rs2130392

This variant is located in the CENPU gene.

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GWAS Catalog Trait Associations (1)

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

mucocutaneous lymph node syndrome

Onouchi Y et al. “A genome-wide association study identifies three new risk loci for Kawasaki disease.” Nature Genetics 44(5):517-21 (2012)

Allele A

OR 1.42

p 3.0e-8

N 3,807

Large GWAS

multi-ancestry

About CENPU

The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). MLF1IP, or CENPU, is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]

View all CENPU variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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