rs121918496, FGFR2

N. diseases: 4
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 type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
52 0.851 0.120 10 121517377 missense variant G/C snv 0.820 1.000 17 1994 2007
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
29 0.851 0.120 10 121517377 missense variant G/C snv 0.020 1.000 2 1995 2002
Fleck corneal dystrophy
CUI: C1562113
Disease: Fleck corneal dystrophy
12 0.851 0.120 10 121517377 missense variant G/C snv 0.010 1.000 1 1995 1995
JACKSON-WEISS SYNDROME
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
20 0.851 0.120 10 121517377 missense variant G/C snv 0.010 1.000 1 1995 1995