rs2721051
This is a regulatory region variant variant.
▶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.
keratoconus
Hardcastle AJ et al. “A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.” Communications Biology 4(1):266 (2021)
Allele T
OR 0.45
p 6.0e-35
N 26,742
Large GWAS
multi-ancestry
central corneal thickness
Bonnemaijer PWM et al. “Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.” Communications Biology 2:435 (2019)
Allele T
OR 5.84
p 4.0e-20
N 16,204
Large GWAS
European
intraocular pressure measurement
Gao XR et al. “Genome-wide association analyses identify new loci influencing intraocular pressure.” Human Molecular Genetics 27(12):2205-2213 (2018)
Allele C
OR 0.19
p 2.0e-16
N 115,486
Large GWAS
European
corneal topography
Lu Y et al. “Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.” Nature Genetics 45(2):155-63 (2013)
Allele T
OR 0.17
p 4.0e-14
N 20,020
Large GWAS
multi-ancestry
corneal hysteresis
Khawaja AP et al. “Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study.” Jama Ophthalmology 137(9):1005-1012 (2019)
Allele T
OR 0.25
p 5.0e-11
N 6,645
Large GWAS
European
corneal resistance factor
Khawaja AP et al. “Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study.” Jama Ophthalmology 137(9):1005-1012 (2019)
Allele T
OR 0.27
p 5.0e-11
N 6,645
Large GWAS
European
eye measurement
Lu Y et al. “Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.” Plos Genetics 6(5):e1000947 (2010)
Allele G
OR 0.24
p 5.0e-10
N 5,980
Large GWAS
European
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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