Source: ALL

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: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.740 0.800 5 2016 2018
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 0.750 4 2015 2018
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 1.000 4 2015 2018
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.040 0.750 4 2016 2018
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.040 1.000 4 2015 2017
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.030 1.000 3 2013 2018
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.030 1.000 3 2013 2018
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.030 1.000 3 2013 2018
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 1.000 3 2015 2015
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.020 1.000 2 2016 2017
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.020 1.000 2 2016 2017
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 < 0.001 1 2015 2015
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		0.010 1.000 1 2013 2013
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		0.010 1.000 1 2015 2015
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2018 2018
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		0.010 1.000 1 2016 2016
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2015 2015
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C2717836
Disease: Steroid Sulfatase Deficiency Disease
Steroid Sulfatase Deficiency Disease 		0.010 1.000 1 2016 2016
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.010 1.000 1 2016 2016
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 < 0.001 1 2015 2015
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.010 1.000 1 2016 2016
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs2853669
rs2853669
TERT
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		0.010 1.000 1 2012 2012