rs12694997

This is a regulatory region variant variant in the SEPTIN2 gene.

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GWAS Catalog Trait Associations (1)

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

body height

Lango Allen H et al. “Hundreds of variants clustered in genomic loci and biological pathways affect human height.” Nature 467(7317):832-8 (2010)

Allele A

OR —

β 0.024

p 1.0e-8

N 133,653

Large GWAS

European

About SEPTIN2

Enables identical protein binding activity. Predicted to be involved in several processes, including cilium assembly; cytoskeleton-dependent cytokinesis; and smoothened signaling pathway. Predicted to act upstream of or within regulation of L-glutamate import across plasma membrane and regulation of protein localization. Located in several cellular components, including cytoskeleton; photoreceptor connecting cilium; and sperm annulus. Part of septin complex. [provided by Alliance of Genome Resources, Jul 2025]

View all SEPTIN2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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