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: C0027947
Disease:
Neutropenia
0.010 GeneticVariation BEFREE Patients with the A/A genotype in rs11615 of the ERCC1 gene had significantly higher risk of neutropenia (P = .0133). 31797573 2020
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0023530
Disease:
Leukopenia
0.010 GeneticVariation BEFREE Patients with the A/A genotype in rs11615 of the ERCC1 gene had significantly higher risk of neutropenia (P = .0133). 31797573 2020
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: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0345967
Disease:
Malignant mesothelioma
0.010 GeneticVariation BEFREE Interaction between ERCC1 rs11615</span> and asbestos exposure significantly influenced MM risk (OR = 3.61; 95% CI = 1.12-11.66; p = 0.032). 30893058 2019
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE In women, the rs11615 CC genotype worsened TTN (co-dominant model p = 0.008, recessive model p = 0.003) and rs13181 G allele improved the TTG (p = 0.039). 31395900 2019
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0014175
Disease:
Endometriosis
0.010 GeneticVariation BEFREE The multivariate logistic regression analysis showed that subjects carrying the ERCC1 rs11615 TT (OR = 2.04, 95% CI = 1.36-3.41), ERCC2 rs1799793 AA (OR = 1.86, 95% CI = 1.14-3.11), and ERCC6 rs2228528 AA genotypes (OR = 1.79, 95% CI = 1.13-2.83) exhibited significantly increased risks of developing endometriosis compared with their counterparts carrying the wild-type genotypes. 31373346 2019
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0235974
Disease:
Pancreatic carcinoma
0.010 GeneticVariation BEFREE The present meta-analysis showed significant associations between deoxyribonucleic acid (DNA) repair gene (X-ray repair cross-complementing group 1 (XRCC1) Arg399GIn and Arg194Trp, excision repair cross complementation 1 (ERCC1) rs11615 and rs3212986, ERCC2 rs13181) polymorphisms and PC risk. 31393355 2019
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0346647
Disease:
Malignant neoplasm of pancreas
0.010 GeneticVariation BEFREE The present meta-analysis showed significant associations between deoxyribonucleic acid (DNA) repair gene (X-ray repair cross-complementing group 1 (XRCC1) Arg399GIn and Arg194Trp, excision repair cross complementation 1 (ERCC1) rs11615 and rs3212986, ERCC2 rs13181) polymorphisms and PC risk. 31393355 2019
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0007102
Disease:
Malignant tumor of colon
0.010 GeneticVariation BEFREE In women, the rs11615 CC genotype worsened TTN (co-dominant model p = 0.008, recessive model p = 0.003) and rs13181 G allele improved the TTG (p = 0.039). 31395900 2019
dbSNP: rs3212948
rs3212948
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
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: rs3212948
rs3212948
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
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: rs3212948
rs3212948
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
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: rs3212948
rs3212948
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
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: rs3212948
rs3212948
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
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: rs3212948
rs3212948
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
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: rs3212948
rs3212948
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
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: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0919267
Disease:
ovarian neoplasm
0.010 GeneticVariation BEFREE ERCC1 rs3212986 (C/A) polymorphisms posed an increased risk for breast and ovarian cancer as whole (A vs C: OR = 1.12, 95% CI = 1.01-1.25; AA + CA vs CC: OR = 1.11, 95% CI = 1.02-1.22), and presented especially higher risk for ovarian cancer (A vs C: OR = 1.31, 95% CI = 1.05-1.63; AA vs CA + CC: OR = 1.66, 95% CI = 1.12-2.47; AA vs CC: OR = 1.72, 95% CI = 1.12-2.64). 31081240 2019
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C1140680
Disease:
Malignant neoplasm of ovary
0.010 GeneticVariation BEFREE ERCC1 rs3212986 (C/A) polymorphisms posed an increased risk for breast and ovarian cancer as whole (A vs C: OR = 1.12, 95% CI = 1.01-1.25; AA + CA vs CC: OR = 1.11, 95% CI = 1.02-1.22), and presented especially higher risk for ovarian cancer (A vs C: OR = 1.31, 95% CI = 1.05-1.63; AA vs CA + CC: OR = 1.66, 95% CI = 1.12-2.47; AA vs CC: OR = 1.72, 95% CI = 1.12-2.64). 31081240 2019
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0345967
Disease:
Malignant mesothelioma
0.010 GeneticVariation BEFREE Results ERCC1 rs3212986 polymorphism was significantly associated with a decreased risk of MM (odds ratio [OR] = 0.61; 95% confidence interval [CI] = 0.41-0.91; p = 0.014). 30893058 2019