rs76119208

This is a regulatory region 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.

Red cell distribution width

Allele T
OR 0.10
p 5.0e-122
N 153,950
Large GWAS
East Asian
Allele T
OR 0.08
p 2.0e-23
N 38,000
Large GWAS
South Asian

diabetic neuropathy

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 G
OR 0.06
p 2.0e-11
N 614,793
Major Consortium StudyLarge GWAS
multi-ancestry

platelet count

Kachuri L et al. Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia. American Journal of Human Genetics 108(10):1823-1835 (2021)
Allele G
OR
p 6.0e-11
N 235,256
Large GWAS
European

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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