rs35158437

This is a intron variant variant in the TCTN2 gene.

GWAS Catalog Trait Associations (1)

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

level of tectonic-3 in blood

Allele T
OR 0.10
p 2.0e-109
N 47,745
Large GWAS
European

About TCTN2

This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome type 8. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

View all TCTN2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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