chr5:1286516:C>A Detail (hg19) (TERT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:1,286,516-1,286,516 |
| hg38 | chr5:1,286,401-1,286,401 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001193376.1:c.1574-3777G>T | |
| NM_198253.2:c.1574-3777G>T | ||
| Ensemble | ENST00000310581.10:c.1574-3777G>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.604 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
association
|
2016-09-01 | no assertion criteria provided | Chronic osteomyelitis |
tested-inconclusive
|
Detail |
|
association
|
2021-05-04 | no assertion criteria provided | interstitial lung disease 2 |
germline
|
Detail |
Uncertain significance
|
2021-05-04 | no assertion criteria provided | chronic obstructive pulmonary disease |
germline
|
Detail |
|
association
|
2021-05-04 | no assertion criteria provided | Combined pulmonary fibrosis-emphysema syndrome |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, single submitter | Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2 |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, single submitter | Idiopathic Pulmonary Fibrosis,Dyskeratosis congenita, autosomal dominant 2 |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| brain glioma | B |
Predisposing
|
Supports
|
Positive | Common Germline | 2 | 26765760 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.130 | Glioma | Seven independent chromosomal loci have robustly been associated with glioma ris... | BeFree | 21825990 | Detail |
| 0.257 | Glioma | Seven independent chromosomal loci have robustly been associated with glioma ris... | BeFree | 21825990 | Detail |
| 0.223 | Glioma | Seven independent chromosomal loci have robustly been associated with glioma ris... | BeFree | 21825990 | Detail |
| 0.173 | Glioma | Genome-wide association studies have identified single-nucleotide polymorphisms ... | BeFree | 23161787 | Detail |
| 0.252 | Glioma | Genome-wide association studies have identified single-nucleotide polymorphisms ... | BeFree | 23161787 | Detail |
| 0.257 | Glioma | Genome-wide association studies have identified single-nucleotide polymorphisms ... | BeFree | 23161787 | Detail |
| 0.269 | Glioma | Seven independent chromosomal loci have robustly been associated with glioma ris... | BeFree | 21825990 | Detail |
| 0.136 | Glioma | Seven independent chromosomal loci have robustly been associated with glioma ris... | BeFree | 21825990 | Detail |
| 0.136 | Glioma | Genome-wide association studies have identified single-nucleotide polymorphisms ... | BeFree | 23161787 | Detail |
| 0.252 | Glioma | Seven independent chromosomal loci have robustly been associated with glioma ris... | BeFree | 21825990 | Detail |
| 0.130 | Glioma | Genome-wide association studies have identified single-nucleotide polymorphisms ... | BeFree | 23161787 | Detail |
| <0.001 | Smoker's lung | To examine if variation at any of these loci influences the risk of lung cancer ... | BeFree | 19955392 | Detail |
| 0.143 | Malignant neoplasm of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
| <0.001 | Malignant neoplasm of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
| <0.001 | Carcinoma of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
| <0.001 | Malignant neoplasm of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
| <0.001 | Malignant neoplasm of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
| <0.001 | Carcinoma of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
| <0.001 | Carcinoma of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
| <0.001 | Carcinoma of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
| 0.155 | Malignant neoplasm of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
| <0.001 | Carcinoma of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
| 0.015 | Carcinoma of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
| 0.121 | Malignant neoplasm of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
| 0.125 | Malignant neoplasm of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
| <0.001 | Malignant neoplasm of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
| 0.009 | Carcinoma of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
| 0.003 | Carcinoma of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
| <0.001 | Colonic Polyps | None of the investigated TERT SNPs (rs2736122, rs2853676, rs2735940, rs2736098, ... | BeFree | 22495810 | Detail |
| 0.008 | Malignant neoplasm of urinary bladder | In the meta-analysis, the reported risk allele for four SNPs were significantly ... | BeFree | 22711262 | Detail |
| 0.004 | Carcinoma of bladder | In the meta-analysis, the reported risk allele for four SNPs were significantly ... | BeFree | 22711262 | Detail |
| 0.129 | Malignant neoplasm of urinary bladder | In the meta-analysis, the reported risk allele for four SNPs were significantly ... | BeFree | 22711262 | Detail |
