Variant: rs1057516043 

    present in Gene: CHRDL1
    present in Chromosome: X
    Position on Chromosome: 110719855
    Alleles of this Variant: -/A

rs1057516043 in CHRDL1 gene and Congenital keratoglobus PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.