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.
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06 0.020 1.000 2 2016 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06 0.020 1.000 2 2011 2016
Endocardial Cushion Defects
CUI: C0014116
Disease: Endocardial Cushion Defects
4 0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06 0.010 1.000 1 2015 2015
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1142 0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06 0.010 1.000 1 2016 2016
melanoma
CUI: C0025202
Disease: melanoma
515 0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06 0.010 1.000 1 2016 2016
Neurilemmoma
CUI: C0027809
Disease: Neurilemmoma
11 0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06 0.010 1.000 1 2013 2013
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
981 0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06 0.010 1.000 1 2016 2016
Split hand foot deformity 1
CUI: C2931019
Disease: Split hand foot deformity 1
8 0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06 0.010 1.000 1 2015 2015