| 0.007 | Carcinoma of bladder | In the meta-analysis, the reported risk allele for four SNPs were significantly ... | BeFree | 22711262 | Detail |
| 0.012 | Malignant neoplasm of urinary bladder | In the meta-analysis, the reported risk allele for four SNPs were significantly ... | BeFree | 22711262 | Detail |
| 0.123 | Malignant neoplasm of urinary bladder | In the meta-analysis, the reported risk allele for four SNPs were significantly ... | BeFree | 22711262 | Detail |
| <0.001 | Carcinoma of bladder | In the meta-analysis, the reported risk allele for four SNPs were significantly ... | BeFree | 22711262 | Detail |
| 0.003 | Carcinoma of bladder | In the meta-analysis, the reported risk allele for four SNPs were significantly ... | BeFree | 22711262 | Detail |
| <0.001 | Leukemia, Lymphocytic, Acute, L1 | Our findings suggested that TERT promoter rs2735940 polymorphism may affect the ... | BeFree | 23066086 | Detail |
| 0.002 | glioblastoma | Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.3... | BeFree | 21350045 | Detail |
| <0.001 | glioblastoma | Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.3... | BeFree | 21350045 | Detail |
| 0.257 | Glioma | Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.3... | BeFree | 21350045 | Detail |
| 0.018 | glioblastoma | Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.3... | BeFree | 21350045 | Detail |
| 0.252 | Glioma | Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.3... | BeFree | 21350045 | Detail |
| 0.269 | Glioma | Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.3... | BeFree | 21350045 | Detail |
| 0.006 | Non-small cell lung carcinoma | TERT rs2736100T/G polymorphism upregulates interleukin 6 expression in non-small... | BeFree | 24420154 | Detail |
| 0.155 | Malignant neoplasm of lung | We then found that GRSs used as instrumental variables to predict longer telomer... | BeFree | 25516442 | Detail |
| 0.269 | Glioma | We conducted a new independent GWAS of glioma using 1,856 cases and 4,955 contro... | GWASCAT | 22886559 | Detail |
| 0.136 | Glioma | We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x ... | BeFree | 19578367 | Detail |
| 0.136 | Glioma | Genome-wide association data have identified common genetic variants at 5p15.33 ... | BeFree | 20462933 | Detail |
| 0.173 | Glioma | In analyses including glioma cases with a family history of brain tumours (n = 1... | BeFree | 23115063 | Detail |
| <0.001 | colorectal carcinoma | The rs2736100 association demonstrates an influence of variation at 5p15.33 on C... | BeFree | 22878375 | Detail |
| 0.257 | Glioma | We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x ... | BeFree | 19578367 | Detail |
| 0.012 | Brain Neoplasms | In analyses including glioma cases with a family history of brain tumours (n = 1... | BeFree | 23115063 | Detail |
| 0.005 | colorectal carcinoma | The TERT variant rs2736100 is associated with colorectal cancer risk. | BeFree | 22878375 | Detail |
| 0.155 | Malignant neoplasm of lung | After the 2nd stage validation (975 cases versus 1022 controls), the study clari... | BeFree | 23368278 | Detail |
| 0.493 | Idiopathic Pulmonary Fibrosis | [A genome-wide association study identifies an association of a common variant i... | GAD | 18835860 | Detail |
| 0.155 | Malignant neoplasm of lung | Longer telomere length in peripheral white blood cells is associated with risk o... | BeFree | 23555636 | Detail |
| <0.001 | Chromosome 10, monosomy 10q | rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-gr... | BeFree | 23161787 | Detail |
| 0.130 | Glioma | Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC... | BeFree | 20212223 | Detail |
| 0.252 | Glioma | Genome-wide association studies have recently identified single-nucleotide polym... | BeFree | 20847058 | Detail |
| 0.243 | Adenocarcinoma of lung (disorder) | A recent genome-wide association study of lung cancer among never-smoking female... | BeFree | 23555636 | Detail |
| 0.269 | Glioma | Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC... | BeFree | 20212223 | Detail |
| 0.269 | Glioma | [Combinations of newly confirmed Glioma-Associated loci link regions on chromoso... | GAD | 21827660 | Detail |
| 0.127 | Adenocarcinoma of lung (disorder) | [a lung cancer GWAS identified a distinct hereditary contribution to adenocarcin... | GAD | 19836008 | Detail |
| 0.173 | Glioma | Genome-wide association data have identified common genetic variants at 5p15.33 ... | BeFree | 20462933 | Detail |
| 0.155 | Malignant neoplasm of lung | TERT genetic polymorphism rs2736100 was associated with lung cancer: a meta-anal... | BeFree | 24283584 | Detail |
| <0.001 | nicotine dependence | Gene variations rs2736100 and rs2853676 in TERT and rs401681 and rs31489 in CLPT... | BeFree | 25233467 | Detail |
