rs2245601

This variant is located in the CHRND gene.

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GWAS Catalog Trait Associations (1)

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

corneal topography

Fan Q et al. “Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error.” Communications Biology 3(1):133 (2020)
Allele A
OR —
β 0.015
p 1.0e-48
N 44,042
Meta-analysisLarge GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
8 submitters3 publications

not specified; Congenital myasthenic syndrome; Lethal multiple pterygium syndrome; not provided

View on ClinVar →

About CHRND

The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]

View all CHRND variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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