dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs2853669
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr5:1295234 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- A>C / A>G / A>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.246095 (65139/264690, TOPMED)G=0.241738 (33822/139912, GnomAD)G=0.26641 (7623/28614, ALFA) (+ 15 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- TERT : 2KB Upstream Variant
- Publications
- 73 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20230706150541
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 28614 | A=0.73359 | G=0.26641 |
| European | Sub | 21250 | A=0.69506 | G=0.30494 |
| African | Sub | 5558 | A=0.8820 | G=0.1180 |
| African Others | Sub | 198 | A=0.955 | G=0.045 |
| African American | Sub | 5360 | A=0.8793 | G=0.1207 |
| Asian | Sub | 146 | A=0.596 | G=0.404 |
| East Asian | Sub | 120 | A=0.608 | G=0.392 |
| Other Asian | Sub | 26 | A=0.54 | G=0.46 |
| Latin American 1 | Sub | 146 | A=0.788 | G=0.212 |
| Latin American 2 | Sub | 610 | A=0.766 | G=0.234 |
| South Asian | Sub | 98 | A=0.51 | G=0.49 |
| Other | Sub | 806 | A=0.744 | G=0.256 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | A=0.753905 | G=0.246095 |
| gnomAD - Genomes | Global | Study-wide | 139912 | A=0.758262 | G=0.241738 |
| gnomAD - Genomes | European | Sub | 75722 | A=0.70492 | G=0.29508 |
| gnomAD - Genomes | African | Sub | 41968 | A=0.87402 | G=0.12598 |
| gnomAD - Genomes | American | Sub | 13636 | A=0.76423 | G=0.23577 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3318 | A=0.6414 | G=0.3586 |
| gnomAD - Genomes | East Asian | Sub | 3118 | A=0.6148 | G=0.3852 |
| gnomAD - Genomes | Other | Sub | 2150 | A=0.7279 | G=0.2721 |
| Allele Frequency Aggregator | Total | Global | 28614 | A=0.73359 | G=0.26641 |
| Allele Frequency Aggregator | European | Sub | 21250 | A=0.69506 | G=0.30494 |
| Allele Frequency Aggregator | African | Sub | 5558 | A=0.8820 | G=0.1180 |
| Allele Frequency Aggregator | Other | Sub | 806 | A=0.744 | G=0.256 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | A=0.766 | G=0.234 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | A=0.788 | G=0.212 |
| Allele Frequency Aggregator | Asian | Sub | 146 | A=0.596 | G=0.404 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | A=0.51 | G=0.49 |
| 14KJPN | JAPANESE | Study-wide | 28242 | A=0.74520 | G=0.25480 |
| 8.3KJPN | JAPANESE | Study-wide | 16756 | A=0.74678 | G=0.25322 |
| 1000Genomes_30x | Global | Study-wide | 6404 | A=0.7082 | G=0.2918 |
| 1000Genomes_30x | African | Sub | 1786 | A=0.9272 | G=0.0728 |
| 1000Genomes_30x | Europe | Sub | 1266 | A=0.6998 | G=0.3002 |
| 1000Genomes_30x | South Asian | Sub | 1202 | A=0.4359 | G=0.5641 |
| 1000Genomes_30x | East Asian | Sub | 1170 | A=0.6145 | G=0.3855 |
| 1000Genomes_30x | American | Sub | 980 | A=0.765 | G=0.235 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.7021 | G=0.2979 |
| 1000Genomes | African | Sub | 1322 | A=0.9236 | G=0.0764 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.6230 | G=0.3770 |
| 1000Genomes | Europe | Sub | 1006 | A=0.7117 | G=0.2883 |
| 1000Genomes | South Asian | Sub | 978 | A=0.433 | G=0.567 |
