rs751047267, 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
CUI: C0010273
Disease: Craniofacial Dysostosis
29 0.925 0.080 10 121496555 missense variant T/C snv 7.0E-06 0.010 1.000 1 2005 2005
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
52 0.925 0.080 10 121496555 missense variant T/C snv 7.0E-06 0.010 1.000 1 2005 2005