rs1588366

This is a regulatory region variant variant in the TANC2 gene.

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GWAS Catalog Trait Associations (1)

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

Orofacial cleft

Mukhopadhyay N et al. “Genome-Wide Association Study of Non-syndromic Orofacial Clefts in a Multiethnic Sample of Families and Controls Identifies Novel Regions.” Frontiers in Cell and Developmental Biology 9:621482 (2021)

Allele G

OR 0.24

p 1.0e-8

N 9,447

Large GWAS

multi-ancestry

About TANC2

Predicted to be a structural constituent of postsynaptic density. Predicted to be involved in dense core granule cytoskeletal transport; regulation of dendritic spine development; and regulation of dendritic spine morphogenesis. Predicted to act upstream of or within in utero embryonic development. Located in dendritic spine. Implicated in intellectual developmental disorder with autistic features and language delay, with or without seizures. [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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