rs759412116, ERCC2

N. diseases: 55
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, Complementation Group D
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
111 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.100 0.917 12 2004 2015
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.100 1.000 10 2003 2015
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1142 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.100 1.000 10 2003 2015
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
981 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.100 1.000 10 2003 2015
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.060 0.833 6 2005 2019
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.060 0.833 6 2005 2019
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
712 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.050 1.000 5 2004 2013
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.040 1.000 4 2005 2012
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
502 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.030 1.000 3 2005 2012
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
1082 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.030 1.000 3 2004 2012
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
615 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.030 1.000 3 2010 2018
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
1168 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.030 1.000 3 2004 2012
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
652 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.030 1.000 3 2010 2018
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
CUI: C2752147
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
82 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.030 1.000 3 2005 2015
Congenital chromosomal disease
CUI: C0008626
Disease: Congenital chromosomal disease
47 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.020 1.000 2 2004 2012
Head and Neck Carcinoma
CUI: C3887461
Disease: Head and Neck Carcinoma
118 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.020 1.000 2 2005 2014
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.020 1.000 2 2014 2016
Malignant Head and Neck Neoplasm
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
118 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.020 1.000 2 2005 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.020 1.000 2 2013 2017
Sporadic Breast Carcinoma
CUI: C1336076
Disease: Sporadic Breast Carcinoma
46 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.020 1.000 2 2007 2009
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
168 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2010 2010
Adenocarcinoma Of Esophagus
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
81 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2005 2005
Age-related cataract
CUI: C0036646
Disease: Age-related cataract
15 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2015 2015
AIDS related complex
CUI: C0001857
Disease: AIDS related complex
43 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2014 2014
Barrett Esophagus
CUI: C0004763
Disease: Barrett Esophagus
60 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2005 2005