rs1580083

This variant is located in the UGT2B15 gene.

GWAS Catalog Trait Associations (7)

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

apolipoprotein A 1 measurement

Allele T
OR 0.02
p 7.0e-23
N 394,642
Large GWAS
European

erythrocyte volume

Allele T
OR 0.02
p 2.0e-20
N 394,642
Large GWAS
European

alkaline phosphatase measurement

Allele T
OR 0.02
p 2.0e-17
N 394,642
Large GWAS
European

total cholesterol measurement

Allele T
OR 0.02
p 1.0e-11
N 394,642
Large GWAS
European

X-21319 measurement

Allele A
OR 0.08
p 1.0e-11
N 14,296
Large GWAS
European

mean corpuscular hemoglobin

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.02
p 2.0e-10
N 408,112
Large GWAS
European

X-11478 measurement

Allele A
OR 0.07
p 6.0e-9
N 14,296
Large GWAS
European

Research that mentions this SNP (1)

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

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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