Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1046282
rs1046282
Entrez Id: 2067;10848;10849
Gene Symbol: ERCC1;PPP1R13L;CD3EAP
ERCC1;PPP1R13L;CD3EAP
CUI: C1306460
Disease:
Primary 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: 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: rs1046282
rs1046282
Entrez Id: 2067;10848;10849
Gene Symbol: ERCC1;PPP1R13L;CD3EAP
ERCC1;PPP1R13L;CD3EAP
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE The results of clinicopathologic analysis showed that A allele at the rs737241 locus could increase the expression level of AFP (P = .007), the rs1046282 mutation C allele could increase the AFP expression level (P = .011), rs4024 locus mutation A allele could reduce the risk of vascular invasion (P = .013), rs3212948 locus mutation T allele could reduce the differentiation of liver cancer (P = .022), rs1046282 locus C allele could reduce the DNA load of hepatitis B virus (P = .035), and rs735482 A allele could increase the tumor size in HCC (P = .037).The SNPs in rs737241 for AFP gene may correlate with the occurrence of HCC. 30946366 2019
dbSNP: rs1046282
rs1046282
Entrez Id: 2067;10848;10849
Gene Symbol: ERCC1;PPP1R13L;CD3EAP
ERCC1;PPP1R13L;CD3EAP
CUI: C0019163
Disease:
Hepatitis B
0.010 GeneticVariation BEFREE The results of clinicopathologic analysis showed that A allele at the rs737241 locus could increase the expression level of AFP (P = .007), the rs1046282 mutation C allele could increase the AFP expression level (P = .011), rs4024 locus mutation A allele could reduce the risk of vascular invasion (P = .013), rs3212948 locus mutation T allele could reduce the differentiation of liver cancer (P = .022), rs1046282 locus C allele could reduce the DNA load of hepatitis B virus (P = .035), and rs735482 A allele could increase the tumor size in HCC (P = .037).The SNPs in rs737241 for AFP gene may correlate with the occurrence of HCC. 30946366 2019
dbSNP: rs1046282
rs1046282
Entrez Id: 2067;10848;10849
Gene Symbol: ERCC1;PPP1R13L;CD3EAP
ERCC1;PPP1R13L;CD3EAP
CUI: C0220630
Disease:
Adult Liver Carcinoma
0.010 GeneticVariation BEFREE The results of clinicopathologic analysis showed that A allele at the rs737241 locus could increase the expression level of AFP (P = .007), the rs1046282 mutation C allele could increase the AFP expression level (P = .011), rs4024 locus mutation A allele could reduce the risk of vascular invasion (P = .013), rs3212948 locus mutation T allele could reduce the differentiation of liver cancer (P = .022), rs1046282 locus C allele could reduce the DNA load of hepatitis B virus (P = .035), and rs735482 A allele could increase the tumor size in HCC (P = .037).The SNPs in rs737241 for AFP gene may correlate with the occurrence of HCC. 30946366 2019
dbSNP: rs1046282
rs1046282
Entrez Id: 2067;10848;10849
Gene Symbol: ERCC1;PPP1R13L;CD3EAP
ERCC1;PPP1R13L;CD3EAP
CUI: C0279000
Disease:
Liver and Intrahepatic Biliary Tract Carcinoma
0.010 GeneticVariation BEFREE The results of clinicopathologic analysis showed that A allele at the rs737241 locus could increase the expression level of AFP (P = .007), the rs1046282 mutation C allele could increase the AFP expression level (P = .011), rs4024 locus mutation A allele could reduce the risk of vascular invasion (P = .013), rs3212948 locus mutation T allele could reduce the differentiation of liver cancer (P = .022), rs1046282 locus C allele could reduce the DNA load of hepatitis B virus (P = .035), and rs735482 A allele could increase the tumor size in HCC (P = .037).The SNPs in rs737241 for AFP gene may correlate with the occurrence of HCC. 30946366 2019
dbSNP: rs1046282
rs1046282
Entrez Id: 2067;10848;10849
Gene Symbol: ERCC1;PPP1R13L;CD3EAP
ERCC1;PPP1R13L;CD3EAP
CUI: C0345904
Disease:
Malignant neoplasm of liver
