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.
rs2736100
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr5:1286401 (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
- C>A
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.493547 (134230/271970, ALFA)C=0.471707 (124856/264690, TOPMED)C=0.477917 (66852/139882, GnomAD) (+ 21 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- TERT : Intron Variant
- Publications
- 246 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: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 277100 | C=0.506157 | A=0.493843 | 0.259531 | 0.247218 | 0.493252 | 14 |
| European | Sub | 240198 | C=0.509655 | A=0.490345 | 0.262067 | 0.242758 | 0.495175 | 6 |
| African | Sub | 12032 | C=0.46476 | A=0.53524 | 0.216423 | 0.286902 | 0.496676 | 0 |
| African Others | Sub | 416 | C=0.483 | A=0.517 | 0.240385 | 0.274038 | 0.485577 | 0 |
| African American | Sub | 11616 | C=0.46410 | A=0.53590 | 0.215565 | 0.287362 | 0.497073 | 0 |
| Asian | Sub | 828 | C=0.421 | A=0.579 | 0.181159 | 0.338164 | 0.480676 | 0 |
| East Asian | Sub | 650 | C=0.405 | A=0.595 | 0.166154 | 0.356923 | 0.476923 | 0 |
| Other Asian | Sub | 178 | C=0.483 | A=0.517 | 0.235955 | 0.269663 | 0.494382 | 0 |
| Latin American 1 | Sub | 930 | C=0.422 | A=0.578 | 0.180645 | 0.337634 | 0.48172 | 0 |
| Latin American 2 | Sub | 4964 | C=0.3817 | A=0.6183 | 0.149073 | 0.385576 | 0.465351 | 0 |
| South Asian | Sub | 5056 | C=0.6064 | A=0.3936 | 0.377769 | 0.164953 | 0.457278 | 3 |
| Other | Sub | 13092 | C=0.49985 | A=0.50015 | 0.259395 | 0.259701 | 0.480904 | 6 |
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 |
|---|---|---|---|---|---|
| Allele Frequency Aggregator | Total | Global | 271970 | C=0.506453 | A=0.493547 |
| Allele Frequency Aggregator | European | Sub | 237028 | C=0.509750 | A=0.490250 |
| Allele Frequency Aggregator | Other | Sub | 12274 | C=0.50024 | A=0.49976 |
| Allele Frequency Aggregator | African | Sub | 10890 | C=0.46584 | A=0.53416 |
| Allele Frequency Aggregator | South Asian | Sub | 5056 | C=0.6064 | A=0.3936 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 4964 | C=0.3817 | A=0.6183 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 930 | C=0.422 | A=0.578 |
| Allele Frequency Aggregator | Asian | Sub | 828 | C=0.421 | A=0.579 |
| TopMed | Global | Study-wide | 264690 | C=0.471707 | A=0.528293 |
| gnomAD - Genomes | Global | Study-wide | 139882 | C=0.477917 | A=0.522083 |
| gnomAD - Genomes | European | Sub | 75750 | C=0.49966 | A=0.50034 |
| gnomAD - Genomes | African | Sub | 41902 | C=0.46174 | A=0.53826 |
| gnomAD - Genomes | American | Sub | 13636 | C=0.40136 | A=0.59864 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | C=0.5560 | A=0.4440 |
| gnomAD - Genomes | East Asian | Sub | 3126 | C=0.4127 | A=0.5873 |
| gnomAD - Genomes | Other | Sub | 2144 | C=0.4869 | A=0.5131 |
| The PAGE Study | Global | Study-wide | 78688 | C=0.45039 | A=0.54961 |
| The PAGE Study | AfricanAmerican | Sub | 32510 | C=0.46324 | A=0.53676 |
| The PAGE Study | Mexican | Sub | 10810 | C=0.37650 | A=0.62350 |
| The PAGE Study | Asian | Sub | 8312 | C=0.3982 | A=0.6018 |
| The PAGE Study | PuertoRican | Sub | 7916 | C=0.4773 | A=0.5227 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | C=0.5801 | A=0.4199 |
| The PAGE Study | Cuban | Sub | 4230 | C=0.5031 | A=0.4969 |
| The PAGE Study | Dominican | Sub | 3828 | C=0.4598 | A=0.5402 |
| The PAGE Study | CentralAmerican | Sub | 2450 | C=0.3751 | A=0.6249 |
| The PAGE Study | SouthAmerican | Sub | 1982 | C=0.3658 | A=0.6342 |
| The PAGE Study | NativeAmerican | Sub | 1260 | C=0.4429 | A=0.5571 |
| The PAGE Study | SouthAsian | Sub | 856 | C=0.586 | A=0.414 |
| 14KJPN | JAPANESE | Study-wide | 28256 | C=0.39503 | A=0.60497 |
| 8.3KJPN | JAPANESE | Study-wide | 16758 | C=0.39629 | A=0.60371 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.4849 | A=0.5151 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.4658 | A=0.5342 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.5055 | A=0.4945 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.6065 | A=0.3935 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.4197 | A=0.5803 |
| 1000Genomes_30x | American | Sub | 980 | C=0.421 | A=0.579 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.4846 | A=0.5154 |
| 1000Genomes | African | Sub | 1322 | C=0.4675 | A=0.5325 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.4147 | A=0.5853 |
| 1000Genomes | Europe | Sub | 1006 | C=0.4990 | A=0.5010 |
| 1000Genomes | South Asian | Sub | 978 | C=0.605 | A=0.395 |
| 1000Genomes | American | Sub | 694 | C=0.428 | A=0.572 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.4547 | A=0.5453 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.5117 | A=0.4883 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.5189 | A=0.4811 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | C=0.3816 | A=0.6184 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2084 | C=0.5230 | A=0.4770 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | C=0.451 | A=0.549 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | C=0.570 | A=0.430 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | C=0.660 | A=0.340 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | C=0.553 | A=0.447 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | C=0.525 | A=0.475 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | C=0.185 | A=0.815 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | C=0.93 | A=0.07 |
| HapMap | Global | Study-wide | 1704 | C=0.4906 | A=0.5094 |
| HapMap | African | Sub | 684 | C=0.477 | A=0.523 |
| HapMap | American | Sub | 596 | C=0.534 | A=0.466 |
| HapMap | Asian | Sub | 248 | C=0.395 | A=0.605 |
| HapMap | Europe | Sub | 176 | C=0.534 | A=0.466 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.521 | A=0.479 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | C=0.444 | A=0.556 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | C=0.444 | A=0.556 |
| Chileans | Chilean | Study-wide | 626 | C=0.369 | A=0.631 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.452 | A=0.548 |
| SGDP_PRJ | Global | Study-wide | 362 | C=0.298 | A=0.702 |
| Qatari | Global | Study-wide | 216 | C=0.644 | A=0.356 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 212 | C=0.467 | A=0.533 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 90 | C=0.33 | A=0.67 |
| The Danish reference pan genome | Danish | Study-wide | 40 | C=0.57 | A=0.42 |
| Siberian | Global | Study-wide | 40 | C=0.38 | A=0.62 |
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.1286401C>A |
| GRCh37.p13 chr 5 | NC_000005.9:g.1286516C>A |
| TERT RefSeqGene (LRG_343) | NG_009265.1:g.13647G>T |
| LOC110806264 genomic region | NG_055468.1:g.28C>A |
Gene: TERT, telomerase reverse transcriptase
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| TERT transcript variant 2 |
NM_001193376.3:c.1574-377… NM_001193376.3:c.1574-3777G>T |
N/A | Intron Variant |
| TERT transcript variant 1 | NM_198253.3:c.1574-3777G>T | N/A | Intron Variant |
| TERT transcript variant 3 | NR_149162.3:n. | N/A | Intron Variant |
| TERT transcript variant 4 | NR_149163.3:n. | N/A | Intron 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: A (allele ID:
362289
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000497563.2 | Chronic osteomyelitis | Association |
| RCV001523672.4 | Dyskeratosis congenita, autosomal dominant 2,Idiopathic Pulmonary Fibrosis | Benign |
| RCV001788211.1 | Idiopathic Pulmonary Fibrosis | Association |
| RCV001788212.1 | Chronic obstructive pulmonary disease | Uncertain-Significance |
| RCV001788213.1 | Combined pulmonary fibrosis-emphysema syndrome | Association |
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 | C= | A |
|---|---|---|
| GRCh38.p14 chr 5 | NC_000005.10:g.1286401= | NC_000005.10:g.1286401C>A |
| GRCh37.p13 chr 5 | NC_000005.9:g.1286516= | NC_000005.9:g.1286516C>A |
| TERT RefSeqGene (LRG_343) | NG_009265.1:g.13647= | NG_009265.1:g.13647G>T |
| LOC110806264 genomic region | NG_055468.1:g.28= | NG_055468.1:g.28C>A |
| TERT transcript variant 2 | NM_001193376.1:c.1574-3777= | NM_001193376.1:c.1574-3777G>T |
| TERT transcript variant 2 | NM_001193376.3:c.1574-3777= | NM_001193376.3:c.1574-3777G>T |
| TERT transcript variant 1 | NM_198253.2:c.1574-3777= | NM_198253.2:c.1574-3777G>T |
| TERT transcript variant 1 | NM_198253.3:c.1574-3777= | NM_198253.3:c.1574-3777G>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#.
