FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Osteochondrodysplasias ×
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: rs121913105
rs121913105 		0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 2015 2016
dbSNP: rs78311289
rs78311289 		0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 2001 2007
dbSNP: rs121913482
rs121913482 		0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2003 2003
dbSNP: rs28933068
rs28933068 		0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2000 2000