FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
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: 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
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 1 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 1 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: rs121918488
rs121918488
0.790 0.120 10 121517379 missense variant A/C;G;T snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1999 1999
dbSNP: rs121918501
rs121918501
0.807 0.080 10 121520050 missense variant A/C;G snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1224606327
rs1224606327
1.000 0.080 10 121485399 missense variant C/T snv 4.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1458741036
rs1458741036
0.925 0.080 10 121515287 missense variant G/A snv 3.5E-05
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1997 1997
dbSNP: rs374608214
rs374608214
0.742 0.160 10 121520010 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1997 1997
dbSNP: rs761012674
rs761012674
1.000 0.080 10 121503884 missense variant T/C snv 4.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2011 2011
dbSNP: rs765241522
rs765241522
1.000 0.080 10 121503799 missense variant G/A snv 4.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121918504
rs121918504
0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.030 1.000 3 2000 2004
dbSNP: rs77543610
rs77543610
0.667 0.560 10 121520160 missense variant G/C snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.040 1.000 4 1999 2014
dbSNP: rs79184941
rs79184941
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.050 1.000 5 2004 2017