FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Atresia ×
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: rs28931615
rs28931615 		0.732 0.240 4 1804426 missense variant C/A;T snv
CUI: C0243066
Disease: Atresia
Atresia 		0.010 1.000 1 2000 2000