| 1000Genomes | American | Sub | 694 | A=0.761 | G=0.239 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.7603 | G=0.2397 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.6751 | G=0.3249 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.6777 | G=0.3223 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2874 | A=0.6743 | C=0.0000, G=0.3257 |
| Korean Genome Project | KOREAN | Study-wide | 1772 | A=0.6795 | G=0.3205 |
| Northern Sweden | ACPOP | Study-wide | 600 | A=0.733 | G=0.267 |
| SGDP_PRJ | Global | Study-wide | 284 | A=0.310 | G=0.690 |
| Qatari | Global | Study-wide | 216 | A=0.602 | G=0.398 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 212 | A=0.528 | G=0.472 |
| The Danish reference pan genome | Danish | Study-wide | 40 | A=0.65 | G=0.35 |
| Siberian | Global | Study-wide | 38 | A=0.39 | G=0.61 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 5 | NC_000005.10:g.1295234A>C |
| GRCh38.p14 chr 5 | NC_000005.10:g.1295234A>G |
| GRCh38.p14 chr 5 | NC_000005.10:g.1295234A>T |
| GRCh37.p13 chr 5 | NC_000005.9:g.1295349A>C |
| GRCh37.p13 chr 5 | NC_000005.9:g.1295349A>G |
| GRCh37.p13 chr 5 | NC_000005.9:g.1295349A>T |
| TERT RefSeqGene (LRG_343) | NG_009265.1:g.4814T>G |
| TERT RefSeqGene (LRG_343) | NG_009265.1:g.4814T>C |
| TERT RefSeqGene (LRG_343) | NG_009265.1:g.4814T>A |
| LOC110806263 genomic region | NG_055467.1:g.707A>C |
| LOC110806263 genomic region | NG_055467.1:g.707A>G |
| LOC110806263 genomic region | NG_055467.1:g.707A>T |
Gene: TERT, telomerase reverse transcriptase
(minus strand)
:
2KB Upstream Variant
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| TERT transcript variant 2 | NM_001193376.3:c. | N/A | Upstream Transcript Variant |
| TERT transcript variant 1 | NM_198253.3:c. | N/A | Upstream Transcript Variant |
| TERT transcript variant 3 | NR_149162.3:n. | N/A | Upstream Transcript Variant |
| TERT transcript variant 4 | NR_149163.3:n. | N/A | Upstream Transcript Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Allele: G (allele ID:
520856
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000648941.7 | Dyskeratosis congenita, autosomal dominant 2,Idiopathic Pulmonary Fibrosis | Benign |
| RCV001653969.3 | not provided | Benign |
| RCV001816613.3 | not specified | Benign |
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | A= | C | G | T |
|---|---|---|---|---|
| GRCh38.p14 chr 5 | NC_000005.10:g.1295234= | NC_000005.10:g.1295234A>C | NC_000005.10:g.1295234A>G | NC_000005.10:g.1295234A>T |
| GRCh37.p13 chr 5 | NC_000005.9:g.1295349= | NC_000005.9:g.1295349A>C | NC_000005.9:g.1295349A>G | NC_000005.9:g.1295349A>T |
| TERT RefSeqGene (LRG_343) | NG_009265.1:g.4814= | NG_009265.1:g.4814T>G | NG_009265.1:g.4814T>C | NG_009265.1:g.4814T>A |
| LOC110806263 genomic region | NG_055467.1:g.707= | NG_055467.1:g.707A>C | NG_055467.1:g.707A>G | NG_055467.1:g.707A>T |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
62 SubSNP,
18 Frequency,
3 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | TSC-CSHL | ss1343109 | Oct 08, 2002 (108) |
| 2 | SC_JCM | ss4040335 | Sep 28, 2001 (100) |
| 3 | BCM_SSAHASNP | ss10212500 | Jul 11, 2003 (116) |
| 4 | ABI | ss44657495 | Mar 13, 2006 (126) |
| 5 | SNP500CANCER | ss48297101 | Mar 13, 2006 (126) |
| 6 | EGP_SNPS | ss49784092 | Mar 13, 2006 (126) |
