Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE To analyze the relationship of GSTT1, GSTM1, XRCC1 (rs25487), ERCC1 (rs11615, rs3212986), ERCC2 (rs13181), XRCC3 (rs861539), OGG1 (rs1052133), and Alpha-1-Antitrypsin mutations (AAT) with the risk of lung cancer in never-smokers, and ascertain if there is an effect modification between these polymorphisms and residential radon exposure. 31446980 2019
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE To sum up, ERCC2-rs13181 polymorphism could be a critical factor in stimulating LC evolvement. 31337555 2019
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE We investigated associations between the risk of lung cancer in residents of the coal-mining region and polymorphisms in the genes APEX1 (rs1130409), hOGG1 (rs1052133), XRCC1 (rs25489, rs25487), XRCC2 (rs3218536), XRCC3 (rs861539), ADPRT/PARP1 (rs1136410), XPD/ERCC2 (rs13181), XPG/ERCC5 (rs17655), XPC (rs2228001), ATM (rs1801516), and NBS1 (rs1805794). 31584889 2019
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE In classification and regression tree analysis (CART), we observed a 6-fold risk for SCLC patients carrying XPA 5'UTR (M), XPD K751Q (W) (OR: 6.20; 95%CI: 2.40-16.01, p = 0.0001).Polymorphic NER genes might jointly modulate lung cancer risk through gene-gene and gene-smoking interaction. 31195348 2019
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 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: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE The analysis results showed that the following polymorphisms were correlated with susceptibility to lung cancer: rs4646903 in CYP1A1 (P < 0.001), rs1048943 in CYP1A1 (P < 0.001), rs1695 in GSTP1 (P < 0.05), rs13181 in ERCC2 (P < 0.001), and rs25487 in XRCC1 (P < 0.05); no such correlation existed in rs861539 in XRCC3 (P > 0.05). 27819744 2016
dbSNP: rs759412116
rs759412116
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE In the present study, we investigated the polymorphisms of the following selected members of the base and nucleotide excision repair genes: XPC (Lys939Gln), XPD (Lys751Gln), XRCC1(Arg399Gln), and hOGG1(Ser326Ser), and the risk they present toward the development of lung cancer, with emphasis on the effect of chromium exposure. 25300687 2015
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE Our analyses demonstrate that XPD rs13181 may be associated with an increase in the risk of lung cancer among Caucasian populations. 24845027 2014
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE This study aimed to explore the role of XRCC1 (Arg399Gln) and XPD (Lys751Gln) gene polymorphisms, lifestyle and environmental factors as well as their possible interactions in propensity to develop lung cancer in a population with high incidence from North East India. 24716924 2014
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE This meta-analysis indicates that ERCC2 Lys751Gln polymorphism may lead to an increased susceptibility to lung c</span>ancer risk among Caucasians and Asians. 24556168 2014
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE In conclusion, Lys751Gln in ERCC2 is associated with lung cancer, and the risk effect probably exists in Caucasians. 24368330 2014
dbSNP: rs1799793
rs1799793
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE In conclusion, this meta-analysis suggested ERCC2 Asp312Asn polymorphism may increase the risk of lung cancer among Asians, whereas not among Caucasians. 24083550 2014
dbSNP: rs759412116
rs759412116
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE This study aimed to explore the role of XRCC1 (Arg399Gln) and XPD (Lys751Gln) gene polymorphisms, lifestyle and environmental factors as well as their possible interactions in propensity to develop lung cancer in a population with high incidence from North East India. 24716924 2014
dbSNP: rs759412116
rs759412116
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE In the present study, we investigated the polymorphisms of following selected DNA repair genes: XPC (Lys939Gln), XPD (Lys751Gln), hOGG1 (Ser326Cys) and XRCC1 (Arg399Gln), and the risks they present towards the development of lung cancer with the emphasis to gender differences within the Slovak population. 23673479 2013
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE To better evaluate the potential role of the two polymorphisms and interaction with tobacco smoking in lung cancer susceptibility presented in diverse populations, we have conducted a meta-analysis based on 26 studies from 24 publications which included analyses of Asp312Asn (7121 cases, 8962 controls) and Lys751Gln (8396 cases, 10510 controls) polymorphisms. 21614524 2012
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive model) and rs1805794 in the NBN gene and bladder cancer (dominant model). 21864546 2012
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE CYP1A1 rs4646903 (OR = 1.72, 95% CI = 1.25-2.38), rs1048943 (OR = 1.40, 95% CI = 1.02-1.92), the GSTM1 deletion polymorphism (OR = 1.38, 95% CI = 1.01-1.89), GSTP1 rs1695 (OR =1.48, 95% CI = 1.04-2.11), ERCC2 rs13181 (OR = 1.89, 95% CI = 1.28-2.78), and Chinese hamster 1 rs25487 (OR = 1.54, 95% CI = 1.12-2.13) were associated with lung cancer risk whereas the GSTT1 deletion polymorphism and XRCC3 rs861539 were not. 22525558 2012
dbSNP: rs1799793
rs1799793
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive model) and rs1805794 in the NBN gene and bladder cancer (dominant model). 21864546 2012
dbSNP: rs1799793
rs1799793
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE To better evaluate the potential role of the two polymorphisms and interaction with tobacco smoking in lung cancer susceptibility presented in diverse populations, we have conducted a meta-analysis based on 26 studies from 24 publications which included analyses of Asp312Asn (7121 cases, 8962 controls) and Lys751Gln (8396 cases, 10510 controls) polymorphisms. 21614524 2012
dbSNP: rs1799793
rs1799793
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways, and 6 SNPs were remained in the final model after multivariate stepwise Cox regression analysis: ATM rs189037; MRE11A rs11020802; ERCC2 rs1799793; MBD4 rs140693; XRCC1 rs25487, and PMS1 rs5742933. 21739480 2012
dbSNP: rs1799793
rs1799793
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE ERCC2 Asp/Asn (rs1799793) polymorphism may also affect lung cancer risk among nonsmokers. 21195504 2011
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE In conclusion, this meta-analysis suggests that the ERCC2 Lys751Gln polymorphism may contribute to lung cancer susceptibility among Caucasians. 20627704 2010
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE This meta-analysis suggests that the XPD Lys751Gln and Asp312Asn gene polymorphisms are associated with lung cancer risk, the C allele of XPD Lys751Gln genotype is an increased risk factor for developing lung cancer among Caucasians and in smokers, and the A allele of XPD 312 genotype is also an increased risk factor among Asians and in smokers. 20651612 2010
dbSNP: rs1799793
rs1799793
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE This meta-analysis suggests that the XPD Lys751Gln and Asp312Asn gene polymorphisms are associated with lung cancer risk, the C allele of XPD Lys751Gln genotype is an increased risk factor for developing lung cancer among Caucasians and in smokers, and the A allele of XPD 312 genotype is also an increased risk factor among Asians and in smokers. 20651612 2010
dbSNP: rs759412116
rs759412116
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE We here analyzed associations of XPD Lys751Gln, APEX1 Asp148Glu, XRCC1 Arg399Gln, and XRCC3 Thr241Met gene polymorphisms in DNA repair pathways in relation to the risk of lung cancer using PCR-RFLP. 21198260 2010