Variant: rs199761861 

    present in Gene: OTX2
    present in Chromosome: 14
    Position on Chromosome: 56802204
    Alleles of this Variant: G/C;T

rs199761861 in OTX2 gene and PITUITARY HORMONE DEFICIENCY, COMBINED, 6 PMID 22715480 2012 A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve.

PMID 18728160 2008 A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.