rs1481012

This is a intron variant variant in the ABCG2 gene.

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GWAS Catalog Trait Associations (16)

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

urate measurement

Tin A et al. “Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.” Nature Genetics 51(10):1459-1474 (2019)
Allele A
OR 0.25
p —
N 288,649
Large GWAS
European

drug use measurement, gout

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 A
OR 0.58
p 9.9e-324
N 315,668
Major Consortium StudyLarge GWAS
European

gout

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 A
OR 0.54
p 9.9e-324
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry
Major TJ et al. “A genome-wide association analysis reveals new pathogenic pathways in gout.” Nature Genetics 56(11):2392-2406 (2024)
Allele A
OR 0.74
p 2.0e-9
N 137,949
Large GWAS
Hispanic or Latin American
Köttgen A et al. “Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.” Nature Genetics 45(2):145-54 (2013)
Allele A
OR 0.55
p 2.0e-32
N 69,374
Large GWAS
European
Jeon HK et al. “Single-nucleotide polymorphisms link gout with health-related lifestyle factors in Korean cohorts.” Plos One 18(12):e0295038 (2023)
Allele A
OR —
p 2.0e-11
N 18,927
Large GWAS
East Asian

3,5-dichloro-2,6-dihydroxybenzoic acid measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele G
OR 0.48
p 3.0e-42
N 6,136
Large GWAS
European

3-bromo-5-chloro-2,6-dihydroxybenzoic acid measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele G
OR 0.49
p 2.0e-26
N 2,416
Large GWAS
multi-ancestry
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele G
OR 0.25
p 2.0e-15
N 3,022
Large GWAS
European

hyperuricemia

Kim EY et al. “A genome-wide study on gene-nutrient interactions for hyperuricemia in a large Korean cohort (KoGES).” Scientific Reports 15(1):30626 (2025)
Allele G
OR 1.48
p 2.0e-24
N 27,486
Large GWAS
East Asian

HbA1c measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.03
p 4.0e-19
N 394,642
Large GWAS
European

tea consumption measurement

Said MA et al. “Associations of Observational and Genetically Determined Caffeine Intake With Coronary Artery Disease and Diabetes Mellitus.” Journal of the American Heart Association 9(24):e016808 (2020)
Allele A
OR 0.03
p 2.0e-13
N 395,866
Large GWAS
European

X-12026 measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 0.12
p 3.0e-13
N 14,296
Large GWAS
European

body mass index

Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)
Allele A
OR 0.02
p 5.0e-13
N 806,834
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (2)

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NPT1/SLC17A1 Is a Renal Urate Exporter in Humans and Its Common Gain‐of‐Function Variant Decreases the Risk of Renal Underexcretion Gout
AssociationN=3,103Toshinori Chiba et al.(2015)· Arthritis &amp; Rheumatology

This replication study analyzed 2255 variants in LD with GWAS-identified gout/serum urate susceptibility loci in 1255 Han Chinese gout patients and 1848 controls. Twenty-three variants (41%) showed nominal association (p<0.05), with the strongest signal at ABCG2 rs1481012 (p=8.96×10⁻¹¹, OR=1.890). Previous gout-associated loci including ABCG2, SLC2A9, GCKR, ALDH2, and CNIH2 were replicated, while cumulative genetic risk scores showed that individuals with ≥8 risk alleles had significantly increased gout risk (OR=16.361 for ≥12 alleles).

Traits studied:GoutSerum urate concentrations
PubMedDOIMetascience Observatory
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Association between gout and polymorphisms in GCKR in male Han Chinese
AssociationN=3,103Jing Wang et al.(2012)· Human Genetics

This replication study examined 2,255 variants in linkage disequilibrium with GWAS-identified gout/urate susceptibility loci in 1,255 Han Chinese gout patients and 1,848 controls. Twenty-three variants (41% of 56 LD-pruned variants) showed nominal association with gout (p < 0.05), with the strongest signals at ABCG2 (rs1481012, OR=1.890, p=8.96×10⁻¹¹) and SLC2A9 (rs11722228, OR=1.619, p=2.40×10⁻⁶). Cumulative genetic risk score analysis demonstrated increasing gout risk with growing numbers of risk alleles (OR=16.361 for ≥12 alleles vs ≤5 reference).

Traits studied:GoutSerum urate levels
PubMedDOIMetascience Observatory

About ABCG2

The membrane-associated protein encoded by this gene is included in 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. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

View all ABCG2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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