rs1550094
This variant is located in the PRSS56 gene.
▶GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
refractive error
Han X et al. “Association of Myopia and Intraocular Pressure With Retinal Detachment in European Descent Participants of the UK Biobank Cohort: A Mendelian Randomization Study.” Jama Ophthalmology 138(6):671-678 (2020)
Allele A
OR 0.19
p 2.0e-61
N 95,827
Major Consortium StudyLarge GWAS
European
Clark R et al. “Education interacts with genetic variants near GJD2, RBFOX1, LAMA2, KCNQ5 and LRRC4C to confer susceptibility to myopia.” Plos Genetics 18(11):e1010478 (2022)
Allele A
OR —
β 0.196
p 2.0e-47
N 88,334
Large GWAS
European
Guggenheim JA et al. “Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia.” Human Molecular Genetics 31(11):1909-1919 (2022)
Allele A
OR 0.07
p 1.0e-24
N 51,624
Large GWAS
European
refractive error, age at onset, Myopia
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 12.74
p 4.0e-37
N 170,420
Meta-analysisLarge GWAS
multi-ancestry
Myopia
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.07
p 2.0e-30
N 562,050
Major Consortium StudyLarge GWAS
multi-ancestry
Xue Z et al. “Genome-wide association meta-analysis of 88,250 individuals highlights pleiotropic mechanisms of five ocular diseases in UK Biobank.” Ebiomedicine 82:104161 (2022)
Allele G
OR 0.13
p 1.0e-25
N 64,268
Meta-analysisMajor Consortium StudyLarge GWAS
European
age at onset, Myopia
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 0.09
p 6.0e-30
N 104,293
Meta-analysisLarge GWAS
European
age at onset, eye measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.02
p 2.0e-24
N 394,642
Large GWAS
European
Hypermetropia
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.04
p 2.0e-13
N 394,687
Major Consortium StudyLarge GWAS
European
optic disc size trait
Han X et al. “Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology.” Human Molecular Genetics 28(21):3680-3690 (2019)
Allele A
OR —
β 0.010
p 5.0e-13
N 67,040
Large GWAS
European
▶ClinVar annotation
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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