FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: Agenesis ×
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: rs752627281
rs752627281 		1.000 8 38419631 missense variant C/T snv 2.4E-05 6.3E-05
CUI: C0000846
Disease: Agenesis
Agenesis 		0.010 1.000 1 2007 2007