| 0.128 | Non-small cell lung carcinoma | TERT rs2736100T/G polymorphism upregulates interleukin 6 expression in non-small... | BeFree | 24420154 | Detail |
| 0.493 | Idiopathic Pulmonary Fibrosis | Associations between 2 polymorphisms in TERT (rs2736100) and MUC5B (rs35705950) ... | BeFree | 24434656 | Detail |
| <0.001 | Chromosome 10, monosomy 10q | rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-gr... | BeFree | 23161787 | Detail |
| <0.001 | Chromosome 10, monosomy 10q | rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-gr... | BeFree | 23161787 | Detail |
| 0.364 | Idiopathic Pulmonary Fibrosis | Associations between 2 polymorphisms in TERT (rs2736100) and MUC5B (rs35705950) ... | BeFree | 24434656 | Detail |
| 0.269 | Glioma | Combinations of newly confirmed Glioma-Associated loci link regions on chromosom... | GWASCAT | 21827660 | Detail |
| 0.003 | colorectal cancer | The TERT variant rs2736100 is associated with colorectal cancer risk. | BeFree | 22878375 | Detail |
| 0.130 | Glioma | Genome-wide association studies have recently identified single-nucleotide polym... | BeFree | 20847058 | Detail |
| 0.173 | Glioma | Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC... | BeFree | 20212223 | Detail |
| 0.252 | Glioma | Genome-wide association data have identified common genetic variants at 5p15.33 ... | BeFree | 20462933 | Detail |
| 0.015 | Carcinoma of lung | Increased lung cancer risk associated with the TERT rs2736100 polymorphism: an u... | BeFree | 24590268 | Detail |
| 0.128 | Non-small cell lung carcinoma | We found that rs2736100C allele in TERT gene was associated with a significantly... | BeFree | 19369581 | Detail |
| 0.015 | Carcinoma of lung | We identified one novel variant at the level corrected for multiple comparisons ... | BeFree | 23370545 | Detail |
| 0.269 | Glioma | Genome-wide association data have identified common genetic variants at 5p15.33 ... | BeFree | 20462933 | Detail |
| 0.136 | Glioma | Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC... | BeFree | 20212223 | Detail |
| 0.121 | Lung Diseases, Interstitial | Genome-wide association study identifies multiple susceptibility loci for pulmon... | GWASCAT | 23583980 | Detail |
| 0.136 | Glioma | Genome-wide association studies have recently identified single-nucleotide polym... | BeFree | 20847058 | Detail |
| 0.269 | Glioma | Association between telomerase reverse transcriptase rs2736100 polymorphism and ... | BeFree | 24888789 | Detail |
| 0.003 | Malignant neoplasm of lung | We identified one novel variant at the level corrected for multiple comparisons ... | BeFree | 23370545 | Detail |
| 0.130 | Glioma | We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x ... | BeFree | 19578367 | Detail |
| 0.015 | Carcinoma of lung | Longer telomere length in peripheral white blood cells is associated with risk o... | BeFree | 23555636 | Detail |
| 0.006 | Brain Neoplasms | In analyses including glioma cases with a family history of brain tumours (n = 1... | BeFree | 23115063 | Detail |
| <0.001 | Coronary heart disease | The aim of the present study was to determine whether six variants in the TERT g... | BeFree | 26201603 | Detail |
| 0.136 | Glioma | In analyses including glioma cases with a family history of brain tumours (n = 1... | BeFree | 23115063 | Detail |
| 0.155 | Malignant neoplasm of lung | TERT rs2736100 polymorphism contributes to lung cancer risk: a meta-analysis inc... | BeFree | 24535778 | Detail |
| 0.004 | atherosclerosis | The GG genotype of telomerase reverse transcriptase at genetic locus rs2736100 i... | BeFree | 24465664 | Detail |
| <0.001 | Chromosome 10, monosomy 10q | rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-gr... | BeFree | 23161787 | Detail |
| 0.015 | Carcinoma of lung | DQA1*03 and the minor allele for a polymorphism, rs2736100, in TERT, another lun... | BeFree | 20061363 | Detail |
| 0.257 | Glioma | Genome-wide association studies have recently identified single-nucleotide polym... | BeFree | 20847058 | Detail |
| 0.130 | Glioma | Genome-wide association data have identified common genetic variants at 5p15.33 ... | BeFree | 20462933 | Detail |
| 0.173 | Glioma | We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x ... | BeFree | 19578367 | Detail |
| <0.001 | Ischemic stroke | The aim of the present study was to determine whether six variants in the TERT g... | BeFree | 26201603 | Detail |
| 0.157 | Lung Neoplasms | [A genome-wide association study identifies two new lung cancer susceptibility l... | GAD | 21725308 | Detail |
| 0.002 | Testicular Neoplasms | [Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell c... | GAD | 20543847 | Detail |
