rs116552003

This is a intron variant variant in the NR1H4 gene.

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GWAS Catalog Trait Associations (2)

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

total cholesterol measurement

Kamiza AB et al. “Multi-trait discovery and fine-mapping of lipid loci in 125,000 individuals of African ancestry.” Nature Communications 14(1):5403 (2023)
Allele A
OR 0.05
p 2.0e-12
N 125,000
Large GWAS
African American or Afro-Caribbean, Sub-Saharan African, African unspecified
Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele A
OR 0.06
p 2.0e-8
N 99,432
Large GWAS
African American or Afro-Caribbean, African unspecified

high density lipoprotein cholesterol measurement

Kamiza AB et al. “Multi-trait discovery and fine-mapping of lipid loci in 125,000 individuals of African ancestry.” Nature Communications 14(1):5403 (2023)
Allele A
OR 0.03
p 3.0e-9
N 125,000
Large GWAS
African American or Afro-Caribbean, Sub-Saharan African, African unspecified

About NR1H4

This gene encodes a ligand-activated transcription factor that shares structural features in common with nuclear hormone receptor family members. This protein functions as a receptor for bile acids, and when bound to bile acids, binds to DNA and regulates the expression of genes involved in bile acid synthesis and transport. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]

View all NR1H4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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