rs1044864

This variant is located in the ANAPC1 gene.

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GWAS Catalog Trait Associations (2)

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

corneal hysteresis

Simcoe MJ et al. “Genome-wide association study of corneal biomechanical properties identifies over 200 loci providing insight into the genetic etiology of ocular diseases.” Human Molecular Genetics 29(18):3154-3164 (2020)

Allele G

OR 0.24

p 6.0e-206

N 106,041

Large GWAS

European

intraocular pressure measurement

Khawaja AP et al. “Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.” Nature Genetics 50(6):778-782 (2018)

Allele G

OR 0.21

p 2.0e-33

N 139,555

Large GWAS

European

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

Rothmund-Thomson syndrome type 1; not provided

View on ClinVar →

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]