rs2290203

This is a intron variant variant in the PRC1 gene.

GWAS Catalog Trait Associations (3)

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

type 2 diabetes mellitus

Allele G
OR 0.05
p 2.0e-31
N 1,407,282
Meta-analysisLarge GWAS
multi-ancestry
Allele G
OR 1.05
p 3.0e-10
N 210,865
Large GWAS
East Asian
Allele G
OR 1.06
p 2.0e-10
N 191,764
Large GWAS
East Asian
Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.06
p 3.0e-11
N 177,415
Large GWAS
East Asian

breast carcinoma

Allele G
OR 1.06
p 2.0e-19
N 277,932
Large GWAS
multi-ancestry
Michailidou K et al. Association analysis identifies 65 new breast cancer risk loci. Nature 551(7678):92-94 (2017)
Allele G
OR 1.06
p 8.0e-10
N 139,274
Large GWAS
multi-ancestry
Allele G
OR 1.08
p 4.0e-8
N 9,450
Large GWAS
multi-ancestry

Drugs used in diabetes use measurement

Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.06
p 6.0e-11
N 178,726
Large GWAS
East Asian

About PRC1

This gene encodes a protein that is involved in cytokinesis. The protein is present at high levels during the S and G2/M phases of mitosis but its levels drop dramatically when the cell exits mitosis and enters the G1 phase. It is located in the nucleus during interphase, becomes associated with mitotic spindles in a highly dynamic manner during mitosis, and localizes to the cell mid-body during cytokinesis. This protein has been shown to be a substrate of several cyclin-dependent kinases (CDKs). It is necessary for polarizing parallel microtubules and concentrating the factors responsible for contractile ring assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

View all PRC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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