rs1051740, EPHX1

N. diseases: 56
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Craniofacial Abnormalities
CUI: C0376634
Disease: Craniofacial Abnormalities
4 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2010 2010
Malignant neoplasm of esophagus
CUI: C0546837
Disease: Malignant neoplasm of esophagus
214 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.060 0.667 6 2011 2015
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
502 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.020 1.000 2 2011 2013
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
281 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2011 2011
Bulla of lung
CUI: C0241982
Disease: Bulla of lung
2 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2011 2011
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2011 2011
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
309 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2011 2011
Hyperplastic Polyp
CUI: C0333983
Disease: Hyperplastic Polyp
22 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2011 2011
Laryngeal Diseases
CUI: C0023051
Disease: Laryngeal Diseases
7 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2011 2011
Malignant neoplasm of urinary bladder
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
316 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2011 2011
Secondary malignant neoplasm of lymph node
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
188 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2011 2011
Wheezing
CUI: C0043144
Disease: Wheezing
54 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2011 2011
Adenoma of large intestine
CUI: C1302401
Disease: Adenoma of large intestine
213 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1 2012 2012
Adult Medulloblastoma
CUI: C0278876
Disease: Adult Medulloblastoma
24 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2012 2012
Childhood Acute Lymphoblastic Leukemia
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
261 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2012 2012
Childhood Medulloblastoma
CUI: C0278510
Disease: Childhood Medulloblastoma
25 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2012 2012
Familial lichen amyloidosis
CUI: C0268398
Disease: Familial lichen amyloidosis
24 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2012 2012
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
115 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2012 2012
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
272 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.050 0.600 5 2013 2015
Esophageal Neoplasms
CUI: C0014859
Disease: Esophageal Neoplasms
270 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.050 0.600 5 2013 2015
Alcoholic Intoxication, Chronic
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
441 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2013 2013
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2014 2014
Schwartz-Jampel Syndrome
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
12 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2014 2014
Toxic Epidermal Necrolysis
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
29 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2014 2014
Malignant neoplasm of skin
CUI: C0007114
Disease: Malignant neoplasm of skin
38 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2015 2015