Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.040 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: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.040 GeneticVariation BEFREE The ERCC1 rs3212986 polymorphism was the most associated with the risk of developing lung cancer, both for low and high radon exposures. 31446980 2019
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.040 GeneticVariation BEFREE Conclusion We concluded that in lung cancer patients there is a relationship between tumor stage and rs3212986C>A polymorphism. 31245210 2019
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.040 GeneticVariation BEFREE Particularly stratified by smoking status in cases and controls, A allele of ERCC1 rs3212986 also exhibited an enhanced risk to develop lung cancer in smokers only (P < 0.05). 30453383 2018
dbSNP: rs735482
rs735482
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.040 GeneticVariation BEFREE In conclusion, we were able to reproduce previously found associations between PPP1R13L and CD3EAP polymorphisms and lung cancer risk in an increased study group, and we found interactions between NFKB1 rs28362491-PPP1R13L rs1970764 and smoking duration and between CD3EAP rs735482 and smoking duration. 26563375 2016
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.040 GeneticVariation BEFREE Pooled ORs from 11 eligible studies (8,215 cases vs. 11,402 controls) suggested a significant association of ERCC1 rs11615 with increased risk for lung cancer (homozygous: CC versus TT, OR = 1.24, 95% CI: 1.04-1.48, P = 0.02). 24841208 2014
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.040 GeneticVariation BEFREE An updated meta-analysis was conducted to explore whether lung cancer risk could be attributed to the following ERCC1 polymorphisms: rs11615 (T>C), rs3212986 (C>A), rs3212961 (A>C), rs3212948 (G>C), rs2298881 (C>A). 24841208 2014
dbSNP: rs735482
rs735482
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.040 GeneticVariation BEFREE We addressed the effects of variants/haplotypes of PPP1R13L rs1970764 and CD3EAP rs967591 and rs735482 on susceptibility of lung cancer among nonsmoking Chinese women. 23624123 2013
dbSNP: rs735482
rs735482
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.040 GeneticVariation BEFREE Both carriers of variant CC genotype [adjusted OR (95% CI)=1.28 (1.02-1.60), P=0.04] and variant C-allele among >20 years' smokers [OR (95% CI)=2.13 (1.24-3.67), P=0.006] for CD3EAP rs735482 were at increased risk of lung cancer. 24140460 2013
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.040 GeneticVariation BEFREE Furthermore, a significant effect of SNPs in nucleotide excision repair pathway on lung cancer survival was observed among 185 stages III-IV patients treated with platinum-based chemotherapy without surgical operation: XPC rs2228000 (Ala499Val; P = 0.002) and ERCC1 rs11615 (Asn118Asn; P = 0.012). 21739480 2012
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0242379
Disease:
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: rs735482
rs735482
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.040 GeneticVariation BEFREE In order to comprehensively capture common genetic variation in the ERCC1 gene, Caucasian data from the International HapMap project was used to assess linkage disequilibrium and choose four tagSNPs (rs1319052, rs3212955, rs3212948, and rs735482) in the ERCC1 gene to genotype 452 lung cancer cases, 175 H&N cancer cases, and 790 healthy controls. 20863778 2011
dbSNP: rs2298881
rs2298881
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.030 GeneticVariation BEFREE An updated meta-analysis was conducted to explore whether lung cancer risk could be attributed to the following ERCC1 polymorphisms: rs11615 (T>C), rs3212986 (C>A), rs3212961 (A>C), rs3212948 (G>C), rs2298881 (C>A). 24841208 2014
dbSNP: rs2298881
rs2298881
