Variant: rs121912543 

    present in Gene: VSX2
    present in Chromosome: 14
    Position on Chromosome: 74259621
    Alleles of this Variant: G/A;C

rs121912543 in VSX2 gene and Microphthalmia, Isolated, with Coloboma 3 PMID 17919464 2008 Negative regulation of Vsx1 by its paralog Chx10/Vsx2 is conserved in the vertebrate retina.

PMID 27301076 2016 Regulation of WNT Signaling by VSX2 During Optic Vesicle Patterning in Human Induced Pluripotent Stem Cells.

PMID 10932181 2000 Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.