Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.030 0.667 3 1999 2005
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		0.030 0.667 3 1999 2005
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.010 1.000 1 2005 2005
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.010 1.000 1 2005 2005
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0206677
Disease: Adenomatous Polyps
Adenomatous Polyps 		0.010 1.000 1 2005 2005
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		0.010 1.000 1 2005 2005
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma 		0.010 1.000 1 2006 2006
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0220621
Disease: Childhood Acute Myeloid Leukemia
Childhood Acute Myeloid Leukemia 		0.010 1.000 1 2006 2006
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 1.000 1 2006 2006
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.010 1.000 1 2006 2006
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0334463
Disease: Malignant Fibrous Histiocytoma
Malignant Fibrous Histiocytoma 		0.010 1.000 1 2006 2006
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
Xeroderma pigmentosum, group A 		0.010 1.000 1 2007 2007
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2007 2007
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		0.010 1.000 1 2007 2007
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		0.030 1.000 3 2005 2008
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0677949
Disease: Stage III Colorectal Cancer
Stage III Colorectal Cancer 		0.010 1.000 1 2008 2008
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2008 2008
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		0.010 1.000 1 2008 2008
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 1.000 1 2008 2008
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 1.000 1 2008 2008
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.010 1.000 1 2008 2008
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C3146250
Disease: Stage III Colorectal Cancer AJCC v7
Stage III Colorectal Cancer AJCC v7 		0.010 1.000 1 2008 2008
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.010 1.000 1 2008 2008
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.020 1.000 2 2005 2009