rs3835100

This variant is located in the PBLD gene.

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GWAS Catalog Trait Associations (1)

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

optic disc size trait

Han X et al. “Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology.” Human Molecular Genetics 28(21):3680-3690 (2019)

Allele A

OR —

β 0.080

p 1.0e-56

N 67,040

Large GWAS

European

About PBLD

Enables identical protein binding activity. Involved in maintenance of gastrointestinal epithelium. Acts upstream of or within with a positive effect on negative regulation of transforming growth factor beta receptor signaling pathway. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

View all PBLD variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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