Variant: rs116647652 

    present in Gene: TMEM67
    present in Chromosome: 8
    Position on Chromosome: 93786285
    Alleles of this Variant: C/A;T

rs116647652 in TMEM67 gene and JOUBERT SYNDROME 6 PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.