rs10069690
| Orientation | plus |
| Stabilized | plus |
| Make rs10069690(C;C) |
| Make rs10069690(C;T) |
| Make rs10069690(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 1279675 |
| Gene | TERT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10069690 |
| dbSNP (classic) | rs10069690 |
| ClinGen | rs10069690 |
| ebi | rs10069690 |
| HLI | rs10069690 |
| Exac | rs10069690 |
| Gnomad | rs10069690 |
| Varsome | rs10069690 |
| LitVar | rs10069690 |
| Map | rs10069690 |
| PheGenI | rs10069690 |
| Biobank | rs10069690 |
| 1000 genomes | rs10069690 |
| hgdp | rs10069690 |
| ensembl | rs10069690 |
| geneview | rs10069690 |
| scholar | rs10069690 |
| rs10069690 | |
| pharmgkb | rs10069690 |
| gwascentral | rs10069690 |
| openSNP | rs10069690 |
| 23andMe | rs10069690 |
| SNPshot | rs10069690 |
| SNPdbe | rs10069690 |
| MSV3d | rs10069690 |
| GWAS Ctlg | rs10069690 |
| GMAF | 0.3182 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 22037553 ]
|
| Trait | |
| Title | A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. |
| Risk Allele | T |
| P-val | 1E-10 |
| Odds Ratio | 1.1800 None |
[PMID 21269955] [hTERT single nucleotide polymorphism is associated with increased risks of hepatocellular carcinoma and tumor metastasis].
[PMID 22267287] Telomere length and genetic variation in telomere maintenance genes in relation to ovarian cancer risk.
[PMID 23136140] Genetic susceptibility loci for subtypes of breast cancer in an African American population
[PMID 23535731] Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
| GWAS snp | |
|---|---|
| PMID | [PMID 23535733]
|
| Trait | Breast cancer |
| Title | Genome-wide association studies identify four ER negative-specific breast cancer risk loci. |
| Risk Allele | T |
| P-val | 5E-12 |
| Odds Ratio | 1.15 [1.11-1.20] |
| GWAS snp | |
|---|---|
| PMID | [PMID 23535729]
|
| Trait | Breast cancer |
| Title | Large-scale genotyping identifies 41 new loci associated with breast cancer risk. |
| Risk Allele | T |
| P-val | 7E-9 |
| Odds Ratio | 1.06 [1.04-1.09] |
[PMID 24292274] A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia
[PMID 23001564] Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.
[PMID 23535824] Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression.
[PMID 23629941] Telomere length, telomere-related genes, and breast cancer risk: the breast cancer health disparities study.
[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
| GWAS snp | |
|---|---|
| PMID | [PMID 24325915]
|
| Trait | Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) |
| Title | Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer. |
| Risk Allele | A |
| P-val | 1E-7 |
| Odds Ratio | 1.24 [1.14-1.34] |
[PMID 25738283] Association of genetic polymorphisms in the telomerase reverse transcriptase gene with prostate cancer aggressiveness
[PMID 26053551] A Common Cancer Risk-Associated Allele in the hTERT Locus Encodes a Dominant Negative Inhibitor of Telomerase
[PMID 25254308] Polymorphisms in the TERT gene are associated with lung cancer risk in the Chinese Han population
[PMID 26143636] TERT promoter mutations and polymorphisms as prognostic factors in primary glioblastoma
[PMID 26294352] Association of human telomerase reverse transcriptase gene polymorphisms, serum levels, and telomere length with renal cell carcinoma risk and pathology
[PMID 26320593] A single-nucleotide polymorphism of CCL21 rs951005 T>C is associated with susceptibility of polymyositis and such patients with interstitial lung disease in a Chinese Han population.
[PMID 27594435] Genome-wide Association Studies in Women of African Ancestry Identified 3q26.21 as a Novel Susceptibility Locus for Estrogen Receptor Negative Breast Cancer.
[PMID 27825130] Genetic variants in TERT are associated with risk of gastric cancer in a Chinese Han population.
[PMID 28060765] Genetic polymorphisms in TERT are associated with increased risk of esophageal cancer.
[PMID 28700349] Association of TERT polymorphisms and risk of coronary heart disease in a Chinese Han population.
[PMID 28757654] Predicting Triple-Negative Breast Cancer Subtype Using Multiple Single Nucleotide Polymorphisms for Breast Cancer Risk and Several Variable Selection Methods.
[PMID 28978050] Association of TERT polymorphisms and risk of coronary heart disease in a Chinese Han population.
[PMID 29100352] Genetic variations in TERC and TERT genes are associated with renal cell carcinoma risk in a Chinese Han population.
[PMID 29299136] Genetic variations in TERC and TERT genes are associated with lung cancer risk in a Chinese Han population.
[PMID 31270965] TERT gene polymorphisms are associated with chronic obstructive pulmonary disease risk in the Chinese Li population.
[PMID 32577134] Single nucleotide polymorphisms in telomere length-related genes are associated with hepatocellular carcinoma risk in the Chinese Han population.
