Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918504
rs121918504
FGFR2
CUI: C4016346
Disease: CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL
CRANIOSYNOSTOSIS, NONSYNDROMIC UNICORONAL 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918504
rs121918504
FGFR2
CUI: C1852504
Disease: Misalignment of teeth
Misalignment of teeth 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918504
rs121918504
FGFR2
CUI: C2673410
Disease: Small midface
Small midface 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918504
rs121918504
FGFR2
CUI: C1849089
Disease: Broad forehead
Broad forehead 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918504
rs121918504
FGFR2
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918504
rs121918504
FGFR2
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		A 0.700 CausalMutation CLINVAR