Variant: rs200335504 

    present in Gene: IFT81
    present in Chromosome: 12
    Position on Chromosome: 110192683
    Alleles of this Variant: C/T

rs200335504 in IFT81 gene and SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY PMID 27666822 2016 Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.