rs72621438

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GWAS Catalog Trait Associations (6)

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 G
OR 0.17
p 6.0e-50
N 95,827
Major Consortium StudyLarge 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 C
OR 13.14
p 2.0e-39
N 170,420
Meta-analysisLarge GWAS
multi-ancestry

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 C
OR 0.09
p 2.0e-30
N 104,293
Meta-analysisLarge GWAS
European

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 C
OR 0.07
p 3.0e-30
N 398,816
Major Consortium StudyLarge GWAS
European
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 C
OR 0.13
p 3.0e-29
N 64,268
Meta-analysisMajor Consortium StudyLarge GWAS
European
Boutin TS et al. “Insights into the genetic basis of retinal detachment.” Human Molecular Genetics 29(4):689-702 (2020)
Allele C
OR 1.18
p 2.0e-8
N 50,372
Large 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 G
OR 0.02
p 3.0e-17
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 C
OR 0.04
p 3.0e-11
N 560,675
Major Consortium StudyLarge GWAS
multi-ancestry

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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