149 SubSNP,
24 Frequency,
5 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | SC_JCM | ss3862475 | Sep 28, 2001 (100) |
| 2 | SSAHASNP | ss22256843 | Apr 05, 2004 (121) |
| 3 | ABI | ss44632215 | Mar 13, 2006 (126) |
| 4 | EGP_SNPS | ss49784115 | Mar 13, 2006 (126) |
| 5 | ILLUMINA | ss66679267 | Nov 30, 2006 (127) |
| 6 | ILLUMINA | ss67270819 | Nov 30, 2006 (127) |
| 7 | ILLUMINA | ss67671414 | Nov 30, 2006 (127) |
| 8 | PERLEGEN | ss68923805 | May 17, 2007 (127) |
| 9 | ILLUMINA | ss70749274 | May 25, 2008 (130) |
| 10 | ILLUMINA | ss71321429 | May 17, 2007 (127) |
| 11 | ILLUMINA | ss75568511 | Dec 07, 2007 (129) |
| 12 | AFFY | ss76547446 | Dec 07, 2007 (129) |
| 13 | HGSV | ss78706660 | Dec 07, 2007 (129) |
| 14 | ILLUMINA | ss79145397 | Dec 15, 2007 (130) |
| 15 | KRIBB_YJKIM | ss80734069 | Dec 15, 2007 (130) |
| 16 | KRIBB_YJKIM | ss84074980 | Dec 15, 2007 (130) |
| 17 | HGSV | ss86082464 | Dec 15, 2007 (130) |
| 18 | HUMANGENOME_JCVI | ss98589293 | Feb 05, 2009 (130) |
| 19 | BGI | ss104160048 | Dec 01, 2009 (131) |
| 20 | 1000GENOMES | ss108733073 | Jan 23, 2009 (130) |
| 21 | 1000GENOMES | ss111293136 | Jan 25, 2009 (130) |
| 22 | ILLUMINA-UK | ss116428639 | Feb 14, 2009 (130) |
| 23 | ILLUMINA | ss122096122 | Dec 01, 2009 (131) |
| 24 | ENSEMBL | ss143869993 | Dec 01, 2009 (131) |
| 25 | ILLUMINA | ss154231468 | Dec 01, 2009 (131) |
| 26 | GMI | ss154911351 | Dec 01, 2009 (131) |
| 27 | ILLUMINA | ss159407968 | Dec 01, 2009 (131) |
| 28 | ILLUMINA | ss160574818 | Dec 01, 2009 (131) |
| 29 | COMPLETE_GENOMICS | ss164027102 | Jul 04, 2010 (132) |
| 30 | ILLUMINA | ss171362387 | Jul 04, 2010 (132) |
| 31 | ILLUMINA | ss173448224 | Jul 04, 2010 (132) |
| 32 | BUSHMAN | ss199766850 | Jul 04, 2010 (132) |
| 33 | BCM-HGSC-SUB | ss207061662 | Jul 04, 2010 (132) |
| 34 | ILLUMINA | ss209088633 | Jul 04, 2010 (132) |
| 35 | 1000GENOMES | ss221466746 | Jul 14, 2010 (132) |
| 36 | 1000GENOMES | ss232792216 | Jul 14, 2010 (132) |
| 37 | 1000GENOMES | ss239996964 | Jul 15, 2010 (132) |
| 38 | ILLUMINA | ss244291719 | Jul 04, 2010 (132) |
| 39 | BL | ss253148781 | May 09, 2011 (134) |
| 40 | GMI | ss278133460 | May 04, 2012 (137) |
| 41 | GMI | ss285102859 | Apr 25, 2013 (138) |
| 42 | PJP | ss293340545 | May 09, 2011 (134) |
| 43 | ILLUMINA | ss410925450 | Sep 17, 2011 (135) |
| 44 | PAGE_STUDY | ss469414447 | May 04, 2012 (137) |
| 45 | PAGE_STUDY | ss469415344 | May 04, 2012 (137) |
| 46 | ILLUMINA | ss480650792 | May 04, 2012 (137) |
| 47 | ILLUMINA | ss480666143 | May 04, 2012 (137) |
| 48 | ILLUMINA | ss481513389 | Sep 08, 2015 (146) |
| 49 | ILLUMINA | ss485120302 | May 04, 2012 (137) |
| 50 | EXOME_CHIP | ss491364061 | May 04, 2012 (137) |
| 51 | ILLUMINA | ss537121950 | Sep 08, 2015 (146) |
| 52 | TISHKOFF | ss558146376 | Apr 25, 2013 (138) |
| 53 | SSMP | ss651990147 | Apr 25, 2013 (138) |
| 54 | ILLUMINA | ss778504966 | Sep 08, 2015 (146) |
| 55 | ILLUMINA | ss783006503 | Sep 08, 2015 (146) |
| 56 | ILLUMINA | ss783966866 | Sep 08, 2015 (146) |
| 57 | ILLUMINA | ss825475915 | Apr 01, 2015 (144) |
| 58 | ILLUMINA | ss832263762 | Sep 08, 2015 (146) |
| 59 | ILLUMINA | ss832919658 | Jul 13, 2019 (153) |
| 60 | ILLUMINA | ss833961141 | Sep 08, 2015 (146) |
| 61 | EVA-GONL | ss981163826 | Aug 21, 2014 (142) |
| 62 | JMKIDD_LAB | ss1072325218 | Aug 21, 2014 (142) |
| 63 | 1000GENOMES | ss1313599708 | Aug 21, 2014 (142) |
| 64 | DDI | ss1430216428 | Apr 01, 2015 (144) |
| 65 | EVA_GENOME_DK | ss1580975912 | Apr 01, 2015 (144) |
| 66 | EVA_DECODE | ss1590679925 | Apr 01, 2015 (144) |
| 67 | EVA_UK10K_ALSPAC | ss1612108653 | Apr 01, 2015 (144) |
| 68 | EVA_UK10K_TWINSUK | ss1655102686 | Apr 01, 2015 (144) |
| 69 | EVA_SVP | ss1712736875 | Apr 01, 2015 (144) |
| 70 | ILLUMINA | ss1752547693 | Sep 08, 2015 (146) |
| 71 | HAMMER_LAB | ss1802921028 | Sep 08, 2015 (146) |
| 72 | WEILL_CORNELL_DGM | ss1924419830 | Feb 12, 2016 (147) |
| 73 | ILLUMINA | ss1946136648 | Feb 12, 2016 (147) |
| 74 | ILLUMINA | ss1958759503 | Feb 12, 2016 (147) |
| 75 | GENOMED | ss1969991105 | Jul 19, 2016 (147) |
| 76 | JJLAB | ss2022803407 | Sep 14, 2016 (149) |
| 77 | ILLUMINA | ss2094817572 | Dec 20, 2016 (150) |
| 78 | ILLUMINA | ss2095152780 | Dec 20, 2016 (150) |
| 79 | USC_VALOUEV | ss2150953358 | Dec 20, 2016 (150) |
| 80 | HUMAN_LONGEVITY | ss2270758029 | Dec 20, 2016 (150) |
| 81 | SYSTEMSBIOZJU | ss2625900217 | Nov 08, 2017 (151) |
| 82 | ILLUMINA | ss2634233960 | Nov 08, 2017 (151) |
| 83 | ILLUMINA | ss2634233961 | Nov 08, 2017 (151) |
| 84 | ILLUMINA | ss2635140320 | Nov 08, 2017 (151) |
| 85 | GRF | ss2706474475 | Nov 08, 2017 (151) |
| 86 | ILLUMINA | ss2711026284 | Nov 08, 2017 (151) |
| 87 | GNOMAD | ss2820318762 | Nov 08, 2017 (151) |
| 88 | AFFY | ss2985313705 | Nov 08, 2017 (151) |
| 89 | AFFY | ss2985941591 | Nov 08, 2017 (151) |
| 90 | SWEGEN | ss2996313816 | Nov 08, 2017 (151) |
| 91 | ILLUMINA | ss3022458621 | Nov 08, 2017 (151) |
| 92 | BIOINF_KMB_FNS_UNIBA | ss3025184456 | Nov 08, 2017 (151) |
| 93 | CSHL | ss3346200075 | Nov 08, 2017 (151) |
| 94 | ILLUMINA | ss3625864436 | Oct 12, 2018 (152) |
