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.
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
87 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.730 1.000 15 1997 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
4866 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.700 10 1994 2015
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
1839 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.100 0.875 24 2003 2014
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
1365 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.100 0.875 24 2003 2014
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
735 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.100 0.909 11 2001 2015
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
400 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.100 0.909 11 2001 2015
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
409 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.100 0.909 11 2001 2015
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
419 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.080 0.875 8 2005 2016
melanoma
CUI: C0025202
Disease: melanoma
389 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.080 1.000 8 2006 2017
Colorectal Cancer
CUI: C1527249
Disease: Colorectal Cancer
955 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.060 0.833 6 2006 2013
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
224 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.060 0.833 6 1999 2013
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
539 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.060 0.833 6 2006 2013
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
203 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.050 1.000 5 2012 2017
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
362 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.050 1.000 5 2006 2012
Malignant neoplasm of skin
CUI: C0007114
Disease: Malignant neoplasm of skin
23 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.040 1.000 4 2006 2014
Cervix carcinoma
CUI: C0302592
Disease: Cervix carcinoma
100 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.040 1.000 4 2004 2017
Lymphoma, Non-Hodgkin
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
154 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.040 0.750 4 2004 2015
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
303 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.040 1.000 4 2005 2015
Glioma
CUI: C0017638
Disease: Glioma
180 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.030 1.000 3 2013 2014
Malignant tumor of cervix
CUI: C0007847
Disease: Malignant tumor of cervix
79 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.030 1.000 3 2004 2017
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
341 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.030 0.667 3 2008 2015
Malignant neoplasm of esophagus
CUI: C0546837
Disease: Malignant neoplasm of esophagus
66 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.030 1.000 3 2009 2014
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
106 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.030 1.000 3 2005 2013
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
145 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.030 1.000 3 2005 2013
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
364 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.030 0.667 3 2008 2015