FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 82; N. variants: 76
Disease: Abnormality of the pinna ×
Source: CLINVAR ×
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: rs121918494
rs121918494 		0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		0.700 0