rs11045819

This is a variant in the SLCO1B1 gene that changes a proline to an threonine.

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GWAS Catalog Trait Associations (10)

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

fibroblast growth factor receptor 4 level

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.06
p 4.0e-55
N 47,745
Large GWAS
European

valine 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 0.02
p 1.0e-18
N 450,015
Large GWAS
multi-ancestry

amino acid 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 0.02
p 2.0e-16
N 450,015
Large GWAS
multi-ancestry

dipeptidyl peptidase 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 A
OR 0.04
p 2.0e-12
N 47,745
Large GWAS
European

leucine 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 0.02
p 2.0e-12
N 450,015
Large GWAS
multi-ancestry

isoleucine 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 0.02
p 6.0e-12
N 450,015
Large GWAS
multi-ancestry

urate measurement

Gill D et al. “Urate, Blood Pressure, and Cardiovascular Disease: Evidence From Mendelian Randomization and Meta-Analysis of Clinical Trials.” Hypertension (dallas, Tex. : 1979) 77(2):383-392 (2021)
Allele A
OR 0.01
p 2.0e-9
N 454,183
Meta-analysisLarge GWAS
European
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ClinVar annotation

Likely Benign★★★☆
6 submitters1 publication

Rotor syndrome (HBLRR); SLCO1B1-related disorder; not specified

View on ClinVar →
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Research that mentions this SNP (2)

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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
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Frequencies of single nucleotide polymorphisms and haplotypes of organic anion transporting polypeptide 1B1 SLCO1B1 gene in a Finnish population
AssociationN=468Marja K. Pasanen et al.(2006)· European Journal of Clinical Pharmacology

This study established high-throughput genotyping assays for major SNPs in the SLCO1B1 gene and determined their frequencies in 468 Finnish Caucasian subjects. The c.521T>C SNP (Val174Ala) had an allele frequency of 20.2%, and 26 haplotypes were identified, with the most common haplotype (c.571C) occurring at 35.6% frequency. The functionally significant c.521T>C variant existed in four major haplotypes (*16: 7.9%, *17: 6.9%, *5: 2.7%, *15: 2.4%), which are important for understanding OATP1B1-mediated drug pharmacokinetics and response.

Traits studied:Bilirubin levelsDrug pharmacokinetics and responseFexofenadine pharmacokineticsGilbert syndromePitavastatin plasma concentrationsPravastatin plasma concentrationsRepaglinide pharmacokineticsRosuvastatin plasma concentrations
PubMedDOIMetascience Observatory

About SLCO1B1

This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function. [provided by RefSeq, Mar 2009]

View all SLCO1B1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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