Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918504
rs121918504
FGFR2
0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05
CUI: C1852504
Disease: Misalignment of teeth
Misalignment of teeth 		0.700 0
dbSNP: rs121918504
rs121918504
FGFR2
0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05
CUI: C2673410
Disease: Small midface
Small midface 		0.700 0
dbSNP: rs121918504
rs121918504
FGFR2
0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		0.700 0
dbSNP: rs121918504
rs121918504
FGFR2
0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		0.700 0
dbSNP: rs121918504
rs121918504
FGFR2
0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05
CUI: C1849089
Disease: Broad forehead
Broad forehead 		0.700 0
dbSNP: rs121918504
rs121918504
FGFR2
0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05
CUI: C4016346
Disease: CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL
CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL 		0.700 0