Variant: rs387906911 

    present in Gene: ABCB6
    present in Chromosome: 2
    Position on Chromosome: 219218505
    Alleles of this Variant: C/T

rs387906911 in ABCB6 gene and MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 PMID 22226084 2012 ABCB6 mutations cause ocular coloboma.