ZEB1, zinc finger E-box binding homeobox 1, 6935

N. diseases: 310; N. variants: 16
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 ×
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: rs118020901
rs118020901 		0.925 0.080 10 31521854 missense variant A/C;G snv 7.4E-03; 4.0E-06
CUI: C2750448
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.800 0
dbSNP: rs779148597
rs779148597 		0.882 0.080 10 31521255 missense variant G/T snv 8.0E-06 7.0E-06
CUI: C2750448
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 3 2010 2014
dbSNP: rs781750314
rs781750314 		1.000 0.080 10 31521280 missense variant C/G snv 1.6E-05 5.6E-05
CUI: C2750448
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 3 2010 2014
dbSNP: rs78449005
rs78449005 		1.000 0.080 10 31524045 missense variant C/G snv 4.9E-04 1.6E-03
CUI: C2750448
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 3 2010 2014
dbSNP: rs199944415
rs199944415 		1.000 0.080 10 31521764 missense variant A/C;G snv 2.4E-05; 4.8E-05
CUI: C2750448
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs567252241
rs567252241 		1.000 0.080 10 31521422 missense variant A/G snv 2.0E-05 3.5E-05
CUI: C2750448
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs80194531
rs80194531 		1.000 0.080 10 31461211 missense variant A/C snv 3.9E-03 1.6E-02
CUI: C2750448
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0