rs524952

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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 T
OR 0.24
p 1.0e-104
N 95,827
Major Consortium StudyLarge GWAS
European
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 T
OR 0.16
p 2.0e-27
N 66,127
Meta-analysisLarge GWAS
multi-ancestry

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 17.07
p 2.0e-65
N 170,420
Meta-analysisLarge GWAS
multi-ancestry

Myopia

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 A
OR 0.16
p 6.0e-47
N 64,268
Meta-analysisMajor Consortium StudyLarge GWAS
European
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 A
OR 0.07
p 8.0e-35
N 398,816
Major 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 0.10
p 5.0e-45
N 104,293
Meta-analysisLarge 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 T
OR 0.07
p 4.0e-32
N 560,675
Major Consortium StudyLarge 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 0.16
p 1.0e-15
N 45,758
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium
Meta-analysisN=55,177Verhoeven VJ et al.(2012)· Human Genetics

This large-scale international meta-analysis of 55,177 individuals from the CREAM consortium confirms the association of chromosome 15q14 locus with myopia. The top SNP rs634990 showed highly significant association (P = 9.20 × 10⁻²³), with homozygous risk allele carriers having OR 1.88 (95% CI 1.64-2.16) for myopia versus hyperopia, and heterozygous carriers having OR 1.33 (95% CI 1.19-1.49). All 14 SNPs at 15q14 replicated significantly in both Caucasians (P = 3.87 × 10⁻¹²) and Asians (P = 2.21 × 10⁻³), while SNPs at 15q25 did not replicate (P = 5.81 × 10⁻²).

Traits studied:High hyperopiaHigh myopiaMyopiaRefractive errorSpherical equivalent
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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