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: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.750 1.000 11 2011 2019
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.750 1.000 8 2011 2019
dbSNP: rs2853676
rs2853676
TERT
0.667 0.560 5 1288432 intron variant T/A;C snv
CUI: C0017638
Disease: Glioma
Glioma 		0.840 1.000 6 2009 2017
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.710 1.000 3 2015 2018
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.710 1.000 3 2015 2018
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.030 1.000 3 2016 2019
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0017638
Disease: Glioma
Glioma 		0.700 1.000 3 2015 2018
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.030 1.000 3 2016 2019
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.720 1.000 3 2016 2019
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: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		0.020 1.000 2 2016 2019
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.710 1.000 2 2016 2017
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		0.700 1.000 2 2015 2017
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2018 2019
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.800 1.000 2 2013 2019
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2013 2019
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.020 1.000 2 2015 2016
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.020 1.000 2 2011 2016
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2013 2019
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.020 1.000 2 2019 2019
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.020 1.000 2 2016 2019
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: 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.710 1.000 2 2013 2016
dbSNP: rs2853676
rs2853676
TERT
0.667 0.560 5 1288432 intron variant T/A;C snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.020 1.000 2 2014 2015