FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 93; N. variants: 98
Disease: Pfeiffer Syndrome ×
Source: CURATED ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs886037837
rs886037837 		1.000 0.080 10 121520037 inframe deletion CGTGCTTGATCCACTGGA/- delins
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0