rs4148324

This is a intron variant variant in the UGT1A10 gene.

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GWAS Catalog Trait Associations (5)

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

X-11442 measurement

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele T
OR —
β 0.109
p 5.0e-117
N 7,142
Large GWAS
European

X-11441 measurement

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele T
OR —
β 0.109
p 2.0e-116
N 7,072
Large GWAS
European

X-21796 measurement

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele G
OR 0.17
p 5.0e-28
N 8,130
Large GWAS
European

thyroxine level

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 0.11
p 1.0e-24
N 14,296
Large GWAS
European
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ClinVar annotation

Benign
1 submitter

Gilbert syndrome

View on ClinVar →
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Research that mentions this SNP (1)

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A Genome‐Wide Association Study for Serum Bilirubin Levels and Gene‐Environment Interaction in a Chinese Population
AssociationN=3,294Xiayun Dai et al.(2013)· Genetic Epidemiology

GWAS study of 3,294 European ancestry individuals from the eMERGE Network examining serum bilirubin and other liver function tests. Strong association signal at UGT1A1 locus (rs887829, beta=0.15, p=1.30×10^-118) confirmed in both adult and pediatric populations. Additional associations identified in SLCO1B1, SLCO1B3, TDRP, ZMYND8, and ABO locus. Phenome-wide analysis revealed protective effect of TA7 repeat against cerebrovascular disease (OR=0.75, p=0.0008).

Traits studied:ALTASTAlkaline phosphataseCerebrovascular diseaseGGTLiver function testsSerum bilirubin levels
PubMedDOIMetascience Observatory

About UGT1A10

This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has glucuronidase activity on mycophenolic acid, coumarins, and quinolines. [provided by RefSeq, Jul 2008]

View all UGT1A10 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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