rs10773002

This is a downstream gene variant variant in the CDK2AP1 gene.

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GWAS Catalog Trait Associations (1)

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

self reported educational attainment

Lee JJ et al. “Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.” Nature Genetics 50(8):1112-1121 (2018)
Allele A
OR 0.02
p 2.0e-35
N 1,311,438
Large GWAS
European
Okbay A et al. “Genome-wide association study identifies 74 loci associated with educational attainment.” Nature 533(7604):539-42 (2016)
Allele A
OR —
β 0.022
p 8.0e-18
N 405,072
Large GWAS
European

About CDK2AP1

The protein encoded by this gene is a cyclin-dependent kinase 2 (CDK2) -associated protein which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. This protein was found to also interact with DNA polymerase alpha/primase and mediate the phosphorylation of the large p180 subunit, which suggests a regulatory role in DNA replication during the S-phase of the cell cycle. This protein also forms a core subunit of the nucleosome remodeling and histone deacetylation (NURD) complex that epigenetically regulates embryonic stem cell differentiation. This gene thus plays a role in both cell-cycle and epigenetic regulation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]

View all CDK2AP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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