rs17321515

This is a regulatory region variant variant.

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GWAS Catalog Trait Associations (12)

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

triglycerides: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 0.07
p 1.0e-65
N 136,016
Large GWAS
multi-ancestry

cholesterol to total lipids in large VLDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.02
p 5.0e-25
N 450,015
Large GWAS
multi-ancestry

triglyceride measurement

Kulminski AM et al. “Quantitative and Qualitative Role of Antagonistic Heterogeneity in Genetics of Blood Lipids.” The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences 75(10):1811-1819 (2020)
Allele G
OR 6.12
p 4.0e-20
N 29,902
Large GWAS
European
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 G
OR 6.42
p 7.0e-13
N 8,684
Large GWAS
European
Kathiresan S et al. “Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.” Nature Genetics 40(2):189-197 (2008)
Allele G
OR 0.08
p 4.0e-17
N 2,758
Large GWAS
European

protein CEI measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.12
p 3.0e-19
N 10,708
Large GWAS
European

non-alcoholic fatty liver disease

Fairfield CJ et al. “Genome-Wide Association Study of NAFLD Using Electronic Health Records.” Hepatology Communications 6(2):297-308 (2022)
Allele G
OR 0.86
p 1.0e-16
N 377,988
Large GWAS
European

total cholesterol measurement

Kulminski AM et al. “Quantitative and Qualitative Role of Antagonistic Heterogeneity in Genetics of Blood Lipids.” The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences 75(10):1811-1819 (2020)
Allele G
OR 2.44
p 1.0e-15
N 29,902
Large GWAS
European
Li D et al. “Progressive effects of single-nucleotide polymorphisms on 16 phenotypic traits based on longitudinal data.” Genes & Genomics 42(4):393-403 (2020)
Allele G
OR 2.78
p 4.0e-9
N 6,840
Large GWAS
East Asian

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele A
OR 0.02
p 7.0e-13
N 472,730
Large GWAS
East Asian

low density lipoprotein cholesterol measurement

Kulminski AM et al. “Quantitative and Qualitative Role of Antagonistic Heterogeneity in Genetics of Blood Lipids.” The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences 75(10):1811-1819 (2020)
Allele G
OR 1.95
p 5.0e-12
N 29,902
Large GWAS
European

phospholipids:total lipids ratio, blood VLDL cholesterol amount

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.03
p 3.0e-11
N 126,671
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Limited use of interleukin 28B in the setting of response-guided treatment with detailed on-treatment virological monitoring
ReviewAlessandra Mangia et al.(2011)· Hepatology

This is a special issue of the Italian medical journal BeAdfiles (September 2012) dedicated to genetic conditioning in HIV and hepatitis virus infections. It reviews the major genetic polymorphisms that influence disease progression, treatment response, and drug toxicity in HIV and chronic hepatitis B and C infections, with particular emphasis on IL28B polymorphisms (rs809917 and others) predicting HCV treatment response to interferon-alpha and ribavirin therapy, and ITPA gene variants protecting against ribavirin-induced anemia. The issue also covers pharmacogenetic markers (CYP2B6, ABCB1, HLA-B*5701) and their clinical applications in antiretroviral therapy.

Traits studied:AIDS progressionAntiretroviral therapy toxicityChronic hepatitis C sustained virological responseCreutzfeldt-Jakob diseaseDyslipidemiaEfavirenz side effectsHIV infection and progressionHepatitis B virus infectionHepatitis C genotype 1 response to interferonHepatitis C virus infectionHyperbilirubinemiaLeprosyLipodystrophyNeisseria meningitidis infectionNorovirus diarrheaPlasmodium falciparum malariaPlasmodium vivax malariaRenal impairmentRibavirin-induced anemiaTreatment response to interferon and ribavirinTuberculosis
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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