| 7 | BGI | ss105900037 | Feb 06, 2009 (130) |
| 8 | COMPLETE_GENOMICS | ss161945076 | Jul 04, 2010 (132) |
| 9 | 1000GENOMES | ss232792232 | Jul 14, 2010 (132) |
| 10 | BL | ss253148873 | May 09, 2011 (134) |
| 11 | SSMP | ss651990300 | Apr 25, 2013 (138) |
| 12 | EVA-GONL | ss981163884 | Aug 21, 2014 (142) |
| 13 | JMKIDD_LAB | ss1072325238 | Aug 21, 2014 (142) |
| 14 | 1000GENOMES | ss1313599942 | Aug 21, 2014 (142) |
| 15 | EVA_GENOME_DK | ss1580975924 | Apr 01, 2015 (144) |
| 16 | EVA_DECODE | ss1590679963 | Apr 01, 2015 (144) |
| 17 | EVA_UK10K_ALSPAC | ss1612108729 | Apr 01, 2015 (144) |
| 18 | EVA_UK10K_TWINSUK | ss1655102762 | Apr 01, 2015 (144) |
| 19 | WEILL_CORNELL_DGM | ss1924420004 | Feb 12, 2016 (147) |
| 20 | JJLAB | ss2022803427 | Sep 14, 2016 (149) |
| 21 | USC_VALOUEV | ss2150953407 | Dec 20, 2016 (150) |
| 22 | HUMAN_LONGEVITY | ss2270758478 | Dec 20, 2016 (150) |
| 23 | SYSTEMSBIOZJU | ss2625900226 | Nov 08, 2017 (151) |
| 24 | GRF | ss2706474619 | Nov 08, 2017 (151) |
| 25 | ILLUMINA | ss2711026300 | Nov 08, 2017 (151) |
| 26 | GNOMAD | ss2820319840 | Nov 08, 2017 (151) |
| 27 | SWEGEN | ss2996313964 | Nov 08, 2017 (151) |
| 28 | BIOINF_KMB_FNS_UNIBA | ss3025184464 | Nov 08, 2017 (151) |
| 29 | CSHL | ss3346200192 | Nov 08, 2017 (151) |
| 30 | ILLUMINA | ss3625864441 | Oct 12, 2018 (152) |
| 31 | EGCUT_WGS | ss3664202805 | Jul 13, 2019 (153) |
| 32 | EVA_DECODE | ss3713952222 | Jul 13, 2019 (153) |
| 33 | ACPOP | ss3732016622 | Jul 13, 2019 (153) |
| 34 | EVA | ss3762965747 | Jul 13, 2019 (153) |
| 35 | PACBIO | ss3784999180 | Jul 13, 2019 (153) |
| 36 | PACBIO | ss3790419594 | Jul 13, 2019 (153) |
| 37 | PACBIO | ss3795296072 | Jul 13, 2019 (153) |
| 38 | KHV_HUMAN_GENOMES | ss3806135124 | Jul 13, 2019 (153) |
| 39 | EVA | ss3829051954 | Apr 26, 2020 (154) |
| 40 | SGDP_PRJ | ss3861041557 | Apr 26, 2020 (154) |
| 41 | KRGDB | ss3907478606 | Apr 26, 2020 (154) |
| 42 | KOGIC | ss3955955314 | Apr 26, 2020 (154) |
| 43 | TOPMED | ss4647126194 | Apr 26, 2021 (155) |
| 44 | TOMMO_GENOMICS | ss5170044102 | Apr 26, 2021 (155) |
| 45 | 1000G_HIGH_COVERAGE | ss5262607714 | Oct 13, 2022 (156) |
| 46 | EVA | ss5355157153 | Oct 13, 2022 (156) |
| 47 | HUGCELL_USP | ss5460980541 | Oct 13, 2022 (156) |
| 48 | 1000G_HIGH_COVERAGE | ss5545525336 | Oct 13, 2022 (156) |
| 49 | EVA | ss5623931398 | Oct 13, 2022 (156) |
| 50 | SANFORD_IMAGENETICS | ss5624579660 | Oct 13, 2022 (156) |
| 51 | SANFORD_IMAGENETICS | ss5637025112 | Oct 13, 2022 (156) |
| 52 | TOMMO_GENOMICS | ss5705623860 | Oct 13, 2022 (156) |
| 53 | EVA | ss5800119948 | Oct 13, 2022 (156) |
| 54 | YY_MCH | ss5805951170 | Oct 13, 2022 (156) |
| 55 | EVA | ss5834408814 | Oct 13, 2022 (156) |
| 56 | EVA | ss5848038531 | Oct 13, 2022 (156) |
| 57 | EVA | ss5854645000 | Oct 13, 2022 (156) |
| 58 | EVA | ss5892681480 | Oct 13, 2022 (156) |
| 59 | EVA | ss5935747710 | Oct 13, 2022 (156) |
| 60 | EVA | ss5965432556 | Oct 13, 2022 (156) |
| 61 | EVA | ss5979728598 | Oct 13, 2022 (156) |
| 62 | EVA | ss5980274500 | Oct 13, 2022 (156) |
| 63 | 1000Genomes | NC_000005.9 - 1295349 | Oct 12, 2018 (152) |
| 64 | 1000Genomes_30x | NC_000005.10 - 1295234 | Oct 13, 2022 (156) |
| 65 | The Avon Longitudinal Study of Parents and Children | NC_000005.9 - 1295349 | Oct 12, 2018 (152) |
