rs4073054

This is a downstream gene variant variant in the NR1I3 gene.

GWAS Catalog Trait Associations (4)

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

triglycerides in large HDL measurement

Zoodsma M et al. A genetic map of human metabolism across the allele frequency spectrum. Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.03
p 3.0e-53
N 450,015
Large GWAS
multi-ancestry

X-10395 measurement

Shin SY et al. An atlas of genetic influences on human blood metabolites. Nature Genetics 46(6):543-550 (2014)
Allele A
OR 0.02
p 4.0e-19
N 7,784
Large GWAS
European

triglycerides in large LDL measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele A
OR 0.03
p 7.0e-10
N 136,016
Large GWAS
multi-ancestry

triglyceride measurement, low density lipoprotein cholesterol measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele A
OR 0.03
p 1.0e-9
N 136,016
Large GWAS
multi-ancestry

About NR1I3

This gene encodes a member of the nuclear receptor superfamily, and is a key regulator of xenobiotic and endobiotic metabolism. The protein binds to DNA as a monomer or a heterodimer with the retinoid X receptor and regulates the transcription of target genes involved in drug metabolism and bilirubin clearance, such as cytochrome P450 family members. Unlike most nuclear receptors, this transcriptional regulator is constitutively active in the absence of ligand but is regulated by both agonists and inverse agonists. Ligand binding results in translocation of this protein to the nucleus, where it activates or represses target gene transcription. These ligands include bilirubin, a variety of foreign compounds, steroid hormones, and prescription drugs. In addition to drug metabolism, the CAR protein is also reported to regulate genes involved in glucose metabolism, lipid metabolism, cell proliferation, and circadian clock regulation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2020]

View all NR1I3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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