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
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
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
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
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
6892 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2014 2014
Leukopenia
CUI: C0023530
Disease: Leukopenia
153 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2010 2010
Lip and Oral Cavity Carcinoma
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
172 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1 2013 2013
Lung Neoplasms
CUI: C0024121
Disease: Lung Neoplasms
39 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2005 2005
Lymphoma
CUI: C0024299
Disease: Lymphoma
91 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2009 2009
Malignant neoplasm of mouth
CUI: C0153381
Disease: Malignant neoplasm of mouth
184 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1 2013 2013
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
277 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2007 2007
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
95 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2017 2017
Neutropenia
CUI: C0027947
Disease: Neutropenia
97 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2010 2010
Opitz GBBB Syndrome, X-Linked
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
24 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2017 2017
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
322 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2007 2007