FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: Interfrontal craniofaciosynostosis ×
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: rs121909633
rs121909633 		1.000 0.080 8 38424546 missense variant A/G snv 2.9E-04 4.1E-04
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2000 2000
dbSNP: rs121909641
rs121909641 		0.763 0.520 8 38419720 missense variant G/A snv
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0