EPHX1, epoxide hydrolase 1, 2052

N. diseases: 196; N. variants: 5
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: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.080 1.000 8 2006 2015
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.080 1.000 8 2006 2015
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.080 1.000 8 2006 2015
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.070 0.714 7 2005 2013
dbSNP: rs2234922
rs2234922 		0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.070 0.571 7 2010 2015
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.060 0.667 6 2011 2015
dbSNP: rs2234922
rs2234922 		0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.060 0.500 6 2010 2015
dbSNP: rs2234922
rs2234922 		0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.060 0.667 6 2005 2013
dbSNP: rs2234922
rs2234922 		0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.060 0.500 6 2010 2015
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.050 0.600 5 2013 2015
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.050 0.400 5 1996 2014
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.050 0.600 5 2013 2015
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.050 0.400 5 1996 2014
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.050 0.800 5 2007 2015
dbSNP: rs2234922
rs2234922 		0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.050 1.000 5 2006 2015
dbSNP: rs2234922
rs2234922 		0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.050 1.000 5 2006 2015
dbSNP: rs2234922
rs2234922 		0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.050 1.000 5 2006 2015
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2007 2014
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.030 0.667 3 2003 2019
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		Neoplasms 0.030 1.000 3 2003 2015
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.030 1.000 3 1996 2014
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		Neoplasms 0.030 1.000 3 2003 2015
dbSNP: rs2234922
rs2234922 		0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 0.667 3 2011 2015
dbSNP: rs2234922
rs2234922 		0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2006 2019
dbSNP: rs2234922
rs2234922 		0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.030 0.333 3 2005 2014