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: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0333983
Disease: Hyperplastic Polyp
Hyperplastic Polyp 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2011 2011
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0023051
Disease: Laryngeal Diseases
Laryngeal Diseases 		Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0392171
Disease: Influenza-like symptoms
Influenza-like symptoms 		0.010 1.000 1 2016 2016
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0043144
Disease: Wheezing
Wheezing 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2011 2011
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		Digestive System Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2003 2003
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2012 2012
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.010 1.000 1 2001 2001
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0241982
Disease: Bulla of lung
Bulla of lung 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2019 2019
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0268398
Disease: Familial lichen amyloidosis
Familial lichen amyloidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1051740
rs1051740 		0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016