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.
Adult Hepatocellular Carcinoma
CUI: C0279607
Disease: Adult Hepatocellular Carcinoma
14 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2018 2018
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
266 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2018 2018
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
271 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2018 2018
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2145 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2019 2019
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2017 2017
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
995 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2017 2017
Childhood Hepatocellular Carcinoma
CUI: C0279606
Disease: Childhood Hepatocellular Carcinoma
14 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2018 2018
Childhood Osteosarcoma
CUI: C1332986
Disease: Childhood Osteosarcoma
151 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2018 2018
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
43 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2019 2019
Hepatocarcinogenesis
CUI: C1512409
Disease: Hepatocarcinogenesis
24 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2015 2015
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
586 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2018 2018
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
2154 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2019 2019
Malignant neoplasm of liver
CUI: C0345904
Disease: Malignant neoplasm of liver
88 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2018 2018
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1000 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2017 2017
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1441 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2018 2018
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
155 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2018 2018
Osteosarcoma of bone
CUI: C0585442
Disease: Osteosarcoma of bone
151 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2018 2018
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2018 2018
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
981 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2017 2017
Secondary malignant neoplasm of lymph node
188 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2019 2019
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
169 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2019 2019
Tumor Progression
CUI: C0178874
Disease: Tumor Progression
72 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2018 2018
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
769 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.020 1.000 2 2017 2018
Malignant neoplasm of colon and/or rectum
502 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.020 1.000 2 2017 2018
Malignant neoplasm of prostate
CUI: C0376358
Disease: Malignant neoplasm of prostate
861 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.020 1.000 2 2019 2019