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.
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
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
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
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
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
Lung Diseases, Interstitial
CUI: C0206062
Disease: Lung Diseases, Interstitial
144 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2019 2019
Malignant neoplasm of soft tissue
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
32 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 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
Multiple Chronic Conditions
CUI: C3266262
Disease: Multiple Chronic Conditions
42 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2018 2018
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
Pleural effusion disorder
CUI: C0032227
Disease: Pleural effusion disorder
14 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2018 2018
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
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