rs121918492, 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.
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
29 0.882 0.080 10 121517372 missense variant G/C snv 7.0E-06 0.010 1.000 1 1995 1995
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
52 0.882 0.080 10 121517372 missense variant G/C snv 7.0E-06 0.810 1.000 16 1994 2007
JACKSON-WEISS SYNDROME
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
20 0.882 0.080 10 121517372 missense variant G/C snv 7.0E-06 0.810 1.000 6 1994 1998