| 66 | Genetic variation in the Estonian population | NC_000005.9 - 1295349 | Oct 12, 2018 (152) |
| 67 | The Danish reference pan genome | NC_000005.9 - 1295349 | Apr 26, 2020 (154) |
| 68 | gnomAD - Genomes | NC_000005.10 - 1295234 | Apr 26, 2021 (155) |
| 69 | KOREAN population from KRGDB | NC_000005.9 - 1295349 | Apr 26, 2020 (154) |
| 70 | Korean Genome Project | NC_000005.10 - 1295234 | Apr 26, 2020 (154) |
| 71 | Northern Sweden | NC_000005.9 - 1295349 | Jul 13, 2019 (153) |
| 72 | Qatari | NC_000005.9 - 1295349 | Apr 26, 2020 (154) |
| 73 | SGDP_PRJ | NC_000005.9 - 1295349 | Apr 26, 2020 (154) |
| 74 | Siberian | NC_000005.9 - 1295349 | Apr 26, 2020 (154) |
| 75 | 8.3KJPN | NC_000005.9 - 1295349 | Apr 26, 2021 (155) |
| 76 | 14KJPN | NC_000005.10 - 1295234 | Oct 13, 2022 (156) |
| 77 | TopMed | NC_000005.10 - 1295234 | Apr 26, 2021 (155) |
| 78 | UK 10K study - Twins | NC_000005.9 - 1295349 | Oct 12, 2018 (152) |
| 79 | A Vietnamese Genetic Variation Database | NC_000005.9 - 1295349 | Jul 13, 2019 (153) |
| 80 | ALFA | NC_000005.10 - 1295234 | Apr 26, 2021 (155) |
| 81 | ClinVar | RCV000648941.7 | Oct 13, 2022 (156) |
| 82 | ClinVar | RCV001653969.3 | Oct 13, 2022 (156) |
| 83 | ClinVar | RCV001816613.3 | Oct 13, 2022 (156) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 14656000, ss3907478606 | NC_000005.9:1295348:A:C | NC_000005.10:1295233:A:C | (self) |
| ss161945076, ss253148873, ss1590679963 | NC_000005.8:1348348:A:G | NC_000005.10:1295233:A:G | (self) |
| 25144237, 13984169, 9941053, 7140863, 14656000, 5301487, 6461934, 13058537, 3469761, 28013409, 13984169, 3100423, ss232792232, ss651990300, ss981163884, ss1072325238, ss1313599942, ss1580975924, ss1612108729, ss1655102762, ss1924420004, ss2022803427, ss2150953407, ss2625900226, ss2706474619, ss2711026300, ss2820319840, ss2996313964, ss3346200192, ss3625864441, ss3664202805, ss3732016622, ss3762965747, ss3784999180, ss3790419594, ss3795296072, ss3829051954, ss3861041557, ss3907478606, ss5170044102, ss5355157153, ss5623931398, ss5624579660, ss5637025112, ss5800119948, ss5834408814, ss5848038531, ss5935747710, ss5965432556, ss5979728598, ss5980274500 | NC_000005.9:1295348:A:G | NC_000005.10:1295233:A:G | (self) |
| RCV000648941.7, RCV001653969.3, RCV001816613.3, 33051271, 177827874, 12333315, 39460964, 484503751, 5062387086, ss2270758478, ss3025184464, ss3713952222, ss3806135124, ss3955955314, ss4647126194, ss5262607714, ss5460980541, ss5545525336, ss5705623860, ss5805951170, ss5854645000, ss5892681480 | NC_000005.10:1295233:A:G | NC_000005.10:1295233:A:G | (self) |
| ss1343109, ss4040335, ss44657495, ss48297101, ss49784092, ss105900037 | NT_006576.16:1285348:A:G | NC_000005.10:1295233:A:G | (self) |
| ss10212500 | NT_023089.13:1278086:A:G | NC_000005.10:1295233:A:G | (self) |
| ss5935747710 | NC_000005.9:1295348:A:T | NC_000005.10:1295233:A:T |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
73
citations for rs2853669
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 19285750 | Genetic variation in telomere maintenance genes, telomere length, and lung cancer susceptibility. | Hosgood HD 3rd et al. | 2009 | Lung cancer (Amsterdam, Netherlands) |
