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.
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.040 1.000 4 2008 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
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
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
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
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
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
178 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.100 0.833 12 2012 2018
Osteosarcoma of bone
CUI: C0585442
Disease: Osteosarcoma of bone
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
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.090 0.889 9 2004 2018
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
1082 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.070 0.857 7 2004 2018
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
1168 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.070 0.857 7 2004 2018
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
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
progesterone receptor-negative breast cancer
CUI: C4733093
Disease: progesterone receptor-negative breast cancer
11 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2018 2018
progesterone receptor-positive breast cancer
CUI: C4733094
Disease: progesterone receptor-positive breast cancer
17 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2018 2018
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.100 0.909 11 2002 2017
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.100 0.900 10 2002 2017
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
615 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.090 0.889 9 2011 2017
Glioma
CUI: C0017638
Disease: Glioma
353 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.040 0.500 4 2012 2017
Lymphoma, Non-Hodgkin
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
197 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.040 0.750 4 2009 2017
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
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
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