rs11045818

This is a synonymous variant in the SLCO1B1 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (2)

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

level of multiple epidermal growth factor-like domains protein 9 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 A

OR 0.12

p 5.0e-67

N 47,745

Large GWAS

European

21-hydroxypregnenolone disulfate measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)

Allele A

OR 0.18

p 2.0e-14

N 8,781

Large GWAS

multi-ancestry

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ClinVar annotation

Likely Benign★★★☆

5 submitters1 publication

Rotor syndrome (HBLRR); SLCO1B1-related disorder

View on ClinVar →

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Research that mentions this SNP (1)

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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

PubMed DOI Metascience 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]