Variant: rs587777079 

    present in Gene: IFT172
    present in Chromosome: 2
    Position on Chromosome: 27447544
    Alleles of this Variant: G/A

rs587777079 in IFT172 gene and Familial aplasia of the vermis PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs587777079 in IFT172 gene and SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY PMID 24140113 2013 Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.