FOXE3, forkhead box E3, 2301

N. diseases: 118; N. variants: 11
Disease: Microphthalmos ×
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: rs377669670
rs377669670 		0.925 0.080 1 47416547 missense variant G/A snv 3.6E-05 6.4E-05
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs755377651
rs755377651 		0.925 0.080 1 47416625 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs80358194
rs80358194 		0.925 0.080 1 47417035 stop gained C/A snv 1.6E-04
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2010 2010