rs2027274

This is a intron variant variant in the CLIC5 gene.

GWAS Catalog Trait Associations (1)

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

open-angle glaucoma

Allele A
OR 0.05
p 3.0e-11
N 432,017
Large GWAS
multi-ancestry

About CLIC5

This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may play a role in multiple processes including hair cell stereocilia formation, myoblast proliferation and glomerular podocyte and endothelial cell maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

View all CLIC5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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