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.030 GeneticVariation BEFREE MDR (multifactor dimensionality reduction) analysis demonstrated the best significant model of two-attributes containing smoking duration and rs2298881 in ERCC1 (P=0.004-0.005) and suggested that the effects of high-order interactions among smoking duration and ERCC2, PPP1R13, ERCC1 htSNPs could modulate lung cancer risk. 24140460 2013
dbSNP: rs2298881
rs2298881
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.030 GeneticVariation BEFREE Thus, the variant alleles of rs3212961 [OR (95% CI)=1.81(1.03-3.17), P=0.04] and rs2298881 [OR (95% CI)=2.16(1.26-3.70), P=0.005] were associated with risk of lung cancer among long-term smokers (>20 years) but not among never smokers and short-term smokers. 21601580 2011
dbSNP: rs3212948
rs3212948
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.020 GeneticVariation BEFREE Moreover, no statistically significant association was found between remaining ERCC1 polymorphisms of interest and lung cancer risk, except for rs3212948 variation (heterozygous: CG vs.GG, OR = 0.78, 95% CI: 0.67-0.90, P = 0.001; dominant: CG/CC vs.GG, OR = 0.79, 95% CI: 0.69-0.91, P = 0.001). 24841208 2014
dbSNP: rs3212961
rs3212961
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.020 GeneticVariation BEFREE An updated meta-analysis was conducted to explore whether lung cancer risk could be attributed to the following ERCC1 polymorphisms: rs11615 (T>C), rs3212986 (C>A), rs3212961 (A>C), rs3212948 (G>C), rs2298881 (C>A). 24841208 2014
dbSNP: rs3212961
rs3212961
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.020 GeneticVariation BEFREE Thus, the variant alleles of rs3212961 [OR (95% CI)=1.81(1.03-3.17), P=0.04] and rs2298881 [OR (95% CI)=2.16(1.26-3.70), P=0.005] were associated with risk of lung cancer among long-term smokers (>20 years) but not among never smokers and short-term smokers. 21601580 2011
dbSNP: rs3212948
rs3212948
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.020 GeneticVariation BEFREE We found that the variant genotypes of the rs3212948 C allele were associated with significantly decreased risk of lung cancer [adjusted odds ratio (OR)=0.73 (95% CI=0.60-0.88) for CG; 0.96 (95% CI=0.65-1.41) for CC and 0.76 (95% CI=0.63-0.91) for CG/CC, compared with the GG genotype]. 17502833 2007
dbSNP: rs62109563
rs62109563
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE The combined data suggest that the sub-region with the strongest association to lung cancer susceptibility might locate to the 23.173kb from PPP1R13L intron8 rs1970764 to rs62109563 3' to CD3EAP. 27183913 2016
dbSNP: rs1046282
rs1046282
Entrez Id: 2067;10848;10849
Gene Symbol: ERCC1;PPP1R13L;CD3EAP
ERCC1;PPP1R13L;CD3EAP
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE The haplotype ERCC2 rs3916874(G) and rs238415(C) [OR (95% CI)=1.26 (1.02-1.57), P=0.03] in block 1 and the haplotype PPP1R13L rs4803817(A), CD3EAP rs1046282(T), rs735482(C), ERCC1 rs3212980(A), rs3212964(G) [OR (95% CI)=3.56 (1.55-8.18), P=0.005] in block 3 were associated with lung cancer risk. 24140460 2013
dbSNP: rs3212964
rs3212964
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE The haplotype ERCC2 rs3916874(G) and rs238415(C) [OR (95% CI)=1.26 (1.02-1.57), P=0.03] in block 1 and the haplotype PPP1R13L rs4803817(A), CD3EAP rs1046282(T), rs735482(C), ERCC1 rs3212980(A), rs3212964(G) [OR (95% CI)=3.56 (1.55-8.18), P=0.005] in block 3 were associated with lung cancer risk. 24140460 2013
dbSNP: rs3212980
rs3212980
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE The haplotype ERCC2 rs3916874(G) and rs238415(C) [OR (95% CI)=1.26 (1.02-1.57), P=0.03] in block 1 and the haplotype PPP1R13L rs4803817(A), CD3EAP rs1046282(T), rs735482(C), ERCC1 rs3212980(A), rs3212964(G) [OR (95% CI)=3.56 (1.55-8.18), P=0.005] in block 3 were associated with lung cancer risk. 24140460 2013
dbSNP: rs1362623672
rs1362623672
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE We investigated the relationship between polymorphisms in ATM (A60G), ERCC1 (Asn118Asn), APE1 (Asn148Glu) and iASPP (A67T) and the risk of developing lung cancer. 20354815 2011