| 0.257 | Glioma | Genome-wide association data have identified common genetic variants at 5p15.33 ... | BeFree | 20462933 | Detail |
| 0.136 | Brain Neoplasms | In analyses including glioma cases with a family history of brain tumours (n = 1... | BeFree | 23115063 | Detail |
| 0.155 | Malignant neoplasm of lung | TERT polymorphism (rs2736100) might be a genetic susceptibility factor for lung ... | BeFree | 25037574 | Detail |
| 0.493 | Idiopathic Pulmonary Fibrosis | A genome-wide association study identifies an association of a common variant in... | GWASCAT | 18835860 | Detail |
| 0.120 | Testicular malignant germ cell tumor | Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell ca... | GWASCAT | 20543847 | Detail |
| 0.269 | Glioma | The role of telomerase reverse transcriptase (TERT) in gliomagenesis has been re... | BeFree | 25314060 | Detail |
| 0.009 | Carcinoma of lung | Longer telomere length in peripheral white blood cells is associated with risk o... | BeFree | 23555636 | Detail |
| 0.157 | Lung Neoplasms | [, a lung cancer GWAS identified a distinct hereditary contribution to adenocarc... | GAD | 19836008 | Detail |
| 0.015 | Carcinoma of lung | We then found that GRSs used as instrumental variables to predict longer telomer... | BeFree | 25516442 | Detail |
| 0.269 | Glioma | [We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x... | GAD | 19578367 | Detail |
| 0.015 | Carcinoma of lung | TERT genetic polymorphism rs2736100 was associated with lung cancer: a meta-anal... | BeFree | 24283584 | Detail |
| 0.127 | Adenocarcinoma of lung (disorder) | A genome-wide association study of lung cancer identifies a region of chromosome... | GWASCAT | 19836008 | Detail |
| 0.269 | Glioma | Genome-wide association studies have recently identified single-nucleotide polym... | BeFree | 20847058 | Detail |
| 0.269 | Glioma | Variants near TERT and TERC influencing telomere length are associated with high... | GWASCAT | 24908248 | Detail |
| 0.269 | Glioma | [Chromosome 7p11.2 (EGFR) variation influences glioma risk.] | GAD | 21531791 | Detail |
| 0.252 | Glioma | Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC... | BeFree | 20212223 | Detail |
| 0.001 | Lung Diseases, Interstitial | Associations between 2 polymorphisms in TERT (rs2736100) and MUC5B (rs35705950) ... | BeFree | 24434656 | Detail |
| 0.052 | Glioma | Case-control analyses stratified into 4 molecular classes (defined by 1p-19q sta... | BeFree | 23161787 | Detail |
| 0.155 | Malignant neoplasm of lung | Genome-wide association analysis identifies new lung cancer susceptibility loci ... | GWASCAT | 23143601 | Detail |
| <0.001 | Ischemic Cerebrovascular Accident | The aim of the present study was to determine whether six variants in the TERT g... | BeFree | 26201603 | Detail |
| 0.269 | Glioma | In analyses including glioma cases with a family history of brain tumours (n = 1... | BeFree | 23115063 | Detail |
| <0.001 | Chromosome 10, monosomy 10q | rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-gr... | BeFree | 23161787 | Detail |
| 0.269 | Glioma | We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x ... | BeFree | 19578367 | Detail |
| 0.269 | Glioma | Chromosome 7p11.2 (EGFR) variation influences glioma risk. | GWASCAT | 21531791 | Detail |
| 0.009 | breast carcinoma | The aim of our study was to investigate the association of allelic variants of t... | BeFree | 25296732 | Detail |
| 0.173 | Glioma | Genome-wide association studies have recently identified single-nucleotide polym... | BeFree | 20847058 | Detail |
| 0.138 | Malignant neoplasm of breast | The aim of our study was to investigate the association of allelic variants of t... | BeFree | 25296732 | Detail |
| 0.143 | Malignant neoplasm of lung | Longer telomere length in peripheral white blood cells is associated with risk o... | BeFree | 23555636 | Detail |
| 0.017 | adenocarcinoma | TERT rs2736100T/G polymorphism upregulates interleukin 6 expression in non-small... | BeFree | 24420154 | Detail |
| 0.243 | Adenocarcinoma of lung (disorder) | Gene variations rs2736100 and rs2853676 in TERT and rs401681 and rs31489 in CLPT... | BeFree | 25233467 | Detail |
| 0.003 | Coronary Arteriosclerosis | The aim of the present study was to determine whether six variants in the TERT g... | BeFree | 26201603 | Detail |
| 0.015 | Carcinoma of lung | TERT rs2736100 polymorphism contributes to lung cancer risk: a meta-analysis inc... | BeFree | 24535778 | Detail |
| 0.015 | Carcinoma of lung | After the 2nd stage validation (975 cases versus 1022 controls), the study clari... | BeFree | 23368278 | Detail |
| 0.127 | Adenocarcinoma of lung (disorder) | The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smokin... | GWASCAT | 20700438 | Detail |
| 0.155 | Malignant neoplasm of lung | We identified one novel variant at the level corrected for multiple comparisons ... | BeFree | 23370545 | Detail |