0.010 GeneticVariation BEFREE The results of clinicopathologic analysis showed that A allele at the rs737241 locus could increase the expression level of AFP (P = .007), the rs1046282 mutation C allele could increase the AFP expression level (P = .011), rs4024 locus mutation A allele could reduce the risk of vascular invasion (P = .013), rs3212948 locus mutation T allele could reduce the differentiation of liver cancer (P = .022), rs1046282 locus C allele could reduce the DNA load of hepatitis B virus (P = .035), and rs735482 A allele could increase the tumor size in HCC (P = .037).The SNPs in rs737241 for AFP gene may correlate with the occurrence of HCC. 30946366 2019
dbSNP: rs1046282
rs1046282
Entrez Id: 2067;10848;10849
Gene Symbol: ERCC1;PPP1R13L;CD3EAP
ERCC1;PPP1R13L;CD3EAP
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE The results of clinicopathologic analysis showed that A allele at the rs737241 locus could increase the expression level of AFP (P = .007), the rs1046282 mutation C allele could increase the AFP expression level (P = .011), rs4024 locus mutation A allele could reduce the risk of vascular invasion (P = .013), rs3212948 locus mutation T allele could reduce the differentiation of liver cancer (P = .022), rs1046282 locus C allele could reduce the DNA load of hepatitis B virus (P = .035), and rs735482 A allele could increase the tumor size in HCC (P = .037).The SNPs in rs737241 for AFP gene may correlate with the occurrence of HCC. 30946366 2019
dbSNP: rs1046282
rs1046282
Entrez Id: 2067;10848;10849
Gene Symbol: ERCC1;PPP1R13L;CD3EAP
ERCC1;PPP1R13L;CD3EAP
CUI: C1269955
Disease:
Tumor Cell Invasion
0.010 GeneticVariation BEFREE The results of clinicopathologic analysis showed that A allele at the rs737241 locus could increase the expression level of AFP (P = .007), the rs1046282 mutation C allele could increase the AFP expression level (P = .011), rs4024 locus mutation A allele could reduce the risk of vascular invasion (P = .013), rs3212948 locus mutation T allele could reduce the differentiation of liver cancer (P = .022), rs1046282 locus C allele could reduce the DNA load of hepatitis B virus (P = .035), and rs735482 A allele could increase the tumor size in HCC (P = .037).The SNPs in rs737241 for AFP gene may correlate with the occurrence of HCC. 30946366 2019
dbSNP: rs1046282
rs1046282
Entrez Id: 2067;10848;10849
Gene Symbol: ERCC1;PPP1R13L;CD3EAP
ERCC1;PPP1R13L;CD3EAP
CUI: C0684249
Disease:
Carcinoma 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: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0017638
Disease:
Glioma
0.070 GeneticVariation BEFREE ERCC1 rs3212986 is a common single nucleotide polymorphism and may contribute toward individual susceptibility for glioma. 26264164 2016
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0017638
Disease:
Glioma
0.070 GeneticVariation BEFREE This meta-analysis suggests that glioma susceptibility is associated with rs1799782 and rs25487 of X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), rs1805377 of XRCC4, rs1800067 of excision repair cross-complementing rodent repair deficiency complementation group 4 (ERCC4) and rs3212986 of ERCC1 in Asian population, and rs12917 of O-6-methylguanine-DNA methyltransferase (MGMT) and rs1136410 of poly(ADP-ribose) polymerase 1 (PARP1) in Caucasian population. 27055523 2017
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0017638
Disease:
Glioma
0.070 GeneticVariation BEFREE Our meta-analysis indicated that the ERCC1 rs3212986 polymorphism and 2 polymorphisms in ERCC2 gene (rs13181 and rs1799793) contributed to the susceptibility of glioma. 28514298 2017
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0017638
Disease:
Glioma
