TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2736100
rs2736100 		0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.800 1.000 20 2010 2015
dbSNP: rs2736100
rs2736100 		0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.800 1.000 19 2010 2015
dbSNP: rs2736100
rs2736100 		0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.900 0.889 18 2009 2020
dbSNP: rs2736100
rs2736100 		0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.100 1.000 18 2010 2015
dbSNP: rs10069690
rs10069690 		0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.750 1.000 11 2011 2019
dbSNP: rs2736100
rs2736100 		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) 		Neoplasms 0.880 1.000 11 2009 2016
dbSNP: rs2736098
rs2736098 		0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.100 0.900 10 2010 2018
dbSNP: rs2736098
rs2736098 		0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.100 0.900 10 2010 2018
dbSNP: rs2736098
rs2736098 		0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.090 1.000 9 2009 2018
dbSNP: rs2736098
rs2736098 		0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.090 1.000 9 2009 2018
dbSNP: rs2736098
rs2736098 		0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.090 1.000 9 2009 2018
dbSNP: rs10069690
rs10069690 		0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.750 1.000 8 2011 2019
dbSNP: rs2736100
rs2736100 		0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.080 1.000 8 2009 2016
dbSNP: rs2736100
rs2736100 		0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.080 1.000 8 2014 2019
dbSNP: rs2736100
rs2736100 		0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.070 1.000 7 2010 2017
dbSNP: rs2736100
rs2736100 		0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.070 1.000 7 2012 2018
dbSNP: rs2736100
rs2736100 		0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.070 1.000 7 2012 2018
dbSNP: rs2736100
rs2736100 		0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.060 1.000 6 2009 2016
dbSNP: rs2853676
rs2853676 		0.667 0.560 5 1288432 intron variant T/A;C snv
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.840 1.000 6 2009 2017
dbSNP: rs121918661
rs121918661 		0.882 0.120 5 1294282 missense variant C/T snv 3.2E-04 1.8E-04
CUI: C3553617
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.800 1.000 5 2005 2012
dbSNP: rs121918662
rs121918662 		0.882 0.120 5 1279341 missense variant C/T snv 7.0E-06
CUI: C3553617
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.800 1.000 5 2005 2012
dbSNP: rs121918663
rs121918663 		0.925 0.120 5 1272252 missense variant T/C snv
CUI: C3553617
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.800 1.000 5 2005 2012
dbSNP: rs121918664
rs121918664 		0.851 0.120 5 1254395 missense variant C/T snv 5.2E-05 9.1E-05
CUI: C3553617
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.700 1.000 5 2005 2012
dbSNP: rs121918666
rs121918666 		0.882 0.160 5 1266524 missense variant C/T snv 8.2E-06 7.0E-06
CUI: C3553617
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.800 1.000 5 2005 2012
dbSNP: rs141425941
rs141425941 		0.925 0.040 5 1272196 missense variant C/T snv 9.0E-05 1.5E-04
CUI: C3553617
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 		0.700 1.000 5 2005 2012