rs7287486

This variant is located in the CENPM gene.

GWAS Catalog Trait Associations (2)

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

total blood protein measurement

Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.06
p 5.0e-17
N 448,242
Large GWAS
multi-ancestry
Allele T
OR 0.05
p 6.0e-14
N 394,642
Large GWAS
European

blood protein amount

Sinnott-Armstrong N et al. Genetics of 35 blood and urine biomarkers in the UK Biobank. Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.06
p 1.0e-13
N 325,292
Major Consortium StudyLarge GWAS
multi-ancestry

About CENPM

The protein encoded by this gene is an inner protein of the kinetochore, the multi-protein complex that binds spindle microtubules to regulate chromosome segregation during cell division. It belongs to the constitutive centromere-associated network protein group, whose members interact with outer kinetochore proteins and help to maintain centromere identity at each cell division cycle. The protein is structurally related to GTPases but cannot bind guanosine triphosphate. A point mutation that affects interaction with another constitutive centromere-associated network protein, CENP-I, impairs kinetochore assembly and chromosome alignment, suggesting that it is required for kinetochore formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

View all CENPM variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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