Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs145204276
rs145204276
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.030 1.000 3 2016 2018
dbSNP: rs145204276
rs145204276
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.030 1.000 3 2016 2018
dbSNP: rs145204276
rs145204276
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.020 1.000 2 2018 2018
dbSNP: rs145204276
rs145204276
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
Malignant neoplasm of colon and/or rectum
0.020 1.000 2 2017 2018
dbSNP: rs145204276
rs145204276
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 1.000 2 2017 2019
dbSNP: rs145204276
rs145204276
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.020 1.000 2 2019 2019
dbSNP: rs145204276
rs145204276
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.020 1.000 2 2018 2018
dbSNP: rs145204276
rs145204276
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.020 1.000 2 2019 2019
dbSNP: rs145204276
rs145204276
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 1.000 2 2017 2018
dbSNP: rs145204276
rs145204276
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 1.000 1 2018 2018
dbSNP: rs145204276
rs145204276
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 1.000 1 2018 2018
dbSNP: rs145204276
rs145204276
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 1.000 1 2017 2017
dbSNP: rs145204276
rs145204276
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
Secondary malignant neoplasm of lymph node
0.010 1.000 1 2019 2019
dbSNP: rs145204276
rs145204276
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.010 1.000 1 2018 2018
dbSNP: rs145204276
rs145204276
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
0.010 1.000 1 2019 2019
dbSNP: rs145204276
rs145204276
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.010 1.000 1 2018 2018
dbSNP: rs145204276
rs145204276
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 1.000 1 2017 2017
dbSNP: rs145204276
rs145204276
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 1.000 1 2017 2017
dbSNP: rs145204276
rs145204276
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 1.000 1 2019 2019
dbSNP: rs145204276
rs145204276
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 1.000 1 2017 2017
dbSNP: rs145204276
rs145204276
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.010 1.000 1 2018 2018
dbSNP: rs145204276
rs145204276
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2019 2019
dbSNP: rs145204276
rs145204276
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
CUI: C0279606
Disease: Childhood Hepatocellular Carcinoma
Childhood Hepatocellular Carcinoma
0.010 1.000 1 2018 2018
dbSNP: rs145204276
rs145204276
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.010 1.000 1 2018 2018
dbSNP: rs145204276
rs145204276
0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
0.010 1.000 1 2018 2018