Variant: rs866982675 

    present in Gene: IQCB1
    present in Chromosome: 3
    Position on Chromosome: 121781790
    Alleles of this Variant: G/A

rs866982675 in IQCB1 gene and Renal dysplasia and retinal aplasia (disorder) PMID 21866095 2011 Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.

PMID 21220633 2011 Four of these have been previously reported in patients with Senior-Loken syndrome (F141del, R461X, H506del, and R489X) and 3 are novel (A111del, E346X, and R455X).