FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
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: rs77543610
rs77543610
0.667 0.560 10 121520160 missense variant G/C snv
CUI: C0039075
Disease: Syndactyly
Syndactyly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.060 1.000 6 1996 2004
dbSNP: rs79184941
rs79184941
0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06
CUI: C0039075
Disease: Syndactyly
Syndactyly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.030 1.000 3 1998 2004
dbSNP: rs121918504
rs121918504
0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05
CUI: C0039075
Disease: Syndactyly
Syndactyly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 2002 2004
dbSNP: rs1458741036
rs1458741036
0.925 0.080 10 121515287 missense variant G/A snv 3.5E-05
CUI: C0039075
Disease: Syndactyly
Syndactyly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 1997 1997