rs121909631, FGFR1

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Osteoglophonic dwarfism
CUI: C0432283
Disease: Osteoglophonic dwarfism
4 0.827 0.280 8 38419696 missense variant T/C snv 0.800 1.000 2 2005 2006
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
29 0.827 0.280 8 38419696 missense variant T/C snv 0.010 1.000 1 2002 2002
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
52 0.827 0.280 8 38419696 missense variant T/C snv 0.010 1.000 1 2002 2002
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
865 0.827 0.280 8 38419696 missense variant T/C snv 0.010 1 2006 2006
Syringomyelia
CUI: C0039144
Disease: Syringomyelia
4 0.827 0.280 8 38419696 missense variant T/C snv 0.010 1.000 1 2002 2002