| 95 | ILLUMINA | ss3629159227 | Oct 12, 2018 (152) |
| 96 | ILLUMINA | ss3632163390 | Oct 12, 2018 (152) |
| 97 | ILLUMINA | ss3634082311 | Oct 12, 2018 (152) |
| 98 | ILLUMINA | ss3634987389 | Oct 12, 2018 (152) |
| 99 | ILLUMINA | ss3635764615 | Oct 12, 2018 (152) |
| 100 | ILLUMINA | ss3636696061 | Oct 12, 2018 (152) |
| 101 | ILLUMINA | ss3637517211 | Oct 12, 2018 (152) |
| 102 | ILLUMINA | ss3638533760 | Oct 12, 2018 (152) |
| 103 | ILLUMINA | ss3639269314 | Oct 12, 2018 (152) |
| 104 | ILLUMINA | ss3639657346 | Oct 12, 2018 (152) |
| 105 | ILLUMINA | ss3640694682 | Oct 12, 2018 (152) |
| 106 | ILLUMINA | ss3643481301 | Oct 12, 2018 (152) |
| 107 | ILLUMINA | ss3644869520 | Oct 12, 2018 (152) |
| 108 | URBANLAB | ss3647965323 | Oct 12, 2018 (152) |
| 109 | ILLUMINA | ss3652950965 | Oct 12, 2018 (152) |
| 110 | ILLUMINA | ss3654086335 | Oct 12, 2018 (152) |
| 111 | EGCUT_WGS | ss3664202735 | Jul 13, 2019 (153) |
| 112 | EVA_DECODE | ss3713952113 | Jul 13, 2019 (153) |
| 113 | ILLUMINA | ss3726206569 | Jul 13, 2019 (153) |
| 114 | ACPOP | ss3732016561 | Jul 13, 2019 (153) |
| 115 | ILLUMINA | ss3744247613 | Jul 13, 2019 (153) |
| 116 | ILLUMINA | ss3744532999 | Jul 13, 2019 (153) |
| 117 | ILLUMINA | ss3745287563 | Jul 13, 2019 (153) |
| 118 | EVA | ss3762965689 | Jul 13, 2019 (153) |
| 119 | PAGE_CC | ss3771181106 | Jul 13, 2019 (153) |
| 120 | ILLUMINA | ss3772781943 | Jul 13, 2019 (153) |
| 121 | KHV_HUMAN_GENOMES | ss3806135060 | Jul 13, 2019 (153) |
| 122 | EVA | ss3829051937 | Apr 26, 2020 (154) |
| 123 | EVA | ss3837985427 | Apr 26, 2020 (154) |
| 124 | EVA | ss3843427866 | Apr 26, 2020 (154) |
| 125 | HGDP | ss3847778353 | Apr 26, 2020 (154) |
| 126 | SGDP_PRJ | ss3861041135 | Apr 26, 2020 (154) |
| 127 | KRGDB | ss3907477928 | Apr 26, 2020 (154) |
| 128 | EVA | ss3984541527 | Apr 26, 2021 (155) |
| 129 | EVA | ss3985119504 | Apr 26, 2021 (155) |
| 130 | EVA | ss4017188633 | Apr 26, 2021 (155) |
| 131 | TOPMED | ss4647124428 | Apr 26, 2021 (155) |
| 132 | TOMMO_GENOMICS | ss5170043381 | Apr 26, 2021 (155) |
| 133 | 1000G_HIGH_COVERAGE | ss5262607335 | Oct 13, 2022 (156) |
| 134 | EVA | ss5315024752 | Oct 13, 2022 (156) |
| 135 | EVA | ss5355156619 | Oct 13, 2022 (156) |
| 136 | HUGCELL_USP | ss5460980391 | Oct 13, 2022 (156) |
| 137 | EVA | ss5507890474 | Oct 13, 2022 (156) |
| 138 | 1000G_HIGH_COVERAGE | ss5545525029 | Oct 13, 2022 (156) |
| 139 | SANFORD_IMAGENETICS | ss5624579652 | Oct 13, 2022 (156) |
| 140 | SANFORD_IMAGENETICS | ss5637024992 | Oct 13, 2022 (156) |
| 141 | TOMMO_GENOMICS | ss5705622623 | Oct 13, 2022 (156) |
| 142 | EVA | ss5799638471 | Oct 13, 2022 (156) |
| 143 | YY_MCH | ss5805951055 | Oct 13, 2022 (156) |
| 144 | EVA | ss5834408606 | Oct 13, 2022 (156) |
| 145 | EVA | ss5847259624 | Oct 13, 2022 (156) |
| 146 | EVA | ss5854644984 | Oct 13, 2022 (156) |
| 147 | EVA | ss5892681248 | Oct 13, 2022 (156) |
| 148 | EVA | ss5965432456 | Oct 13, 2022 (156) |
| 149 | EVA | ss5979728587 | Oct 13, 2022 (156) |
| 150 | 1000Genomes | NC_000005.9 - 1286516 | Oct 12, 2018 (152) |
| 151 | 1000Genomes_30x | NC_000005.10 - 1286401 | Oct 13, 2022 (156) |
| 152 | The Avon Longitudinal Study of Parents and Children | NC_000005.9 - 1286516 | Oct 12, 2018 (152) |
| 153 | Chileans | NC_000005.9 - 1286516 | Apr 26, 2020 (154) |
| 154 | Genetic variation in the Estonian population | NC_000005.9 - 1286516 | Oct 12, 2018 (152) |
| 155 | The Danish reference pan genome | NC_000005.9 - 1286516 | Apr 26, 2020 (154) |
| 156 | gnomAD - Genomes | NC_000005.10 - 1286401 | Apr 26, 2021 (155) |
| 157 | Genome of the Netherlands Release 5 | NC_000005.9 - 1286516 | Apr 26, 2020 (154) |
| 158 | HGDP-CEPH-db Supplement 1 | NC_000005.8 - 1339516 | Apr 26, 2020 (154) |
| 159 | HapMap | NC_000005.10 - 1286401 | Apr 26, 2020 (154) |
| 160 | KOREAN population from KRGDB | NC_000005.9 - 1286516 | Apr 26, 2020 (154) |
| 161 | Northern Sweden | NC_000005.9 - 1286516 | Jul 13, 2019 (153) |
| 162 | The PAGE Study | NC_000005.10 - 1286401 | Jul 13, 2019 (153) |
| 163 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000005.9 - 1286516 | Apr 26, 2021 (155) |
| 164 | CNV burdens in cranial meningiomas | NC_000005.9 - 1286516 | Apr 26, 2021 (155) |
| 165 | Qatari | NC_000005.9 - 1286516 | Apr 26, 2020 (154) |
| 166 | SGDP_PRJ | NC_000005.9 - 1286516 | Apr 26, 2020 (154) |
| 167 | Siberian | NC_000005.9 - 1286516 | Apr 26, 2020 (154) |
| 168 | 8.3KJPN | NC_000005.9 - 1286516 | Apr 26, 2021 (155) |
| 169 | 14KJPN | NC_000005.10 - 1286401 | Oct 13, 2022 (156) |
| 170 | TopMed | NC_000005.10 - 1286401 | Apr 26, 2021 (155) |
| 171 | UK 10K study - Twins | NC_000005.9 - 1286516 | Oct 12, 2018 (152) |
| 172 | A Vietnamese Genetic Variation Database | NC_000005.9 - 1286516 | Jul 13, 2019 (153) |
| 173 | ALFA | NC_000005.10 - 1286401 | Apr 26, 2021 (155) |
| 174 | ClinVar | RCV000497563.2 | Oct 13, 2022 (156) |
| 175 | ClinVar | RCV001523672.4 | Oct 13, 2022 (156) |
| 176 | ClinVar | RCV001788211.1 | Oct 13, 2022 (156) |
| 177 | ClinVar | RCV001788212.1 | Oct 13, 2022 (156) |
| 178 | ClinVar | RCV001788213.1 | 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).
