Variant: rs104893862

present in Gene: PITX2 present in Chromosome: 4 Position on Chromosome: 110621231 Alleles of this Variant: C/T

rs104893862 in PITX2 gene and RING DERMOID OF CORNEA PMID 15591271 2004 Mutation in PITX2 is associated with ring dermoid of the cornea.

PMID 22224469 2012 Structural and biophysical insights into the ligand-free Pitx2 homeodomain and a ring dermoid of the cornea inducing homeodomain mutant.