rs56009602
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
corneal resistance factor
He W et al. “Association of Novel Loci With Keratoconus Susceptibility in a Multitrait Genome-Wide Association Study of the UK Biobank Database and Canadian Longitudinal Study on Aging.” Jama Ophthalmology 140(6):568-576 (2022)
Allele T
OR 0.14
p 4.0e-58
N 123,734
Major Consortium StudyLarge GWAS
European
Simcoe MJ et al. “Genome-wide association study of corneal biomechanical properties identifies over 200 loci providing insight into the genetic etiology of ocular diseases.” Human Molecular Genetics 29(18):3154-3164 (2020)
Allele T
OR 0.26
p 5.0e-54
N 106,030
Large GWAS
European
Jiang X et al. “Fine-mapping and cell-specific enrichment at corneal resistance factor loci prioritize candidate causal regulatory variants.” Communications Biology 3(1):762 (2020)
Allele T
OR 0.26
p 3.0e-36
N 76,029
Large GWAS
European
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 0.38
p 3.0e-9
N 6,645
Large GWAS
European
central corneal thickness
He W et al. “Association of Novel Loci With Keratoconus Susceptibility in a Multitrait Genome-Wide Association Study of the UK Biobank Database and Canadian Longitudinal Study on Aging.” Jama Ophthalmology 140(6):568-576 (2022)
Allele T
OR 8.04
p 2.0e-49
N 17,803
Major Consortium StudyLarge GWAS
European
Iglesias AI et al. “Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.” Nature Communications 9(1):1864 (2018)
Allele T
OR 7.05
p 1.0e-26
N 25,910
Large GWAS
multi-ancestry
corneal hysteresis
Simcoe MJ et al. “Genome-wide association study of corneal biomechanical properties identifies over 200 loci providing insight into the genetic etiology of ocular diseases.” Human Molecular Genetics 29(18):3154-3164 (2020)
Allele C
OR 0.18
p 6.0e-30
N 106,041
Large GWAS
European
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 C
OR 0.34
p 4.0e-9
N 6,645
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 0.32
p 4.0e-25
N 115,486
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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