rs2079742

This is a downstream gene variant variant in the BCAS3 gene.

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GWAS Catalog Trait Associations (4)

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

urolithiasis

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 0.13
p 6.0e-17
N 178,726
Large GWAS
East Asian
Ishigaki K et al. “Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.” Nature Genetics 52(7):669-679 (2020)
Allele C
OR 0.86
p 9.0e-15
N 212,453
Large GWAS
East Asian
Tanikawa C et al. “Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population.” Journal of the American Society of Nephrology : Jasn 30(5):855-864 (2019)
Allele C
OR 1.14
p 3.0e-16
N 198,769
Large GWAS
East Asian

nephrolithiasis

Cao X et al. “Trans-ancestry GWAS identifies 59 loci and improves risk prediction and fine-mapping for kidney stone disease.” Nature Communications 16(1):3473 (2025)
Allele T
OR 1.11
p 1.0e-14
N 255,171
Large GWAS
East Asian

serum creatinine amount

Kettunen J et al. “Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA.” Nature Communications 7:11122 (2016)
Allele C
OR 0.10
p 9.0e-14
N 24,810
Large GWAS
European

urate measurement

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 T
OR 0.04
p 1.0e-8
N 110,347
Large GWAS
European
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Research that mentions this SNP (1)

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The frequency of single nucleotide polymorphisms and their association with uric acid concentration based on data from genome-wide association studies in the Korean population
AssociationN=2,359Chang-Nam Son et al.(2014)· Rheumatology International

A two-part genetic association study in Korean populations examining SNP associations with serum uric acid (SUA) concentration. Study 1 compared minor allele frequencies of 40 SNPs associated with SUA across Korean, Japanese, and European descent populations in 1,957 subjects. Study 2 analyzed associations in 402 RA patients, finding rs12734001 (PPP1R12B) most significantly associated with SUA levels (P_trend = 2.29 × 10^-9) and rs3741414 (INHBC) with P_trend = 0.01. Results showed Korean SNP frequencies were more similar to Japanese than European populations.

Traits studied:gouthyperuricemiaserum uric acid concentration
PubMedDOIMetascience Observatory

About BCAS3

Enables several functions, including acetyltransferase activator activity; beta-tubulin binding activity; and histone acetyltransferase binding activity. Involved in cellular response to estrogen stimulus; positive regulation of catalytic activity; and positive regulation of transcription by RNA polymerase II. Located in euchromatin; nucleus; and phagophore assembly site. Implicated in Hengel-Maroofian-Schols syndrome. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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