| Associated ID | History Updated (Build) |
|---|---|
| rs59399762 | May 25, 2008 (130) |
| rs386572964 | Aug 21, 2014 (142) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 456245, ss76547446, ss78706660, ss86082464, ss108733073, ss111293136, ss116428639, ss164027102, ss199766850, ss207061662, ss253148781, ss278133460, ss285102859, ss293340545, ss480650792, ss825475915, ss1590679925, ss1712736875, ss2635140320, ss3639269314, ss3639657346, ss3643481301, ss3847778353 | NC_000005.8:1339515:C:A | NC_000005.10:1286400:C:A | (self) |
| 25143998, 13984083, 336702, 9940983, 7140851, 6207379, 14655322, 5301426, 345431, 90891, 6461760, 13058115, 3469712, 28012688, 13984083, 3100401, ss221466746, ss232792216, ss239996964, ss480666143, ss481513389, ss485120302, ss491364061, ss537121950, ss558146376, ss651990147, ss778504966, ss783006503, ss783966866, ss832263762, ss832919658, ss833961141, ss981163826, ss1072325218, ss1313599708, ss1430216428, ss1580975912, ss1612108653, ss1655102686, ss1752547693, ss1802921028, ss1924419830, ss1946136648, ss1958759503, ss1969991105, ss2022803407, ss2094817572, ss2095152780, ss2150953358, ss2625900217, ss2634233960, ss2634233961, ss2706474475, ss2711026284, ss2820318762, ss2985313705, ss2985941591, ss2996313816, ss3022458621, ss3346200075, ss3625864436, ss3629159227, ss3632163390, ss3634082311, ss3634987389, ss3635764615, ss3636696061, ss3637517211, ss3638533760, ss3640694682, ss3644869520, ss3652950965, ss3654086335, ss3664202735, ss3732016561, ss3744247613, ss3744532999, ss3745287563, ss3762965689, ss3772781943, ss3829051937, ss3837985427, ss3861041135, ss3907477928, ss3984541527, ss3985119504, ss4017188633, ss5170043381, ss5315024752, ss5355156619, ss5507890474, ss5624579652, ss5637024992, ss5799638471, ss5834408606, ss5847259624, ss5965432456, ss5979728587 | NC_000005.9:1286515:C:A | NC_000005.10:1286400:C:A | (self) |
| RCV000497563.2, RCV001523672.4, RCV001788211.1, RCV001788212.1, RCV001788213.1, 33050964, 177825216, 2789937, 402575, 39459727, 484501985, 2023365766, ss2270758029, ss3025184456, ss3647965323, ss3713952113, ss3726206569, ss3771181106, ss3806135060, ss3843427866, ss4647124428, ss5262607335, ss5460980391, ss5545525029, ss5705622623, ss5805951055, ss5854644984, ss5892681248 | NC_000005.10:1286400:C:A | NC_000005.10:1286400:C:A | (self) |
| ss3862475, ss44632215, ss49784115, ss66679267, ss67270819, ss67671414, ss68923805, ss70749274, ss71321429, ss75568511, ss79145397, ss80734069, ss84074980, ss98589293, ss104160048, ss122096122, ss143869993, ss154231468, ss154911351, ss159407968, ss160574818, ss171362387, ss173448224, ss209088633, ss244291719, ss410925450, ss469414447, ss469415344 | NT_006576.16:1276515:C:A | NC_000005.10:1286400:C:A | (self) |
| ss22256843 | NT_023089.13:1269253:C:A | NC_000005.10:1286400:C:A | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
246
citations for rs2736100
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 18835860 | A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis. | Mushiroda T et al. | 2008 | Journal of medical genetics |
| 18978790 | Lung cancer susceptibility locus at 5p15.33. | McKay JD et al. | 2008 | Nature genetics |
| 19369581 | Common genetic variants on 5p15.33 contribute to risk of lung adenocarcinoma in a Chinese population. | Jin G et al. | 2009 | Carcinogenesis |
| 19578366 | Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility. | Wrensch M et al. | 2009 | Nature genetics |
| 19578367 | Genome-wide association study identifies five susceptibility loci for glioma. | Shete S et al. | 2009 | Nature genetics |
| 19654303 | Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study. | Broderick P et al. | 2009 | Cancer research |
| 19836008 | A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. | Landi MT et al. | 2009 | American journal of human genetics |
| 19903803 | Re: Discriminatory accuracy from single-nucleotide polymorphisms in models to predict breast cancer risk. | Spitz MR et al. | 2009 | Journal of the National Cancer Institute |
| 19955392 | Role of 5p15.33 (TERT-CLPTM1L), 6p21.33 and 15q25.1 (CHRNA5-CHRNA3) variation and lung cancer risk in never-smokers. | Wang Y et al. | 2010 | Carcinogenesis |
| 20022891 | The evolving discipline of molecular epidemiology of cancer. | Spitz MR et al. | 2010 | Carcinogenesis |
| 20056641 | Multiple genetic variants in telomere pathway genes and breast cancer risk. | Shen J et al. | 2010 | Cancer epidemiology, biomarkers & prevention |
| 20056643 | A rigorous and comprehensive validation: common genetic variations and lung cancer. | Yang P et al. | 2010 | Cancer epidemiology, biomarkers & prevention |
| 20061363 | Individuals susceptible to lung adenocarcinoma defined by combined HLA-DQA1 and TERT genotypes. | Kohno T et al. | 2010 | Carcinogenesis |
| 20142248 | Cumulative effect of multiple loci on genetic susceptibility to familial lung cancer. | Liu P et al. | 2010 | Cancer epidemiology, biomarkers & prevention |
| 20211558 | Genetic advances in glioma: susceptibility genes and networks. | Liu Y et al. | 2010 | Current opinion in genetics & development |
| 20212223 | New insights into susceptibility to glioma. | Liu Y et al. | 2010 | Archives of neurology |
| 20368557 | Polymorphisms of LIG4, BTBD2, HMGA2, and RTEL1 genes involved in the double-strand break repair pathway predict glioblastoma survival. | Liu Y et al. | 2010 | Journal of clinical oncology |
| 20462933 | Interaction between 5 genetic variants and allergy in glioma risk. | Schoemaker MJ et al. | 2010 | American journal of epidemiology |
| 20505153 | A compendium of genome-wide associations for cancer: critical synopsis and reappraisal. | Ioannidis JP et al. | 2010 | Journal of the National Cancer Institute |
| 20543847 | Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. | Turnbull C et al. | 2010 | Nature genetics |
| 20548021 | Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium. | Truong T et al. | 2010 | Journal of the National Cancer Institute |
| 20549820 | Telomere length and genetic analyses in population-based studies of endometrial cancer risk. | Prescott J et al. | 2010 | Cancer |
| 20585100 | Genome-wide association studies of cancer. | Stadler ZK et al. | 2010 | Journal of clinical oncology |
| 20597107 | The association of telomere length and genetic variation in telomere biology genes. | Mirabello L et al. | 2010 | Human mutation |
| 20628624 | Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot". | Johnatty SE et al. | 2010 | PLoS genetics |
| 20700438 | The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia. | Hsiung CA et al. | 2010 | PLoS genetics |
| 20847058 | Genetic risk profiles identify different molecular etiologies for glioma. | Simon M et al. | 2010 | Clinical cancer research |
| 20871597 | Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations. | Miki D et al. | 2010 | Nature genetics |
| 20937264 | Genetic variants in eleven telomere-associated genes and the risk of incident cardio/cerebrovascular disease: The Women's Genome Health Study. | Zee RY et al. | 2011 | Clinica chimica acta; international journal of clinical chemistry |
| 21081471 | Genetic variations on chromosomes 5p15 and 15q25 and bladder cancer risk: findings from the Los Angeles-Shanghai bladder case-control study. | Gago-Dominguez M et al. | 2011 | Carcinogenesis |
| 21116649 | Genetic variants in telomere-maintaining genes and skin cancer risk. | Nan H et al. | 2011 | Human genetics |
| 21203894 | Cancer susceptibility variants and the risk of adult glioma in a US case-control study. | Egan KM et al. | 2011 | Journal of neuro-oncology |
| 21219822 | [Recent progress in genetic variants associated with cancer and their implications in diagnostics development]. | Cho WC et al. | 2011 | Zhongguo fei ai za zhi = Chinese journal of lung cancer |
| 21258621 | Genetic Variations in Telomere Maintenance, with Implications on Tissue Renewal Capacity and Chronic Disease Pathologies. | Trudeau MA et al. | 2010 | Current pharmacogenomics and personalized medicine |
| 21500120 | Lung cancer in never smokers. | Yang P et al. | 2011 | Seminars in respiratory and critical care medicine |
| 21531791 | Chromosome 7p11.2 (EGFR) variation influences glioma risk. | Sanson M et al. | 2011 | Human molecular genetics |
| 21551455 | A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility. | Kanetsky PA et al. | 2011 | Human molecular genetics |
| 21564132 | A stratified genetic risk assessment for testicular cancer. | Kratz CP et al. | 2011 | International journal of andrology |
| 21617256 | Variants in or near KITLG, BAK1, DMRT1, and TERT-CLPTM1L predispose to familial testicular germ cell tumour. | Kratz CP et al. | 2011 | Journal of medical genetics |
