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.
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.030 1.000 3 2016 2018
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
327 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.030 1.000 3 2016 2018
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 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
CUI: C4722085
Disease: 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
1082 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.020 1.000 2 2019 2019
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
615 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.020 1.000 2 2018 2018
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.020 1.000 2 2017 2019
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
1168 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.020 1.000 2 2019 2019
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
652 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.020 1.000 2 2018 2018
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
267 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
281 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
2793 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
1204 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
17 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
65 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
704 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
3417 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
1142 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
1641 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
178 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 0.010 1.000 1 2018 2018