Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0027627
Disease:
Neoplasm Metastasis
0.010 GeneticVariation BEFREE Multivariate regression analysis showed that there was a significant correlation between C8092A (rs3212986) polymorphism and metastasis, grade of the tumor, and response to treatment. 31245210 2019
dbSNP: rs735482
rs735482
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0007137
Disease:
Squamous cell carcinoma
0.010 GeneticVariation BEFREE Our findings reveal that the <i>ERCC5</i> rs17655 CC and <i>ERCC1</i> rs735482 CC genotypes were associated with an increased risk of recurrence in male patients with OSCC treated with CCRT. 30609649 2019
dbSNP: rs735482
rs735482
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;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: rs735482
rs735482
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;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: rs735482
rs735482
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;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: rs735482
rs735482
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;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: rs735482
rs735482
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;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: rs735482
rs735482
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;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: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C3539878
Disease:
Triple Negative Breast Neoplasms
0.010 GeneticVariation BEFREE Our findings firstly show that the T allele of ERCC1 rs11615 can serve as a predictive biomarker for breast cancer and TNBC. 30096175 2018
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C4086165
Disease:
Childhood Neuroblastoma
0.010 GeneticVariation BEFREE The results showed that ERCC1 rs2298881 and rs11615 predisposed to enhanced neuroblastoma risk [CA vs. AA: adjusted odds ratio (OR)=1.94, 95% confidence interval (CI)=1.30-2.89, P=0.0012; CC vs. AA: adjusted OR=2.18, 95% CI=1.45-3.26, P=0.0002 for rs2298881, and AG vs. GG: adjusted OR=1.31, 95% CI=1.02-1.69, P=0.038 for rs11615]. 29544698 2018
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C4722518
Disease:
Triple-Negative Breast Carcinoma
0.010 GeneticVariation BEFREE Our findings firstly show that the T allele of ERCC1 rs11615 can serve as a predictive biomarker for breast cancer and TNBC. 30096175 2018
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0700095
Disease:
Central neuroblastoma
0.010 GeneticVariation BEFREE The results showed that ERCC1 rs2298881 and rs11615 predisposed to enhanced neuroblastoma risk [CA vs. AA: adjusted odds ratio (OR)=1.94, 95% confidence interval (CI)=1.30-2.89, P=0.0012; CC vs. AA: adjusted OR=2.18, 95% CI=1.45-3.26, P=0.0002 for rs2298881, and AG vs. GG: adjusted OR=1.31, 95% CI=1.02-1.69, P=0.038 for rs11615]. 29544698 2018
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0027819
Disease:
Neuroblastoma
0.010 GeneticVariation BEFREE The results showed that ERCC1 rs2298881 and rs11615 predisposed to enhanced neuroblastoma risk [CA vs. AA: adjusted odds ratio (OR)=1.94, 95% confidence interval (CI)=1.30-2.89, P=0.0012; CC vs. AA: adjusted OR=2.18, 95% CI=1.45-3.26, P=0.0002 for rs2298881, and AG vs. GG: adjusted OR=1.31, 95% CI=1.02-1.69, P=0.038 for rs11615]. 29544698 2018
dbSNP: rs2298881
rs2298881
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C4086165
Disease:
Childhood Neuroblastoma
0.010 GeneticVariation BEFREE The results showed that ERCC1 rs2298881 and rs11615 predisposed to enhanced neuroblastoma risk [CA vs. AA: adjusted odds ratio (OR)=1.94, 95% confidence interval (CI)=1.30-2.89, P=0.0012; CC vs. AA: adjusted OR=2.18, 95% CI=1.45-3.26, P=0.0002 for rs2298881, and AG vs. GG: adjusted OR=1.31, 95% CI=1.02-1.69, P=0.038 for rs11615]. 29544698 2018
dbSNP: rs2298881
rs2298881
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0027819
Disease:
Neuroblastoma
0.010 GeneticVariation BEFREE The results showed that ERCC1 rs2298881 and rs11615 predisposed to enhanced neuroblastoma risk [CA vs. AA: adjusted odds ratio (OR)=1.94, 95% confidence interval (CI)=1.30-2.89, P=0.0012; CC vs. AA: adjusted OR=2.18, 95% CI=1.45-3.26, P=0.0002 for rs2298881, and AG vs. GG: adjusted OR=1.31, 95% CI=1.02-1.69, P=0.038 for rs11615]. 29544698 2018
dbSNP: rs2298881
rs2298881
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0700095
Disease:
Central neuroblastoma
0.010 GeneticVariation BEFREE The results showed that ERCC1 rs2298881 and rs11615 predisposed to enhanced neuroblastoma risk [CA vs. AA: adjusted odds ratio (OR)=1.94, 95% confidence interval (CI)=1.30-2.89, P=0.0012; CC vs. AA: adjusted OR=2.18, 95% CI=1.45-3.26, P=0.0002 for rs2298881, and AG vs. GG: adjusted OR=1.31, 95% CI=1.02-1.69, P=0.038 for rs11615]. 29544698 2018
dbSNP: rs2298881
rs2298881
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0595989
Disease:
Carcinoma of larynx
0.010 GeneticVariation BEFREE (4) After stratifying the subjects by smoking degree, the GT genotype of ERCC1-rs2298881 was associated with a significantly greater risk of laryngeal carcinoma among heavy smokers (P=0.04). 29581776 2018
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C4048328
Disease:
cervical cancer
0.010 GeneticVariation BEFREE Relationship between clinical toxicities and ERCC1 rs3212986 and XRCC3 rs861539 polymorphisms in cervical cancer patients. 28708208 2018
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C3539878
Disease:
Triple Negative Breast Neoplasms
0.010 GeneticVariation BEFREE The rs11615 and rs3212986 of ERCC1 were investigated and evaluated for their associations with susceptibility to breast cancer, especially TNBC, in Taiwan. 30096175 2018
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C4722518
Disease:
Triple-Negative Breast Carcinoma
0.010 GeneticVariation BEFREE The rs11615 and rs3212986 of ERCC1 were investigated and evaluated for their associations with susceptibility to breast cancer, especially TNBC, in Taiwan. 30096175 2018
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0302592
Disease:
Cervix carcinoma
0.010 GeneticVariation BEFREE Relationship between clinical toxicities and ERCC1 rs3212986 and XRCC3 rs861539 polymorphisms in cervical cancer patients. 28708208 2018
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0007847
Disease:
Malignant tumor of cervix
0.010 GeneticVariation BEFREE Relationship between clinical toxicities and ERCC1 rs3212986 and XRCC3 rs861539 polymorphisms in cervical cancer patients. 28708208 2018
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE Taken together, SNP rs11615 in ERCC1 gene might confer susceptibility to CAD and severity of coronary atherosclerosis in a Chinese Han population. 28743890 2017
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE We analyzed the presence of SNP rs11615 from ERCC1, rs13181 from ERCC2, and rs25487 from XRCC1 and the relationship between risk factors such as smoking, alcohol intake, hypertension, and diabetes. 27668351 2017
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0085136
Disease:
Central Nervous System Neoplasms
0.010 GeneticVariation BEFREE Results We demonstrated an association between six previously published single nucleotide polymorphisms (rs15869 [ BRCA2], rs1805389 [ LIG4], rs8079544 [ TP53], rs25489 [ XRCC1], rs1673041 [ POLD1], and rs11615 [ ERCC1]) and subsequent CNS tumors in survivors of childhood cancer. 28976792 2017