rs121918506, 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.
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
36 0.882 0.080 10 121496701 missense variant T/C;G snv 0.800 1.000 13 1995 2007
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.882 0.080 10 121496701 missense variant T/C;G snv 0.700 1.000 1 2007 2007
endometrial adenoacanthoma
CUI: C0279763
Disease: endometrial adenoacanthoma
12 0.882 0.080 10 121496701 missense variant T/C;G snv 0.700 1.000 1 2013 2013