FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
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: rs981703846
rs981703846
0.882 0.080 8 38421872 missense variant C/A;T snv 8.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.030 1.000 3 2000 2011
dbSNP: rs121909627
rs121909627
0.776 0.200 8 38424690 missense variant G/C snv 4.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 1997 2000
dbSNP: rs756016701
rs756016701
0.882 0.080 8 38419718 missense variant C/A snv 4.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 2000 2002
dbSNP: rs768918396
rs768918396
1.000 0.080 8 38419732 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2011 2011