Variant: rs121918508

present in Gene: FGFR2 present in Chromosome: 10 Position on Chromosome: 121488035 Alleles of this Variant: C/T

rs121918508 in FGFR2 gene and Lacrimoauriculodentodigital syndrome PMID 16501574 2006 Mutations in different components of FGF signaling in LADD syndrome.

PMID 18056630 2007 Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation.