Variant: rs104893861 

    present in Gene: PITX2
    present in Chromosome: 4
    Position on Chromosome: 110621210
    Alleles of this Variant: C/T

rs104893861 in PITX2 gene and IRIDOGONIODYSGENESIS, TYPE 2 PMID 9437321 1998 Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene.

PMID 10051017 1999 A mutation in the RIEG1 gene associated with Peters' anomaly.

PMID 20881294 2011 Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.

PMID 9618168 1998 Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome.