Have questions? Visit https://www.reddit.com/r/SNPedia

rs2736098

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) slightly increased risk for several types of cancers
(A;G) slightly increased risk for several types of cancers
(G;G) 0 normal
ReferenceGRCh38 38.1/142
Chromosome5
Position1293971
GeneTERT
is asnp
is mentioned by
dbSNPrs2736098
ebirs2736098
HLIrs2736098
Exacrs2736098
Varsomers2736098
Maprs2736098
PheGenIrs2736098
hapmaprs2736098
1000 genomesrs2736098
hgdprs2736098
ensemblrs2736098
gopubmedrs2736098
geneviewrs2736098
scholarrs2736098
googlers2736098
pharmgkbrs2736098
gwascentralrs2736098
openSNPrs2736098
23andMers2736098
23andMe allrs2736098
SNP Nexus

SNPshotrs2736098
SNPdbers2736098
MSV3drs2736098
GWAS Ctlgrs2736098
GMAF0.2126
Max Magnitude0
? (A;A) (A;G) (G;G) 28

A 2014 study "Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer" of 7,683 European cases and 14,397 controls found the minor allele rs2736098(A) in TERT (telomerase reverse transcriptase) conferring a protective effect of statistically genome-wide significance (per-allele odds ratio (OR) = 0.80, 95% confidence interval (CI) 0.76-0.85, P = 9.8E-14) against Pancreatic cancer.

For example [PMID 23244087] indicates the A allele might be risk-factor for Asians but protective for Europeans.

[PMID 19151717OA-icon.png] 23andMe blog rs2736098 and rs401681 linked to many cancers

OMIM605462
DescBASAL CELL CARCINOMA, MULTIPLE
Variant
Relatedalso


[PMID 19773453] Polymorphisms in telomere maintenance genes and risk of lung cancer

OMIM613059
Desc
Variant
Relatedalso
[PMID 21160077OA-icon.png] Genetic correction of PSA values using sequence variants associated with PSA levels


[PMID 21350045] Association of sequence variants on chromosomes 20, 11, and 5 (20q13.33, 11q23.3, and 5p15.33) with glioma susceptibility in a Chinese population


[PMID 21820706OA-icon.png] Prostate Cancer Risk Alleles and Their Associations With Other Malignancies


[PMID 22041560] [The relationship between gene polymorphism of telomerase reverse transcriptase and susceptibility to hepatocellular carcinoma]


[PMID 22495810] Association of genetic variants of human telomerase with colorectal polyps and colorectal cancer risk


[PMID 17267408OA-icon.png] Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.


[PMID 18978790OA-icon.png] Lung cancer susceptibility locus at 5p15.33.


[PMID 19774073OA-icon.png] Genetic epidemiology of glioblastoma multiforme: confirmatory and new findings from analyses of human leukocyte antigen alleles and motifs.


[PMID 20802237OA-icon.png] Genetic variations in TERT-CLPTM1L genes and risk of squamous cell carcinoma of the head and neck.


[PMID 21081471OA-icon.png] Genetic variations on chromosomes 5p15 and 15q25 and bladder cancer risk: findings from the Los Angeles-Shanghai bladder case-control study.


[PMID 22136229OA-icon.png] Genetic variation in TERT and TERC and human leukocyte telomere length and longevity: a cross-sectional and longitudinal analysis.


[PMID 22228261] Common genetic variants in TERT contribute to risk of cervical cancer in a Chinese population.


ClinVar
Risk rs2736098(A;A)
Alt rs2736098(A;A)
Reference rs2736098(G;G)
Significance Non-pathogenic
Disease Dyskeratosis congenita autosomal dominant Aplastic anemia not specified
Variation info
Gene TERT
CLNDBN Dyskeratosis congenita autosomal dominant Aplastic anemia not specified
Reversed 1
HGVS NC_000005.9:g.1294086C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032400.1, RCV000144244.1, RCV000151999.1,



[PMID 22994782] TERT rs2736098 Polymorphism and Cancer Risk: Results of a Meta-analysis


[PMID 23244087] Association of TERT rs2736098 Polymorphism with Cancer Risk: a Meta-analysis


[PMID 23392802] hTERT rs2736098 genetic variants and susceptibility of hepatocellular carcinoma in the Chinese population: a case-control study


[PMID 23738012OA-icon.png] Genetic Variations in TERT-CLPTM1L Genes and Risk of Lung Cancer in Chinese Women Nonsmokers


[PMID 23937305OA-icon.png] Validation of association of genetic variants at 10q with prostate-specific antigen (PSA) levels in men at high risk for prostate cancer


[PMID 24171766OA-icon.png] Common low-penetrance risk variants associated with breast cancer in Polish women


[PMID 24260099OA-icon.png] 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


[PMID 23085811] Tobacco consumption and genetic susceptibility to nasopharyngeal carcinoma (NPC) in Thailand.


[PMID 23159463] Genetic sequence variants are associated with severity of lower urinary tract symptoms and prostate cancer susceptibility.


[PMID 23246478OA-icon.png] Personalized prostate specific antigen testing using genetic variants may reduce unnecessary prostate biopsies.


[PMID 23535824OA-icon.png] Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression.


[PMID 24761905] Genetic Variations in TERT-CLPTM1L Genes and Risk of Lung Cancer in a Chinese Population


[PMID 24861918] Genetic polymorphisms of TERT and CLPTM1L and risk of lung cancer: a case-control study in northeast Chinese male population


[PMID 25007268OA-icon.png] TERT-CLPTM1L Rs401681 C>T Polymorphism Was Associated with a Decreased Risk of Esophageal Cancer in a Chinese Population


[PMID 25027329] Imputation and subset based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33


[PMID 25218484] Replicative study of GWAS TP63C/T, TERTC/T, and SLC14A1C/T with susceptibility to bladder cancer in North Indians


[PMID 25491902OA-icon.png] Association between hTERT polymorphisms and the risk of breast cancer in a sample of Southeast Iranian population


[PMID 25086665OA-icon.png] Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer


[PMID 25254308] Polymorphisms in the TERT gene are associated with lung cancer risk in the Chinese Han population


[PMID 26294352] Association of human telomerase reverse transcriptase gene polymorphisms, serum levels, and telomere length with renal cell carcinoma risk and pathology


[PMID 26372813] Genetic variations in the TERT and CLPTM1L gene region and gastrointestinal stromal tumors risk


[PMID 26491349OA-icon.png] Increased risk of developing lung cancer in Asian patients carrying the TERT rs2736098 G>A polymorphism: evidence from 3,354 cases and 3,518 controls


[PMID 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.