openSNP | rs2736100

Links to SNPedia

Title	Summary
rs2736100 G/G	1.6x higher risk for glioma development
rs2736100 T/T	higher risk of interstitial lung disease, and testicular cancer, 2.1x risk of pulmonary fibrosis
rs2736100 G/T	1.3x higher risk for glioma development, 2.1x risk of pulmonary fibrosis

Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).

Publications on this SNP on the Public Library of Science:

First Author	Title	Year of Publication	# of readers
Hamish Cunningham	Getting More Out of Biomedical Documents with GATE's Full Lifecycle Open Source Text Analytics	2013	30093
Chao Agnes Hsiung	The 5p15.33 Locus Is Associated with Risk of Lung Adenocarcinoma in Never-Smoking Females in Asia	2010	9174
Dong Li	Association of GWAS-Identified Lung Cancer Susceptibility Loci with Survival Length in Patients with Small-Cell Lung Cancer Treated with Platinum-Based Chemotherapy	2014	3330
Ramon Andrade de Mello	The Impact of Polymorphic Variations in the 5p15, 6p12, 6p21 and 15q25 Loci on the Risk and Prognosis of Portuguese Patients with Non-Small Cell Lung Cancer	2013	2189
Mattias Johansson	Using Prior Information from the Medical Literature in GWAS of Oral Cancer Identifies Novel Susceptibility Variant on Chromosome 4 - the AdAPT Method	2012	4317
Carl Wibom	EGFR Gene Variants Are Associated with Specific Somatic Aberrations in Glioma	2012	3240
Ruyang Zhang	Pathway Analysis for Genome-Wide Association Study of Lung Cancer in Han Chinese Population	2013	3336
Sunil Lagah	RHPS4 G-Quadruplex Ligand Induces Anti-Proliferative Effects in Brain Tumor Cells	2014	2582
Qing Lan	Longer Telomere Length in Peripheral White Blood Cells Is Associated with Risk of Lung Cancer and the rs2736100 (CLPTM1L-TERT) Polymorphism in a Prospective Cohort Study among Women in China	2013	3398
Man Jiang	Genetic Variant rs401681 at 5p15.33 Modifies Susceptibility to Lung Cancer but Not Esophageal Squamous Cell Carcinoma	2013	1578
Sharon E. Johnatty	Evaluation of Candidate Stromal Epithelial Cross-Talk Genes Identifies Association between Risk of Serous Ovarian Cancer and TERT, a Cancer Susceptibility “Hot-Spot”	2010	9459
Yasuko Okano	SNP (–617C>A) in ARE-Like Loci of the NRF2 Gene: A New Biomarker for Prognosis of Lung Adenocarcinoma in Japanese Non-Smoking Women	2013	5048
Ewa Jaworowska	Smoking Related Cancers and Loci at Chromosomes 15q25, 5p15, 6p22.1 and 6p21.33 in the Polish Population	2011	3175
Tung-Sung Tseng	Role of Nicotine Dependence on the Relationship between Variants in the Nicotinic Receptor Genes and Risk of Lung Adenocarcinoma	2014	3499
Lin Zhao	The Association between ATM IVS 22-77 T>C and Cancer Risk: A Meta-Analysis	2012	2796
Jonathan Beesley	Functional Polymorphisms in the TERT Promoter Are Associated with Risk of Serous Epithelial Ovarian and Breast Cancers	2011	4567
Lei Feng	The GG Genotype of Telomerase Reverse Transcriptase at Genetic Locus rs2736100 Is Associated with Human Atherosclerosis Risk in the Han Chinese Population	2014	1081
Jing Dong	Genome-Wide Association Study Identifies a Novel Susceptibility Locus at 12q23.1 for Lung Squamous Cell Carcinoma in Han Chinese	2013	8315
Anna Abulí	The MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorectal Cancer: Genetic Association Study in 18,723 Individuals	2014	1543
Yun Liu	A Genome-Wide Association Study Identifies a Locus on TERT for Mean Telomere Length in Han Chinese	2014	2946
Jun Yin	TERT-CLPTM1L Rs401681 C>T Polymorphism Was Associated with a Decreased Risk of Esophageal Cancer in a Chinese Population	2014	1632
Haijian Wu	Association between the Telomerase Reverse Transcriptase (TERT) rs2736098 Polymorphism and Cancer Risk: Evidence from a Case-Control Study of Non-Small-Cell Lung Cancer and a Meta-Analysis	2013	2559
Jin-Lin Cao	Association between the TERT Genetic Polymorphism rs2853676 and Cancer Risk: Meta-Analysis of 76 108 Cases and 134 215 Controls	2015	2089
Xueying Zhao	Association of TERT Polymorphisms with Clinical Outcome of Non-Small Cell Lung Cancer Patients	2015	1473
Chunli Zhang	The Association between Telomere Length and Cancer Prognosis: Evidence from a Meta-Analysis	2015	1583
Anagha Killedar	A Common Cancer Risk-Associated Allele in the hTERT Locus Encodes a Dominant Negative Inhibitor of Telomerase	2015	4646
Anna Abulí	Genetic Variants Associated with Colorectal Adenoma Susceptibility	2016	1523
Edward J. Maile	Nervous System and Intracranial Tumour Incidence by Ethnicity in England, 2001–2007: A Descriptive Epidemiological Study	2016	1451