| 21708826 | TERC polymorphisms are associated both with susceptibility to colorectal cancer and with longer telomeres. | Jones AM et al. | 2012 | Gut |
| 21725308 | A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese. | Hu Z et al. | 2011 | Nature genetics |
| 21731055 | Worldwide genetic structure in 37 genes important in telomere biology. | Mirabello L et al. | 2012 | Heredity |
| 21742680 | Associations of high-grade glioma with glioma risk alleles and histories of allergy and smoking. | Lachance DH et al. | 2011 | American journal of epidemiology |
| 21771723 | Novel genetic variants in the chromosome 5p15.33 region associate with lung cancer risk. | Pande M et al. | 2011 | Carcinogenesis |
| 21825990 | Genetic causes of glioma: new leads in the labyrinth. | Melin B et al. | 2011 | Current opinion in oncology |
| 21827660 | Combinations of newly confirmed Glioma-Associated loci link regions on chromosomes 1 and 9 to increased disease risk. | Yang TH et al. | 2011 | BMC medical genomics |
| 21920947 | Joint associations between genetic variants and reproductive factors in glioma risk among women. | Wang SS et al. | 2011 | American journal of epidemiology |
| 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 |
| 21966413 | Smoking related cancers and loci at chromosomes 15q25, 5p15, 6p22.1 and 6p21.33 in the Polish population. | Jaworowska E et al. | 2011 | PloS one |
| 22037553 | A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. | Haiman CA et al. | 2011 | Nature genetics |
| 22037877 | Genome-wide high-density SNP linkage search for glioma susceptibility loci: results from the Gliogene Consortium. | Shete S et al. | 2011 | Cancer research |
| 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 |
| 22221621 | The TERT rs2736100 polymorphism and cancer risk: a meta-analysis based on 25 case-control studies. | Zou P et al. | 2012 | BMC cancer |
| 22228261 | Common genetic variants in TERT contribute to risk of cervical cancer in a Chinese population. | Wang S et al. | 2012 | Molecular carcinogenesis |
| 22267287 | Telomere length and genetic variation in telomere maintenance genes in relation to ovarian cancer risk. | Terry KL et al. | 2012 | Cancer epidemiology, biomarkers & prevention |
| 22276117 | The association between ATM IVS 22-77 T>C and cancer risk: a meta-analysis. | Zhao L et al. | 2012 | PloS one |
| 22351525 | TERT's role in colorectal carcinogenesis. | Pellatt AJ et al. | 2013 | Molecular carcinogenesis |
| 22370939 | Multiple variants of TERT and CLPTM1L constitute risk factors for lung adenocarcinoma. | Chen XF et al. | 2012 | Genetics and molecular research |
| 22382497 | Lung cancer and DNA repair genes: multilevel association analysis from the International Lung Cancer Consortium. | Kazma R et al. | 2012 | Carcinogenesis |
| 22404340 | Replication of results of genome-wide association studies on lung cancer susceptibility loci in a Korean population. | Bae EY et al. | 2012 | Respirology (Carlton, Vic.) |
| 22510351 | Defining a gene promoter methylation signature in sputum for lung cancer risk assessment. | Leng S et al. | 2012 | Clinical cancer research |
| 22523397 | Telomerase reverse transcriptase locus polymorphisms and cancer risk: a field synopsis and meta-analysis. | Mocellin S et al. | 2012 | Journal of the National Cancer Institute |
| 22539396 | hTERT cancer risk genotypes are associated with telomere length. | Melin BS et al. | 2012 | Genetic epidemiology |
| 22585858 | Inherited variation at chromosome 12p13.33, including RAD52, influences the risk of squamous cell lung carcinoma. | Shi J et al. | 2012 | Cancer discovery |
| 22586632 | Variants in inflammation genes are implicated in risk of lung cancer in never smokers exposed to second-hand smoke. | Spitz MR et al. | 2011 | Cancer discovery |
| 22662130 | Using prior information from the medical literature in GWAS of oral cancer identifies novel susceptibility variant on chromosome 4--the AdAPT method. | Johansson M et al. | 2012 | PloS one |
| 22711262 | Systematic evaluation of bladder cancer risk-associated single-nucleotide polymorphisms in a Chinese population. | Ma Z et al. | 2013 | Molecular carcinogenesis |
| 22878375 | The TERT variant rs2736100 is associated with colorectal cancer risk. | Kinnersley B et al. | 2012 | British journal of cancer |
| 22886559 | Genome-wide association study of glioma and meta-analysis. | Rajaraman P et al. | 2012 | Human genetics |
| 22889990 | Natural and orthogonal interaction framework for modeling gene-environment interactions with application to lung cancer. | Ma J et al. | 2012 | Human heredity |
| 22899653 | Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls. | Timofeeva MN et al. | 2012 | Human molecular genetics |
| 22945651 | Epigenetic screen identifies genotype-specific promoter DNA methylation and oncogenic potential of CHRNB4. | Scherf DB et al. | 2013 | Oncogene |
| 22988944 | Network-based SNP meta-analysis identifies joint and disjoint genetic features across common human diseases. | Arnold M et al. | 2012 | BMC genomics |
| 23050049 | Genetic and lifestyle influence on telomere length and subsequent risk of colon cancer in a case control study. | Pellatt AJ et al. | 2012 | International journal of molecular epidemiology and genetics |
| 23050056 | Genetic variation in telomere maintenance genes in relation to ovarian cancer survival. | Harris HR et al. | 2012 | International journal of molecular epidemiology and genetics |
| 23091480 | Leveraging ethnic group incidence variation to investigate genetic susceptibility to glioma: a novel candidate SNP approach. | Jacobs DI et al. | 2012 | Frontiers in genetics |
| 23115063 | Known glioma risk loci are associated with glioma with a family history of brain tumours -- a case-control gene association study. | Melin B et al. | 2013 | International journal of cancer |
| 23161787 | Association between glioma susceptibility loci and tumour pathology defines specific molecular etiologies. | Di Stefano AL et al. | 2013 | Neuro-oncology |
| 23221128 | Fine-mapping of the 5p15.33, 6p22.1-p21.31, and 15q25.1 regions identifies functional and histology-specific lung cancer susceptibility loci in African-Americans. | Walsh KM et al. | 2013 | Cancer epidemiology, biomarkers & prevention |
| 23228068 | Prediction of lung cancer risk in a Chinese population using a multifactorial genetic model. | Li H et al. | 2012 | BMC medical genetics |
| 23236348 | EGFR gene variants are associated with specific somatic aberrations in glioma. | Wibom C et al. | 2012 | PloS one |
| 23267696 | Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Chinese Han population: a case-control study. | Guo Y et al. | 2012 | BMC medical genomics |
| 23349013 | Genetic susceptibility to lung cancer--light at the end of the tunnel? | Marshall AL et al. | 2013 | Carcinogenesis |
| 23368278 | Significant association of 5p15.33 (TERT-CLPTM1L genes) with lung cancer in Chinese Han population. | Zhao Z et al. | 2013 | Experimental lung research |
| 23370545 | Hierarchical modeling identifies novel lung cancer susceptibility variants in inflammation pathways among 10,140 cases and 11,012 controls. | Brenner DR et al. | 2013 | Human genetics |
| 23408875 | Getting more out of biomedical documents with GATE's full lifecycle open source text analytics. | Cunningham H et al. | 2013 | PLoS computational biology |
| 23433592 | Genetic polymorphisms of TERT and CLPTM1L and risk of lung cancer--a case-control study in a Chinese population. | Myneni AA et al. | 2013 | Lung cancer (Amsterdam, Netherlands) |
| 23454887 | Role of selected genetic variants in lung cancer risk in African Americans. | Spitz MR et al. | 2013 | Journal of thoracic oncology |
| 23469231 | Pathway analysis for genome-wide association study of lung cancer in Han Chinese population. | Zhang R et al. | 2013 | 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 |
| 23583980 | Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. | Fingerlin TE et al. | 2013 | Nature genetics |
| 23707794 | Genetic variants in TERT-CLPTM1L genetic region associated with several types of cancer: a meta-analysis. | Li C et al. | 2013 | Gene |
| 23733245 | Genetic variants in telomerase-related genes are associated with an older age at diagnosis in glioma patients: evidence for distinct pathways of gliomagenesis. | Walsh KM et al. | 2013 | Neuro-oncology |
| 23772147 | Genome-wide association study of lung cancer in Korean non-smoking women. | Kim JH et al. | 2013 | Journal of Korean medical science |
