rs1799793, ERCC2

N. diseases: 72
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 neoplasm of skin
CUI: C0007114
Disease: Malignant neoplasm of skin
38 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.030 0.667 3 2005 2017
Skin carcinoma
CUI: C0699893
Disease: Skin carcinoma
24 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.020 0.500 2 2007 2017
Early infantile epileptic encephalopathy with suppression bursts
CUI: C0393706
Disease: Early infantile epileptic encephalopathy with suppression bursts
10 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2017 2017
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
95 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2017 2017
Opitz GBBB Syndrome, X-Linked
CUI: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
24 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2017 2017
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
348 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2017 2017
Xeroderma Pigmentosum, Complementation Group D
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
111 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.100 0.917 12 2003 2016
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
652 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.080 0.875 8 2011 2016
Squamous cell carcinoma of esophagus
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
329 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.060 1.000 6 2002 2016
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.030 0.667 3 2007 2016
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
502 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.030 0.667 3 2007 2016
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.020 1.000 2 2014 2016
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
331 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1 2016 2016
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
204 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2016 2016
Pervasive Development Disorder
CUI: C0524528
Disease: Pervasive Development Disorder
49 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.010 1.000 1 2016 2016
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
712 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.040 0.750 4 2003 2015
Head and Neck Carcinoma
CUI: C3887461
Disease: Head and Neck Carcinoma
118 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.030 0.667 3 2010 2015
Malignant Head and Neck Neoplasm
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
118 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.030 0.667 3 2010 2015
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
257 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.030 1.000 3 2002 2015
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.100 1.000 14 2001 2014
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1142 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.100 1.000 14 2001 2014
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
981 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.100 1.000 14 2001 2014
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
281 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.080 1.000 8 2007 2014
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
309 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.080 1.000 8 2007 2014
Malignant neoplasm of urinary bladder
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
316 0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29 0.080 1.000 8 2007 2014