| 0.155 | Malignant neoplasm of lung | Association between TERT rs2736100 polymorphism and lung cancer susceptibility: ... | BeFree | 24390616 | Detail |
| <0.001 | arteriosclerosis | The GG genotype of telomerase reverse transcriptase at genetic locus rs2736100 i... | BeFree | 24465664 | Detail |
| 0.155 | Malignant neoplasm of lung | Increased lung cancer risk associated with the TERT rs2736100 polymorphism: an u... | BeFree | 24590268 | Detail |
| 0.012 | adenocarcinoma | TERT rs2736100T/G polymorphism upregulates interleukin 6 expression in non-small... | BeFree | 24420154 | Detail |
| <0.001 | colorectal cancer | The rs2736100 association demonstrates an influence of variation at 5p15.33 on C... | BeFree | 22878375 | Detail |
| 0.127 | Adenocarcinoma of lung (disorder) | A recent genome-wide association study of lung cancer among never-smoking female... | BeFree | 23555636 | Detail |
| 0.002 | Adenocarcinoma of lung (disorder) | These results suggest that the rs2736100T/G polymorphism modulates IL-6 expressi... | BeFree | 24420154 | Detail |
| 0.015 | Carcinoma of lung | TERT polymorphism (rs2736100) might be a genetic susceptibility factor for lung ... | BeFree | 25037574 | Detail |
| 0.015 | Carcinoma of lung | Association between TERT rs2736100 polymorphism and lung cancer susceptibility: ... | BeFree | 24390616 | Detail |
| 0.127 | Adenocarcinoma of lung (disorder) | In conclusion, this meta-analysis demonstrated that TERT rs2736100 polymorphism ... | BeFree | 24390616 | Detail |
| 0.155 | Malignant neoplasm of lung | DQA1*03 and the minor allele for a polymorphism, rs2736100, in TERT, another lun... | BeFree | 20061363 | Detail |
| 0.157 | Lung Neoplasms | [The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoki... | GAD | 20700438 | Detail |
| 0.157 | Lung Neoplasms | [Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japa... | GAD | 20871597 | Detail |
| <0.001 | childhood brain tumor | The results indicated that four SNPs, CDKN2BAS rs4977756 (p = 0.036), rs1412829 ... | BeFree | 26014354 | Detail |
| 0.127 | Adenocarcinoma of lung (disorder) | The combined analyses identified two susceptibility loci for lung adenocarcinoma... | BeFree | 20871597 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Meta-analysis of 10 studies (9,411 patients, 13,708 controls) showed that TERT polymorphisms (rs2736... | CIViC Evidence | Detail |
| NM_198253.3(TERT):c.1574-3777G>T AND Chronic osteomyelitis | ClinVar | Detail |
| NM_198253.3(TERT):c.1574-3777G>T AND Interstitial lung disease 2 | ClinVar | Detail |
| NM_198253.3(TERT):c.1574-3777G>T AND Chronic obstructive pulmonary disease | ClinVar | Detail |
| NM_198253.3(TERT):c.1574-3777G>T AND Combined pulmonary fibrosis-emphysema syndrome | ClinVar | Detail |
| NM_198253.3(TERT):c.1574-3777G>T AND multiple conditions | ClinVar | Detail |
| NM_198253.3(TERT):c.1574-3777G>T AND multiple conditions | ClinVar | Detail |
| Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610... | DisGeNET | Detail |
| Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610... | DisGeNET | Detail |
| Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610... | DisGeNET | Detail |
| Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf... | DisGeNET | Detail |
| Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf... | DisGeNET | Detail |
| Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf... | DisGeNET | Detail |
| Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610... | DisGeNET | Detail |
| Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610... | DisGeNET | Detail |
| Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf... | DisGeNET | Detail |
| Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610... | DisGeNET | Detail |
| Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf... | DisGeNET | Detail |
| To examine if variation at any of these loci influences the risk of lung cancer in never-smokers, we... | DisGeNET | Detail |
| The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
| The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
| The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
| The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
| The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
| The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
| The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
| The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
| The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
| The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
| The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
| The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
| The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
| The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
