rs121918501, FGFR2

N. diseases: 6
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 0.807 0.080 10 121520050 missense variant A/C;G snv 0.830 1.000 18 1994 2014
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
29 0.807 0.080 10 121520050 missense variant A/C;G snv 0.030 1.000 3 1995 2014
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
36 0.807 0.080 10 121520050 missense variant A/C;G snv 0.020 1.000 2 2006 2014
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
24 0.807 0.080 10 121520050 missense variant A/C;G snv 0.010 1.000 1 2014 2014
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.807 0.080 10 121520050 missense variant A/C;G snv 0.010 1.000 1 2012 2012
JACKSON-WEISS SYNDROME
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
20 0.807 0.080 10 121520050 missense variant A/C;G snv 0.010 1.000 1 1995 1995