rs121918495, 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.
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
36 0.925 0.080 10 121517382 missense variant T/G snv 0.800 1.000 13 1995 2007
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
52 0.925 0.080 10 121517382 missense variant T/G snv 0.700 1.000 16 1994 2007