rs1057519038, FGFR2

N. diseases: 3
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.
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
52 0.882 0.120 10 121520076 missense variant T/C snv 0.710 1.000 1 2002 2002
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
29 0.882 0.120 10 121520076 missense variant T/C snv 0.010 1.000 1 2002 2002
Syringomyelia
CUI: C0039144
Disease: Syringomyelia
4 0.882 0.120 10 121520076 missense variant T/C snv 0.010 1.000 1 2002 2002