Variant: rs137853115 

    present in Gene: IFT80;TRIM59-IFT80
    present in Chromosome: 3
    Position on Chromosome: 160377485
    Alleles of this Variant: G/C

rs137853115 in IFT80;TRIM59-IFT80 gene and Asphyxiating Thoracic Dystrophy 2 PMID 17468754 2007 IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.