FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Craniosynostosis ×
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: rs4647924
rs4647924 		0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 0.944 18 1997 2016
dbSNP: rs78311289
rs78311289 		0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.720 0.833 6 1998 2011
dbSNP: rs121913105
rs121913105 		0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 0.833 6 1999 2016
dbSNP: rs28933068
rs28933068 		0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 9 1995 2014
dbSNP: rs28931615
rs28931615 		0.732 0.240 4 1804426 missense variant C/A;T snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 7 1995 2013
dbSNP: rs121913483
rs121913483 		0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 6 1995 2015
dbSNP: rs28931614
rs28931614 		0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 5 1996 2015
dbSNP: rs121913485
rs121913485 		0.716 0.400 4 1804372 missense variant A/G snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 4 1996 2017
dbSNP: rs28928868
rs28928868 		0.925 0.120 4 1806164 missense variant G/C;T snv 4.0E-06
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 4 2000 2010
dbSNP: rs121913113
rs121913113 		0.882 0.240 4 1806076 missense variant G/A snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2006 2016
dbSNP: rs397515514
rs397515514 		0.925 0.080 4 1807261 stop lost G/T snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs886043613
rs886043613 		0.925 0.080 4 1801519 missense variant C/T snv
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs373496046
rs373496046 		1.000 0.080 4 1803761 missense variant G/A;T 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