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.
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
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
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
progressive non-small cell lung cancer
CUI: C4733576
Disease: progressive 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 2019 2019
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
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
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
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
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
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
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
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
Tumor Angiogenesis
CUI: C1519670
Disease: Tumor Angiogenesis
5 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2019 2019
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
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
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
Primary Lesion
CUI: C1402294
Disease: Primary Lesion
8 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2019 2019
Metastatic Malignant Neoplasm to the Leptomeninges
CUI: C1704231
Disease: Metastatic Malignant Neoplasm to the Leptomeninges
9 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.060 1.000 6 2013 2019
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
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 Lung Adenocarcinoma
CUI: C4744444
Disease: Metastatic Lung Adenocarcinoma
10 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.030 1.000 3 2011 2018
Signs and Symptoms, Respiratory
CUI: C0037090
Disease: Signs and Symptoms, Respiratory
10 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2018 2018