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.

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

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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