rs401681, CLPTM1L

N. diseases: 42
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.040 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
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.040 GeneticVariation BEFREE Additionally, in a subgroup analysis by histology type, the CLPTM1L rs401681 polymorphism was found to significantly decrease the risks of both adenocarcinoma and squamous cell carcinoma of the lung in all genetic models. 24634236 2014
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.040 GeneticVariation BEFREE In addition, we find both rs402710 and rs401681 conferred significantly greater risks for adenocarcinoma and squamous cell carcinoma when stratified by histological type of tumors. 24907075 2014
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.040 GeneticVariation BEFREE Stratification analysis by histology type indicated that rs401681 T genotypes were associated with a significantly reduced risk of both adenocarcinoma and squamous cell carcinoma. 24386361 2013
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
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
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.010 GeneticVariation BEFREE Among these SNPs, three were significantly associated with PDAC risk after Bonferroni correction (P < 2.5E-03) including rs7779540 (at 7q36.2, P = 3.89E-06, OR = 2.59, 95%CI: 1.73-3.87), rs10919791 (at 1q32.1, P = 6.07E-05, OR = 1.52, 95%CI: 1.24-1.86) and rs401681 (at 5p15.33, P = 5.15E-04, OR = 1.42, 95%CI: 1.17-1.73). 28988600 2018
Basal Cell Cancer
CUI: C0751676
Disease: Basal Cell Cancer
0.700 GeneticVariation GWASCAT Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. 24403052 2014
Basal Cell Cancer
CUI: C0751676
Disease: Basal Cell Cancer
0.700 GeneticVariation GWASCAT Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. 19151717 2009
Basal Cell Cancer
CUI: C0751676
Disease: Basal Cell Cancer
0.700 GeneticVariation GWASCAT New basal cell carcinoma susceptibility loci. 25855136 2015
Basal cell carcinoma
CUI: C0007117
Disease: Basal cell carcinoma
0.700 GeneticVariation GWASCAT Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. 24403052 2014
Basal cell carcinoma
CUI: C0007117
Disease: Basal cell carcinoma
0.700 GeneticVariation GWASCAT New basal cell carcinoma susceptibility loci. 25855136 2015
Basal cell carcinoma
CUI: C0007117
Disease: Basal cell carcinoma
0.700 GeneticVariation GWASCAT Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. 19151717 2009
Basal Cell Neoplasm
CUI: C0206710
Disease: Basal Cell Neoplasm
0.700 GeneticVariation GWASCAT Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. 19151717 2009
Basal Cell Neoplasm
CUI: C0206710
Disease: Basal Cell Neoplasm
0.700 GeneticVariation GWASCAT New basal cell carcinoma susceptibility loci. 25855136 2015
Basal Cell Neoplasm
CUI: C0206710
Disease: Basal Cell Neoplasm
0.700 GeneticVariation GWASCAT Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. 24403052 2014
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
0.010 GeneticVariation BEFREE Results showed that heterogeneity in ORs of tumor categories was not significant for either rs11892031 or rs401681 (p>0.05), indicating that the two SNPs seemingly do not associate with tumor grade and stage of bladder cancer in our study population. 25347272 2014
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.010 GeneticVariation BEFREE These results suggested that the rs401681 polymorphism contributes to lung carcinogenesis only in patients harboring an EGFR mutation. 29033187 2017
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.710 GeneticVariation GWASCAT Genome-wide association study identifies multiple loci associated with bladder cancer risk. 24163127 2014
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.710 GeneticVariation BEFREE Results showed that heterogeneity in ORs of tumor categories was not significant for either rs11892031 or rs401681 (p>0.05), indicating that the two SNPs seemingly do not associate with tumor grade and stage of bladder cancer in our study population. 25347272 2014
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
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.800 GeneticVariation BEFREE Our findings demonstrated that rs402710 and rs401681 are risk-conferring factors for the development of lung cancer. 24907075 2014
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
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