rs77543610, FGFR2

N. diseases: 28
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 0.667 0.560 10 121520160 missense variant G/C snv 0.710 1.000 10 1995 2015
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
36 0.667 0.560 10 121520160 missense variant G/C snv 0.760 1.000 6 1998 2014
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
24 0.667 0.560 10 121520160 missense variant G/C snv 0.900 1.000 30 1995 2018