rs2969180

This variant is located in the SHISA6 gene.

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GWAS Catalog Trait Associations (2)

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

refractive error

Tedja MS et al. “Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.” Nature Genetics 50(6):834-848 (2018)
Allele A
OR 0.10
p 1.0e-12
N 66,127
Meta-analysisLarge GWAS
multi-ancestry

Abnormality of refraction

Verhoeven VJ et al. “Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.” Nature Genetics 45(3):314-8 (2013)
Allele A
OR 0.10
p 7.0e-11
N 45,758
Large GWAS
multi-ancestry

About SHISA6

Predicted to enable ionotropic glutamate receptor binding activity. Predicted to be involved in several processes, including excitatory chemical synaptic transmission; modulation of chemical synaptic transmission; and negative regulation of canonical Wnt signaling pathway. Predicted to be located in asymmetric, glutamatergic, excitatory synapse. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in dendritic spine membrane; glutamatergic synapse; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Apr 2025]

View all SHISA6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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