0.070 GeneticVariation BEFREE Genetic variants found in DNA repair genes (ERCC1, rs3212986; ERCC2, rs13181; ERCC4, rs1800067; ERCC5, rs17655; XRCC1, rs1799782, rs25487, rs25489; XRCC3, rs861539) have been reported to have an ambivalent association with the development of glioma. 26843108 2017
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0017638
Disease:
Glioma
0.070 GeneticVariation BEFREE For ERCC1 C8092A (dbSNP: rs3212986, C>A), the combined results show that carriers of the AA genotype may be associated with a higher risk of adult glioma than carriers of the CA and CC genotypes. 24254311 2014
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0017638
Disease:
Glioma
0.070 GeneticVariation BEFREE We found that SNPs rs3212986 (odds ratio [OR] = 1.35 (1.08-1.68), P = .008), rs13181 (OR = 1.18 (1.06-1.31), P = .002), and rs25487 (OR = 1.12 (1.03-1.22), P = .007) in DNA repair genes ERCC1, ERCC2 (XPD), and XRCC1 may increase the risk of glioma, while polymorphisms rs1136410 (OR = 0.78 (0.68-0.89), P = .0004) and rs12917 (OR = 0.84 (0.73-0.96), P = .01) in PARP1(ADPRT) and MGMT are associated with decreased susceptibility to glioma. 24500421 2014
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0017638
Disease:
Glioma
0.070 GeneticVariation BEFREE Subgroup analysis showed that the ERCC1 rs3212986 AA genotype was significantly associated with an increased risk of glioma in the Chinese population (odds ratio = 1.37, 95% confidence interval = 1.07-1.55), but no association in Caucasian Chinese. 25867436 2015
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0009402
Disease:
Colorectal Carcinoma
0.060 GeneticVariation BEFREE In this case-control study, ERCC1 rs11615 and rs3212986 genotypes and their interaction with consumption of cigarettes and alcohol in determining CRC risk were investigated among 362 CRC patients and 362 age- and gender-matched healthy controls. 28476796 2017
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.060 GeneticVariation BEFREE Our meta-analysis indicated that the <i>ERCC1</i> rs3212986 A/C polymorphism was not associated with response to chemotherapy or overall survival time in GC. 29302191 2018
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0009402
Disease:
Colorectal Carcinoma
0.060 GeneticVariation BEFREE Interestingly, an analysis combining both ERCC1 rs3212986 and MLH3 rs108621 also showed an increased risk of CRC. 29516665 2018
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0699791
Disease:
Stomach Carcinoma
0.060 GeneticVariation BEFREE We conducted a prospective study to analyze whether ERCC1 rs11615 and rs3212986 and ERCC2 rs13181 and rs1799793 gene polymorphisms could serve as potential biomarkers for the prognosis of gastric cancer. 26823845 2015
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0009402
Disease:
Colorectal Carcinoma
0.060 GeneticVariation BEFREE However, we did not observe any association between the colorectal cancer risk and the rs3212986(ERCC1) and rs17655(ERCC5) polymorphisms. 31568607 2019
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0699791
Disease:
Stomach Carcinoma
0.060 GeneticVariation BEFREE We performed a study to investigate the role of ERCC1 (rs11615, rs2298881, and rs3212986) and ERCC2 (rs13181, rs238406, and rs1799793) polymorphisms in the prognosis of gastric cancer. 26782397 2015
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.060 GeneticVariation BEFREE Compared with CC genotype, AA genotype of ERCC1 rs3212986 was a high-risk factor for NSCLC (OR = 3.246; 95%CI: 1.375-7.663). 30453383 2018
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0699791
Disease:
Stomach Carcinoma
0.060 GeneticVariation BEFREE In conclusion, our finding suggests that ERCC1 rs3212986 and ERCC2 rs13181 gene polymorphism could influence the response to chemotherapy and clinical outcome of gastric cancer. 26191265 2015