FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Congenital Microtia ×
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: rs3135718
rs3135718 		0.882 0.160 10 121594355 intron variant C/T snv 0.54
CUI: C3850155
Disease: Congenital Microtia
Congenital Microtia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019