Variant: rs1555877107 

    present in Gene: COL18A1;SLC19A1
    present in Chromosome: 21
    Position on Chromosome: 45512337
    Alleles of this Variant: -/TGCC

rs1555877107 in COL18A1;SLC19A1 gene and Knobloch Syndrome, Type I PMID 25456301 2014 Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.