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.
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.740 0.800 5 2016 2019
Systolic Pressure
CUI: C0871470
Disease: Systolic Pressure
1931 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.700 1.000 2 2017 2018
Diastolic blood pressure
CUI: C0428883
Disease: Diastolic blood pressure
1037 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.700 1.000 1 2018 2018
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.050 0.800 5 2016 2019
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.050 0.800 5 2016 2019
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.040 0.750 4 2016 2019
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
281 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.020 1.000 2 2016 2019
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
309 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.020 1.000 2 2016 2019
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
231 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.020 0.500 2 2019 2019
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
231 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.020 0.500 2 2019 2019
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
704 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.020 1.000 2 2018 2019
Malignant neoplasm of urinary bladder
316 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.020 1.000 2 2016 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.020 1.000 2 2016 2019
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
386 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.020 0.500 2 2019 2019
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
168 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.010 1.000 1 2018 2018
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
1204 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.010 1.000 1 2018 2018
cervical cancer
CUI: C4048328
Disease: cervical cancer
268 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.010 1.000 1 2016 2016
Cervix carcinoma
CUI: C0302592
Disease: Cervix carcinoma
283 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.010 1.000 1 2016 2016
Childhood Osteosarcoma
CUI: C1332986
Disease: Childhood Osteosarcoma
151 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.010 1.000 1 2017 2017
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.010 1.000 1 2016 2016
Diabetes Mellitus, Non-Insulin-Dependent
2672 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.010 1.000 1 2018 2018
Intracranial Aneurysm
CUI: C0007766
Disease: Intracranial Aneurysm
150 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.010 1.000 1 2019 2019
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.010 1.000 1 2019 2019
Malignant neoplasm of colon and/or rectum
502 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.010 1.000 1 2016 2016
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
1142 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.010 1.000 1 2018 2018