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.
Carcinoma, Small Cell
CUI: C0262584
Disease: Carcinoma, Small Cell
7 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.020 1.000 2 2013 2017
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.020 1.000 2 2018 2019
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.020 1.000 2 2014 2014
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.020 1.000 2 2013 2015
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
502 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.020 1.000 2 2018 2019
melanoma
CUI: C0025202
Disease: melanoma
515 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.020 1.000 2 2018 2019
Meningeal Carcinomatosis
CUI: C0220654
Disease: Meningeal Carcinomatosis
1 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.020 1.000 2 2013 2017
Refractory cancer
CUI: C0677936
Disease: Refractory cancer
9 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.020 1.000 2 2009 2013
Secondary malignant neoplasm of liver
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
34 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.020 1.000 2 2017 2019
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
169 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.020 0.500 2 2013 2016
Adenosquamous carcinoma
CUI: C0206623
Disease: Adenosquamous carcinoma
3 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1 2011 2011
Anaplastic large B-cell lymphoma
CUI: C1321546
Disease: Anaplastic large B-cell lymphoma
1 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2017 2017
Barrett Esophagus
CUI: C0004763
Disease: Barrett Esophagus
60 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2006 2006
Carcinoma, Large Cell
CUI: C0206704
Disease: Carcinoma, Large Cell
6 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1 2011 2011
Carcinoma, Spindle-Cell
CUI: C0205697
Disease: Carcinoma, Spindle-Cell
5 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2017 2017
Cervical Intraepithelial Neoplasia
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
29 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2020 2020
Cervical Squamous Intraepithelial Neoplasia
CUI: C1332922
Disease: Cervical Squamous Intraepithelial Neoplasia
3 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2020 2020
Dissecting aneurysm of the thoracic aorta
CUI: C0729233
Disease: Dissecting aneurysm of the thoracic aorta
3 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2015 2015
Epidermal growth factor receptor positive non-small cell lung cancer
CUI: C1960925
Disease: Epidermal growth factor receptor positive non-small cell lung cancer
1 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2017 2017
Hashimoto Disease
CUI: C0677607
Disease: Hashimoto Disease
131 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2018 2018
HER2-positive carcinoma of breast
CUI: C1960398
Disease: HER2-positive carcinoma of breast
26 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2018 2018
Hydrothorax
CUI: C0020312
Disease: Hydrothorax
1 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2019 2019
Large cell neuroendocrine carcinoma
CUI: C1265996
Disease: Large cell neuroendocrine carcinoma
3 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2017 2017
Laryngeal Squamous Cell Carcinoma
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
30 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2014 2014
Leptomeningeal Neoplasms
CUI: C0751297
Disease: Leptomeningeal Neoplasms
3 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2019 2019