rs1057519043, FGFR2

N. diseases: 4
Disease: Craniofacial dysostosis type 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
0.710 GeneticVariation BEFREE Our study further identified G338R FGFR2 mutation (c1012G > C) lead to inherited Crouzon syndrome. 29848297 2018
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
0.710 CausalMutation CLINVAR