rs13181, KLC3;ERCC2

N. diseases: 134
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.
Cancer of Nasopharynx
CUI: C0238301
Disease: Cancer of Nasopharynx
12 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1 2014 2014
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1 2010 2010
Early infantile epileptic encephalopathy with suppression bursts
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
10 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1 2017 2017
Epithelial ovarian cancer
CUI: C0677886
Disease: Epithelial ovarian cancer
129 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1 2013 2013
Ichthyosis, X-Linked
CUI: C0079588
Disease: Ichthyosis, X-Linked
10 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1 2013 2013
Malignant neoplasm of nasopharynx
CUI: C0153392
Disease: Malignant neoplasm of nasopharynx
10 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1 2014 2014
Opitz GBBB Syndrome, X-Linked
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
24 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1 2017 2017
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
204 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1 2018 2018
Steroid Sulfatase Deficiency Disease
CUI: C2717836
Disease: Steroid Sulfatase Deficiency Disease
5 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1 2013 2013
Lip and Oral Cavity Carcinoma
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
172 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 0.333 3 2007 2013
Malignant neoplasm of mouth
CUI: C0153381
Disease: Malignant neoplasm of mouth
184 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 0.333 3 2007 2013
Head and Neck Carcinoma
CUI: C3887461
Disease: Head and Neck Carcinoma
118 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.040 0.500 4 2011 2014
Malignant Head and Neck Neoplasm
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
118 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.040 0.500 4 2011 2014
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
272 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.020 0.500 2 2008 2014
Esophageal Neoplasms
CUI: C0014859
Disease: Esophageal Neoplasms
270 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.020 0.500 2 2008 2014
Malignant neoplasm of esophagus
CUI: C0546837
Disease: Malignant neoplasm of esophagus
214 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.020 0.500 2 2008 2014
Malignant neoplasm of skin
CUI: C0007114
Disease: Malignant neoplasm of skin
38 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.020 0.500 2 2005 2014
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
327 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.050 0.600 5 2013 2017
Childhood Osteosarcoma
CUI: C1332986
Disease: Childhood Osteosarcoma
151 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.080 0.625 8 2012 2018
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
178 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.080 0.625 8 2012 2018
Osteosarcoma of bone
CUI: C0585442
Disease: Osteosarcoma of bone
151 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.080 0.625 8 2012 2018
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
91 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 0.667 3 1999 2005
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
248 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 0.667 3 2013 2015
Diffuse Large B-Cell Lymphoma
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
127 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 0.667 3 2013 2018
Experimental Organism Basal Cell Carcinoma
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
63 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 0.667 3 1999 2005