rs121918493, 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
32 0.923 0.071 10 121517420 missense variant T/C snp 0.700 1 1995 1995
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
31 0.923 0.071 10 121517420 missense variant T/C snp 0.700 1 1995 1995