Source: GWASCAT

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: rs2736100
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C0017638
Disease: Glioma
Glioma 		0.900 0.889 6 2009 2020
dbSNP: rs2736100
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.880 1.000 4 2009 2016
dbSNP: rs2736100
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.840 1.000 1 2008 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 1 2009 2017
dbSNP: rs2853677
rs2853677
TERT
0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.810 1.000 2 2012 2016
dbSNP: rs2736100
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.810 1.000 1 2013 2014
dbSNP: rs2736100
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		0.800 1.000 5 2009 2014
dbSNP: rs2736100
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.800 1.000 2 2010 2015
dbSNP: rs2736100
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		0.800 1.000 2 2013 2017
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 1 2013 2019
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 6 2011 2019
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 1 2016 2018
dbSNP: rs2853677
rs2853677
TERT
0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.740 1.000 1 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 1 2016 2019
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 2 2015 2018
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 2 2015 2018
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 2 2011 2018
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 1 2016 2017
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 1 2013 2016
dbSNP: rs7726159
rs7726159
TERT
0.790 0.160 5 1282204 intron variant C/A snv 0.29
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.710 1.000 1 2015 2016
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: rs2735940
rs2735940
TERT
0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 1.000 3 2019 2019
dbSNP: rs2735940
rs2735940
TERT
0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 3 2019 2019
dbSNP: rs2735940
rs2735940
TERT
0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 3 2019 2019
dbSNP: rs2735940
rs2735940
TERT
0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 3 2019 2019