rs121918507, 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.
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
CUI: C1865070
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
9 0.882 0.280 10 121498591 missense variant T/C snv 0.800 1.000 2 2005 2007
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
52 0.882 0.280 10 121498591 missense variant T/C snv 0.710 1.000 1 2005 2005
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
29 0.882 0.280 10 121498591 missense variant T/C snv 0.010 1.000 1 2005 2005