Variant: rs387907101 

    present in Gene: IMPAD1
    present in Chromosome: 8
    Position on Chromosome: 56980056
    Alleles of this Variant: C/T

rs387907101 in IMPAD1 gene and CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE PMID 21549340 2011 Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.