FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 82; N. variants: 76
Disease: Exophthalmos ×
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: rs121918487
rs121918487 		0.716 0.440 10 121517378 missense variant C/A;G;T snv
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		Eye Diseases 0.700 0
dbSNP: rs1564919048
rs1564919048 		0.732 0.280 10 121520106 missense variant C/A snv
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		Eye Diseases 0.700 0