| 19380022 | A functional promoter polymorphism in the TERT gene does not affect inherited susceptibility to breast cancer. | Varadi V et al. | 2009 | Cancer genetics and cytogenetics |
| 20056641 | Multiple genetic variants in telomere pathway genes and breast cancer risk. | Shen J et al. | 2010 | Cancer epidemiology, biomarkers & prevention |
| 21514219 | Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. | Zhang B et al. | 2011 | The Lancet. Oncology |
| 21949822 | Functional polymorphisms in the TERT promoter are associated with risk of serous epithelial ovarian and breast cancers. | Beesley J et al. | 2011 | PloS one |
| 21994403 | Telomere length and TERT functional polymorphisms are not associated with risk of squamous cell carcinoma of the head and neck. | Liu Z et al. | 2011 | Cancer epidemiology, biomarkers & prevention |
| 22134622 | Lack of association between common single nucleotide polymorphisms in the TERT-CLPTM1L locus and breast cancer in women of African ancestry. | Zheng Y et al. | 2012 | Breast cancer research and treatment |
| 22136229 | Genetic variation in TERT and TERC and human leukocyte telomere length and longevity: a cross-sectional and longitudinal analysis. | Soerensen M et al. | 2012 | Aging cell |
| 23082138 | Functional haplotypes of the hTERT gene, leukocyte telomere length shortening, and the risk of peripheral arterial disease. | Zhang W et al. | 2012 | PloS one |
| 23535824 | Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression. | Kote-Jarai Z et al. | 2013 | Human molecular genetics |
| 23908149 | Genetic variations in TERT-CLPTM1L locus are associated with risk of lung cancer in Chinese population. | Zhong R et al. | 2013 | Molecular carcinogenesis |
| 24101484 | TERT promoter mutations in bladder cancer affect patient survival and disease recurrence through modification by a common polymorphism. | Rachakonda PS et al. | 2013 | Proceedings of the National Academy of Sciences of the United States of America |
| 24171766 | Common low-penetrance risk variants associated with breast cancer in Polish women. | Ledwoń JK et al. | 2013 | BMC cancer |
| 25140036 | TERT promoter mutations: a novel independent prognostic factor in primary glioblastomas. | Simon M et al. | 2015 | Neuro-oncology |
| 25296732 | TERT polymorphisms rs2853669 and rs7726159 influence on prostate cancer risk in Russian population. | Shadrina AS et al. | 2015 | Tumour biology |
| 25314060 | TERT promoter mutations in gliomas, genetic associations and clinico-pathological correlations. | Labussière M et al. | 2014 | British journal of cancer |
| 25331263 | TERT promoter mutations in clear cell renal cell carcinoma. | Hosen I et al. | 2015 | International journal of cancer |
| 25448848 | Telomerase in differentiated thyroid cancer: promoter mutations, expression and localization. | Muzza M et al. | 2015 | Molecular and cellular endocrinology |
| 25487306 | Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk. | Carvajal-Carmona LG et al. | 2015 | Human genetics |
| 25681309 | Prognostic quality of activating TERT promoter mutations in glioblastoma: interaction with the rs2853669 polymorphism and patient age at diagnosis. | Spiegl-Kreinecker S et al. | 2015 | Neuro-oncology |
