rs138830383

This is a regulatory region variant variant in the TTC12 gene.

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GWAS Catalog Trait Associations (1)

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

transmembrane protease serine 5 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.33

p 3.0e-40

N 47,745

Large GWAS

European

About TTC12

Involved in axonemal dynein complex assembly and sperm axoneme assembly. Located in several cellular components, including centrosome; cytosol; and nuclear membrane. Implicated in acute lymphoblastic leukemia; alcohol dependence; drug dependence (multiple); nicotine dependence; and primary ciliary dyskinesia 45. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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