rs776587763, 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 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.820 1.000 15 1995 2014
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
52 0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.800 1.000 16 1994 2007
JACKSON-WEISS SYNDROME
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
20 0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.800 1.000 10 1994 2014
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.710 1.000 1 2017 2017
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
43 0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 0
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 0
Apert syndrome
CUI: C0001193
Disease: Apert syndrome
24 0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2014 2014