FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Syringomyelia ×
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: rs1057519038
rs1057519038 		0.882 0.120 10 121520076 missense variant T/C snv
CUI: C0039144
Disease: Syringomyelia
Syringomyelia 		Nervous System Diseases 0.010 1.000 1 2002 2002