Variant: rs150291837

present in Gene: C2CD3 present in Chromosome: 11 Position on Chromosome: 74049431 Alleles of this Variant: C/T

rs150291837 in C2CD3 gene and Familial aplasia of the vermis PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.