Large GWAS
European
Kamiza AB et al. “Multi-trait discovery and fine-mapping of lipid loci in 125,000 individuals of African ancestry.” Nature Communications 14(1):5403 (2023)
Allele A
OR 0.07
p 1.0e-169
N 125,000
Large GWAS
African American or Afro-Caribbean, Sub-Saharan African, African unspecified
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele A
OR 0.15
p 2.0e-306
N 115,082
Large GWAS
European
Teslovich TM et al. “Biological, clinical and population relevance of 95 loci for blood lipids.” Nature 466(7307):707-713 (2010)
Allele A
OR 3.39
p —
N 99,900
Large GWAS
European
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele A
OR 0.21
p 1.0e-300
N 94,674
Large GWAS
multi-ancestry
Jacobs BM et al. “Genetic architecture of routinely acquired blood tests in a British South Asian cohort.” Nature Communications 15(1):8929 (2024)
Allele A
OR 0.26
p 1.0e-271
N 38,000
Large GWAS
South Asian
Nagy R et al. “Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.” Genome Medicine 9(1):23 (2017)
Allele A
OR 0.27
p 1.0e-113
N 26,086
Major Consortium StudyLarge GWAS
European
Spracklen CN et al. “Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.” Human Molecular Genetics 26(9):1770-1784 (2017)
Allele A
OR 0.23
p 1.0e-29
N 25,169
Large GWAS
East Asian
Kuusisto S et al. “Genetic and observational evidence: No independent role for cholesterol efflux over static high-density lipoprotein concentration measures in coronary heart disease risk assessment.” Journal of Internal Medicine 292(1):146-153 (2022)
Allele A
OR 0.25
p 8.0e-103
N 20,372
Large GWAS
European
Kamatani Y et al. “Genome-wide association study of hematological and biochemical traits in a Japanese population.” Nature Genetics 42(3):210-5 (2010)
Allele A
OR 0.25
p 5.0e-29
N 14,402
Large GWAS
East Asian
Willer CJ et al. “Newly identified loci that influence lipid concentrations and risk of coronary artery disease.” Nature Genetics 40(2):161-9 (2008)
Allele A
OR 3.47
p 2.0e-57
N 8,656
Large GWAS
European
Lu X et al. “Genetic Susceptibility to Lipid Levels and Lipid Change Over Time and Risk of Incident Hyperlipidemia in Chinese Populations.” Circulation. Cardiovascular Genetics 9(1):37-44 (2016)
Allele A
OR 3.35
p 2.0e-97
N 8,344
Large GWAS
East Asian
Lettre G et al. “Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.” Plos Genetics 7(2):e1001300 (2011)
Allele A
OR 0.20
p 9.0e-18
N 7,813
Large GWAS
African American or Afro-Caribbean
Sabatti C et al. “Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.” Nature Genetics 41(1):35-46 (2009)
Allele A
OR 0.09
p 7.0e-29
N 4,763
Large GWAS
European
Liao YH et al. “Functional Haplotype of LIPC Induces Triglyceride-Mediated Suppression of HDL-C Levels According to Genome-Wide Association Studies.” Genes 12(2) (2021)
Allele A
OR —
β 0.032
p 3.0e-27
N 4,000
Large GWAS
East Asian
Zhou L et al. “A genome wide association study identifies common variants associated with lipid levels in the Chinese population.” Plos One 8(12):e82420 (2013)
Allele A
OR 0.06
p 2.0e-25
N 3,451
Large GWAS
East Asian
Kurano M et al. “Genome-wide association study of serum lipids confirms previously reported associations as well as new associations of common SNPs within PCSK7 gene with triglyceride.” Journal of Human Genetics 61(5):427-33 (2016)
Allele A
OR 0.32
p 1.0e-16
N 2,994
Large GWAS
East Asian
Bandesh K et al. “Genome-wide association study of blood lipids in Indians confirms universality of established variants.” Journal of Human Genetics 64(6):573-587 (2019)
Allele A
OR 3.18
p 7.0e-43
N 1,036
Large GWAS
multi-ancestry
Hiura Y et al. “Identification of genetic markers associated with high-density lipoprotein-cholesterol by genome-wide screening in a Japanese population: the Suita study.” Circulation Journal : Official Journal of the Japanese Circulation Society 73(6):1119-26 (2009)
Allele A
OR 6.20
p 3.0e-12
N 900
Small GWAS
East Asian
total lipids in very large HDL measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.21
p —
N 241,027
Large GWAS
European
cholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurement
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.16
p 8.0e-303
N 136,016
Large GWAS
multi-ancestry
▶ClinVar annotation
not_provided
1 submitter▶Research that mentions this SNP (2)
▶The Relationship Between Hepatic Lipase Gene Variant and Advanced Age-Related Macular DegenerationAssociationN=472Li-Xia Lou et al.(2014)· JAMA Ophthalmology
The Relationship Between Hepatic Lipase Gene Variant and Advanced Age-Related Macular Degeneration
AssociationN=472Li-Xia Lou et al.(2014)· JAMA Ophthalmology
Prospective cohort study of 472 elderly French participants (mean age 81.9 years) from the ALIENOR study examining incident reticular pseudodrusen (RPD). Annual incidence was 2.047% with estimated 5-year cumulative incidence of 9.73%. Risk factors identified in multivariate analysis included ARMS2 rs10490924 (HR 3.36, p=0.0009), LIPC rs10468017 (HR 2.65, p=0.0029), and thinner choroidal thickness (HR 1.06, p=0.0085). Liposoluble statin medication was protective (HR 0.18, p=0.0448).
Traits studied:age-related macular degenerationreticular pseudodrusen
▶Serum vitamins A and E as modifiers of lipid trait genetics in the National Health and Nutrition Examination Surveys as part of the Population Architecture using Genomics and Epidemiology (PAGE) studyAssociationN=5,576Logan Dumitrescu et al.(2012)· Human Genetics
Serum vitamins A and E as modifiers of lipid trait genetics in the National Health and Nutrition Examination Surveys as part of the Population Architecture using Genomics and Epidemiology (PAGE) study
AssociationN=5,576Logan Dumitrescu et al.(2012)· Human Genetics
This study investigated gene-environment interactions between 23 GWAS-identified lipid-associated SNPs and serum vitamins A and E in the National Health and Nutrition Examination Surveys (NHANES), including 5,576 participants across three racial/ethnic groups. Nine significant interactions were identified, with the most significant being APOB rs693×vitamin E associated with LDL-C in Mexican Americans (p=8.94×10⁻⁷). These nine interactions explained only 0.35-1.28% of variation in lipid traits, suggesting that gene-environment interactions account for modest proportions of the missing heritability in lipid metabolism.
Traits studied:HDL-C (High-Density Lipoprotein Cholesterol)LDL-C (Low-Density Lipoprotein Cholesterol)Triglycerides
This variant is in our database but has no known associations or PRS memberships yet.
Gene information from NCBI Gene. Variant classifications from ClinVar.
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