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

N. diseases: 310; N. variants: 16
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: rs1057518956
rs1057518956 		0.925 0.080 10 31520308 stop gained C/T snv
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1057518956
rs1057518956 		0.925 0.080 10 31520308 stop gained C/T snv
CUI: C0017601
Disease: Glaucoma
Glaucoma 		Eye Diseases 0.700 0
dbSNP: rs1057518956
rs1057518956 		0.925 0.080 10 31520308 stop gained C/T snv
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
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: rs766305306
rs766305306 		1.000 0.080 10 31520904 frameshift variant -/G delins
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		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
dbSNP: rs118020901
rs118020901 		0.925 0.080 10 31521854 missense variant A/C;G snv 7.4E-03; 4.0E-06
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1285547057
rs1285547057 		10 31520321 missense variant G/A snv 1.2E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1285547057
rs1285547057 		10 31520321 missense variant G/A snv 1.2E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1327135247
rs1327135247 		0.827 0.160 10 31510820 missense variant C/T snv 4.0E-06
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1327135247
rs1327135247 		0.827 0.160 10 31510820 missense variant C/T snv 4.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1327135247
rs1327135247 		0.827 0.160 10 31510820 missense variant C/T snv 4.0E-06
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1327135247
rs1327135247 		0.827 0.160 10 31510820 missense variant C/T snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1327135247
rs1327135247 		0.827 0.160 10 31510820 missense variant C/T snv 4.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1431090090
rs1431090090 		1.000 0.040 10 31520347 missense variant C/A snv 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1431090090
rs1431090090 		1.000 0.040 10 31520347 missense variant C/A snv 4.0E-06
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2018 2018
dbSNP: rs1487151044
rs1487151044 		0.851 0.080 10 31510817 missense variant T/C snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1487151044
rs1487151044 		0.851 0.080 10 31510817 missense variant T/C snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1487151044
rs1487151044 		0.851 0.080 10 31510817 missense variant T/C snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1487151044
rs1487151044 		0.851 0.080 10 31510817 missense variant T/C snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2014 2014