rs401681, CLPTM1L

N. diseases: 42
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.800 GeneticVariation BEFREE The single-nucleotide polymorphisms (SNP) at 5p15 (rs2736100, adjusted odds ratio [aOR] 1.32, 95% confidence interval [CI] 1.03-1.67, P = 0.025; rs402710, aOR 0.82, 95% CI 0.69-0.98, P = 0.025; rs401681, aOR 0.82, 95% CI 0.69-0.98, P = 0.026) and at 15q25 (rs2036534, aOR 0.75, 95% CI 0.61-0.93, P = 0.01; rs6495309, aOR 0.81, 95% CI 0.65-1.00, P = 0.052) were significantly associated with lung cancer risk. 22404340 2012
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.800 GeneticVariation BEFREE Our findings provide further evidence supporting rs401681 as a genetic variant associated with the risk of lung cancer. 24386361 2013
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.800 GeneticVariation BEFREE Our findings provide further evidence supporting rs401681 as a genetic variant associated with the risk of lung cancer. 24386361 2013
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.800 GeneticVariation BEFREE The rs401681 polymorphism was significantly associated with a decreased risk of lung cancer, bladder cancer, and basal cell carcinoma in Asians and in hospital-based studies. 29254260 2017
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.800 GeneticVariation BEFREE We genotyped rs2736100 (TERT) and rs401681 (CLPTM1L) SNPs in a case-control study with 399 lung cancer cases and 466 controls form Taiyuan, China. 23433592 2013
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.800 GeneticVariation BEFREE The results from our case-control study and meta-analysis provide convincing evidence that rs401681 is significantly associated with lung cancer risk. 23653681 2013
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.800 GeneticVariation BEFREE We examined the clinicopathological and prognostic value of rs401681 variants in lung cancer. 29033187 2017
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.800 GeneticVariation BEFREE In the genetic model analysis, we found rs402710 and rs401681 were associated with decreased lung cancer risk. 25526467 2014
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.800 GeneticVariation BEFREE The rs401681 polymorphism was significantly associated with a decreased risk of lung cancer, bladder cancer, and basal cell carcinoma in Asians and in hospital-based studies. 29254260 2017
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.800 GeneticVariation BEFREE By analyzing 1000 genomes data for East Asian, we identified only one SNP in nearby region, rs402710, in high linkage disequilibrium with rs401681, which was also associated with lung cancer. 29939218 2018
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.800 GeneticVariation BEFREE No association was found between CLPTM1L-rs401681 and lung cancer risk. 24861918 2014
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.800 GeneticVariation BEFREE By analyzing 1000 genomes data for East Asian, we identified only one SNP in nearby region, rs402710, in high linkage disequilibrium with rs401681, which was also associated with lung cancer. 29939218 2018
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
0.740 GeneticVariation BEFREE These findings suggested that rs401681 C allele was a low-penetrance risk allele for the development of cancers of lung, bladder, prostate and basal cell carcinoma, but a potential protective allele for melanoma and pancreatic cancer. 23226346 2012
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
0.740 GeneticVariation BEFREE In individuals with a risk allele at either rs1805007 or rs401681 the median time to BCC</span> was 31 years of age (95% CI: 28-34) compared with 44 years of age (95% CI: 38-53) in wild-type individuals (HR=2.48, 95% CI: 1.47-4.17, P=0.0002). 25159867 2015
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
0.740 GeneticVariation BEFREE Our data suggests that the T allele of rs401681 in CLPTM1L-TERT locus predisposes its carriers to pancreatic cancer, and further research into the function of CLPTM1L-TERT locus and its potential biological mechanism association may be warranted. 24577890 2014
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
0.740 GeneticVariation BEFREE We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere-related genes (TERT, TRF1, TRF2, TNKS2, and POT1) and one SNP (rs401681) in the TERT-CLPTM1L locus which has been identified as a susceptibility locus to skin cancer in the previous GWAS, and the risk of skin cancer in a case-control study of Caucasians nested within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 870 controls. 21116649 2011
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
0.740 GeneticVariation BEFREE These findings suggested that rs401681 C allele was a low-penetrance risk allele for the development of cancers of lung, bladder, prostate and basal cell carcinoma, but a potential protective allele for melanoma and pancreatic cancer. 23226346 2012
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
0.740 GeneticVariation BEFREE This meta-analysis suggests that T allele of CLPTM1L-telomerase reverse transcriptase rs401681 polymorphism is associated with an increased PC risk, especially among Chinese. 25284078 2015
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
0.740 GeneticVariation BEFREE These findings suggested that rs401681 C allele was a low-penetrance risk allele for the development of cancers of lung, bladder, prostate and basal cell carcinoma, but a potential protective allele for melanoma and pancreatic cancer. 23226346 2012
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
0.740 GeneticVariation BEFREE Our data suggests that the T allele of rs401681 in CLPTM1L-TERT locus predisposes its carriers to pancreatic cancer, and further research into the function of CLPTM1L-TERT locus and its potential biological mechanism association may be warranted. 24577890 2014
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
0.740 GeneticVariation BEFREE A small number of common susceptibility loci have been identified for pancreatic cancer, one of which is marked by rs401681 in the TERT-CLPTM1L gene region on chromosome 5p15.33. 25940397 2015
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
0.740 GeneticVariation BEFREE The rs401681 polymorphism was significantly associated with a decreased risk of lung cancer, bladder cancer, and basal cell carcinoma in Asians and in hospital-based studies. 29254260 2017
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
0.740 GeneticVariation BEFREE A small number of common susceptibility loci have been identified for pancreatic cancer, one of which is marked by rs401681 in the TERT-CLPTM1L gene region on chromosome 5p15.33. 25940397 2015
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
0.740 GeneticVariation BEFREE This meta-analysis suggests that T allele of CLPTM1L-telomerase reverse transcriptase rs401681 polymorphism is associated with an increased PC risk, especially among Chinese. 25284078 2015
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.730 GeneticVariation BEFREE We found that the rs401681C/T allele in the TERT-CLPTM1L gene was associated with the risk of non-small cell lung cancer [NSCLC; P = 0.012, odds ratio (OR) = 1.29, 95% confidence interval (95%CI) = 1.09-1.50], but was not associated with the risk of small cell lung cancer (P = 0.571, OR = 1.15, 95%CI = 0.82-1.47). 23359026 2013