rs121918498, 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.
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
24 1.000 0.080 10 121520162 missense variant CG/AA mnv 0.810 1.000 8 1995 2004
Craniofacial Abnormalities
CUI: C0376634
Disease: Craniofacial Abnormalities
4 1.000 0.080 10 121520162 missense variant CG/AA mnv 0.010 1.000 1 1997 1997