rs4616688
This is a intron variant variant in the IFT80 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
low density lipoprotein cholesterol measurement
Klimentidis YC et al. “Phenotypic and Genetic Characterization of Lower LDL Cholesterol and Increased Type 2 Diabetes Risk in the UK Biobank.” Diabetes 69(10):2194-2205 (2020)
Allele G
OR 0.01
p 5.0e-13
N 431,167
Major Consortium StudyLarge GWAS
European
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 T
OR 1.13
p 3.0e-30
N 406,826
Major Consortium StudyLarge GWAS
European
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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