Variant: rs121917773 

    present in Gene: UMOD
    present in Chromosome: 16
    Position on Chromosome: 20348253
    Alleles of this Variant: A/G

rs121917773 in UMOD gene and Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria PMID 17010121 2006 Defective intracellular trafficking of uromodulin mutant isoforms.

PMID 14570709 2003 Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.