rs777169135, 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.
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.851 0.080 10 121488064 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2007 2007
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
29 0.851 0.080 10 121488064 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2017 2017
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
52 0.851 0.080 10 121488064 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2017 2017
JACKSON-WEISS SYNDROME
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
20 0.851 0.080 10 121488064 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2017 2017