FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Thanatophoric Dysplasia ×
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: rs78311289
rs78311289 		0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.050 1.000 5 1995 2013
dbSNP: rs28931614
rs28931614 		0.672 0.520 4 1804392 missense variant G/A;C snv
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 1996 2002
dbSNP: rs1211533350
rs1211533350 		0.827 0.120 4 1805638 synonymous variant C/A snv 4.0E-06 7.0E-06
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs121913105
rs121913105 		0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121913479
rs121913479 		0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1998 1998
dbSNP: rs121913482
rs121913482 		0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs121913485
rs121913485 		0.716 0.400 4 1804372 missense variant A/G snv
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2008 2008
dbSNP: rs267606808
rs267606808 		0.882 0.120 4 1805396 missense variant A/G snv
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs28933068
rs28933068 		0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2009 2009