Publications on this SNP on Mendeley

First Author	Title	Pub. Year	# of Readers	DOI
B Kinnersley	The TERT variant rs2736100 is associated with colorectal cancer risk.	2012	6	10.1038/bjc.2012.329
Beatrice S Melin	hTERT cancer risk genotypes are associated with telomere length.	2012	6	10.1002/gepi.21630
Yanhong Liu	Genetic advances in glioma: Susceptibility genes and networks	2010	26	10.1016/j.gde.2010.02.001
T Mushiroda	A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis	2008	5	10.1136/jmg.2008.057356
Peng Zou	The TERT rs2736100 Polymorphism and Cancer Risk: A Meta-analysis Based on 25 Case-Control Studies.	2012	5	10.1186/1471-2407-12-7
K M Walsh	Genetic variants in telomerase-related genes are associated with an older age at diagnosis in glioma patients: evidence for distinct pathways of gliomagenesis	2013	8	10.1093/neuonc/not051
S Shete	Genome-wide association study identifies five susceptibility loci for glioma	2009	5	10.1038/ng.407
Marc Sanson	Chromosome 7p11.2 (EGFR) variation influences glioma risk.	2011	19	10.1093/hmg/ddr192
Matthias Simon	Genetic risk profiles identify different molecular etiologies for glioma.	2010	12	10.1158/1078-0432.CCR-10-1502
Yufei Wang	Role of 5p15.33 (TERT-CLPTM1L), 6p21.33 and 15q25.1 (CHRNA5-CHRNA3) variation and lung cancer risk in never-smokers.	2010	10	-
Maria Teresa Landi	A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma	2009	3	10.1016/j.ajhg.2009.09.012.
Maria Teresa Landi	A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma	2009	3	10.1016/j.ajhg.2009.09.012
Maria Teresa Landi	A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma	2009	31	10.1016/j.ajhg.2009.09.012
Darren R Brenner	Hierarchical modeling identifies novel lung cancer susceptibility variants in inflammation pathways among 10,140 cases and 11,012 controls.	2013	4	10.1007/s00439-013-1270-y
Maria Teresa Landi	A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.	2009	28	10.1016/j.ajhg.2009.09.012
Guangfu Jin	Common genetic variants on 5p15.33 contribute to risk of lung adenocarcinoma in a Chinese population.	2009	3	10.1093/carcin/bgp090
Kyle M Walsh	Genetic variants in telomerase-related genes are associated with an older age at diagnosis in glioma patients: evidence for distinct pathways of gliomagenesis.	2013	6	10.1093/neuonc/not051
Yanhong Liu	Genetic advances in glioma: susceptibility genes and networks.	2010	24	10.1016/j.gde.2010.02.001
Sanjay Shete	Genome-wide association study identifies five susceptibility loci for glioma.	2009	3	10.1038/ng.407
Beatrice Melin	Known glioma risk loci are associated with glioma with a family history of brain tumours -- a case-control gene association study.	2013	3	10.1002/ijc.27922
Kathryn L Terry	Telomere length and genetic variation in telomere maintenance genes in relation to ovarian cancer risk	2012	4	10.1158/1055-9965.EPI-11-0867
T M Kollmeyer	Germline polymorphisms in (or near) CDKN2A/B, RTEL1, TERT, and CCDC26 are differentially associated with glioma grade and morphologic subtype	2010	2
L Mirabello	Worldwide genetic structure in 37 genes important in telomere biology.	2012	9	10.1038/hdy.2011.55
Chao Agnes Hsiung	The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia.	2010	36	10.1371/journal.pgen.1001051
Darren R Brenner	Hierarchical modeling identifies novel lung cancer susceptibility variants in inflammation pathways among 10,140 cases and 11,012 controls.	2013	1	10.1007/s00439-013-1270-y
M T Landi	A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma	2009	6	10.1016/j.ajhg.2009.09.012
S Shete	Genome-wide association study identifies five susceptibility loci for glioma	2009	4	ng.407 [pii]\r10.1038/ng.407
Mushiroda T.	A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis	2008	1
Lifeng Yan	Genetic variants in telomerase reverse transcriptase (TERT) and telomerase-associated protein 1 (TEP1) and the risk of male infertility	2014	2	10.1016/j.gene.2013.11.008
A L Di Stefano	Association between glioma susceptibility loci and tumour pathology defines specific molecular etiologies	2013	8	10.1093/neuonc/nos284
Yanhong Liu	Genetic advances in glioma: susceptibility genes and networks.	2010	22	-
S Shete	Genome-wide association study identifies five susceptibility loci for glioma	2009	2	ng.407 [pii]\r10.1038/ng.407
Beatrice Melin	Known glioma risk loci are associated with glioma with a family history of brain tumours - a case-control gene association study.	2012	1	-
Z Hu	A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese	2011	3	10.1038/ng.875
James D McKay	Lung cancer susceptibility locus at 5p15.33.	2008	35	-
Matthias Simon	Genetic risk profiles identify different molecular etiologies for glioma.	2010	5	-
S Shete	Genome-wide association study identifies five susceptibility loci for glioma	2009	3
L Qi	Worldwide genetic structure in 37 genes important in telomere biology	2012	11	10.1038/hdy.2011.55
Julie Kim	Association between hTERT rs2736100 polymorphism and sensitivity to anti-cancer agents.	2013	3	10.3389/fgene.2013.00162
Kathleen M Egan	Cancer susceptibility variants and the risk of adult glioma in a US case-control study.	2011	6	10.1007/s11060-011-0527-3
Clare Turnbull	Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.	2010	37	10.1038/ng.607
T Mushiroda	A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis.	2008	13	10.1136/jmg.2008.057356
