rs3858145
This is a regulatory region variant variant.
▶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.
glaucoma
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 0.09
p 3.0e-60
N 609,053
Major Consortium StudyLarge GWAS
multi-ancestry
open-angle glaucoma
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 0.11
p 2.0e-58
N 434,033
Major Consortium StudyLarge GWAS
European
optic disc size trait
Macgregor S et al. “Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.” Human Molecular Genetics 19(13):2716-24 (2010)
Allele A
OR 0.29
p 3.0e-10
N 2,034
Large GWAS
European
optic cup area
Springelkamp H et al. “Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.” Genetic Epidemiology 39(3):207-16 (2015)
Allele G
OR 0.02
p 4.0e-10
N 17,218
Meta-analysisLarge 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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