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: rs2242652
rs2242652
TERT
0.724 0.400 5 1279913 intron variant G/A snv 0.18
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.710 1.000 3 2011 2018
dbSNP: rs2242652
rs2242652
TERT
0.724 0.400 5 1279913 intron variant G/A snv 0.18
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.710 1.000 2 2011 2013
dbSNP: rs2242652
rs2242652
TERT
0.724 0.400 5 1279913 intron variant G/A snv 0.18
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.710 1.000 2 2013 2016
dbSNP: rs2242652
rs2242652
TERT
0.724 0.400 5 1279913 intron variant G/A snv 0.18
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.020 1.000 2 2015 2019
dbSNP: rs2242652
rs2242652
TERT
0.724 0.400 5 1279913 intron variant G/A snv 0.18
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs2242652
rs2242652
TERT
0.724 0.400 5 1279913 intron variant G/A snv 0.18
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2017 2017
dbSNP: rs2242652
rs2242652
TERT
0.724 0.400 5 1279913 intron variant G/A snv 0.18
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		0.010 1.000 1 2017 2017
dbSNP: rs2242652
rs2242652
TERT
0.724 0.400 5 1279913 intron variant G/A snv 0.18
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2017 2017
dbSNP: rs2242652
rs2242652
TERT
0.724 0.400 5 1279913 intron variant G/A snv 0.18
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2011 2011
dbSNP: rs2242652
rs2242652
TERT
0.724 0.400 5 1279913 intron variant G/A snv 0.18
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2013 2013
dbSNP: rs2242652
rs2242652
TERT
0.724 0.400 5 1279913 intron variant G/A snv 0.18
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs2242652
rs2242652
TERT
0.724 0.400 5 1279913 intron variant G/A snv 0.18
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2017 2017
dbSNP: rs2242652
rs2242652
TERT
0.724 0.400 5 1279913 intron variant G/A snv 0.18
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs2242652
rs2242652
TERT
0.724 0.400 5 1279913 intron variant G/A snv 0.18
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		0.010 1.000 1 2018 2018
dbSNP: rs2242652
rs2242652
TERT
0.724 0.400 5 1279913 intron variant G/A snv 0.18
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2013 2013
dbSNP: rs2242652
rs2242652
TERT
0.724 0.400 5 1279913 intron variant G/A snv 0.18
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2017 2017