Variant: rs755799430 

    present in Gene: VSX2
    present in Chromosome: 14
    Position on Chromosome: 74259689
    Alleles of this Variant: G/A

rs755799430 in VSX2 gene and Microphthalmia, Isolated, with Coloboma 3 PMID 24033328 2014 Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

PMID 15257456 2004 CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds.

rs755799430 in VSX2 gene and Microphthalmos PMID 26893459 2016 Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.