Variant: rs121917708 

    present in Gene: GLI2
    present in Chromosome: 2
    Position on Chromosome: 120978500
    Alleles of this Variant: C/G;T

rs121917708 in GLI2 gene and PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) PMID 14581620 2003 Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.

PMID 17096318 2006 GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?

PMID 20685856 2010 Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.