rs13112099

This variant is located in the UGT2B15 gene.

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GWAS Catalog Trait Associations (4)

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

X-15492 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 T
OR 0.12
p 8.0e-34
N 14,296
Large GWAS
European

metabolite 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 T
OR 0.12
p 2.0e-31
N 14,296
Large GWAS
European
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 T
OR 0.21
p 2.0e-16
N 4,893
Large GWAS
European

X-12007 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 T
OR 0.10
p 2.0e-22
N 14,296
Large GWAS
European

testosterone measurement

Harrison S et al. “Testosterone and socioeconomic position: Mendelian randomization in 306,248 men and women in UK Biobank.” Science Advances 7(31) (2021)
Allele G
OR 0.14
p 1.0e-16
N 148,248
Major Consortium StudyLarge GWAS
European
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Research that mentions this SNP (1)

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Allelic imbalance (AI) identifies novel tissue-specificcis-regulatory variation for humanUGT2B15
FunctionalN=112Chang Sun et al.(2010)· Human Mutation

This functional study identifies cis-regulatory variants controlling UGT2B15 expression through allelic imbalance analysis. The coding variant rs1902023 (D85Y) shows allele-specific expression in liver but not breast tissue. Reporter assays confirm that two promoter SNPs (rs34010522 and rs35513228) regulate expression with ~20% activity difference in liver (P<0.001), and ChIP assays show rs34010522 lies within an Nrf2 transcription factor binding site.

Traits studied:Oxazepam glucuronidationUGT2B15 gene expression
PubMedDOIMetascience Observatory

About UGT2B15

This gene encodes a glycosyltransferase that is invovled in the metabolism and elimination of toxic compounts, both endogenous and of xenobiotic origin. This gene plays a role in the regulation of estrogens and androgens. This locus is present in a cluster of similar genes and pseudogenes on chromosome 4. [provided by RefSeq, Aug 2016]

View all UGT2B15 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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