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.
Sarcoma
CUI: C1261473
Disease: Sarcoma
42 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2019 2019
Secondary malignant neoplasm of bone
CUI: C0153690
Disease: Secondary malignant neoplasm of bone
18 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2019 2019
Secondary malignant neoplasm of lung
CUI: C0153676
Disease: Secondary malignant neoplasm of lung
20 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2020 2020
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
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
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
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
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
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
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
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
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
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
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