rs112087793

This is a regulatory region variant variant in the STMN3 gene.

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GWAS Catalog Trait Associations (1)

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

idiopathic pulmonary fibrosis

Allen RJ et al. “Genome-wide association study across five cohorts identifies five novel loci associated with idiopathic pulmonary fibrosis.” Thorax 77(8):829-833 (2022)

Allele C

OR 1.34

p 1.0e-8

N 24,589

Large GWAS

European

About STMN3

This gene encodes a protein which is a member of the stathmin protein family. Members of this protein family form a complex with tubulins at a ratio of 2 tubulins for each stathmin protein. Microtubules require the ordered assembly of alpha- and beta-tubulins, and formation of a complex with stathmin disrupts microtubule formation and function. A pseudogene of this gene is located on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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