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: 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: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
Neoplasms 0.880 1.000 11 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: rs2736100
rs2736100
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
Respiratory Tract Diseases 0.840 1.000 4 2008 2019
dbSNP: rs2853677
rs2853677
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)
Neoplasms 0.810 1.000 3 2012 2016
dbSNP: rs2736100
rs2736100
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
Respiratory Tract Diseases 0.810 1.000 2 2013 2014
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: rs121918661
rs121918661
0.882 0.120 5 1294282 missense variant C/T snv 3.2E-04 1.8E-04
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
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
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
0.800 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
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
0.800 1.000 5 2005 2012
dbSNP: rs2736100
rs2736100
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
Neoplasms; Nervous System Diseases 0.800 1.000 5 2009 2014
dbSNP: rs387907249
rs387907249
1.000 5 1278781 missense variant C/T snv
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
0.800 1.000 5 2005 2012
dbSNP: rs387907250
rs387907250
1.000 5 1264542 missense variant T/C snv
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
0.800 1.000 5 2005 2012
dbSNP: rs387907251
rs387907251
1.000 5 1264479 missense variant G/A snv 4.0E-06
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
0.800 1.000 5 2005 2012
dbSNP: rs121918665
rs121918665
0.925 0.120 5 1264541 missense variant C/G snv 4.0E-06
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
0.800 1.000 3 2005 2011
dbSNP: rs2736100
rs2736100
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
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.800 1.000 3 2013 2017
dbSNP: rs10069690
rs10069690
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 2 2013 2019
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: 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: rs2853669
rs2853669
0.649 0.320 5 1295234 upstream gene variant A/G snv 0.25
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.740 0.800 5 2016 2018
dbSNP: rs2853677
rs2853677
0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.740 1.000 4 2016 2019
dbSNP: rs10069690
rs10069690
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
Neoplasms; Endocrine System Diseases 0.720 1.000 3 2016 2019
dbSNP: rs10069690
rs10069690
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
Neoplasms 0.710 1.000 3 2015 2018