Variant: rs104893805 

    present in Gene: SOX2;SOX2-OT
    present in Chromosome: 3
    Position on Chromosome: 181712581
    Alleles of this Variant: G/C;T

rs104893805 in SOX2;SOX2-OT gene and Microphthalmia, Syndromic 3 PMID 24033328 2014 Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

PMID 12612584 2003 Mutations in SOX2 cause anophthalmia.