Variant: rs121907918 

    present in Gene: PAX6
    present in Chromosome: 11
    Position on Chromosome: 31800832
    Alleles of this Variant: G/A;T

rs121907918 in PAX6 gene and FOVEAL HYPOPLASIA 1 PMID 8640214 1996 PAX6 missense mutation in isolated foveal hypoplasia.

PMID 9931324 1999 Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.