Variant: rs104894464 

    present in Gene: OTX2
    present in Chromosome: 14
    Position on Chromosome: 56802340
    Alleles of this Variant: G/A;C

rs104894464 in OTX2 gene and Microphthalmia, Syndromic 5 PMID 22577225 2012 OTX2 mutations contribute to the otocephaly-dysgnathia complex.

PMID 20396904 2010 A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency.

PMID 15846561 2005 Heterozygous mutations of OTX2 cause severe ocular malformations.

PMID 24167467 2013 Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2.