| 25809917 | Mutations in TERT promoter and FGFR3 and telomere length in bladder cancer. | Hosen I et al. | 2015 | International journal of cancer |
| 26143636 | TERT promoter mutations and polymorphisms as prognostic factors in primary glioblastoma. | Mosrati MA et al. | 2015 | Oncotarget |
| 26298771 | Association between TERT promoter polymorphisms and acute myeloid leukemia risk and prognosis. | Mosrati MA et al. | 2015 | Oncotarget |
| 26354067 | Replication of the results of genome-wide and candidate gene association studies on telomere length in a Korean population. | Do SK et al. | 2015 | The Korean journal of internal medicine |
| 26391479 | TERT promoter mutations in soft tissue sarcomas. | Campanella NC et al. | 2016 | The International journal of biological markers |
| 26425038 | TERT Polymorphism rs2853669 Influences on Lung Cancer Risk in the Korean Population. | Yoo SS et al. | 2015 | Journal of Korean medical science |
| 26501986 | Telomerase Reverse Transcriptase (TERT) Gene Variations and Susceptibility of Colorectal Cancer. | Jannuzzi AT et al. | 2015 | Genetic testing and molecular biomarkers |
| 26526580 | Hotspot TERT promoter mutations are rare events in testicular germ cell tumors. | Cárcano FM et al. | 2016 | Tumour biology |
| 26575952 | The TERT promoter SNP rs2853669 decreases E2F1 transcription factor binding and increases mortality and recurrence risks in liver cancer. | Ko E et al. | 2016 | Oncotarget |
| 26608520 | TERT promoter mutations and rs2853669 polymorphism: prognostic impact and interactions with common alterations in glioblastomas. | Nencha U et al. | 2016 | Journal of neuro-oncology |
| 26621837 | Common variations in TERT-CLPTM1L locus are reproducibly associated with the risk of nasopharyngeal carcinoma in Chinese populations. | Zhang Y et al. | 2016 | Oncotarget |
| 26875008 | TERT promoter mutations in melanoma survival. | Nagore E et al. | 2016 | International journal of cancer |
| 26914704 | The prognostic impact of TERT promoter mutations in glioblastomas is modified by the rs2853669 single nucleotide polymorphism. | Batista R et al. | 2016 | International journal of cancer |
| 27016301 | Polymorphisms in human telomerase reverse transcriptase (hTERT) gene and susceptibility to gastric cancer in a Turkish population: Hospital-based case-control study. | Bayram S et al. | 2016 | Gene |
| 27336831 | Association Between Human Telomerase Reverse Transcriptase Gene Variations and Risk of Developing Breast Cancer. | Oztas E et al. | 2016 | Genetic testing and molecular biomarkers |
| 27367732 | Human Specific Regulation of the Telomerase Reverse Transcriptase Gene. | Zhang F et al. | 2016 | Genes |
| 27982019 | The associations of TERT-CLPTM1L variants and TERT mRNA expression with the prognosis of early stage non-small cell lung cancer. | Chen Z et al. | 2017 | Cancer gene therapy |
| 27990595 | Distribution of TERT promoter mutations in primary and metastatic melanomas in Austrian patients. | Ofner R et al. | 2017 | Journal of cancer research and clinical oncology |
| 28146043 | Characterization of melanoma susceptibility genes in high-risk patients from Central Italy. | Pellegrini C et al. | 2017 | Melanoma research |
