FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Craniosynostosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057520044
rs1057520044
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis 		C 0.700 GeneticVariation CLINVAR A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 17803937 2007