rs7696472

This is a upstream gene variant variant in the UGT2B15 gene.

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GWAS Catalog Trait Associations (5)

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

testosterone measurement

Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele A
OR 0.04
p 2.0e-39
N 194,453
Large GWAS
European
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 A
OR 0.14
p 2.0e-16
N 148,248
Major Consortium StudyLarge GWAS
European

vanillylmandelate (VMA) 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 A
OR 0.22
p 2.0e-26
N 6,136
Large GWAS
European

X-13729 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 0.07
p 1.0e-11
N 14,296
Large GWAS
European

hypogonadism

Pagadala MS et al. “Discovery of novel ancestry specific genes for androgens and hypogonadism in Million Veteran Program Men.” Nature Communications 16(1):4104 (2025)
Allele G
OR 0.05
p 2.0e-8
N 145,389
Major Consortium StudyLarge GWAS
multi-ancestry

sex hormone-binding globulin measurement

Haas CB et al. “Cross-ancestry Genome-wide Association Studies of Sex Hormone Concentrations in Pre- and Postmenopausal Women.” Endocrinology 163(4) (2022)
Allele A
OR 0.02
p 2.0e-9
N 196,901
Large GWAS
European
Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele A
OR 0.01
p 5.0e-8
N 188,908
Large 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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