| 28371821 | Telomerase activation in posterior fossa group A ependymomas is associated with dismal prognosis and chromosome 1q gain. | Gojo J et al. | 2017 | Neuro-oncology |
| 28423629 | Polymorphisms in human telomerase reverse transcriptase (hTERT) gene, gene- gene and gene-smoking interaction with susceptibility to gastric cancer in Chinese Han population. | Zhang J et al. | 2017 | Oncotarget |
| 28881610 | Association between rs2853669 in TERT gene and the risk and prognosis of human cancer: a systematic review and meta-analysis. | Shen N et al. | 2017 | Oncotarget |
| 28894890 | New prognostic factor telomerase reverse transcriptase promotor mutation presents without MR imaging biomarkers in primary glioblastoma. | Ersoy TF et al. | 2017 | Neuroradiology |
| 28978027 | Functional dissection of breast cancer risk-associated TERT promoter variants. | Helbig S et al. | 2017 | Oncotarget |
| 29506639 | Genetic polymorphisms in human telomerase reverse transcriptase (hTERT) gene polymorphisms do not associated with breast cancer in patients in a turkish population: hospital-based case-control study. | Aydin M et al. | 2018 | Cellular and molecular biology (Noisy-le-Grand, France) |
| 29534075 | Association between TERT rs2853669 polymorphism and cancer risk: A meta-analysis of 9,157 cases and 11,073 controls. | Liu Z et al. | 2018 | PloS one |
| 29938393 | Possible association of the TERT promoter polymorphisms rs2735940, rs7712562 and rs2853669 with diabetes mellitus in obese elderly Polish population: results from the national PolSenior study. | Gutmajster E et al. | 2018 | Journal of applied genetics |
| 30535641 | Correlation of human telomerase reverse transcriptase single nucleotide polymorphisms with in vitro fertilisation outcomes. | Dai K et al. | 2019 | Journal of assisted reproduction and genetics |
| 31270413 | ||||
| 31425705 | Classifying Melanoma by TERT Promoter Mutational Status. | Shaughnessy M et al. | 2020 | The Journal of investigative dermatology |
| 31446212 | Discriminating association of a common telomerase reverse transcriptase promoter polymorphism with telomere parameters in non-small cell lung cancer with or without epidermal growth factor receptor mutation. | Yuan P et al. | 2019 | European journal of cancer (Oxford, England |
| 31629678 | Re-evaluating genetic variants identified in candidate gene studies of breast cancer risk using data from nearly 280,000 women of Asian and European ancestry. | Yang Y et al. | 2019 | EBioMedicine |
| 31943527 | Clinicopathological significance of the single nucleotide polymorphism, rs2853669 within the TERT promoter in papillary thyroid carcinoma. | Hirokawa T et al. | 2020 | Pathology international |
| 31943533 | Effect of single-nucleotide polymorphism in TERT promoter on follicular thyroid tumor development. | Hirokawa T et al. | 2020 | Pathology international |
| 32023888 | TERT Promoter Mutation as a Potential Predictive Biomarker in BCG-Treated Bladder Cancer Patients. | Batista R et al. | 2020 | International journal of molecular sciences |
| 32257207 | Association between functional TERT promoter polymorphism rs2853669 and cervical cancer risk in South Indian women. | Vinothkumar V et al. | 2020 | Molecular and clinical oncology |
