rs11887534

This is a protein-altering variant in the ABCG5 gene.

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GWAS Catalog Trait Associations (88)

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

gallstones

Fairfield CJ et al. “Genome-wide analysis identifies gallstone-susceptibility loci including genes regulating gastrointestinal motility.” Hepatology (baltimore, Md.) 75(5):1081-1094 (2022)
Allele C
OR 2.07
p —
N 550,437
Large GWAS
European
Joshi AD et al. “Four Susceptibility Loci for Gallstone Disease Identified in a Meta-analysis of Genome-Wide Association Studies.” Gastroenterology 151(2):351-363.e28 (2016)
Allele C
OR 1.78
p 2.0e-75
N 63,872
Meta-analysisLarge GWAS
multi-ancestry
Bustos BI et al. “Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry.” Scientific Reports 9(1):772 (2019)
Allele C
OR 1.74
p 3.0e-8
N 1,095
Large GWAS
multi-ancestry
Buch S et al. “A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.” Nature Genetics 39(8):995-9 (2007)
Allele C
OR 2.20
p 1.0e-14
N 640
Small GWAS
multi-ancestry

cholelithiasis

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.75
p 1.0e-176
N 394,626
Large GWAS
European
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 C
OR 0.41
p 7.0e-18
N 445,402
Major Consortium StudyLarge GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.77
p 8.0e-15
N 177,558
Large GWAS
East Asian

cholesteryl esters in medium 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 C
OR 0.06
p 1.0e-50
N 450,015
Large GWAS
multi-ancestry

intermediate density lipoprotein measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.06
p 2.0e-50
N 450,015
Large GWAS
multi-ancestry

free cholesterol in large LDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.06
p 3.0e-49
N 450,015
Large GWAS
multi-ancestry

free cholesterol in IDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.06
p 4.0e-49
N 450,015
Large GWAS
multi-ancestry

cholesterol in IDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.06
p 6.0e-49
N 450,015
Large GWAS
multi-ancestry

phospholipids in IDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.06
p 3.0e-48
N 450,015
Large GWAS
multi-ancestry

free cholesterol in LDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.06
p 5.0e-48
N 450,015
Large GWAS
multi-ancestry

cholesteryl esters in IDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.06
p 1.0e-47
N 450,015
Large GWAS
multi-ancestry
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ClinVar annotation

Pathogenic★★★☆
16 submitters7 publications

ABCG8-related disorder; Cardiovascular phenotype; Gallbladder disease 4 (GBD4); Sitosterolemia (STSL); Sitosterolemia 1; Sitosterolemia 2; not specified

View on ClinVar →
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Research that mentions this SNP (1)

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Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment
ReviewJürgen Brockmöller et al.(2008)· European Journal of Clinical Pharmacology

This comprehensive review article traces the evolution of pharmacogenetics from single-gene analysis to whole-genome approaches. It discusses validated pharmacogenetic biomarkers with clinical impact including CYP2D6, CYP2C9, CYP2C19, TPMT, DPD, VKORC1, UGT1A1, and ADRB1/ADRB2, providing examples of how genetic variants affect drug metabolism and response. The paper emphasizes the importance of integrating pharmacogenetic information into clinical practice and drug development.

Traits studied:5-fluorouracil toxicityanticoagulant responseantidepressant responseasthmaatrial fibrillationbeta-blocker responsebreast cancerclopidogrel responsecolorectal cancerdrug metabolismdrug responsehypertensionirinotecan toxicitylung cancerproton pump inhibitor metabolismrheumatoid arthritisthiopurine toxicitythrombosis risktype 2 diabeteswarfarin sensitivity
PubMedDOIMetascience Observatory

About ABCG5

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]

View all ABCG5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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