rs6742078

This is a intron variant variant in the UGT1A10 gene.

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GWAS Catalog Trait Associations (10)

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

bilirubin measurement

Johnson AD et al. “Genome-wide association meta-analysis for total serum bilirubin levels.” Human Molecular Genetics 18(14):2700-10 (2009)
Allele T
OR 0.23
p 4.9e-324
N 9,464
Meta-analysis
Other
Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele T
OR 0.39
p 9.0e-135
N 8,252
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 0.44
p 4.0e-195
N 4,959
Large GWAS
European
Jeon S et al. “Korea4K: whole genome sequences of 4,157 Koreans with 107 phenotypes derived from extensive health check-ups.” Gigascience 13 (2024)
Allele T
OR 0.53
p 4.0e-28
N 1,974
Large GWAS
East Asian

UDP-glucuronosyltransferase 1-6 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.24
p 6.0e-69
N 10,708
Large GWAS
European

Abnormality of the liver

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.07
p 1.0e-21
N 605,234
Major Consortium StudyLarge GWAS
multi-ancestry

low density lipoprotein cholesterol measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.02
p 2.0e-15
N 578,955
Major Consortium StudyLarge GWAS
multi-ancestry

aldosterone level

Montasser ME et al. “An Amish founder population reveals rare-population genetic determinants of the human lipidome.” Communications Biology 5(1):334 (2022)
Allele T
OR 0.32
p 2.0e-8
N 650
Small GWAS
European

trait in response to atorvastatin

Mykkänen AJH et al. “Genome-Wide Association Study of Atorvastatin Pharmacokinetics: Associations With SLCO1B1, UGT1A3, and LPP.” Clinical Pharmacology and Therapeutics 115(6):1428-1440 (2024)
Allele T
OR 0.31
p 4.0e-8
N 158
Small GWAS
European

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele T
OR 0.19
p 1.0e-19
N 5,367
Large GWAS
European

smoking status measurement, bilirubin measurement

Namba S et al. “A cross-population compendium of gene-environment interactions.” Nature 651(8106):688-697 (2026)
Allele T
OR 0.02
p 1.0e-12
N 249,376
Large GWAS
European
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ClinVar annotation

Association
2 submitters1 publication

Bilirubin, serum level of, quantitative trait locus 1 (BILIQTL1); Gilbert syndrome

View on ClinVar →
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Research that mentions this SNP (2)

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Extreme Bilirubin Levels as a Causal Risk Factor for Symptomatic Gallstone Disease
AssociationN=3,824Stefan Stender et al.(2013)· JAMA Internal Medicine

This prospective cohort study of 3,824 participants from the PREVEND study demonstrates that elevated circulating total bilirubin is inversely associated with incident non-alcoholic fatty liver disease (NAFLD) using two biomarker indices (FLI: OR=0.82 per 1 SD log-bilirubin, p=0.001; HSI: OR=0.87, p=0.012). However, Mendelian randomization analysis using rs6742078 (UGT1A1) as an instrumental variable found no evidence of a causal association (OR=0.98 for FLI, OR=1.14 for HSI), suggesting the observational association may be driven by confounding or reverse causation rather than a true causal effect.

Traits studied:NAFLDNon-alcoholic fatty liver disease
PubMedDOIMetascience Observatory
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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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