Variant: rs121918507 

    present in Gene: FGFR2
    present in Chromosome: 10
    Position on Chromosome: 121498591
    Alleles of this Variant: T/C

rs121918507 in FGFR2 gene and SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION PMID 17803937 2007 A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.

PMID 16061565 2005 Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.