Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.800 GeneticVariation BEFREE In classification and regression tree analysis (CART), we observed a 6-fold risk for SCLC patients carrying XPA 5'UTR (M), XPD K751Q (W) (OR: 6.20; 95%CI: 2.40-16.01, p = 0.0001).Polymorphic NER genes might jointly modulate lung cancer risk through gene-gene and gene-smoking interaction. 31195348

2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.800 GeneticVariation BEFREE To analyze the relationship of GSTT1, GSTM1, XRCC1 (rs25487), ERCC1 (rs11615, rs3212986), ERCC2 (rs13181), XRCC3 (rs861539), OGG1 (rs1052133), and Alpha-1-Antitrypsin mutations (AAT) with the risk of lung cancer in never-smokers, and ascertain if there is an effect modification between these polymorphisms and residential radon exposure. 31446980

2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.800 GeneticVariation BEFREE To sum up, ERCC2-rs13181 polymorphism could be a critical factor in stimulating LC evolvement. 31337555

2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.800 GeneticVariation BEFREE We investigated associations between the risk of lung cancer in residents of the coal-mining region and polymorphisms in the genes APEX1 (rs1130409), hOGG1 (rs1052133), XRCC1 (rs25489, rs25487), XRCC2 (rs3218536), XRCC3 (rs861539), ADPRT/PARP1 (rs1136410), XPD/ERCC2 (rs13181), XPG/ERCC5 (rs17655), XPC (rs2228001), ATM (rs1801516), and NBS1 (rs1805794). 31584889

2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 GeneticVariation BEFREE To sum up, ERCC2-rs13181 polymorphism could be a critical factor in stimulating LC evolvement. 31337555

2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.100 GeneticVariation BEFREE We investigated associations between the risk of lung cancer in residents of the coal-mining region and polymorphisms in the genes APEX1 (rs1130409), hOGG1 (rs1052133), XRCC1 (rs25489, rs25487), XRCC2 (rs3218536), XRCC3 (rs861539), ADPRT/PARP1 (rs1136410), XPD/ERCC2 (rs13181), XPG/ERCC5 (rs17655), XPC (rs2228001), ATM (rs1801516), and NBS1 (rs1805794). 31584889

2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 GeneticVariation BEFREE We investigated associations between the risk of lung cancer in residents of the coal-mining region and polymorphisms in the genes APEX1 (rs1130409), hOGG1 (rs1052133), XRCC1 (rs25489, rs25487), XRCC2 (rs3218536), XRCC3 (rs861539), ADPRT/PARP1 (rs1136410), XPD/ERCC2 (rs13181), XPG/ERCC5 (rs17655), XPC (rs2228001), ATM (rs1801516), and NBS1 (rs1805794). 31584889

2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 GeneticVariation BEFREE This research aimed to study the associations between XPD (G751A, rs13181), hOGG1 (C326G, rs1052133) and XRCC4 (G1394T, rs6869366) gene polymorphisms and the risk of colorectal cancer (CRC) in a Chinese Han population. 30429230

2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.100 GeneticVariation BEFREE In classification and regression tree analysis (CART), we observed a 6-fold risk for SCLC patients carrying XPA 5'UTR (M), XPD K751Q (W) (OR: 6.20; 95%CI: 2.40-16.01, p = 0.0001).Polymorphic NER genes might jointly modulate lung cancer risk through gene-gene and gene-smoking interaction. 31195348

2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 GeneticVariation BEFREE Statistically significant correlations were identified between 4 single nucleotide polymorphisms and the breast cancer risk: rs25487 rs4987188 rs13181 and rs799917. 29209986

2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.100 GeneticVariation BEFREE To sum up, ERCC2-rs13181 polymorphism could be a critical factor in stimulating LC evolvement. 31337555

2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.100 GeneticVariation BEFREE To analyze the relationship of GSTT1, GSTM1, XRCC1 (rs25487), ERCC1 (rs11615, rs3212986), ERCC2 (rs13181), XRCC3 (rs861539), OGG1 (rs1052133), and Alpha-1-Antitrypsin mutations (AAT) with the risk of lung cancer in never-smokers, and ascertain if there is an effect modification between these polymorphisms and residential radon exposure. 31446980

2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 GeneticVariation BEFREE In classification and regression tree analysis (CART), we observed a 6-fold risk for SCLC patients carrying XPA 5'UTR (M), XPD K751Q (W) (OR: 6.20; 95%CI: 2.40-16.01, p = 0.0001).Polymorphic NER genes might jointly modulate lung cancer risk through gene-gene and gene-smoking interaction. 31195348

2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.100 GeneticVariation BEFREE To analyze the relationship of GSTT1, GSTM1, XRCC1 (rs25487), ERCC1 (rs11615, rs3212986), ERCC2 (rs13181), XRCC3 (rs861539), OGG1 (rs1052133), and Alpha-1-Antitrypsin mutations (AAT) with the risk of lung cancer in never-smokers, and ascertain if there is an effect modification between these polymorphisms and residential radon exposure. 31446980

2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 GeneticVariation BEFREE Statistically significant correlations were identified between 4 single nucleotide polymorphisms and the breast cancer risk: rs25487 rs4987188 rs13181 and rs799917. 29209986

2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		0.100 GeneticVariation BEFREE We conclude that the polymorphism of XPD Lys751Gln (rs13181) in combination with smoking contributes to increased risk of pancreatic cancer in the Chinese Han population. 29260835

2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.060 GeneticVariation BEFREE <b>Conclusion:</b> Current findings suggest that XPD Lys751Gln variant could be considered as a prognostic factor in AML. 31647372

2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.060 GeneticVariation BEFREE In addition, haplotype analysis revealed that haplotype AGG, which comprised rs13181, rs3916874 and rs238415, was associated with a 1.401-fold increase in pancreatic cancer risk (p < 0.05). 29260835

2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.060 GeneticVariation BEFREE In addition, haplotype analysis revealed that haplotype AGG, which comprised rs13181, rs3916874 and rs238415, was associated with a 1.401-fold increase in pancreatic cancer risk (p < 0.05). 29260835

2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.060 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: rs13181
rs13181
ERCC2 ; KLC3
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.060 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: rs13181
rs13181
ERCC2 ; KLC3
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.050 GeneticVariation BEFREE The <i>ERCC2</i> rs13181 A>C polymorphism and <i>XRCC3</i> rs861539 C>T polymorphism may be predictive markers for prognosis in patients with HCC. 31281357

2019
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
CUI: C0699790
Disease: Colon Carcinoma
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: rs13181
rs13181
ERCC2 ; KLC3
CUI: C0007102
Disease: Malignant tumor of colon
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: rs13181
rs13181
ERCC2 ; KLC3
CUI: C0002170
Disease: Alopecia
Alopecia 		0.010 GeneticVariation BEFREE Univariate statistical analyses revealed that patients with <i>ERCC2</i> rs13181 T/G and/or <i>CYP3A4</i> rs2740574 A/G genotypes are more likely to develop alopecia; patients with <i>ERCC2</i> rs238406 C/C genotype may develop leukopenia, and patients with <i>GSTT1</i>-null genotype could develop lymphocytopenia (III-IV). 30914949

2019