rs1799793, ERCC2

N. diseases: 72
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.
Acute monocytic leukemia
CUI: C0023465
Disease: Acute monocytic leukemia
22 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2014 2014
Adenocarcinoma Of Esophagus
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
81 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2014 2014
Adenomatous Polyps
CUI: C0206677
Disease: Adenomatous Polyps
20 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2005 2005
Adult Lymphoma
CUI: C1332206
Disease: Adult Lymphoma
66 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2009 2009
Adult Non-Hodgkin Lymphoma
CUI: C0220605
Disease: Adult Non-Hodgkin Lymphoma
39 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.030 1.000 3 2014 2017
Anemia, severe
CUI: C0238644
Disease: Anemia, severe
6 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2019 2019
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
331 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1 2016 2016
Azoospermia
CUI: C0004509
Disease: Azoospermia
70 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2008 2008
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
281 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.080 1.000 8 2007 2014
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
204 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2016 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.090 0.889 9 2004 2018
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
309 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.080 1.000 8 2007 2014
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.100 1.000 14 2001 2014
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
91 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1 2005 2005
Childhood Lymphoma
CUI: C1332979
Disease: Childhood Lymphoma
66 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2009 2009
Childhood Non-Hodgkin Lymphoma
CUI: C0220612
Disease: Childhood Non-Hodgkin Lymphoma
39 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.030 1.000 3 2014 2017
Childhood Osteosarcoma
CUI: C1332986
Disease: Childhood Osteosarcoma
151 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.100 0.833 12 2012 2018
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.030 0.667 3 2007 2016
Conventional (Clear Cell) Renal Cell Carcinoma
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
222 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2008 2008
Diffuse Large B-Cell Lymphoma
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
127 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.020 0.500 2 2013 2018
Early infantile epileptic encephalopathy with suppression bursts
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
10 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2017 2017
Endometriosis
CUI: C0014175
Disease: Endometriosis
274 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2019 2019
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
272 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.020 1.000 2 2014 2019
Esophageal Neoplasms
CUI: C0014859
Disease: Esophageal Neoplasms
270 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.020 1.000 2 2014 2019
Experimental Organism Basal Cell Carcinoma
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
63 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1 2005 2005