FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Brachyturricephaly ×
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: rs121918487
rs121918487 		0.716 0.440 10 121517378 missense variant C/A;G;T snv
CUI: C1857484
Disease: Brachyturricephaly
Brachyturricephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C1857484
Disease: Brachyturricephaly
Brachyturricephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0