| 23870182 | Bridging the clinical gaps: genetic, epigenetic and transcriptomic biomarkers for the early detection of lung cancer in the post-National Lung Screening Trial era. | Brothers JF et al. | 2013 | BMC medicine |
| 23903690 | Joint effects between five identified risk variants, allergy, and autoimmune conditions on glioma risk. | Safaeian M et al. | 2013 | Cancer causes & control |
| 23946381 | Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. | Ma X et al. | 2014 | Gut |
| 24269974 | Genetic variants in telomerase reverse transcriptase (TERT) and telomerase-associated protein 1 (TEP1) and the risk of male infertility. | Yan L et al. | 2014 | Gene |
| 24274136 | Biobanking across the phenome - at the center of chronic disease research. | Imboden M et al. | 2013 | BMC public health |
| 24283584 | TERT genetic polymorphism rs2736100 was associated with lung cancer: a meta-analysis based on 14,492 subjects. | Wang HM et al. | 2013 | Genetic testing and molecular biomarkers |
| 24390616 | Association between TERT rs2736100 polymorphism and lung cancer susceptibility: evidence from 22 case-control studies. | Yuan Y et al. | 2014 | Tumour biology |
| 24420154 | TERT rs2736100T/G polymorphism upregulates interleukin 6 expression in non-small cell lung cancer especially in adenocarcinoma. | Wang F et al. | 2014 | Tumour biology |
| 24425829 | Leukocyte telomere length associates with prospective mortality independent of immune-related parameters and known genetic markers. | Deelen J et al. | 2014 | International journal of epidemiology |
| 24434656 | Association between MUC5B and TERT polymorphisms and different interstitial lung disease phenotypes. | Wei R et al. | 2014 | Translational research |
| 24476768 | The germline sequence variant rs2736100_C in TERT associates with myeloproliferative neoplasms. | Oddsson A et al. | 2014 | Leukemia |
| 24535778 | TERT rs2736100 polymorphism contributes to lung cancer risk: a meta-analysis including 49,869 cases and 73,464 controls. | Nie W et al. | 2014 | Tumour biology |
| 24580776 | Stability SCAD: a powerful approach to detect interactions in large-scale genomic study. | Gou J et al. | 2014 | BMC bioinformatics |
| 24587672 | New genes emerging for colorectal cancer predisposition. | Esteban-Jurado C et al. | 2014 | World journal of gastroenterology |
| 24590268 | Increased lung cancer risk associated with the TERT rs2736100 polymorphism: an updated meta-analysis. | Yang J et al. | 2014 | Tumour biology |
| 24615522 | Quantitative assessment of common genetic variants on chromosome 5p15 and lung cancer risk. | Wu H et al. | 2014 | Tumour biology |
| 24692499 | Associations between 25 lung cancer risk-related SNPs and polycyclic aromatic hydrocarbon-induced genetic damage in coke oven workers. | Dai X et al. | 2014 | Cancer epidemiology, biomarkers & prevention |
| 24888789 | Association between telomerase reverse transcriptase rs2736100 polymorphism and risk of glioma. | Zhou P et al. | 2014 | The Journal of surgical research |
| 24904205 | Association between previously identified loci affecting telomere length and coronary heart disease (CHD) in Han Chinese population. | Ding H et al. | 2014 | Clinical interventions in aging |
| 25007268 | TERT-CLPTM1L Rs401681 C>T polymorphism was associated with a decreased risk of esophageal cancer in a Chinese population. | Yin J et al. | 2014 | PloS one |
| 25037574 | Genetic polymorphisms of TERT and CLPTM1L, cooking oil fume exposure, and risk of lung cancer: a case-control study in a Chinese non-smoking female population. | Yin Z et al. | 2014 | Medical oncology (Northwood, London, England) |
| 25196853 | Common germline variation at the TERT locus contributes to familial clustering of myeloproliferative neoplasms. | Jäger R et al. | 2014 | American journal of hematology |
| 25233467 | Role of nicotine dependence on the relationship between variants in the nicotinic receptor genes and risk of lung adenocarcinoma. | Tseng TS et al. | 2014 | PloS one |
| 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 |
| 25381796 | Telomere length and the risk of atrial fibrillation: insights into the role of biological versus chronological aging. | Roberts JD et al. | 2014 | Circulation. Arrhythmia and electrophysiology |
| 25415319 | Association of GWAS-identified lung cancer susceptibility loci with survival length in patients with small-cell lung cancer treated with platinum-based chemotherapy. | Li D et al. | 2014 | PloS one |
| 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 |
| 25516442 | Genetic variants associated with longer telomere length are associated with increased lung cancer risk among never-smoking women in Asia: a report from the female lung cancer consortium in Asia. | Machiela MJ et al. | 2015 | International journal of cancer |
| 25738283 | Association of genetic polymorphisms in the telomerase reverse transcriptase gene with prostate cancer aggressiveness. | Wu D et al. | 2015 | Molecular medicine reports |
| 25849990 | Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms. | Tapper W et al. | 2015 | Nature communications |
| 25940397 | TERT gene harbors multiple variants associated with pancreatic cancer susceptibility. | Campa D et al. | 2015 | International journal of cancer |
| 26014354 | CCDC26, CDKN2BAS, RTEL1 and TERT Polymorphisms in pediatric brain tumor susceptibility. | Adel Fahmideh M et al. | 2015 | Carcinogenesis |
| 26025910 | Telomere length, genetic variants and gastric cancer risk in a Chinese population. | Du J et al. | 2015 | Carcinogenesis |
| 26138067 | Genetic determinants of telomere length and risk of common cancers: a Mendelian randomization study. | Zhang C et al. | 2015 | Human molecular genetics |
| 26143636 | TERT promoter mutations and polymorphisms as prognostic factors in primary glioblastoma. | Mosrati MA et al. | 2015 | Oncotarget |
| 26149460 | TERT Polymorphism rs2736100-C Is Associated with EGFR Mutation-Positive Non-Small Cell Lung Cancer. | Wei R et al. | 2015 | Clinical cancer research |
| 26201603 | Sequence variation in telomerase reverse transcriptase (TERT) as a determinant of risk of cardiovascular disease: the Atherosclerosis Risk in Communities (ARIC) study. | Bressler J et al. | 2015 | BMC medical genetics |
| 26243184 | An Updated and Comprehensive Meta-Analysis of Association Between Seven Hot Loci Polymorphisms from Eight GWAS and Glioma Risk. | Wu Q et al. | 2016 | Molecular neurobiology |
| 26294352 | Association of human telomerase reverse transcriptase gene polymorphisms, serum levels, and telomere length with renal cell carcinoma risk and pathology. | de Martino M et al. | 2016 | Molecular carcinogenesis |
| 26298771 | Association between TERT promoter polymorphisms and acute myeloid leukemia risk and prognosis. | Mosrati MA et al. | 2015 | Oncotarget |
| 26309358 | Influence of the hTERT rs2736100 polymorphism on telomere length in gastric cancer. | Choi BJ et al. | 2015 | World journal of gastroenterology |
| 26352532 | Lung Cancer Risk Prediction Using Common SNPs Located in GWAS-Identified Susceptibility Regions. | Weissfeld JL et al. | 2015 | Journal of thoracic oncology |
| 26406970 | hTERT genetic variation in depression. | Wei YB et al. | 2016 | Journal of affective disorders |
| 26487696 | Co-occurrence of Myeloproliferative Neoplasms and Solid Tumors Is Attributed to a Synergism Between Cytoreductive Therapy and the Common TERT Polymorphism rs2736100. | Krahling T et al. | 2016 | Cancer epidemiology, biomarkers & prevention |
| 26501986 | Telomerase Reverse Transcriptase (TERT) Gene Variations and Susceptibility of Colorectal Cancer. | Jannuzzi AT et al. | 2015 | Genetic testing and molecular biomarkers |
| 26590902 | Fine mapping of chromosome 5p15.33 based on a targeted deep sequencing and high density genotyping identifies novel lung cancer susceptibility loci. | Kachuri L et al. | 2016 | Carcinogenesis |
| 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 |
| 26646793 | Longer genotypically-estimated leukocyte telomere length is associated with increased adult glioma risk. | Walsh KM et al. | 2015 | Oncotarget |
| 26716642 | The identification of two regulatory ESCC susceptibility genetic variants in the TERT-CLPTM1L loci. | Zhou L et al. | 2016 | Oncotarget |
| 26792595 | Genetic susceptibility loci of idiopathic interstitial pneumonia do not represent risk for systemic sclerosis: a case control study in Caucasian patients. | Wu M et al. | 2016 | Arthritis research & therapy |
| 26839018 | Genetic risk variants in the CDKN2A/B, RTEL1 and EGFR genes are associated with somatic biomarkers in glioma. | Ghasimi S et al. | 2016 | Journal of neuro-oncology |
