rs201128688

This is a splice region variant variant in the ANAPC1 gene.

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GWAS Catalog Trait Associations (1)

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

hemoglobin measurement

Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)

Allele T

OR —

β 0.015

p 2.0e-9

N 684,122

Large GWAS

European

About ANAPC1

This gene encodes a subunit of the anaphase-promoting complex. This complex is an E3 ubiquitin ligase that regulates progression through the metaphase to anaphase portion of the cell cycle by ubiquitinating proteins which targets them for degradation. [provided by RefSeq, Dec 2011]

View all ANAPC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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