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: rs777169135
rs777169135 		0.851 0.080 10 121488064 missense variant T/C;G snv 4.0E-06
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2017 2017