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.
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
Lesion of brain
CUI: C0221505
Disease: Lesion of brain
9 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2006 2006
Metastatic Malignant Neoplasm in the Viscera
CUI: C4725861
Disease: Metastatic Malignant Neoplasm in the Viscera
2 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2006 2006
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
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
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
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
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
Thymoma
CUI: C0040100
Disease: Thymoma
20 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2014 2014
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 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 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
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
Non-small cell lung cancer recurrent
CUI: C0278517
Disease: Non-small cell lung cancer recurrent
4 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.030 1.000 3 2011 2016
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
257 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.030 0.667 3 2011 2016
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
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
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
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
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
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
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
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA
CUI: C1851585
Disease: MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA
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
Nodule
CUI: C0028259
Disease: Nodule
19 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2017 2017
Secondary malignant neoplasm of lymph node
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
188 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 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 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2017 2017