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.
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
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
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
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
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
Metastatic non-small cell lung cancer
CUI: C0278987
Disease: Metastatic non-small cell lung cancer
11 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.070 1.000 7 2014 2018
CNS metastases
CUI: C0686377
Disease: CNS metastases
14 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.060 1.000 6 2014 2020
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
85 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.030 1.000 3 2014 2018
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
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
Tumor Progression
CUI: C0178874
Disease: Tumor Progression
72 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.040 1.000 4 2016 2019
HER2 gene amplification
CUI: C1512127
Disease: HER2 gene amplification
14 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.050 1.000 5 2017 2019
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
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
Squamous cell carcinoma, keratinizing
CUI: C0334247
Disease: Squamous cell carcinoma, keratinizing
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
stage, non-small cell lung cancer
CUI: C0280217
Disease: stage, non-small cell lung cancer
6 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2017 2017