FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Craniofacial Dysostosis ×
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: rs121918496
rs121918496 		0.851 0.120 10 121517377 missense variant G/C snv
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 1995 2002