Variant: rs750436680 

    present in Gene: B9D2;TGFB1
    present in Chromosome: 19
    Position on Chromosome: 41354765
    Alleles of this Variant: C/T

rs750436680 in B9D2;TGFB1 gene and Familial aplasia of the vermis PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs750436680 in B9D2;TGFB1 gene and MECKEL SYNDROME, TYPE 10 PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.