Variant: rs121907925 

    present in Gene: PAX6
    present in Chromosome: 11
    Position on Chromosome: 31793795
    Alleles of this Variant: A/G

rs121907925 in PAX6 gene and Coloboma of optic disc PMID 12721955 2003 Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.

rs121907925 in PAX6 gene and Congenital ocular coloboma (disorder) PMID 12721955 2003 Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.