rs9392348

This is a intron variant variant in the GMDS gene.

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GWAS Catalog Trait Associations (1)

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

open-angle glaucoma

Choquet H et al. “A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.” Nature Communications 9(1):2278 (2018)

Allele G

OR 1.11

p 2.0e-10

N 240,302

Large GWAS

multi-ancestry

About GMDS

GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the first step in the synthesis of GDP-fucose from GDP-mannose, using NADP+ as a cofactor. The second and third steps of the pathway are catalyzed by a single enzyme, GDP-keto-6-deoxymannose 3,5-epimerase, 4-reductase, designated FX in humans (MIM 137020).[supplied by OMIM, Aug 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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