rs401681, CLPTM1L

N. diseases: 42
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.710 GeneticVariation GWASCAT A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. 20972438 2010
melanoma
CUI: C0025202
Disease: melanoma
0.860 GeneticVariation BEFREE Also, the SNP rs401681 in the TERT-CLPTM1L locus was replicated for the association with melanoma risk. 21116649 2011
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
Experimental Organism Basal Cell Carcinoma
0.030 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
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
0.030 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
Malignant neoplasm of skin
CUI: C0007114
Disease: Malignant neoplasm of skin
0.010 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
Prostate specific antigen measurement
0.800 GeneticVariation GWASCAT Genetic correction of PSA values using sequence variants associated with PSA levels. 21160077 2010
Prostate specific antigen measurement
0.800 GeneticVariation GWASDB Genetic correction of PSA values using sequence variants associated with PSA levels. 21160077 2010
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE The lack of associations between SNP rs401681 and a wide range of age-related phenotypes investigated in this large multicohort study suggests that while this SNP may be associated with cancer, it is not an important contributor to other markers of aging. 21332924 2011
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.090 GeneticVariation BEFREE The lack of associations between SNP rs401681 and a wide range of age-related phenotypes investigated in this large multicohort study suggests that while this SNP may be associated with cancer, it is not an important contributor to other markers of aging. 21332924 2011
melanoma
CUI: C0025202
Disease: melanoma
0.860 GeneticVariation GWASDB Genome-wide association study identifies three new melanoma susceptibility loci. 21983787 2011
melanoma
CUI: C0025202
Disease: melanoma
0.860 GeneticVariation GWASCAT Genome-wide association study identifies three new melanoma susceptibility loci. 21983787 2011
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma 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 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
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.100 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 Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Single-nucleotide polymorphism of CLPTM1L-rs401681(C > T) at the 5p15.33 locus is significantly associated with cancer risk as reported in genome-wide association studies, but the reported studies for non-melanoma skin cancer (NMSC) are inconclusive. 22893025 2013
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.090 GeneticVariation BEFREE Single-nucleotide polymorphism of CLPTM1L-rs401681(C > T) at the 5p15.33 locus is significantly associated with cancer risk as reported in genome-wide association studies, but the reported studies for non-melanoma skin cancer (NMSC) are inconclusive. 22893025 2013
Skin carcinoma
CUI: C0699893
Disease: Skin carcinoma
0.010 GeneticVariation BEFREE Single-nucleotide polymorphism of CLPTM1L-rs401681(C > T) at the 5p15.33 locus is significantly associated with cancer risk as reported in genome-wide association studies, but the reported studies for non-melanoma skin cancer (NMSC) are inconclusive. 22893025 2013
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.800 GeneticVariation GWASDB Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls. 22899653 2012
melanoma
CUI: C0025202
Disease: melanoma
0.860 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 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 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 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 Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE We assessed the strength of the association between rs401681 and overall cancers risk and performed subgroup analyses by cancer type, ethnicity, source of control, sample size and expected power. 23226346 2012
Experimental Organism Basal Cell Carcinoma
0.030 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