FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: Septo-Optic Dysplasia ×
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: rs148480919
rs148480919 		1.000 0.080 8 38429704 synonymous variant G/A snv 4.5E-04 1.5E-03
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs934813061
rs934813061 		1.000 0.080 8 38429803 synonymous variant G/C snv
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012