rs10468017

This is a intron variant variant.

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GWAS Catalog Trait Associations (135)

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

cholesteryl esters in 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 T
OR 0.09
p —
N 450,015
Large GWAS
multi-ancestry

concentration of very small VLDL particles

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.18
p —
N 203,300
Large GWAS
European

HDL cholesterol change measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.10
p —
N 450,015
Large GWAS
multi-ancestry

phospholipids in very small VLDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.19
p —
N 203,300
Large GWAS
European

total lipids in very small VLDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.19
p —
N 203,300
Large GWAS
European

triglycerides in very small VLDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.21
p —
N 203,300
Large GWAS
European

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 T
OR 0.14
p 9.9e-324
N 578,125
Major Consortium StudyLarge GWAS
multi-ancestry
Hoffmann TJ et al. “A large electronic-health-record-based genome-wide study of serum lipids.” Nature Genetics 50(3):401-413 (2018)
Allele T
OR —
β 0.087
p 3.0e-96
N 94,674
Large GWAS
multi-ancestry
Kathiresan S et al. “Common variants at 30 loci contribute to polygenic dyslipidemia.” Nature Genetics 41(1):56-65 (2009)
Allele T
OR 0.10
p 8.0e-23
N 19,840
Large GWAS
European
Middelberg RP et al. “Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.” Bmc Medical Genetics 12:123 (2011)
Allele T
OR 0.10
p 3.0e-12
N 11,683
Large GWAS
European

cholesterol in medium 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 T
OR 0.08
p 2.0e-318
N 450,015
Large GWAS
multi-ancestry
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Research that mentions this SNP (3)

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Single-Nucleotide Polymorphisms Associated With Age-Related Macular Degeneration and Lesion Phenotypes in the Comparison of Age-Related Macular Degeneration Treatments Trials
AssociationN=835Maureen G. Maguire et al.(2016)· JAMA Ophthalmology

Cross-sectional study of 835 CATT participants with neovascular AMD genotyped for SNPs in CFH, ARMS2, C3, LIPC, CFB, and C2. ARMS2 risk alleles were associated with larger total lesions (p=0.03) and increased intraretinal fluid (p=0.008); C3 risk alleles were associated with decreased intraretinal fluid (p=0.001) and retinal thickness (p=0.02); CFH risk alleles were associated with decreased total thickness (p=0.01).

Traits studied:Age-related macular degenerationChoroidal neovascularization phenotypesNeovascular AMDRetinal angiomatous proliferation
PubMedDOIMetascience Observatory
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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
PubMedDOIMetascience Observatory
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TGFB1 as a Susceptibility Gene for High Myopia
AssociationN=431Zha Y. et al.(2009)· Archives of Ophthalmology

This case-control study evaluated 10 AMD-associated SNPs in 4 genes (CFI, COL8A1, LIPC, APOE) and their association with choroidal neovascularization in highly myopic Spanish Caucasian patients (147 mCNV, 103 HM without CNV, 181 controls). SNPs rs13095226 and rs669676 in COL8A1 showed significant associations in univariate analysis (OR=2.0 and 2.4 respectively), but lost significance after Bonferroni correction. Meta-analysis of rs669676 confirmed association with myopic CNV. Only age and hypertension remained significant in multivariate analysis.

Traits studied:Age-related macular degenerationChoroidal neovascularizationHigh myopiaMyopic choroidal neovascularization
PubMedDOIMetascience Observatory

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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