rs121918488, FGFR2

N. diseases: 7
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.
Pfeiffer Syndrome
CUI: C0220658
Disease: Pfeiffer Syndrome
36 0.790 0.120 10 121517379 missense variant A/C;G;T snv 0.820 1.000 19 1994 2015
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
52 0.790 0.120 10 121517379 missense variant A/C;G;T snv 0.810 1.000 17 1994 2012
JACKSON-WEISS SYNDROME
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
20 0.790 0.120 10 121517379 missense variant A/C;G;T snv 0.800 1.000 5 1994 1998
Antley-Bixler Syndrome, Autosomal Dominant
13 0.790 0.120 10 121517379 missense variant A/C;G;T snv 0.800 1.000 1 2000 2000
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
24 0.790 0.120 10 121517379 missense variant A/C;G;T snv 0.010 1.000 1 2014 2014
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
29 0.790 0.120 10 121517379 missense variant A/C;G;T snv 0.010 1.000 1 2012 2012
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.790 0.120 10 121517379 missense variant A/C;G;T snv 0.010 1.000 1 1999 1999