rs2573210

This variant is located in the PRSS56 gene.

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GWAS Catalog Trait Associations (3)

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

Myopia

Boutin TS et al. “Insights into the genetic basis of retinal detachment.” Human Molecular Genetics 29(4):689-702 (2020)

Allele G

OR 1.30

p 4.0e-16

N 50,372

Large GWAS

European

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 0.15

p 9.0e-16

N 66,127

Meta-analysisLarge GWAS

multi-ancestry

refractive error, self reported educational attainment

Fan Q et al. “Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error.” Nature Communications 7:11008 (2016)

Allele A

OR —

p 3.0e-10

N 50,351

Meta-analysisLarge GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

About PRSS56

This gene encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease activity. The encoded protein may play a role in eye development, and mutations in this gene are a cause of autosomal recessive posterior microphthalmos. [provided by RefSeq, Dec 2011]