Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913530
rs121913530
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.880 GeneticVariation BEFREE Although this mutation in KRAS accounts for 11% of all KRAS mutations in cancer, it is the most prominent KRAS mutant in lung cancer suggesting that G12C-specific inhibitors may provide a new approach for treating the subset of lung cancer patients harboring this mutant allele. 30366101

2019

dbSNP: rs121913530
rs121913530
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.880 GeneticVariation BEFREE We developed an integrative pharmacogenomics analysis to identify potential drug targets to overcome MEK/ERK inhibitor resistance in lung cancer cell lines with KRAS(G12C) mutation (n = 12). 31668570

2019

dbSNP: rs121913530
rs121913530
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.880 GeneticVariation BEFREE Adding mTOR and IGF1R inhibitors to ARS-1620 greatly improves its effectiveness on KRAS-G12C mutant lung cancer cells in vitro and in mouse models. 31534020

2019

dbSNP: rs121913530
rs121913530
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.880 GeneticVariation BEFREE To substantiate these results, an allitinib-sensitive lung cancer-derived cell line (H292) was transfected with plasmids carrying the two most common activating KRAS mutations (p.G12D and p.G12S). 26920031

2016

dbSNP: rs121913530
rs121913530
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.880 GeneticVariation BEFREE Since hypoxic microenvironments select for tumor cells with diminished therapeutic response, we investigated whether hypoxia unequally increases resistance to 3-BrPA in wt p53 MelJuso melanoma harbouring (Q61L)-mutant NRAS and wt BRAF, C8161 melanoma with (G12D)-mutant KRAS (G464E)-mutant BRAF, and A549 lung carcinoma with a KRAS (G12S)-mutation. 27863474

2016

dbSNP: rs121913530
rs121913530
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.880 GeneticVariation BEFREE Next generation sequencing performed on the Ion Torrent platforms by the Ion Ampliseq Colon and Lung Cancer panel showed a similar genomic profile in both neoplastic sites with a concurrent KRAS G12C mutation. 25900221

2015

dbSNP: rs121913530
rs121913530
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.880 GeneticVariation BEFREE Gene-expression profiles in lung cancer cell lines and surgically resected lung AC revealed that KRAS-G12C mutants had an epithelial to mesenchymal transition and a KRAS-independent phenotype. 25170638

2014

dbSNP: rs121913530
rs121913530
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.880 GeneticVariation BEFREE Our study demonstrated that TRAIL significantly suppressed cell survival, by inducing apoptosis in a dose-dependent manner, in the pancreatic cancer BxPC-3 (wild type G12) and lung cancer A549 (G12S) cell lines. 20848283

2011

dbSNP: rs121913530
rs121913530
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.880 GeneticVariation UNIPROT

dbSNP: rs121913530
rs121913530
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
A 0.880 CausalMutation CLINVAR

dbSNP: rs1051730
rs1051730
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
T 0.800 GeneticVariation GWASCAT Identification of susceptibility pathways for the role of chromosome 15q25.1 in modifying lung cancer risk. 30104567

2018

dbSNP: rs1051730
rs1051730
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE In addition, the A alleles in CHRNA3 rs1051730 and CHRNA5 rs16969968 were associated with the risk for LC (OR = 1.66, P = 0.07 and OR = 1.57, P = 0.1, respectively) and for COPD (OR = 2.04, P = 0.01 and OR = 1.91, P = 0.02, respectively). 29993116

2018

dbSNP: rs1051730
rs1051730
CUI: C0684249
Disease: Carcinoma of lung
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

dbSNP: rs1051730
rs1051730
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE The potential association of three polymorphisms in the CHRNA3 (rs1051730(G > A)), CHRNA5 (rs16969968(G > A)), and AGPHD1 (rs8034191(A > G)) with the lung cancer risk has been widely investigated, but the results are inconsistent. 27072204

2016

dbSNP: rs1051730
rs1051730
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE We observed a significant association between lung cancer and rs1051730 in pooled population by using allele (OR = 1.30, 95% CI = 1.27-1.34, P <  0.0001), dominant (OR = 1.41, 95% CI = 1.29-1.55, P < 0.0001), recessive (OR = 1.53, 95% CI = 1.42-1.65, P < 0.0001) and additive (OR = 1.75, 95% CI = 1.61-1.90, P < 0.0001) models. 26508385

2015

dbSNP: rs1051730
rs1051730
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE In conclusion, this meta-analysis demonstrated that the two common variations (rs8034191 and rs1051730) at 15q25 are a risk factor associated with increased LC susceptibility, but these associations vary in different ethnic populations. 24254305

2014

dbSNP: rs1051730
rs1051730
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE The nicotinic acetylcholine receptor polymorphism (rs1051730) on chromosome 15q25 is associated with major tobacco-related diseases in the general population with additional increased risk of COPD as well as lung cancer. 23061658

2012

dbSNP: rs1051730
rs1051730
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE Here, the authors apply a novel method for mediation analysis, allowing for gene-environment interaction, to a lung cancer case-control study (1992-2004) conducted at Massachusetts General Hospital using 2 single nucleotide polymorphisms, rs8034191 and rs1051730, on 15q25.1. 22306564

2012

dbSNP: rs1051730
rs1051730
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE Our findings demonstrated that CHRNA3 gene rs1051730-A allele and AGPHD1 gene rs8034191-T allele might be risk-conferring factors for the development of lung cancer in Caucasians, but not in East-Asians. 22701590

2012

dbSNP: rs1051730
rs1051730
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE The increase in cotinine levels indicated an increased risk of lung cancer with each additional copy of the rs1051730-rs16969968 risk allele (per-allele odds ratio = 1.31, 95% CI = 1.21 to 1.42). 22534784

2012

dbSNP: rs1051730
rs1051730
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE The CHRNA3 rs1051730 polymorphism has been associated to chronic obstructive pulmonary disease (COPD), lung cancer and nicotine dependence in case-control studies with high smoking exposure; however, its influence on lung function and COPD severity in the general population is largely unknown. 22441734

2012

dbSNP: rs1051730
rs1051730
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE We also investigated the relationship between the rs1051730 SNP in an intron of the CHRNA3 gene (the polymorphism most significantly associated with lung cancer risk and smoking behavior) and TSD. 21645942

2011

dbSNP: rs1051730
rs1051730
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE We found that 2 risk single nucleotide polymorphisms reported in the lung cancer GWA studies-rs8034191: A>G and rs1051730: G>A, located in this 15q24-25.1 region-were not associated with risk of pancreatic cancer. 21697764

2011

dbSNP: rs1051730
rs1051730
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE Similarly, neither CHRNA3 rs8034191 nor rs1051730 were associated with lung cancer risk. 20068085

2010

dbSNP: rs1051730
rs1051730
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE We further showed that these two genetic variants on 15q24-25.1 independently influence lung cancer risk (rs1051730: P = 4.42 x 10(-11); OR, 1.60; 95% CI, 1.46-1.74; rs481134: P = 7.01 x 10(-4); OR, 0.81; 95% CI, 0.72-0.92). 20395203

2010