| The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
| The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
| None of the investigated TERT SNPs (rs2736122, rs2853676, rs2735940, rs2736098, rs2075786, rs2736100... | DisGeNET | Detail |
| In the meta-analysis, the reported risk allele for four SNPs were significantly associated with incr... | DisGeNET | Detail |
| In the meta-analysis, the reported risk allele for four SNPs were significantly associated with incr... | DisGeNET | Detail |
| In the meta-analysis, the reported risk allele for four SNPs were significantly associated with incr... | DisGeNET | Detail |
| In the meta-analysis, the reported risk allele for four SNPs were significantly associated with incr... | DisGeNET | Detail |
| In the meta-analysis, the reported risk allele for four SNPs were significantly associated with incr... | DisGeNET | Detail |
| In the meta-analysis, the reported risk allele for four SNPs were significantly associated with incr... | DisGeNET | Detail |
| In the meta-analysis, the reported risk allele for four SNPs were significantly associated with incr... | DisGeNET | Detail |
| In the meta-analysis, the reported risk allele for four SNPs were significantly associated with incr... | DisGeNET | Detail |
| Our findings suggested that TERT promoter rs2735940 polymorphism may affect the TERT activity, and r... | DisGeNET | Detail |
| Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (... | DisGeNET | Detail |
| Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (... | DisGeNET | Detail |
| Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (... | DisGeNET | Detail |
| Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (... | DisGeNET | Detail |
| Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (... | DisGeNET | Detail |
| Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (... | DisGeNET | Detail |
| TERT rs2736100T/G polymorphism upregulates interleukin 6 expression in non-small cell lung cancer es... | DisGeNET | Detail |
| We then found that GRSs used as instrumental variables to predict longer telomere length were associ... | DisGeNET | Detail |
| We conducted a new independent GWAS of glioma using 1,856 cases and 4,955 controls (from 14 cohort s... | DisGeNET | Detail |
| We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (r... | DisGeNET | Detail |
| Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8... | DisGeNET | Detail |
| In analyses including glioma cases with a family history of brain tumours (n = 104) and control subj... | DisGeNET | Detail |
| The rs2736100 association demonstrates an influence of variation at 5p15.33 on CRC risk and further ... | DisGeNET | Detail |
| We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (r... | DisGeNET | Detail |
| In analyses including glioma cases with a family history of brain tumours (n = 104) and control subj... | DisGeNET | Detail |
| The TERT variant rs2736100 is associated with colorectal cancer risk. | DisGeNET | Detail |
| After the 2nd stage validation (975 cases versus 1022 controls), the study clarified the association... | DisGeNET | Detail |
| [A genome-wide association study identifies an association of a common variant in TERT with suscepti... | DisGeNET | Detail |
| Longer telomere length in peripheral white blood cells is associated with risk of lung cancer and th... | DisGeNET | Detail |
| rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-grade disease, EGFR am... | DisGeNET | Detail |
| Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC26 rs4295627, CDKN2A... | DisGeNET | Detail |
| Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in fi... | DisGeNET | Detail |
| A recent genome-wide association study of lung cancer among never-smoking females in Asia demonstrat... | DisGeNET | Detail |
| Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC26 rs4295627, CDKN2A... | DisGeNET | Detail |
| [Combinations of newly confirmed Glioma-Associated loci link regions on chromosomes 1 and 9 to incre... | DisGeNET | Detail |
| [a lung cancer GWAS identified a distinct hereditary contribution to adenocarcinoma.] | DisGeNET | Detail |
| Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8... | DisGeNET | Detail |
| TERT genetic polymorphism rs2736100 was associated with lung cancer: a meta-analysis based on 14,492... | DisGeNET | Detail |
| Gene variations rs2736100 and rs2853676 in TERT and rs401681 and rs31489 in CLPTM1L had significant ... | DisGeNET | Detail |
| TERT rs2736100T/G polymorphism upregulates interleukin 6 expression in non-small cell lung cancer es... | DisGeNET | Detail |
| Associations between 2 polymorphisms in TERT (rs2736100) and MUC5B (rs35705950) and IPF or non-IPF s... | DisGeNET | Detail |
| rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-grade disease, EGFR am... | DisGeNET | Detail |
| rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-grade disease, EGFR am... | DisGeNET | Detail |
| Associations between 2 polymorphisms in TERT (rs2736100) and MUC5B (rs35705950) and IPF or non-IPF s... | DisGeNET | Detail |
| Combinations of newly confirmed Glioma-Associated loci link regions on chromosomes 1 and 9 to increa... | DisGeNET | Detail |
| The TERT variant rs2736100 is associated with colorectal cancer risk. | DisGeNET | Detail |
| Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in fi... | DisGeNET | Detail |
| Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC26 rs4295627, CDKN2A... | DisGeNET | Detail |
| Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8... | DisGeNET | Detail |
| Increased lung cancer risk associated with the TERT rs2736100 polymorphism: an updated meta-analysis... | DisGeNET | Detail |
| We found that rs2736100C allele in TERT gene was associated with a significantly increased risk of N... | DisGeNET | Detail |
| We identified one novel variant at the level corrected for multiple comparisons (rs2741354 in EPHX2 ... | DisGeNET | Detail |
| Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8... | DisGeNET | Detail |
| Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC26 rs4295627, CDKN2A... | DisGeNET | Detail |
| Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. | DisGeNET | Detail |
| Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in fi... | DisGeNET | Detail |
| Association between telomerase reverse transcriptase rs2736100 polymorphism and risk of glioma. | DisGeNET | Detail |
| We identified one novel variant at the level corrected for multiple comparisons (rs2741354 in EPHX2 ... | DisGeNET | Detail |
| We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (r... | DisGeNET | Detail |
| Longer telomere length in peripheral white blood cells is associated with risk of lung cancer and th... | DisGeNET | Detail |
| In analyses including glioma cases with a family history of brain tumours (n = 104) and control subj... | DisGeNET | Detail |
| The aim of the present study was to determine whether six variants in the TERT gene are associated w... | DisGeNET | Detail |
| In analyses including glioma cases with a family history of brain tumours (n = 104) and control subj... | DisGeNET | Detail |
| TERT rs2736100 polymorphism contributes to lung cancer risk: a meta-analysis including 49,869 cases ... | DisGeNET | Detail |
| The GG genotype of telomerase reverse transcriptase at genetic locus rs2736100 is associated with hu... | DisGeNET | Detail |
| rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-grade disease, EGFR am... | DisGeNET | Detail |
| DQA1*03 and the minor allele for a polymorphism, rs2736100, in TERT, another lung cancer susceptibil... | DisGeNET | Detail |
| Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in fi... | DisGeNET | Detail |
| Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8... | DisGeNET | Detail |
| We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (r... | DisGeNET | Detail |
| The aim of the present study was to determine whether six variants in the TERT gene are associated w... | DisGeNET | Detail |
| [A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and ... | DisGeNET | Detail |
| [Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.] | DisGeNET | Detail |
| Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8... | DisGeNET | Detail |
| In analyses including glioma cases with a family history of brain tumours (n = 104) and control subj... | DisGeNET | Detail |
| TERT polymorphism (rs2736100) might be a genetic susceptibility factor for lung cancer in non-smokin... | DisGeNET | Detail |
| A genome-wide association study identifies an association of a common variant in TERT with susceptib... | DisGeNET | Detail |
| Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. | DisGeNET | Detail |
| The role of telomerase reverse transcriptase (TERT) in gliomagenesis has been recently further stren... | DisGeNET | Detail |
| Longer telomere length in peripheral white blood cells is associated with risk of lung cancer and th... | DisGeNET | Detail |
| [, a lung cancer GWAS identified a distinct hereditary contribution to adenocarcinoma.] | DisGeNET | Detail |
| We then found that GRSs used as instrumental variables to predict longer telomere length were associ... | DisGeNET | Detail |
| [We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (... | DisGeNET | Detail |
| TERT genetic polymorphism rs2736100 was associated with lung cancer: a meta-analysis based on 14,492... | DisGeNET | Detail |
| A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated wit... | DisGeNET | Detail |
| Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in fi... | DisGeNET | Detail |
| Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk. | DisGeNET | Detail |
| [Chromosome 7p11.2 (EGFR) variation influences glioma risk.] | DisGeNET | Detail |
| Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC26 rs4295627, CDKN2A... | DisGeNET | Detail |
| Associations between 2 polymorphisms in TERT (rs2736100) and MUC5B (rs35705950) and IPF or non-IPF s... | DisGeNET | Detail |
| Case-control analyses stratified into 4 molecular classes (defined by 1p-19q status, IDH mutation, a... | DisGeNET | Detail |
| Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking wom... | DisGeNET | Detail |
| The aim of the present study was to determine whether six variants in the TERT gene are associated w... | DisGeNET | Detail |
| In analyses including glioma cases with a family history of brain tumours (n = 104) and control subj... | DisGeNET | Detail |
| rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-grade disease, EGFR am... | DisGeNET | Detail |
| We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (r... | DisGeNET | Detail |
| Chromosome 7p11.2 (EGFR) variation influences glioma risk. | DisGeNET | Detail |
| The aim of our study was to investigate the association of allelic variants of three functional poly... | DisGeNET | Detail |
| Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in fi... | DisGeNET | Detail |
| The aim of our study was to investigate the association of allelic variants of three functional poly... | DisGeNET | Detail |
| Longer telomere length in peripheral white blood cells is associated with risk of lung cancer and th... | DisGeNET | Detail |
| TERT rs2736100T/G polymorphism upregulates interleukin 6 expression in non-small cell lung cancer es... | DisGeNET | Detail |
| Gene variations rs2736100 and rs2853676 in TERT and rs401681 and rs31489 in CLPTM1L had significant ... | DisGeNET | Detail |
| The aim of the present study was to determine whether six variants in the TERT gene are associated w... | DisGeNET | Detail |
| TERT rs2736100 polymorphism contributes to lung cancer risk: a meta-analysis including 49,869 cases ... | DisGeNET | Detail |
| After the 2nd stage validation (975 cases versus 1022 controls), the study clarified the association... | DisGeNET | Detail |
| The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia. | DisGeNET | Detail |
| We identified one novel variant at the level corrected for multiple comparisons (rs2741354 in EPHX2 ... | DisGeNET | Detail |
| Association between TERT rs2736100 polymorphism and lung cancer susceptibility: evidence from 22 cas... | DisGeNET | Detail |
| The GG genotype of telomerase reverse transcriptase at genetic locus rs2736100 is associated with hu... | DisGeNET | Detail |
| Increased lung cancer risk associated with the TERT rs2736100 polymorphism: an updated meta-analysis... | DisGeNET | Detail |
| TERT rs2736100T/G polymorphism upregulates interleukin 6 expression in non-small cell lung cancer es... | DisGeNET | Detail |
| The rs2736100 association demonstrates an influence of variation at 5p15.33 on CRC risk and further ... | DisGeNET | Detail |
| A recent genome-wide association study of lung cancer among never-smoking females in Asia demonstrat... | DisGeNET | Detail |
| These results suggest that the rs2736100T/G polymorphism modulates IL-6 expression and may play a un... | DisGeNET | Detail |
| TERT polymorphism (rs2736100) might be a genetic susceptibility factor for lung cancer in non-smokin... | DisGeNET | Detail |
| Association between TERT rs2736100 polymorphism and lung cancer susceptibility: evidence from 22 cas... | DisGeNET | Detail |
| In conclusion, this meta-analysis demonstrated that TERT rs2736100 polymorphism is a risk factor ass... | DisGeNET | Detail |
| DQA1*03 and the minor allele for a polymorphism, rs2736100, in TERT, another lung cancer susceptibil... | DisGeNET | Detail |
| [The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia.] | DisGeNET | Detail |
| [Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean popu... | DisGeNET | Detail |
| The results indicated that four SNPs, CDKN2BAS rs4977756 (p = 0.036), rs1412829 (p = 0.037), rs21577... | DisGeNET | Detail |
| The combined analyses identified two susceptibility loci for lung adenocarcinoma: TERT (rs2736100, c... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2736100 dbSNP
- Genome
- hg19
- Position
- chr5:1,286,516-1,286,516
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs2736100
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6037
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10117
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- Variant (CIViC) (CIViC Variant)
- RS2736100
- Transcript 1 (CIViC Variant)
- ENST00000310581.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/421
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