| 32257438 | Association of TERT, OGG1, and CHRNA5 Polymorphisms and the Predisposition to Lung Cancer in Eastern Algeria. | Mimouni A et al. | 2020 | Pulmonary medicine |
| 32694935 | Association between TERT gene polymorphisms and acute myeloid leukemia susceptibility in a Chinese population: a case-control study. | Tong Y et al. | 2020 | Cancer cell international |
| 33227798 | Regulatory Single Nucleotide Polymorphism Increases TERT Promoter Activity in Thyroid Carcinoma Cells. | Hirokawa T et al. | 2020 | Pathobiology |
| 33389530 | Association study of leukocyte telomere length and genetic polymorphism within hTERT promoter with type 2 diabetes in Bangladeshi population. | Goswami A et al. | 2021 | Molecular biology reports |
| 33547950 | Human TERT promoter mutations as a prognostic biomarker in glioma. | Powter B et al. | 2021 | Journal of cancer research and clinical oncology |
| 33718071 | Association of TERT gene polymorphisms with clinical benign prostatic hyperplasia in a Chinese Han population of the Northwest region. | Fan G et al. | 2021 | Translational andrology and urology |
| 33743166 | Human TERT promoter polymorphism rs2853669 is associated with cancers: an updated meta-analysis. | Aziz MA et al. | 2021 | Human cell |
| 33846459 | Sustained high expression of multiple APOBEC3 cytidine deaminases in systemic lupus erythematosus. | Perez-Bercoff D et al. | 2021 | Scientific reports |
| 34540891 | Umbrella Review on Associations Between Single Nucleotide Polymorphisms and Lung Cancer Risk. | Li X et al. | 2021 | Frontiers in molecular biosciences |
| 34857839 | TERT genetic variability and telomere length as factors affecting survival and risk in acute myeloid leukaemia. | Dratwa M et al. | 2021 | Scientific reports |
| 34858826 | Large Multicohort Study Reveals a Prostate Cancer Susceptibility Allele at 5p15 Regulating TERT via Androgen Signaling-Orchestrated Chromatin Binding of E2F1 and MYC. | Dong X et al. | 2021 | Frontiers in oncology |
| 34858860 | TERT Promoter Mutations and rs2853669 Polymorphism: Useful Markers for Clinical Outcome Stratification of Patients With Oral Cavity Squamous Cell Carcinoma. | Giunco S et al. | 2021 | Frontiers in oncology |
| 35154531 | TERT rs2853669 as a predictor for overall survival in patients with acute myeloid leukaemia. | Tripon F et al. | 2022 | Archives of medical science |
| 35159976 | Assessment of Telomerase Reverse Transcriptase Single Nucleotide Polymorphism in Sleep Bruxism. | Macek P et al. | 2022 | Journal of clinical medicine |
| 35469904 | Associations between TERT Promoter Mutations and Survival in Superficial Spreading and Nodular Melanomas in a Large Prospective Patient Cohort. | Chang GA et al. | 2022 | The Journal of investigative dermatology |
| 35704667 | Evaluation of possible role of the hTERT gene rs2853669 polymorphism in the development of colorectal cancer as a genetic risk factor. | Yalınbaş Kaya B et al. | 2022 | Nucleosides, nucleotides & nucleic acids |
| 35962322 | CTNNB1 mutations, TERT polymorphism and CD8+ cell densities in resected hepatocellular carcinoma are associated with longer time to recurrence. | Ambrozkiewicz F et al. | 2022 | BMC cancer |
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.