FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Lacrimoauriculodentodigital syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519044
rs1057519044 		0.752 0.440 10 121517390 missense variant C/T snv
CUI: C0265269
Disease: Lacrimoauriculodentodigital syndrome
Lacrimoauriculodentodigital syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 0