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.
Malignant Fibrous Histiocytoma
CUI: C0334463
Disease: Malignant Fibrous Histiocytoma
3 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2006 2006
Stage III Colorectal Cancer
CUI: C0677949
Disease: Stage III Colorectal Cancer
3 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2008 2008
Stage III Colorectal Cancer AJCC v7
CUI: C3146250
Disease: Stage III Colorectal Cancer AJCC v7
3 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2008 2008
leiomyosarcoma
CUI: C0023269
Disease: leiomyosarcoma
5 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2006 2006
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
Leukoplakia, Oral
CUI: C0023532
Disease: Leukoplakia, Oral
6 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.020 1.000 2 2011 2013
Childhood Acute Myeloid Leukemia
CUI: C0220621
Disease: Childhood Acute Myeloid Leukemia
6 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2006 2006
Metastatic Colorectal Carcinoma
CUI: C4744564
Disease: Metastatic Colorectal Carcinoma
7 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.020 1.000 2 2007 2009
Gonorrhea
CUI: C0018081
Disease: Gonorrhea
7 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2014 2014
Leukoplakia
CUI: C0023531
Disease: Leukoplakia
8 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2011 2011
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
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
Urothelial Carcinoma
CUI: C2145472
Disease: Urothelial Carcinoma
10 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2014 2014
Hyponatremia
CUI: C0020625
Disease: Hyponatremia
11 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2018 2018
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
Carcinoma, Transitional Cell
CUI: C0007138
Disease: Carcinoma, Transitional Cell
12 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2014 2014
Age-related cataract
CUI: C0036646
Disease: Age-related cataract
15 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2015 2015
Lymphopenia
CUI: C0024312
Disease: Lymphopenia
16 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2019 2019
Adenomatous Polyps
CUI: C0206677
Disease: Adenomatous Polyps
20 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2005 2005
Acute monocytic leukemia
CUI: C0023465
Disease: Acute monocytic leukemia
22 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.020 1.000 2 2006 2014
Skin carcinoma
CUI: C0699893
Disease: Skin carcinoma
24 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 0.667 3 2004 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
T-Cell Lymphoma
CUI: C0079772
Disease: T-Cell Lymphoma
24 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2013 2013
Xeroderma pigmentosum, group G
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
31 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2007 2007