Variant: rs1114167302 

    present in Gene: MKS1
    present in Chromosome: 17
    Position on Chromosome: 58216687
    Alleles of this Variant: C/A

rs1114167302 in MKS1 gene and Familial aplasia of the vermis PMID 27377014 2016 MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.