rs121918504, FGFR2

N. diseases: 9
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.
Broad forehead
CUI: C1849089
Disease: Broad forehead
13 0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05 0.700 0
Class III malocclusion
CUI: C0399526
Disease: Class III malocclusion
19 0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05 0.700 0
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
52 0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05 0.700 0
CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL
CUI: C4016346
Disease: CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL
1 0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05 0.700 0
Misalignment of teeth
CUI: C1852504
Disease: Misalignment of teeth
2 0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05 0.700 0
Small midface
CUI: C2673410
Disease: Small midface
24 0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05 0.700 0
Craniosynostosis
CUI: C0010278
Disease: Craniosynostosis
90 0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05 0.030 1.000 3 2000 2004
Syndactyly
CUI: C0039075
Disease: Syndactyly
26 0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05 0.020 1.000 2 2002 2004
Unicoronal craniosynostosis
CUI: C0432124
Disease: Unicoronal craniosynostosis
3 0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05 0.010 1.000 1 2000 2000