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.
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
Influenza-like illness
CUI: C0521839
Disease: Influenza-like illness
3 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2016 2016
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
Influenza-like symptoms
CUI: C0392171
Disease: Influenza-like symptoms
4 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2016 2016
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
Pancreatic Diseases
CUI: C0030286
Disease: Pancreatic Diseases
11 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2009 2009
Acquired aplastic anemia
CUI: C0271907
Disease: Acquired aplastic anemia
12 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2016 2016
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
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
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
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
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
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
Polyp of large intestine
CUI: C0949059
Disease: Polyp of large intestine
32 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2001 2001
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
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
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2019 2019
Pancreatitis
CUI: C0030305
Disease: Pancreatitis
80 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1 2009 2009
Adenoma
CUI: C0001430
Disease: Adenoma
103 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.020 1.000 2 2007 2011
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
Head and Neck Carcinoma
CUI: C3887461
Disease: Head and Neck Carcinoma
118 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.030 1.000 3 2003 2015
Malignant Head and Neck Neoplasm
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
118 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.030 1.000 3 2003 2015
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
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
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