rs2076435

This variant is located in the IFT140 gene.

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GWAS Catalog Trait Associations (1)

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

Inguinal hernia

Choquet H et al. “Ancestry- and sex-specific effects underlying inguinal hernia susceptibility identified in a multiethnic genome-wide association study meta-analysis.” Human Molecular Genetics 31(13):2279-2293 (2022)

Allele T

OR 0.94

p 2.0e-9

N 513,120

Meta-analysisLarge GWAS

multi-ancestry

About IFT140

This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease. [provided by RefSeq, Jun 2012]

View all IFT140 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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