FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Coronal craniosynostosis ×
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: rs4647924
rs4647924 		0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.730 1.000 3 1998 2000