FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Pfeiffer Syndrome ×
Source: ALL
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: rs121918488
rs121918488 		0.790 0.120 10 121517379 missense variant A/C;G;T snv
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.820 1.000 19 1994 2015