rs61750814

This is a protein-altering variant in the NUP54 gene.

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GWAS Catalog Trait Associations (2)

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

smoking initiation

Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)
Allele C
OR 0.01
p 6.0e-13
N 3,382,012
Large GWAS
European, East Asian, Hispanic or Latin American, African unspecified

age at first birth measurement

Mills MC et al. “Identification of 371 genetic variants for age at first sex and birth linked to externalising behaviour.” Nature Human Behaviour 5(12):1717-1730 (2021)
Allele T
OR 0.08
p 6.0e-10
N 542,901
Large GWAS
European

About NUP54

The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. This gene encodes a member of the phe-gly (FG) repeat-containing nucleoporin subset. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]

View all NUP54 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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