present in Gene: EYA1
present in Chromosome: 8
Position on Chromosome: 71211215
Alleles of this Variant: T/C
rs121909197 in
EYA1 gene and
BRANCHIOOTIC SYNDROME 1
PMID 10655545 2000 Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies.