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: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0029463
Disease:
Osteosarcoma
0.100 GeneticVariation BEFREE Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs17655) and group 1 (XPA; rs3212986 and rs11615) polymorphisms were analyzed in a group of 130 homogenously treated patients with high-grade osteosarcoma, for association with event-free survival (EFS), using the Kaplan-Meier plots and log-rank test. 21826087 2012
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1332986
Disease:
Childhood Osteosarcoma
0.100 GeneticVariation BEFREE In summary, our results suggested that the ERCC1 rs11615 and rs2298881 polymorphisms play important roles in the response to chemotherapy mediated by the DNA repair pathway and in the clinical outcome of osteosarcoma. 26345951 2015
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0585442
Disease:
Osteosarcoma of bone
0.100 GeneticVariation BEFREE In summary, our results suggested that the ERCC1 rs11615 and rs2298881 polymorphisms play important roles in the response to chemotherapy mediated by the DNA repair pathway and in the clinical outcome of osteosarcoma. 26345951 2015
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0585442
Disease:
Osteosarcoma of bone
0.100 GeneticVariation BEFREE In conclusion, our findings suggest that ERCC1 rs11615 and ERCC1 rs2298881 genetic polymorphisms are significantly associated with poor response to chemotherapy and unfavourable survival of osteosarcoma. 26339355 2015
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0029463
Disease:
Osteosarcoma
0.100 GeneticVariation BEFREE In summary, our results suggested that the ERCC1 rs11615 and rs2298881 polymorphisms play important roles in the response to chemotherapy mediated by the DNA repair pathway and in the clinical outcome of osteosarcoma. 26345951 2015
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1332986
Disease:
Childhood Osteosarcoma
0.100 GeneticVariation BEFREE Haplotype containing the rs1799793-T and rs11615-T alleles was associated with a statistically increased osteosarcoma risk, OR (95% CI) = 1.47 (1.12-1.92). 28474168 2017
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0029463
Disease:
Osteosarcoma
0.100 GeneticVariation BEFREE In conclusion, our results suggest that ERCC1 rs11615 and ERCC2 rs1799793 may be useful genetic prognostic markers for osteosarcoma in a Chinese population. 26436406 2015
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0029463
Disease:
Osteosarcoma
0.100 GeneticVariation BEFREE In conclusion, our findings suggest that ERCC1 rs11615 and ERCC1 rs2298881 genetic polymorphisms are significantly associated with poor response to chemotherapy and unfavourable survival of osteosarcoma. 26339355 2015
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0585442
Disease:
Osteosarcoma of bone
0.100 GeneticVariation BEFREE Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs17655) and group 1 (XPA; rs3212986 and rs11615) polymorphisms were analyzed in a group of 130 homogenously treated patients with high-grade osteosarcoma, for association with event-free survival (EFS), using the Kaplan-Meier plots and log-rank test. 21826087 2012
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0029463
Disease:
Osteosarcoma
0.100 GeneticVariation BEFREE In conclusion, our results suggest that the ERCC1 rs11615 polymorphism might influence the response to cisplatin-based chemotherapy and affect the clinical outcome for osteosarcoma patients. 26400354 2015
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0585442
Disease:
Osteosarcoma of bone
0.100 GeneticVariation BEFREE In addition, no evidence of association was observed between prognosis in osteosarcoma and <i>ERCC1</i> rs11615, <i>ERCC1</i> rs3212986, <i>ERCC1</i> rs2298881, <i>ERCC2</i> rs13181, <i>ERCC4</i> rs1800067, and <i>ERCC5</i> rs1047768 polymorphisms. 29950854 2018
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1332986
Disease:
Childhood Osteosarcoma
0.100 GeneticVariation BEFREE The ERCC2-rs1799793 AA+AC > CC (OR=1.3428, 95% CI=1.0201; 1.7674) had an effect on the risk of osteosarcoma development, whereas, there were no significant associations among the other ERCC SNPs (ERCC1 rs3212986, ERCC1 rs11615, and ERCC2 rs13181) and osteosarcoma. 30402838 2018
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0029463
Disease:
Osteosarcoma
0.100 GeneticVariation BEFREE The ERCC2-rs1799793 AA+AC > CC (OR=1.3428, 95% CI=1.0201; 1.7674) had an effect on the risk of osteosarcoma development, whereas, there were no significant associations among the other ERCC SNPs (ERCC1 rs3212986, ERCC1 rs11615, and ERCC2 rs13181) and osteosarcoma. 30402838 2018
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1332986
Disease:
Childhood Osteosarcoma
0.100 GeneticVariation BEFREE Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs17655) and group 1 (XPA; rs3212986 and rs11615) polymorphisms were analyzed in a group of 130 homogenously treated patients with high-grade osteosarcoma, for association with event-free survival (EFS), using the Kaplan-Meier plots and log-rank test. 21826087 2012
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0029463
Disease:
Osteosarcoma
0.100 GeneticVariation BEFREE In addition, no evidence of association was observed between prognosis in osteosarcoma and <i>ERCC1</i> rs11615, <i>ERCC1</i> rs3212986, <i>ERCC1</i> rs2298881, <i>ERCC2</i> rs13181, <i>ERCC4</i> rs1800067, and <i>ERCC5</i> rs1047768 polymorphisms. 29950854 2018