FOXE3, forkhead box E3, 2301

N. diseases: 118; N. variants: 11
Disease: Cataract, Autosomal Recessive Congenital 3 ×
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: rs1057518737
rs1057518737 		1.000 0.040 1 47416666 missense variant C/G snv
CUI: C2751822
Disease: Cataract, Autosomal Recessive Congenital 3
Cataract, Autosomal Recessive Congenital 3 		Eye Diseases 0.700 0
dbSNP: rs1057518738
rs1057518738 		1.000 0.040 1 47416622 missense variant G/A snv
CUI: C2751822
Disease: Cataract, Autosomal Recessive Congenital 3
Cataract, Autosomal Recessive Congenital 3 		Eye Diseases 0.700 0