FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 93; N. variants: 98
Disease: Craniosynostosis ×
Source: CURATED ×
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: rs121918487
rs121918487 		0.716 0.440 10 121517378 missense variant C/A;G;T snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 0 2017 2017
dbSNP: rs776587763
rs776587763 		0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 0 2017 2017
dbSNP: rs1057520044
rs1057520044 		1.000 0.080 10 121498597 missense variant T/C snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2007 2007
dbSNP: rs121918506
rs121918506 		0.882 0.080 10 121496701 missense variant T/C;G snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2007 2007
dbSNP: rs777169135
rs777169135 		0.851 0.080 10 121488064 missense variant T/C;G snv 4.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2007 2007
dbSNP: rs121918491
rs121918491 		0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1564919048
rs1564919048 		0.732 0.280 10 121520106 missense variant C/A snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0