rs121918497, 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.
JACKSON-WEISS SYNDROME
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
6 0.878 0.071 10 121520052 stop lost T/G snp 0.800 2 1995 1996
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
32 0.878 0.071 10 121520052 stop lost T/G snp 0.710 1.000 3 1995 2001
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
31 0.878 0.071 10 121520052 stop lost T/G snp 0.710 1.000 1 2001 2001