FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: Syndactyly ×
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: rs756016701
rs756016701 		0.882 0.080 8 38419718 missense variant C/A snv 4.0E-06
CUI: C0039075
Disease: Syndactyly
Syndactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2002 2002
dbSNP: rs981703846
rs981703846 		0.882 0.080 8 38421872 missense variant C/A;T snv 8.0E-06
CUI: C0039075
Disease: Syndactyly
Syndactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2002 2002