rs401681, CLPTM1L

N. diseases: 42
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
melanoma
CUI: C0025202
Disease: melanoma
0.860 GeneticVariation BEFREE In a multivariable model that included only the most statistically significant findings from univariable modeling and adjusted for pigmentary phenotype, back nevi, and baseline features, we found TERT/CLPTM1L rs401681 (P = 0.004), TYRP1 rs2733832 (P = 0.006), MTAP rs1335510 (P = 0.0005), TYR rs10830253 (P = 0.003), and MX2 rs45430 (P = 0.008) to be significantly associated with multiple primary melanoma, while NCOA6 rs4911442 approached significance (P = 0.06). 25837821 2015
melanoma
CUI: C0025202
Disease: melanoma
0.860 GeneticVariation BEFREE In the melanoma dataset, two pancreatic cancer susceptibility variants were associated: NR5A2 (rs12029406; OR, 1.39; 95% CI, 1.01-1.92; P = 0.04) and CLPTM1L-TERT (rs401681; OR, 1.16; 95% CI, 1.01-1.34; P = 0.04). 24642353 2014
melanoma
CUI: C0025202
Disease: melanoma
0.860 GeneticVariation BEFREE We also obtained significant results when we tested the association between rs401681 variant (TERT-CLPTM1L locus) with melanoma risk (Odds ratio, OR; 95% confidence interval, CI=1.24 (1.08-1.43); p-value, 3×10(-3)). 25457634 2014
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
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
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
melanoma
CUI: C0025202
Disease: melanoma
0.860 GeneticVariation BEFREE We evaluated the association between single nucleotide polymorphism (SNP) rs401681 (C > T) and mean telomere length, using quantitative real-time PCR, in blood-extracted DNA collected from 11,314 cancer-free participants from the Sisters in Breast Screening study, the Melanoma and Pigmented Lesions Evaluative Study melanoma family study, and the SEARCH Breast, Colorectal, Melanoma studies. 20570912 2010
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.810 GeneticVariation GWASCAT Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations. 31326317 2019
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.810 GeneticVariation BEFREE Gene variations rs2736100 and rs2853676 in TERT and rs401681 and rs31489 in CLPTM1L had significant direct associations on lung adenocarcinoma without indirect effects through nicotine dependence. 25233467 2014
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.810 GeneticVariation GWASDB A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. 19836008 2009
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 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
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.800 GeneticVariation BEFREE In conclusion, in males, the TERT rs2736098 and CLPTM1L rs401681 T alleles are the susceptibility factors for developing lung cancer. 28789383 2017
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.800 GeneticVariation BEFREE As a result, 15 SNPs on or near 12 genes and one miRNA with strong evidence of association with lung cancer risk were identified, including TERT (rs2736098), CHRNA3 (rs1051730), AGPHD1 (rs8034191), CLPTM1L (rs401681 and rs402710), BAT3 (rs3117582), TRNAA (rs4324798), ERCC2 (Lys751Gln), miR-146a2 (rs2910164), CYP1B1 (Arg48Gly), GSTM1 (null/present), SOD2 (C47T), IL-10 (-592C/A and -819C/T), and TP53 (intron 6). 29110844 2017
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.800 GeneticVariation BEFREE As a result, 15 SNPs on or near 12 genes and one miRNA with strong evidence of association with lung cancer risk were identified, including TERT (rs2736098), CHRNA3 (rs1051730), AGPHD1 (rs8034191), CLPTM1L (rs401681 and rs402710), BAT3 (rs3117582), TRNAA (rs4324798), ERCC2 (Lys751Gln), miR-146a2 (rs2910164), CYP1B1 (Arg48Gly), GSTM1 (null/present), SOD2 (C47T), IL-10 (-592C/A and -819C/T), and TP53 (intron 6). 29110844 2017
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.800 GeneticVariation BEFREE In conclusion, in males, the TERT rs2736098 and CLPTM1L rs401681 T alleles are the susceptibility factors for developing lung cancer. 28789383 2017
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.800 GeneticVariation BEFREE We examined the clinicopathological and prognostic value of rs401681 variants in lung cancer. 29033187 2017
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 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 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 After adjusting for known risk loci, rs2736100 and rs401681, we identified a new, independent lung cancer susceptibility variant in LPCAT1: rs139852726 (OR = 0.46, P = 4.73×10(-9)), and three new adenocarcinoma risk variants in TERT: rs61748181 (OR = 0.53, P = 2.64×10(-6)), rs112290073 (OR = 1.85, P = 1.27×10(-5)), rs138895564 (OR = 2.16, P = 2.06×10(-5); among young cases, OR = 3.77, P = 8.41×10(-4)). 26590902 2016
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.800 GeneticVariation BEFREE After adjusting for known risk loci, rs2736100 and rs401681, we identified a new, independent lung cancer susceptibility variant in LPCAT1: rs139852726 (OR = 0.46, P = 4.73×10(-9)), and three new adenocarcinoma risk variants in TERT: rs61748181 (OR = 0.53, P = 2.64×10(-6)), rs112290073 (OR = 1.85, P = 1.27×10(-5)), rs138895564 (OR = 2.16, P = 2.06×10(-5); among young cases, OR = 3.77, P = 8.41×10(-4)). 26590902 2016
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm 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
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.800 GeneticVariation BEFREE In conclusion, our study indicated that the CLPTM1L - rs401681 (G>A) polymorphism was significantly associated with decreased lung cancer risk, especially among European populations. 24634236 2014