Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3117582
rs3117582
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.060 GeneticVariation BEFREE A meta-analysis provided increased support that variation at 15q25.1 (rs8034191; P = 3.24 x 10(-26)), 5p15.33 (rs4975616; P = 2.99 x 10(-9)), and 6p21.33 (rs3117582; P = 4.46 x 10(-10)) influences lung cancer risk. 19654303

2009

dbSNP: rs78768932
rs78768932
PXN
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.020 GeneticVariation BEFREE A murine in vivo xenograft model of the most common paxillin mutation (A127T) showed increased cell proliferation and invasive tumour growth, establishing an important role for paxillin in the development of lung cancer. 21045234

2011

dbSNP: rs1420841957
rs1420841957
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE A novel EGFR mutation D1012H and polymorphism at exon 25 in Japanese lung cancer. 18478265

2008

dbSNP: rs121434568
rs121434568
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE A patient with metastatic lung adenocarcinoma harboring concurrent EGFR L858R, EGFR germline T790M, and PIK3CA mutations: the challenge of interpreting results of comprehensive mutational testing in lung cancer. 24453288

2014

dbSNP: rs1057519848
rs1057519848
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE A patient with metastatic lung adenocarcinoma harboring concurrent EGFR L858R, EGFR germline T790M, and PIK3CA mutations: the challenge of interpreting results of comprehensive mutational testing in lung cancer. 24453288

2014

dbSNP: rs1057519847
rs1057519847
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE A patient with metastatic lung adenocarcinoma harboring concurrent EGFR L858R, EGFR germline T790M, and PIK3CA mutations: the challenge of interpreting results of comprehensive mutational testing in lung cancer. 24453288

2014

dbSNP: rs121434569
rs121434569
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE A patient with metastatic lung adenocarcinoma harboring concurrent EGFR L858R, EGFR germline T790M, and PIK3CA mutations: the challenge of interpreting results of comprehensive mutational testing in lung cancer. 24453288

2014

dbSNP: rs121434569
rs121434569
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE A phase II trial of EGFR-TKI readministration with afatinib in advanced non-small-cell lung cancer harboring a sensitive non-T790M EGFR mutation: Okayama Lung Cancer Study Group trial 1403. 30276451

2018

dbSNP: rs876658657
rs876658657
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.030 GeneticVariation BEFREE A polymorphism in the hMLH1 gene (-93G-->A) associated with lung cancer susceptibility and prognosis. 19956916

2010

dbSNP: rs121434569
rs121434569
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE A preexisting EGFR T790M mutation was noted in 25% of patients with EGFR-mutant lung cancer. 24737599

2014

dbSNP: rs16969968
rs16969968
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE A rare variant of chromosomal region 15q25.1, marked by rs16969968 (substitution 1354G>A in CHRNA5), was found to be associated with increased lung cancer and nicotine-dependence risk. 21955800

2012

dbSNP: rs4880
rs4880
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.080 GeneticVariation BEFREE A review was conducted of 136 patients treated with radiation therapy for lung cancer between 2001 and 2007, and who had prior genotyping of functional single-nucleotide polymorphisms in oxidative stress genes including superoxide dismutase 2 (SOD2; rs4880) and methylene tetrahydrofolate reductase (MTHFR; rs1801131, rs1801133). 22144047

2012

dbSNP: rs1801133
rs1801133
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.040 GeneticVariation BEFREE A review was conducted of 136 patients treated with radiation therapy for lung cancer between 2001 and 2007, and who had prior genotyping of functional single-nucleotide polymorphisms in oxidative stress genes including superoxide dismutase 2 (SOD2; rs4880) and methylene tetrahydrofolate reductase (MTHFR; rs1801131, rs1801133). 22144047

2012

dbSNP: rs1801131
rs1801131
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.020 GeneticVariation BEFREE A review was conducted of 136 patients treated with radiation therapy for lung cancer between 2001 and 2007, and who had prior genotyping of functional single-nucleotide polymorphisms in oxidative stress genes including superoxide dismutase 2 (SOD2; rs4880) and methylene tetrahydrofolate reductase (MTHFR; rs1801131, rs1801133). 22144047

2012

dbSNP: rs25487
rs25487
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE A significant association was found between SULT1A1 rs9282861 and XRCC1 rs25487 polymorphisms and lung cancer risk. 29110586

2017

dbSNP: rs9282861
rs9282861
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.050 GeneticVariation BEFREE A significant association was found between SULT1A1 rs9282861 and XRCC1 rs25487 polymorphisms and lung cancer risk. 29110586

2017

dbSNP: rs11615
rs11615
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.040 GeneticVariation BEFREE A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs11615 and lung cancer risk in a Chinese population. 22335888

2012

dbSNP: rs2736100
rs2736100
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE A statistically significant association between lung cancer risk and 5p15.33 genotypes was found: rs2736100 (odds ratio = 0.78, 95% confidence interval: 0.63-0.97; P = 0.02), rs4975616 (odds ratio = 0.69, 95% confidence interval: 0.55-0.85; P = 7.95 x 10(-4)), primarily for adenocarcinoma. 19955392

2010

dbSNP: rs4975616
rs4975616
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.020 GeneticVariation BEFREE A statistically significant association between lung cancer risk and 5p15.33 genotypes was found: rs2736100 (odds ratio = 0.78, 95% confidence interval: 0.63-0.97; P = 0.02), rs4975616 (odds ratio = 0.69, 95% confidence interval: 0.55-0.85; P = 7.95 x 10(-4)), primarily for adenocarcinoma. 19955392

2010

dbSNP: rs4919510
rs4919510
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.050 GeneticVariation BEFREE A total of 37 patients with non-small cell lung cancer (NSCLC) were selected to determine the expression levels of miR-608; 96 NSCLC patients and 136 cancer-free healthy controls were recruited to determine the incidence of miR-608 rs4919510 in lung cancer patients. 31552102

2019

dbSNP: rs121434568
rs121434568
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE A total of 50 lung cancer patients' tumor tissues were analyzed, and two frequent mutations associated with therapeutic efficiency of lung cancer were identified, including deletion of exon 19 (8/50) and L858R point mutation in exon 21 (12/50). 22901298

2012

dbSNP: rs1057519848
rs1057519848
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE A total of 50 lung cancer patients' tumor tissues were analyzed, and two frequent mutations associated with therapeutic efficiency of lung cancer were identified, including deletion of exon 19 (8/50) and L858R point mutation in exon 21 (12/50). 22901298

2012

dbSNP: rs1057519847
rs1057519847
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE A total of 50 lung cancer patients' tumor tissues were analyzed, and two frequent mutations associated with therapeutic efficiency of lung cancer were identified, including deletion of exon 19 (8/50) and L858R point mutation in exon 21 (12/50). 22901298

2012

dbSNP: rs121434569
rs121434569
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE AC0010, an Irreversible EGFR Inhibitor Selectively Targeting Mutated EGFR and Overcoming T790M-Induced Resistance in Animal Models and Lung Cancer Patients. 27573423

2016

dbSNP: rs5743336
rs5743336
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE According to our data, the rs5743336 variant of the NOD1/CARD4 gene may influence the diagnosis and treatment of lung cancer, whereas the rs2066847 variant of the NOD2/CARD15 gene is not associated with lung cancer risk in the Turkish population. 26238283

2015