rs1057519036, FGFR2

N. diseases: 2
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 0.925 0.080 10 121520092 missense variant A/C snv 0.800 0
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
24 0.925 0.080 10 121520092 missense variant A/C snv 0.700 1.000 6 1998 2014