FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
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: rs121918494
rs121918494
0.790 0.160 10 121517363 missense variant G/C snv
CUI: C0239234
Disease: Low set ears
Low set ears
0.700 0
dbSNP: rs1564919048
rs1564919048
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C0239234
Disease: Low set ears
Low set ears
0.700 0