rs238763

This is a upstream gene variant variant in the NUP133 gene.

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GWAS Catalog Trait Associations (4)

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

diabetes mellitus, Drugs used in diabetes use 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 T
OR 0.05
p 9.0e-14
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

type 2 diabetes mellitus

Spracklen CN et al. “Identification of type 2 diabetes loci in 433,540 East Asian individuals.” Nature 582(7811):240-245 (2020)
Allele T
OR 1.05
p 5.0e-11
N 433,540
Large GWAS
East Asian

diabetes mellitus

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 T
OR 0.05
p 6.0e-14
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

HbA1c 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 T
OR 0.03
p 4.0e-26
N 338,640
Major Consortium StudyLarge GWAS
European

About NUP133

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. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. [provided by RefSeq, Jul 2008]

View all NUP133 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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