Sumin Wang	Common genetic variants in TERT contribute to risk of cervical cancer in a Chinese population	2012	4	10.1002/mc.21872
Anna Luisa Di Stefano	Association between glioma susceptibility loci and tumour pathology defines specific molecular etiologies.	2012	3	10.1093/neuonc/nos284
Ajay A. Myneni	Genetic polymorphisms of TERT and CLPTM1L and risk of lung cancer-A case-control study in a Chinese population	2013	3	10.1016/j.lungcan.2013.01.021
Hongyan Chen	Association of Sequence Variants on Chromosomes 20, 11, and 5 (20q13.33, 11q23.3, and 5p15.33) With Glioma Susceptibility in a Chinese Population.	2011	9	10.1093/aje/kwq457
Maria Teresa Landi	A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma	2009	39	10.1016/j.ajhg.2009.09.012
Yunfeng Yuan	Association between TERT rs2736100 polymorphism and lung cancer susceptibility: evidence from 22 case-control studies.	2014	2	10.1007/s13277-013-1583-4
Daiki Miki	Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations.	2010	0
Sanjay Shete	Genome-wide association study identifies five susceptibility loci for glioma.	2009	46	-
Chen-Yue Ding	[The relationship between gene polymorphism of telomerase reverse transcriptase and susceptibility to hepatocellular carcinoma].	2011	2
Maria Teresa Landi	A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma.	2009	1	10.1016/j.ajhg.2009.09.012
Sarah J. Fleming	Genome-wide association study of glioma and meta-analysis	2012	11	10.1007/s00439-012-1212-0
Sanjay Shete	Genome-wide association study identifies five susceptibility loci for glioma.	2009	2	10.1038/ng.407
B Kinnersley	The TERT variant rs2736100 is associated with colorectal cancer risk.	2012	5	10.1038/bjc.2012.329
Minouk J Schoemaker	Interaction between 5 genetic variants and allergy in glioma risk.	2010	8	10.1093/aje/kwq075
Zhibin Hu	A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese.	2011	27	10.1038/ng.875
Peter A Kanetsky	A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility.	2011	5	10.1093/hmg/ddr207
Clare Turnbull	Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.	2010	19	-
Ailin Lu	The TERT rs2736100 Polymorphism and Cancer Risk: A Meta-analysis Based on 25 Case-Control Studies	2012	9	10.1186/1471-2407-12-7
Darren R Brenner	Hierarchical modeling identifies novel lung cancer susceptibility variants in inflammation pathways among 10,140 cases and 11,012 controls.	2013	3	10.1007/s00439-013-1270-y
Ajay A Myneni	Genetic polymorphisms of TERT and CLPTM1L and risk of lung cancer—A case–control study in a Chinese population	2013	1	10.1016/j.lungcan.2013.01.021
Yanhong Liu	New insights into susceptibility to glioma.	2010	18	10.1001/archneurol.2010.4
Ping Yang	A rigorous and comprehensive validation: common genetic variations and lung cancer.	2010	4	-
T Mushiroda	A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis	2008	1	10.1136/jmg.2008.057356
Beatrice Melin	Genetic causes of glioma	2011	12	10.1097/CCO.0b013e32834a6f61
Yufei Wang	Role of 5p15.33 (TERT-CLPTM1L), 6p21.33 and 15q25.1 (CHRNA5-CHRNA3) variation and lung cancer risk in never-smokers.	2010	16	10.1093/carcin/bgp287
Rongrong Wei	Association between MUC5B and TERT polymorphisms and different interstitial lung disease phenotypes	2014	3	10.1016/j.trsl.2013.12.006
S Shete	Genome-wide association study identifies five susceptibility loci for glioma	2009	1
Takashi Kohno	Individuals susceptible to lung adenocarcinoma defined by combined HLA-DQA1 and TERT genotypes.	2010	2	-
Philipp Hofer	Association of genetic variants of human telomerase with colorectal polyps and colorectal cancer risk.	2012	2	10.1002/mc.21911
Julie Kim	Association between hTERT rs2736100 polymorphism and sensitivity to anti-cancer agents.	2013	1	10.3389/fgene.2013.00162
Hongyan Chen	Association of sequence variants on chromosomes 20, 11, and 5 (20q13.33, 11q23.3, and 5p15.33) with glioma susceptibility in a Chinese population.	2011	10	10.1093/aje/kwq457
Sanjay Shete	Genome-wide association study identifies five susceptibility loci for glioma.	2009	53	10.1038/ng.407
Chao Agnes Hsiung	The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia	2010	39	10.1371/journal.pgen.1001051
S Shete	Genome-wide association study identifies five susceptibility loci for glioma	2009	3	10.1038/ng.407
Preetha Rajaraman	Genome-wide association study of glioma and meta-analysis.	2012	4	10.1007/s00439-012-1212-0
Anna Luisa Di Stefano	Association between glioma susceptibility loci and tumour pathology defines specific molecular etiologies.	2012	6	10.1093/neuonc/nos284
Chao Agnes Hsiung	The 5p15.33 Locus Is Associated with Risk of Lung Adenocarcinoma in Never-Smoking Females in Asia	2010	28	10.1371/journal.pgen.1001051
Kyle M Walsh	Genetic variants in telomerase-related genes are associated with an older age at diagnosis in glioma patients: evidence for distinct pathways of gliomagenesis.	2013	4	10.1093/neuonc/not051
Zhibin Hu	A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese.	2011	25	10.1038/ng.875
T Mushiroda	A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis.	2008	12	10.1136/jmg.2008.057356
A Di stefano	The associations between glioma susceptibility loci and pathological parameters define specific molecular etiologies	2012	1
M T Landi	A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma	2009	1	DOI 10.1016/j.ajhg.2009.09.012
B Kinnersley	The TERT variant rs2736100 is associated with colorectal cancer risk.	2012	7	10.1038/bjc.2012.329

