Variant: rs200407856 

    present in Gene: CC2D2A
    present in Chromosome: 4
    Position on Chromosome: 15516005
    Alleles of this Variant: G/A

rs200407856 in CC2D2A gene and Familial aplasia of the vermis PMID 19777577 2009 CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

rs200407856 in CC2D2A gene and JOUBERT SYNDROME 9 (disorder) PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

rs200407856 in CC2D2A gene and Meckel-Gruber syndrome PMID 19777577 2009 CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.