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: rs997050266
rs997050266
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0007103
Disease:
Malignant neoplasm of endometrium
0.010 GeneticVariation BEFREE Carriage of at least one variant allele for XPA G23A was associated with decreased risk of endometrial cancer [odds ratio (OR), 0.70; 95% confidence interval (95% CI), 0.53-0.93]. 16284373 2005
dbSNP: rs997050266
rs997050266
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0476089
Disease:
Endometrial Carcinoma
0.010 GeneticVariation BEFREE Carriage of at least one variant allele for XPA G23A was associated with decreased risk of endometrial cancer [odds ratio (OR), 0.70; 95% confidence interval (95% CI), 0.53-0.93]. 16284373 2005
dbSNP: rs1362623672
rs1362623672
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE To evaluate the effect of genetic variations on chemotherapy and/or radiotherapy, we genotyped four single nucleotide polymorphisms (SNPs) in ATM (A60G), ERCC1 (Asn118Asn), APE1 (Asn148Glu), and iASPP (A67T), and examined their associations with treatment response among patients with advanced non-small cell lung cancer (NSCLC). 17222938 2007
dbSNP: rs121913028
rs121913028
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1853100
Disease:
CEREBROOCULOFACIOSKELETAL SYNDROME 4
0.800 GeneticVariation UNIPROT First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. 17273966 2007
dbSNP: rs3212948
rs3212948
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.020 GeneticVariation BEFREE We found that the variant genotypes of the rs3212948 C allele were associated with significantly decreased risk of lung cancer [adjusted odds ratio (OR)=0.73 (95% CI=0.60-0.88) for CG; 0.96 (95% CI=0.65-1.41) for CC and 0.76 (95% CI=0.63-0.91) for CG/CC, compared with the GG genotype]. 17502833 2007
dbSNP: rs3212948
rs3212948
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.020 GeneticVariation BEFREE We found that the variant genotypes of the rs3212948 C allele were associated with significantly decreased risk of lung cancer [adjusted odds ratio (OR)=0.73 (95% CI=0.60-0.88) for CG; 0.96 (95% CI=0.65-1.41) for CC and 0.76 (95% CI=0.63-0.91) for CG/CC, compared with the GG genotype]. 17502833 2007
dbSNP: rs3212948
rs3212948
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0684249
Disease:
Carcinoma of lung
0.020 GeneticVariation BEFREE We found that the variant genotypes of the rs3212948 C allele were associated with significantly decreased risk of lung cancer [adjusted odds ratio (OR)=0.73 (95% CI=0.60-0.88) for CG; 0.96 (95% CI=0.65-1.41) for CC and 0.76 (95% CI=0.63-0.91) for CG/CC, compared with the GG genotype]. 17502833 2007
dbSNP: rs756826500
rs756826500
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0014859
Disease:
Esophageal Neoplasms
0.010 GeneticVariation BEFREE Further, the CT genotype of the RAD23B Ala249Val was associated with increased esophageal cancer risk (OR = 1.44; 95% CI = 1.05-1.97), whereas the poly-AT-/+ genotype of the XPC intron 9 conferred a decreased risk (OR = 0.71, 95% CI = 0.51-0.97). 19270000 2009
dbSNP: rs756826500
rs756826500
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0546837
Disease:
Malignant neoplasm of esophagus
0.010 GeneticVariation BEFREE Further, the CT genotype of the RAD23B Ala249Val was associated with increased esophageal cancer risk (OR = 1.44; 95% CI = 1.05-1.97), whereas the poly-AT-/+ genotype of the XPC intron 9 conferred a decreased risk (OR = 0.71, 95% CI = 0.51-0.97). 19270000 2009
dbSNP: rs756826500
rs756826500
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0152018
Disease:
Esophageal carcinoma
0.010 GeneticVariation BEFREE Further, the CT genotype of the RAD23B Ala249Val was associated with increased esophageal cancer risk (OR = 1.44; 95% CI = 1.05-1.97), whereas the poly-AT-/+ genotype of the XPC intron 9 conferred a decreased risk (OR = 0.71, 95% CI = 0.51-0.97). 19270000 2009
dbSNP: rs11615
rs11615
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE Two polymorphisms of ERCC1, T19007C (rs11615) and C8092A (rs3212986), have been reported to affect both the carcinogenesis and the survival of the patients who received platinum-based chemotherapy, but the mechanism by which these polymorphisms influence the survival is unclear. 19361884 2010
