Gene: BIVM-ERCC5 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs929424117
rs929424117
ERCC5 ; BIVM-ERCC5
0.010 GeneticVariation BEFREE Genetic investigation shows that both patients were carriers of an homozygous T to C transition at the nucleotide position c.2333, causing the leucine to proline amino acid change at the position 778 (p.Leu778Pro) of the <i>ERCC5</i> gene, and resulting in an XP-G phenotype. 30838033

2019
dbSNP: rs1047768
rs1047768
ERCC5 ; BIVM-ERCC5
0.010 GeneticVariation BEFREE We evaluated the associations between six single nucleotide polymorphisms (SNPs) in XPG (rs1047768 T>C, rs2296147 T>C, rs2227869 G>C, rs2094258 C>T, rs751402 C>T, and rs873601 G>A) and cancer risk. 28416771

2017
dbSNP: rs2227869
rs2227869
ERCC5 ; BIVM-ERCC5
0.010 GeneticVariation BEFREE We evaluated the associations between six single nucleotide polymorphisms (SNPs) in XPG (rs1047768 T>C, rs2296147 T>C, rs2227869 G>C, rs2094258 C>T, rs751402 C>T, and rs873601 G>A) and cancer risk. 28416771

2017
dbSNP: rs4150351
rs4150351
ERCC5 ; BIVM-ERCC5
0.010 GeneticVariation BEFREE These findings suggest that genetic variation in XPG/ERCC5 may not affect the risk of SCCHN, although rs4150351 C variant genotypes were associated with an increased expression of XPG/ERCC5 mRNA and nonsignificantly decreased risk of SCCHN. 22108238

2012
dbSNP: rs4150351
rs4150351
ERCC5 ; BIVM-ERCC5
0.010 GeneticVariation BEFREE Multivariate logistic regression showed that only an intronic tagging SNP (rs4150351A/C) of XPG/ERCC5 was associated with a decreased risk of SCCHN (adjusted odds ratio=0.76, 95% confidence interval=0.62-0.92 for AC vs. AA; adjusted odds ratio=0.81, 95% confidence interval=0.67-0.98 for AC/CC vs. AA), but this association was nonsignificant after corrections by the permutation test (empirical P=0.105). 22108238

2012
dbSNP: rs873601
rs873601
ERCC5 ; BIVM-ERCC5
0.020 GeneticVariation BEFREE We evaluated the associations between six single nucleotide polymorphisms (SNPs) in XPG (rs1047768 T>C, rs2296147 T>C, rs2227869 G>C, rs2094258 C>T, rs751402 C>T, and rs873601 G>A) and cancer risk. 28416771

2017
dbSNP: rs873601
rs873601
ERCC5 ; BIVM-ERCC5
0.020 GeneticVariation BEFREE Our results indicate that XPG rs873601G>A polymorphism may be associated with the risk of stomach cancer. 26820236

2016
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
0.040 GeneticVariation BEFREE Taken together, our results suggested that the <i>XPG</i> rs17655 G > C polymorphism is a low-penetrance susceptibility locus for CRC. 30899401

2019
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
0.040 GeneticVariation BEFREE This meta-analysis indicated that the <i>XPG</i> gene rs17655 G>C polymorphism was associated with increased overall cancer risk, especially the risk of gastric cancer and colorectal cancer. 29779017

2018
dbSNP: rs751402
rs751402
ERCC5 ; BIVM-ERCC5
0.040 GeneticVariation BEFREE This meta-analysis indicates that the XPG rs751402 polymorphism may be a risk factor for GC in the Chinese population. 29148016

2018
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.040 GeneticVariation BEFREE Odds ratio (OR) and 95% confidence interval (CI) were used to assess the association between XPG polymorphisms (rs751402, rs873601, and rs2296147) and cancer risk. 28796034

2017
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.040 GeneticVariation BEFREE We evaluated the associations between six single nucleotide polymorphisms (SNPs) in XPG (rs1047768 T>C, rs2296147 T>C, rs2227869 G>C, rs2094258 C>T, rs751402 C>T, and rs873601 G>A) and cancer risk. 28416771

2017
dbSNP: rs751402
rs751402
ERCC5 ; BIVM-ERCC5
0.040 GeneticVariation BEFREE Nine case-control studies involving 3540 cases and 3953 controls were included in the meta-analysis, which revealed that the XPG rs751402 polymorphism is positively associated with GC risk and could be viewed as a risk factor of GC in three genetic models. 28832189

2017
dbSNP: rs751402
rs751402
ERCC5 ; BIVM-ERCC5
0.040 GeneticVariation BEFREE Odds ratio (OR) and 95% confidence interval (CI) were used to assess the association between XPG polymorphisms (rs751402, rs873601, and rs2296147) and cancer risk. 28796034

2017
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
0.040 GeneticVariation BEFREE In conclusion, our study suggests that the rs17655 polymorphism in XPG is associated with an increased risk of gastric cancer. 27323165

2016
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.040 GeneticVariation BEFREE XPG rs2296147 polymorphism could be predictive of unfavorable prognosis of CRC patients. 26887052

2016
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
0.040 GeneticVariation BEFREE The XPG rs2296147T>C polymorphism might be a predictive factor of prognosis in cancers patients and contribute to individual treatment in the future. 27588464

2016
dbSNP: rs751402
rs751402
ERCC5 ; BIVM-ERCC5
0.040 GeneticVariation BEFREE However, we did not observe a significant association between XPG rs2094258 and rs751402 polymorphisms and development of gastric cancer. 27323165

2016
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
0.040 GeneticVariation BEFREE In conclusion, our findings suggest that XPG Asp1104His polymorphism may increase the susceptibility of CRC, especially in Asian populations. 25332048

2014
dbSNP: rs2094258
rs2094258
ERCC5 ; BIVM-ERCC5
0.050 GeneticVariation BEFREE Xeroderma pigmentosum group G rs2094258 polymorphism was associated with an increased risk of GC in a Chinese population. 29732643

2018
dbSNP: rs2094258
rs2094258
ERCC5 ; BIVM-ERCC5
0.050 GeneticVariation BEFREE We evaluated the associations between six single nucleotide polymorphisms (SNPs) in XPG (rs1047768 T>C, rs2296147 T>C, rs2227869 G>C, rs2094258 C>T, rs751402 C>T, and rs873601 G>A) and cancer risk. 28416771

2017
dbSNP: rs2094258
rs2094258
ERCC5 ; BIVM-ERCC5
0.050 GeneticVariation BEFREE We evaluated the association of five potentially functional <i>XPG</i> polymorphisms (rs2094258 C>T, rs751402 C>T, rs2296147 T>C, rs1047768 T>C, and rs873601 G>A) with gastric cancer susceptibility in 1142 gastric cancer cases and 1173 controls. 27929383

2016
dbSNP: rs2094258
rs2094258
ERCC5 ; BIVM-ERCC5
0.050 GeneticVariation BEFREE We performed this hospital-based case-control study to evaluate the association of four potentially functional XPG polymorphisms (rs2094258 C>T, rs751402 C>T, rs2296147 T>C and rs873601G>A) with stomach cancer susceptibility. 26820236

2016
dbSNP: rs2094258
rs2094258
ERCC5 ; BIVM-ERCC5
0.050 GeneticVariation BEFREE However, we did not observe a significant association between XPG rs2094258 and rs751402 polymorphisms and development of gastric cancer. 27323165

2016
dbSNP: rs121434571
rs121434571
ERCC5 ; BIVM-ERCC5
0.700 GeneticVariation UNIPROT Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress. 23255472

2013