Evidence compiled by the Personal Genome Project

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Publications listed by Genome.gov

First Author	Title	Journal	Publication Date	Trait	p-value	Confidence Interval
Turnbull C	Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.	Nat Genet	06/13/2010	Testicular germ cell cancer	8.0e-15	[1.18-1.50]
Rajaraman P	Genome-wide association study of glioma and meta-analysis.	Hum Genet	08/11/2012	Glioma	4.0e-09	[1.19-1.41]
Shete S	Genome-wide association study identifies five susceptibility loci for glioma.	Nat Genet	07/05/2009	Glioma	2.0e-17	[1.19-1.37]
Miki D	Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations.	Nat Genet	09/26/2010	Lung adenocarcinoma	3.0e-11	[1.19-1.37]
Hu Z	A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese.	Nat Genet	07/03/2011	Lung cancer	1.0e-27	[1.22-1.33]
Hsiung CA	The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia.	PLoS Genet	08/05/2010	Lung adenocarcinoma	2.0e-22	[1.35-1.57]
Landi MT	A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.	Am J Hum Genet	10/15/2009	Lung adenocarcinoma	2.0e-10	[1.08-1.16]
Yang TH	Combinations of newly confirmed Glioma-Associated loci link regions on chromosomes 1 and 9 to increased disease risk.	BMC Med Genomics	08/09/2011	Glioma	7.0e-09	NR
Sanson M	Chromosome 7p11.2 (EGFR) variation influences glioma risk.	Hum Mol Genet	04/29/2011	Glioma	1.0e-14	[NR]

Name	rs2736100
Chromosome	5
Position	1286401
Weight of evidence	174

SNP rs2736100

Basic Information

Genotype Frequency

Allele Frequency

Additional Information

Links to SNPedia

Publications on this SNP on the Public Library of Science:

Publications on this SNP on Mendeley

Evidence compiled by the Personal Genome Project

Publications listed by Genome.gov

Users who share this SNP:

Genome Browser

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