Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913028
rs121913028
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1853100
Disease:
CEREBROOCULOFACIOSKELETAL SYNDROME 4
C 0.800 CausalMutation CLINVAR
dbSNP: rs121913027
rs121913027
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1853100
Disease:
CEREBROOCULOFACIOSKELETAL SYNDROME 4
A 0.700 CausalMutation CLINVAR
dbSNP: rs879255589
rs879255589
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1864761
Disease:
Thyroid Hormone Metabolism, Abnormal
C 0.700 CausalMutation CLINVAR
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: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0684249
Disease:
Carcinoma 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: 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: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1306460
Disease:
Primary 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: 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: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0684249
Disease:
Carcinoma 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: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C1306460
Disease:
Primary 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: rs3212961
rs3212961
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1306460
Disease:
Primary 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 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: C0684249
Disease:
Carcinoma 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: rs2298881
rs2298881
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1306460
Disease:
Primary 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 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: C0684249
Disease:
Carcinoma 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: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0279628
Disease:
Adenocarcinoma Of Esophagus
0.010 GeneticVariation BEFREE Analysis of ERCC1 (rs11615) gene polymorphisms reveals a significant correlation with response and survival in patients with adenocarcinoma of the esophagus treated with a neoadjuvant radiochemotherapy. 21956434 2012
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0007097
Disease:
Carcinoma
0.010 GeneticVariation BEFREE Association of ERCC1 polymorphisms (rs3212986 and rs11615) with the risk of head and neck carcinomas based on case-control studies. 26022132 2015
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0007097
Disease:
Carcinoma
0.010 GeneticVariation BEFREE Association of ERCC1 polymorphisms (rs3212986 and rs11615) with the risk of head and neck carcinomas based on case-control studies. 26022132 2015
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: rs735482
rs735482
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0684249
Disease:
Carcinoma 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: rs735482
rs735482
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C1306460
Disease:
Primary 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: C0007107
Disease:
Malignant neoplasm of larynx
0.030 GeneticVariation BEFREE By stratified analysis, ERCC1 rs11615 CC genotype and C allele were significantly associated with greatly increased risk of laryngeal cancer in ever smokers. 24563277 2014
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0595989
Disease:
Carcinoma of larynx
0.020 GeneticVariation BEFREE By stratified analysis, ERCC1 rs11615 CC genotype and C allele were significantly associated with greatly increased risk of laryngeal cancer in ever smokers. 24563277 2014
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.060 GeneticVariation BEFREE By the Cox analysis, the CC genotype of ERCC1 rs11615, AA genotype of ERCC2 rs1799793, and CC genotype of NBN rs1805794 were significantly associated with a longer overall survival (OS) of gastric cancer. 25542228 2015