rs56131903

This is a intron variant variant in the TRIM71 gene.

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GWAS Catalog Trait Associations (1)

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

cup-to-disc ratio measurement

Craig JE et al. “Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression.” Nature Genetics 52(2):160-166 (2020)

Allele A

OR —

β 0.007

p 6.0e-14

N 90,939

Large GWAS

European

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 A

OR 0.01

p 4.0e-18

N 65,680

Large GWAS

European

About TRIM71

The protein encoded by this gene is an E3 ubiquitin-protein ligase that binds with miRNAs and maintains the growth and upkeep of embryonic stem cells. This gene also is involved in the G1-S phase transition of the cell cycle. [provided by RefSeq, Dec 2015]

View all TRIM71 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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