dbSNP: rs3212986
rs3212986
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE Two polymorphisms of ERCC1, T19007C (rs11615) and C8092A (rs3212986), have been reported to affect both the carcinogenesis and the survival of the patients who received platinum-based chemotherapy, but the mechanism by which these polymorphisms influence the survival is unclear. 19361884 2010
dbSNP: rs756826500
rs756826500
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE Val-carriers of RAD23B Ala249Val had an increased cancer risk in heavy smokers (OR = 1.6, 95% CI 1.1-2.5) and high alcohol consumers (OR = 2.0, 95% CI 1.1-3.4). 19444904 2009
dbSNP: rs756826500
rs756826500
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE Val-carriers of RAD23B Ala249Val had an increased cancer risk in heavy smokers (OR = 1.6, 95% CI 1.1-2.5) and high alcohol consumers (OR = 2.0, 95% CI 1.1-3.4). 19444904 2009
dbSNP: rs1362623672
rs1362623672
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE We investigated the relationship between polymorphisms in ATM (A60G), ERCC1 (Asn118Asn), APE1 (Asn148Glu) and iASPP (A67T) and the risk of developing lung cancer. 20354815 2011
dbSNP: rs1362623672
rs1362623672
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE We investigated the relationship between polymorphisms in ATM (A60G), ERCC1 (Asn118Asn), APE1 (Asn148Glu) and iASPP (A67T) and the risk of developing lung cancer. 20354815 2011
dbSNP: rs1362623672
rs1362623672
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE We investigated the relationship between polymorphisms in ATM (A60G), ERCC1 (Asn118Asn), APE1 (Asn148Glu) and iASPP (A67T) and the risk of developing lung cancer. 20354815 2011
dbSNP: rs735482
rs735482
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0684249
Disease:
Carcinoma of lung
0.040 GeneticVariation BEFREE In order to comprehensively capture common genetic variation in the ERCC1 gene, Caucasian data from the International HapMap project was used to assess linkage disequilibrium and choose four tagSNPs (rs1319052, rs3212955, rs3212948, and rs735482) in the ERCC1 gene to genotype 452 lung cancer cases, 175 H&N cancer cases, and 790 healthy controls. 20863778 2011
dbSNP: rs735482
rs735482
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.040 GeneticVariation BEFREE In order to comprehensively capture common genetic variation in the ERCC1 gene, Caucasian data from the International HapMap project was used to assess linkage disequilibrium and choose four tagSNPs (rs1319052, rs3212955, rs3212948, and rs735482) in the ERCC1 gene to genotype 452 lung cancer cases, 175 H&N cancer cases, and 790 healthy controls. 20863778 2011
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 In order to comprehensively capture common genetic variation in the ERCC1 gene, Caucasian data from the International HapMap project was used to assess linkage disequilibrium and choose four tagSNPs (rs1319052, rs3212955, rs3212948, and rs735482) in the ERCC1 gene to genotype 452 lung cancer cases, 175 H&N cancer cases, and 790 healthy controls. 20863778 2011
dbSNP: rs735482
rs735482
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE In order to comprehensively capture common genetic variation in the ERCC1 gene, Caucasian data from the International HapMap project was used to assess linkage disequilibrium and choose four tagSNPs (rs1319052, rs3212955, rs3212948, and rs735482) in the ERCC1 gene to genotype 452 lung cancer cases, 175 H&N cancer cases, and 790 healthy controls. 20863778 2011
dbSNP: rs735482
rs735482
Entrez Id: 2067;10849
Gene Symbol: ERCC1;CD3EAP
ERCC1;CD3EAP
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE In order to comprehensively capture common genetic variation in the ERCC1 gene, Caucasian data from the International HapMap project was used to assess linkage disequilibrium and choose four tagSNPs (rs1319052, rs3212955, rs3212948, and rs735482) in the ERCC1 gene to genotype 452 lung cancer cases, 175 H&N cancer cases, and 790 healthy controls. 20863778 2011