Variant: rs138081429 

    present in Gene: TRIM59-IFT80;IFT80
    present in Chromosome: 3
    Position on Chromosome: 160319848
    Alleles of this Variant: T/C

rs138081429 in TRIM59-IFT80;IFT80 gene and Asphyxiating Thoracic Dystrophy 2 PMID 19610081 2009 Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients.

PMID 17468754 2007 IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.