rs4938174
This is a upstream gene variant variant.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
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 A
OR 0.03
p 2.0e-13
N 123,734
Major Consortium StudyLarge 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 A
OR 0.05
p 7.0e-9
N 76,029
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 A
OR 1.79
p 1.0e-12
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 A
OR 2.26
p 4.0e-10
N 25,910
Large GWAS
multi-ancestry
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 A
OR 0.06
p 4.0e-9
N 20,020
Large 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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