| 26843622 | A TET2 rs3733609 C/T genotype is associated with predisposition to the myeloproliferative neoplasms harboring JAK2(V617F) and confers a proliferative potential on erythroid lineages. | Shen XH et al. | 2016 | Oncotarget |
| 26857734 | Telomere length, genetic variants and risk of squamous cell carcinoma of the head and neck in Southeast Chinese. | Gu Y et al. | 2016 | Scientific reports |
| 26893575 | Candidate genes of idiopathic pulmonary fibrosis: current evidence and research. | Zhou W et al. | 2016 | The application of clinical genetics |
| 26906551 | Pre-diagnostic serum levels of EGFR and ErbB2 and genetic glioma risk variants: a nested case-control study. | Späth F et al. | 2016 | Tumour biology |
| 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 |
| 27029497 | Telomere length connects melanoma and glioma predispositions. | Endicott AA et al. | 2016 | Aging |
| 27078840 | Genetic Variants Associated with Colorectal Adenoma Susceptibility. | Abulí A et al. | 2016 | PloS one |
| 27079684 | Genome-wide association studies and epigenome-wide association studies go together in cancer control. | Verma M et al. | 2016 | Future oncology (London, England) |
| 27154632 | Case-Control Study on Impact of the Telomerase Reverse Transcriptase Gene Polymorphism and Additional Single Nucleotide Polymorphism (SNP)- SNP Interaction on Non-Small Cell Lung Cancers Risk in Chinese Han Population. | Xing YL et al. | 2016 | Journal of clinical laboratory analysis |
| 27162544 | Combining Telomerase Reverse Transcriptase Genetic Variant rs2736100 with Epidemiologic Factors in the Prediction of Lung Cancer Susceptibility. | Wang X et al. | 2016 | Journal of Cancer |
| 27167335 | Relative telomere lengths in tumor and normal mucosa are related to disease progression and chromosome instability profiles in colorectal cancer. | Suraweera N et al. | 2016 | Oncotarget |
| 27185198 | Functional evaluation of TERT-CLPTM1L genetic variants associated with susceptibility of papillary thyroid carcinoma. | Ge M et al. | 2016 | Scientific reports |
| 27186328 | Genes, environment and gene expression in colon tissue: a pathway approach to determining functionality. | Slattery ML et al. | 2016 | International journal of molecular epidemiology and genetics |
| 27191258 | Rs2853677 modulates Snail1 binding to the TERT enhancer and affects lung adenocarcinoma susceptibility. | Li X et al. | 2016 | Oncotarget |
| 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 |
| 27365426 | Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms. | Hinds DA et al. | 2016 | Blood |
| 27367732 | Human Specific Regulation of the Telomerase Reverse Transcriptase Gene. | Zhang F et al. | 2016 | Genes |
| 27391763 | Longitudinal decline of leukocyte telomere length in old age and the association with sex and genetic risk. | Berglund K et al. | 2016 | Aging |
| 27424552 | Genomics era and complex disorders: Implications of GWAS with special reference to coronary artery disease, type 2 diabetes mellitus, and cancers. | Pranavchand R et al. | 2016 | Journal of postgraduate medicine |
| 27462317 | Association Study for 26 Candidate Loci in Idiopathic Pulmonary Fibrosis Patients from Four European Populations. | Kishore A et al. | 2016 | Frontiers in immunology |
| 27501781 | Association of variations in HLA class II and other loci with susceptibility to EGFR-mutated lung adenocarcinoma. | Shiraishi K et al. | 2016 | Nature communications |
| 27561898 | TERT rs2736100 genotypes are associated with differential risk of myeloproliferative neoplasms in Swedish and Chinese male patient populations. | Dahlström J et al. | 2016 | Annals of hematology |
| 27780202 | Relation between Established Glioma Risk Variants and DNA Methylation in the Tumor. | Dahlin AM et al. | 2016 | PloS one |
| 27804980 | Novel identified associations of RGS1 and RASGRP1 variants in IgA Nephropathy. | Zhou XJ et al. | 2016 | Scientific reports |
| 27805284 | Susceptibility loci of CNOT6 in the general mRNA degradation pathway and lung cancer risk-A re-analysis of eight GWASs. | Zhou F et al. | 2017 | Molecular carcinogenesis |
| 27812514 | Association between Genetic Variations Affecting Mean Telomere Length and the Prevalence of Hypertension and Coronary Heart Disease in Koreans. | Paik JK et al. | 2016 | Clinical nutrition research |
| 27929092 | The known genetic loci for telomere length may be involved in the modification of telomeres length after birth. | Weng Q et al. | 2016 | Scientific reports |
| 28195142 | A genome-wide association study yields five novel thyroid cancer risk loci. | Gudmundsson J et al. | 2017 | Nature communications |
| 28233473 | Genetic variants in telomere-maintenance genes are associated with ovarian cancer risk and outcome. | Sun Y et al. | 2017 | Journal of cellular and molecular medicine |
| 28233563 | Genetic predisposition to advanced biological ageing increases risk for childhood-onset recurrent major depressive disorder in a large UK sample. | Michalek JE et al. | 2017 | Journal of affective disorders |
| 28264873 | Genetically Predicted Telomere Length is not Associated with Pancreatic Cancer Risk. | Antwi SO et al. | 2017 | Cancer epidemiology, biomarkers & prevention |
| 28300824 | Association Between the Telomerase rs2736098_TT Genotype and a Lower Risk of Chronic Hepatitis B and Cirrhosis in Chinese Males. | Cheng G et al. | 2017 | Clinical and translational gastroenterology |
| 28416747 | The TERT promoter mutation incidence is modified by germline TERT rs2736098 and rs2736100 polymorphisms in hepatocellular carcinoma. | Yuan X et al. | 2017 | Oncotarget |
| 28418878 | The TERT rs2736100 polymorphism increases cancer risk: A meta-analysis. | Li H et al. | 2017 | Oncotarget |
| 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 |
| 28587656 | The correlations between DNA methylation and polymorphisms in the promoter region of the human telomerase reverse transcriptase (hTERT) gene with postoperative recurrence in patients with thyroid carcinoma (TC). | Li JJ et al. | 2017 | World journal of surgical oncology |
| 28827732 | Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies. | Wang J et al. | 2017 | Scientific reports |
| 28862766 | Genomic profiles of lung cancer associated with idiopathic pulmonary fibrosis. | Hwang JA et al. | 2018 | The Journal of pathology |
| 29047144 | MECOM, HBS1L-MYB, THRB-RARB, JAK2, and TERT polymorphisms defining the genetic predisposition to myeloproliferative neoplasms: A study on 939 patients. | Trifa AP et al. | 2018 | American journal of hematology |
| 29100304 | Germline variations at JAK2, TERT, HBS1L-MYB and MECOM and the risk of myeloproliferative neoplasms in Taiwanese population. | Chiang YH et al. | 2017 | Oncotarget |
| 29133146 | Association of genetic polymorphisms with erythrocyte traits: Verification of SNPs reported in a previous GWAS in a Japanese population. | Seiki T et al. | 2018 | Gene |
| 29332343 | Clinical relevance of telomerase polymorphism for breast cancer: A systematic review. | de Souza Rodrigues K et al. | 2017 | Journal of B.U.ON. |
| 29450669 | Association of TERT-CLPTM1L and 8q24 Common Genetic Variants with Gallbladder Cancer Susceptibility and Prognosis in North Indian Population. | Yadav S et al. | 2018 | Biochemical genetics |
| 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) |
| 29536006 | Telomerase Reverse Transcriptase Polymorphism rs2736100: A Balancing Act between Cancer and Non-Cancer Disease, a Meta-Analysis. | Snetselaar R et al. | 2018 | Frontiers in medicine |
| 29688369 | The SNPcurator: literature mining of enriched SNP-disease associations. | Tawfik NS et al. | 2018 | Database |
| 29771920 | Maternal human telomerase reverse transcriptase variants are associated with preterm labor and preterm premature rupture of membranes. | Marrs C et al. | 2018 | PloS one |
| 29809284 | Fine mapping in TERT-CLPTM1L region identified three independent lung cancer susceptibility signals: A large-scale multi-ethnic population study. | Li Z et al. | 2018 | Molecular carcinogenesis |
| 29967663 | Occupational Exposure to Pesticides in Tobacco Fields: The Integrated Evaluation of Nutritional Intake and Susceptibility on Genomic and Epigenetic Instability. | Kahl VFS et al. | 2018 | Oxidative medicine and cellular longevity |
| 30012914 | Genotyping of single nucleotide polymorphisms using the SNP-RFLP method. | Saifullah et al. | 2018 | Bioscience trends |
| 30325019 | Genetic determinants of telomere length and risk of pancreatic cancer: A PANDoRA study. | Campa D et al. | 2019 | International journal of cancer |
