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.
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
Head and Neck Carcinoma
CUI: C3887461
Disease: Head and Neck Carcinoma
118 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.030 0.667 3 2010 2015
Lymphoma, Non-Hodgkin, Familial
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
79 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.030 1.000 3 2014 2017
Malignant Head and Neck Neoplasm
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
118 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.030 0.667 3 2010 2015
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
502 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.030 0.667 3 2007 2016
Malignant neoplasm of skin
CUI: C0007114
Disease: Malignant neoplasm of skin
38 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.030 0.667 3 2005 2017
melanoma
CUI: C0025202
Disease: melanoma
515 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.030 1.000 3 2005 2018
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
257 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.030 1.000 3 2002 2015
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
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
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.020 1.000 2 2014 2016
Malignant neoplasm of esophagus
CUI: C0546837
Disease: Malignant neoplasm of esophagus
214 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.020 1.000 2 2014 2019
Skin carcinoma
CUI: C0699893
Disease: Skin carcinoma
24 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.020 0.500 2 2007 2017
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
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
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
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
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