FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 558; N. variants: 42
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: rs28931614
rs28931614
0.744 0.179 4 1804392 missense variant G/A,C snp
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.900 0.955 55 1994 2018
dbSNP: rs75790268
rs75790268
0.923 0.107 4 1804377 missense variant G/T snp
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.850 1.000 7 1995 2012
dbSNP: rs28933068
rs28933068
0.784 0.107 4 1805644 stop gained C/A,G,T snp 1.6E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.740 1.000 5 1998 2014
dbSNP: rs121913114
rs121913114
0.923 0.107 4 1801930 missense variant A/G,T snp 4.0E-06
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 2 2007 2008
dbSNP: rs121913482
rs121913482
0.685 0.393 4 1801837 missense variant C/T snp
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1 2014 2014
dbSNP: rs121913105
rs121913105
0.724 0.179 4 1806163 missense variant A/C,T snp
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121913479
rs121913479
0.744 0.286 4 1804362 missense variant G/A,T snp 4.0E-06 3.2E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2000 2000