rs9799314

This is a intron variant variant in the IFT80 gene.

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GWAS Catalog Trait Associations (2)

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

clonal hematopoiesis

Wen S et al. “Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.” Nature Genetics 57(3):572-582 (2025)

Allele C

OR 1.14

p 6.0e-24

N 398,696

Major Consortium StudyLarge GWAS

European

glucose measurement

Lagou V et al. “GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification.” Nature Genetics 55(9):1448-1461 (2023)

Allele T

OR 0.00

p 2.0e-9

N 475,416

Large GWAS

multi-ancestry

About IFT80

The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]

View all IFT80 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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