FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
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: rs121913482
rs121913482
0.630 0.680 4 1801837 missense variant C/T snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.710 1.000 1 2003 2003
dbSNP: rs886043613
rs886043613
0.925 0.080 4 1801519 missense variant C/T snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs121913105
rs121913105
0.653 0.600 4 1806163 missense variant A/C;T snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.020 1.000 2 2015 2016
dbSNP: rs28933068
rs28933068
0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2000 2000
dbSNP: rs78311289
rs78311289
0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2001 2001