rs16958445

This is a protein-altering variant in the TBC1D21 gene.

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GWAS Catalog Trait Associations (1)

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

exfoliation syndrome

Nakano M et al. “Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population.” Scientific Reports 4:5340 (2014)

Allele G

OR 5.18

p 2.0e-16

N 898

Small GWAS

East Asian

About TBC1D21

Enables GTPase activator activity and small GTPase binding activity. Predicted to be involved in plasma membrane to endosome transport; sperm axoneme assembly; and sperm mitochondrial sheath assembly. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]

View all TBC1D21 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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