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.
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
Xeroderma pigmentosum, group A
CUI: C0268135
Disease: Xeroderma pigmentosum, group A
55 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2007 2007
Xeroderma Pigmentosum, Complementation Group D
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
111 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.100 0.938 32 2001 2019
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
82 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.020 1.000 2 2005 2018
Xeroderma Pigmentosum
CUI: C0043346
Disease: Xeroderma Pigmentosum
35 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.020 1.000 2 2006 2018
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
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
169 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2008 2008
Triple-Negative Breast Carcinoma
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
96 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2014 2014
Triple Negative Breast Neoplasms
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
99 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2014 2014
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
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
652 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.090 0.778 9 2011 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
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
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
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
348 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 1.000 3 2011 2017
Squamous cell carcinoma of esophagus
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
329 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.040 1.000 4 2002 2012
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
257 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.020 1.000 2 2005 2009
Small cell carcinoma of lung
CUI: C0149925
Disease: Small cell carcinoma of lung
125 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2019 2019
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
Secondary malignant neoplasm of lymph node
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
188 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2008 2008
Rectal Carcinoma
CUI: C0007113
Disease: Rectal Carcinoma
112 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 1.000 3 2009 2010
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
1168 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.070 0.857 7 2004 2017
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
981 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.100 0.962 26 2003 2019
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.090 0.889 9 2002 2015
Precursor Cell Lymphoblastic Leukemia Lymphoma
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
168 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2008 2008