FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Disease: Sense of smell impaired ×
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: rs515726224
rs515726224 		0.925 0.320 8 38417962 missense variant C/T snv
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs515726225
rs515726225 		1.000 0.160 8 38414254 missense variant G/A snv
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs121909635
rs121909635 		0.827 0.240 8 38426158 missense variant C/T snv
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		Nervous System Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs121909636
rs121909636 		0.827 0.240 8 38414569 stop gained G/A snv
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		Nervous System Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs267606805
rs267606805 		0.851 0.240 8 38414173 missense variant G/T snv
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		Nervous System Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs267606806
rs267606806 		0.851 0.240 8 38414166 missense variant G/A;C snv 1.2E-05
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		Nervous System Diseases 0.010 < 0.001 1 2006 2006