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.
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
168 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.100 0.950 20 2006 2019
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.100 1.000 45 2006 2020
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
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 of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.100 0.981 103 2005 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
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
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
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
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
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
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
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
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
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 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
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