rs2920293

This is a regulatory region variant variant.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

peptic ulcer disease

He Y et al. “East Asian-specific and cross-ancestry genome-wide meta-analyses provide mechanistic insights into peptic ulcer disease.” Nature Genetics 55(12):2129-2138 (2023)

Allele G

OR 0.20

p 4.0e-126

N 957,376

Large GWAS

multi-ancestry

gastric carcinoma

Hess T et al. “Dissecting the genetic heterogeneity of gastric cancer.” Ebiomedicine 92:104616 (2023)

Allele G

OR 1.39

p 3.0e-32

N 16,814

Large GWAS

European

cup-to-disc ratio measurement

Alipanahi B et al. “Large-scale machine-learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology.” American Journal of Human Genetics 108(7):1217-1230 (2021)

Allele C

OR 0.02

p 2.0e-9

N 89,579

Large GWAS

European

Springelkamp H et al. “New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.” Human Molecular Genetics 26(2):438-453 (2017)

Allele C

OR 0.01

p 5.0e-9

N 23,899

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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