FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 665; N. variants: 90
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: rs1057520044
rs1057520044
1.000 0.071 10 121498597 missense variant T/C snp
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 2007 2007
dbSNP: rs121918491
rs121918491
0.923 0.071 10 121517371 synonymous variant C/T snp 4.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 2015 2015
dbSNP: rs121918506
rs121918506
0.878 0.071 10 121496701 missense variant T/C,G snp
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 2007 2007
dbSNP: rs777169135
rs777169135
1.000 0.071 10 121488064 missense variant T/C,G snp 4.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 2007 2007
dbSNP: rs77543610
rs77543610
0.724 0.071 10 121520160 missense variant G/C snp
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.040 1.000 4 1997 2008
dbSNP: rs79184941
rs79184941
0.638 0.321 10 121520163 missense variant G/A,C snp 5.6E-05; 4.0E-06 3.2E-05
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.040 1.000 4 2001 2008
dbSNP: rs121918504
rs121918504
0.878 0.071 10 121517460 missense variant C/A,T snp 2.4E-05
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 2000 2005
dbSNP: rs121918488
rs121918488
0.801 0.107 10 121517379 missense variant A/C,G,T snp
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1999 1999
dbSNP: rs148514974
rs148514974
1.000 0.071 10 121565618 missense variant C/T snp 8.0E-06 3.2E-05
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2006 2006
dbSNP: rs374608214
rs374608214
0.769 0.071 10 121520010 missense variant G/C snp 4.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1997 1997
dbSNP: rs776587763
rs776587763
0.821 0.071 10 121520085 missense variant C/A,T snp 4.0E-06; 4.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2018 2018