Variant: rs754404879 

    present in Gene: RCOR1
    present in Chromosome: 14
    Position on Chromosome: 102701275
    Alleles of this Variant: C/T

rs754404879 in RCOR1 gene and Familial aplasia of the vermis PMID 26489029 2016 Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.