Variant: rs121907926

present in Gene: PAX6;ELP4 present in Chromosome: 11 Position on Chromosome: 31790722 Alleles of this Variant: T/C

rs121907926 in PAX6;ELP4 gene and Optic Nerve Hypoplasia, Bilateral PMID 12721955 2003 Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.