Variant: rs187433682 

    present in Gene: TCTN2
    present in Chromosome: 12
    Position on Chromosome: 123694859
    Alleles of this Variant: G/A

rs187433682 in TCTN2 gene and Familial aplasia of the vermis PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.