| 30337837 | Single nucleotide polymorphisms and sporadic colorectal cancer susceptibility: a field synopsis and meta-analysis. | Wen J et al. | 2018 | Cancer cell international |
| 30685566 | Telomere shortening in blood leukocytes of patients with posttraumatic stress disorder. | Avetyan D et al. | 2019 | Journal of psychiatric research |
| 30738744 | The TERT locus genotypes of rs2736100-CC/CA and rs2736098-AA predict shorter survival in renal cell carcinoma. | Ma R et al. | 2019 | Urologic oncology |
| 30769869 | No Causal Effect of Telomere Length on Ischemic Stroke and Its Subtypes: A Mendelian Randomization Study. | Cao W et al. | 2019 | Cells |
| 30796745 | Longer genotypically-estimated leukocyte telomere length is associated with increased meningioma risk. | Muskens IS et al. | 2019 | Journal of neuro-oncology |
| 31146136 | Genetic polymorphisms, mRNA expression levels of telomere-binding proteins, and associates with telomere damage in PAHs-Exposure workers. | Duan X et al. | 2019 | Chemosphere |
| 31239704 | Variability within the human TERT gene, telomere length and predisposition to chronic lymphocytic leukemia. | Wysoczanska B et al. | 2019 | OncoTargets and therapy |
| 31388112 | Association between common telomere length genetic variants and telomere length in an African population and impacts of HIV and TB. | Wang S et al. | 2019 | Journal of human genetics |
| 31429604 | Polymorphisms of the TERT-CLPTM1L Gene Are Associated with Pharynx-Larynx Cancer. | Yu J et al. | 2019 | DNA and cell biology |
| 31538903 | Association between hTERT Polymorphisms and Female Papillary Thyroid Carcinoma. | Liu Y et al. | 2019 | Recent patents on anti-cancer drug discovery |
| 31571131 | TERT and JAK2 polymorphisms define genetic predisposition to myeloproliferative neoplasms in Japanese patients. | Matsuguma M et al. | 2019 | International journal of hematology |
| 31651569 | Associations of telomerase reverse transcriptase rs10069690 and rs2736100 polymorphisms with papillary thyroid carcinoma. | Liu Y et al. | 2020 | European journal of cancer prevention |
| 31653936 | The relationship between MUC5B promoter, TERT polymorphisms and telomere lengths with radiographic extent and survival in a Chinese IPF cohort. | Wang H et al. | 2019 | Scientific reports |
| 31721021 | Replication of GWAS identifies RTEL1, CDKN2A/B, and PHLDB1 SNPs as risk factors in Portuguese gliomas patients. | Viana-Pereira M et al. | 2020 | Molecular biology reports |
| 31818908 | Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer. | Montazeri Z et al. | 2020 | Gut |
| 32022527 | Synchronous and multiple renal cell carcinoma, clear cell and papillary: An approach to clinically significant genetic abnormalities. | Cifuentes-C L et al. | 2020 | International braz j urol |
| 32202925 | The TERT rs2736100 Polymorphism and Susceptibility to Myeloproliferative Neoplasms: A Systematic Review and Meta-Analysis. | Hong T et al. | 2020 | Genetic testing and molecular biomarkers |
| 32212792 | Association between Telomere-Related Polymorphisms and the Risk of IPF and COPD as a Precursor Lesion of Lung Cancer: Findings from the Fukuoka Tobacco-Related Lung Disease (FOLD) Registry. | Arimura-Omori M et al. | 2020 | Asian Pacific journal of cancer prevention |
| 32333749 | NAF1 rs4691896 Is Significantly Associated with Coal Workers' Pneumoconiosis in a Chinese Han Population: A Case-Control Study. | Yuan B et al. | 2020 | Medical science monitor |
| 32366311 | The telomerase gene polymorphisms, but not telomere length, increase susceptibility to primary glomerulonephritis/end stage renal diseases in females. | Sun Q et al. | 2020 | Journal of translational medicine |
| 32401182 | Association of hTERT SNP (rs2736100) with implantation failure after in vitro fertilization and embryo transfer (IVF-ET). | Tajalli S et al. | 2021 | British journal of biomedical science |
| 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 |
| 32728337 | Computational Prediction of Probable Single Nucleotide Polymorphism-Cancer Relationships. | Bakhtiari S et al. | 2020 | Cancer informatics |
| 32783258 | Association of strong risk of hTERT gene polymorphic variants to malignant glioma and its prognostic implications with respect to different histological types and survival of glioma cases. | Pandith AA et al. | 2020 | The journal of gene medicine |
| 32873778 | Genetic polymorphisms associated with telomere length and risk of developing myeloproliferative neoplasms. | Giaccherini M et al. | 2020 | Blood cancer journal |
| 32894086 | MassARRAY-based single nucleotide polymorphism analysis in breast cancer of north Indian population. | Bakshi D et al. | 2020 | BMC cancer |
| 32922179 | Shorter Leukocyte Telomere Length coupled with lower expression of Telomerase Genes in patients with Essential Hypertension. | Cheng G et al. | 2020 | International journal of medical sciences |
| 32922609 | Patients with benign prostatic hyperplasia show shorter leukocyte telomere length but no association with telomerase gene polymorphisms in Han Chinese males. | Cheng G et al. | 2020 | International journal of clinical and experimental pathology |
| 32937184 | The influence of TERC, TERT and ACYP2 genes polymorphisms on plasma telomerase concentration, telomeres length and T2DM. | AlDehaini DMB et al. | 2021 | Gene |
| 33020596 | Searching for causal relationships of glioma: a phenome-wide Mendelian randomisation study. | Saunders CN et al. | 2021 | British journal of cancer |
| 33076992 | Association of TERT and DSP variants with microscopic polyangiitis and myeloperoxidase-ANCA positive vasculitis in a Japanese population: a genetic association study. | Kawasaki A et al. | 2020 | Arthritis research & therapy |
| 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 |
| 33906323 | The Association of Aging-Related Polymorphisms with Susceptibility to Lung Cancer: A Case-Control Study in a Japanese Population. | Furuie H et al. | 2021 | Asian Pacific journal of cancer prevention |
| 33993221 | Pulmonary fibrosis in relation to genetic loci in an inception cohort of patients with early rheumatoid arthritis from northern Sweden. | Jönsson E et al. | 2022 | Rheumatology (Oxford, England) |
| 34113796 | Analogous telomeres shortening and different metabolic profile: hypertension versus hypertension/type 2 diabetes mellitus comorbidity. | AlDehaini DMB et al. | 2021 | Cardiovascular endocrinology & metabolism |
| 34181135 | TERT Gene rs2736100 and rs2736098 Polymorphisms are Associated with Increased Cancer Risk: A Meta-Analysis. | Zhang X et al. | 2022 | Biochemical genetics |
| 34490311 | Differential Genomic Profile in TERT, DSP, and FAM13A Between COPD Patients With Emphysema, IPF, and CPFE Syndrome. | Guzmán-Vargas J et al. | 2021 | Frontiers in medicine |
| 34540891 | Umbrella Review on Associations Between Single Nucleotide Polymorphisms and Lung Cancer Risk. | Li X et al. | 2021 | Frontiers in molecular biosciences |
| 34850768 | Association between the rs2736100 polymorphisms of telomerase reverse transcriptase gene and digestive cancers: A meta-analysis. | Song H et al. | 2021 | Journal of cancer research and therapeutics |
| 34950210 | Genetic Variants Associated with Thyroid Cancer Risk: Comprehensive Research Synopsis, Meta-Analysis, and Cumulative Epidemiological Evidence. | Ran R et al. | 2021 | Journal of oncology |
| 35098380 | The association of telomere maintenance and TERT expression with susceptibility to human papillomavirus infection in cervical epithelium. | Wang LN et al. | 2022 | Cellular and molecular life sciences |
| 35101137 | Gene-gene interaction of AhRwith and within the Wntcascade affects susceptibility to lung cancer. | Rosenberger A et al. | 2022 | European journal of medical research |
| 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 |
| 35251326 | Role of hTERT rs2736100 in pathological scarring. | Ilieș RF et al. | 2022 | Experimental and therapeutic medicine |
| 35368045 | Predicted leukocyte telomere length and risk of germ cell tumours. | Cigan SS et al. | 2022 | British journal of cancer |
| 35760210 | Genetic susceptibility to telomere shortening through the rs2293607 polymorphism is associated with a greater risk of alcohol use disorder. | Llorente H et al. | 2022 | Mechanisms of ageing and development |
| 35847915 | Cumulative Evidence for Relationships Between Multiple Variants in the TERT and CLPTM1L Region and Risk of Cancer and Non-Cancer Disease. | Tian J et al. | 2022 | Frontiers in oncology |
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
Top▲
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.