rs77311538

This variant is located in the PRSS56 gene.

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GWAS Catalog Trait Associations (1)

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

axial length measurement

Fuse N et al. “Genome-wide Association Study of Axial Length in Population-based Cohorts in Japan: The Tohoku Medical Megabank Organization Eye Study.” Ophthalmology Science 2(1):100113 (2022)

Allele G

OR 0.10

p 2.0e-16

N 33,483

Large GWAS

East Asian

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ClinVar annotation

Benign★★★☆

4 submitters2 publications

Isolated microphthalmia 6; not provided; PRSS56-related disorder

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]

View all PRSS56 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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