Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs25487
rs25487
0.060 GeneticVariation BEFREE Significantly higher total chromosomal aberrations were detected in individuals with homozygous variant polymorphism in XRCC1 Arg399Gln gene as compared to those with heterozygous and homozygous wild-type genotypes (2.20, 1.89 and 1.48%, respectively; P = 0.01). 21858514

2012

dbSNP: rs25487
rs25487
0.060 GeneticVariation BEFREE We investigated the influence of tobacco smoke on cytogenetic parameters (chromosomal aberrations and micronuclei) and the influence of XRCC1 arg399gln polymorphism on the cytogenetic parameters of the exposed subjects. 21843798

2011

dbSNP: rs25487
rs25487
0.060 GeneticVariation BEFREE The focal aim of this study was to assess the frequency of chromosomal aberrations (CA) including chromatid type aberrations (CTA) and chromosomal type aberrations (CSA), micronucleus (MN) and XRCC1 399 Arg/Gln polymorphism in the peripheral blood lymphocytes of 27 petrol pump workers and same number of controls to explore the possible cytogenetic risk on occupational exposure to petrol vapors. 20652227

2010

dbSNP: rs25487
rs25487
0.060 GeneticVariation BEFREE Moreover, the clearest differences were found for rs13181 in ERCC2 and rs25487 in XRCC1 between CLL patients with unfavorable cytogenetic aberrations and controls. 19484764

2009

dbSNP: rs25487
rs25487
0.060 GeneticVariation BEFREE The effects of genetic polymorphisms in the NQO1 (rs1800566), MPO (rs2333227), and XRCC1 (rs25487) genes on benzene-induced chromosome abnormalities were assessed in 108 benzene-exposed workers and 33 office workers. 18214807

2008

dbSNP: rs25487
rs25487
0.060 GeneticVariation BEFREE We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XPD (exon 23 A --> C, K751Q), XPG (exon 15 G --> C, D1104H), XPC (exon 15 A --> C, K939Q), XRCC1 (exon 10 G --> A, R399Q) and XRCC3 (exon 7 C --> T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population. 14729591

2004

dbSNP: rs77375493
rs77375493
0.040 GeneticVariation BEFREE Among 50 PMF patients, CALR mutations were detected in 11 (22.0%) and were also associated with higher platelet counts (P=0.035) and trended to a lower rate of cytogenetic abnormalities (P=0.059) than the JAK2 V617F mutation. 26130950

2015

dbSNP: rs77375493
rs77375493
0.040 GeneticVariation BEFREE Cytogenetic abnormalities and molecular markers such as JAK2 V617F, ASXL1, and CALR mutations have also been identified as prognostic variables. 25189726

2014

dbSNP: rs77375493
rs77375493
0.040 GeneticVariation BEFREE We studied 176 patients, all enrolled on prospective treatment trials, for secondary chromosomal aberrations and mutations in N-/KRAS, KIT, FLT3, and JAK2 (V617F) genes. 23115274

2013

dbSNP: rs77375493
rs77375493
0.040 GeneticVariation BEFREE Translocation t(1;9) is a recurrent cytogenetic abnormality associated with progression of essential thrombocythemia patients displaying the JAK2 V617F mutation. 21376394

2011

dbSNP: rs13181
rs13181
0.030 GeneticVariation BEFREE Our study is focused on the extent of any such chromosomal aberrations with respect to chromium levels in the blood of welders as well as on the tentative modulating role of polymorphisms in DNA repair genes XPD Lys751Gln, XPG Asn114His, XPC Lys939Gln, hOGG1 Ser326Cys and XRCC1 Arg399Gln on chromosomal damage. 21858514

2012

dbSNP: rs13181
rs13181
0.030 GeneticVariation BEFREE Moreover, the clearest differences were found for rs13181 in ERCC2 and rs25487 in XRCC1 between CLL patients with unfavorable cytogenetic aberrations and controls. 19484764

2009

dbSNP: rs13181
rs13181
0.030 GeneticVariation BEFREE We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XPD (exon 23 A --> C, K751Q), XPG (exon 15 G --> C, D1104H), XPC (exon 15 A --> C, K939Q), XRCC1 (exon 10 G --> A, R399Q) and XRCC3 (exon 7 C --> T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population. 14729591

2004

dbSNP: rs1042522
rs1042522
0.020 GeneticVariation BEFREE The present study aimed to examine the frequency of chromosomal aberrations and the mitotic index in patients with chronic hepatitis B and their possible association with p53 gene exon 4 codon 72 Arg72Pro (Ex4+119 G>C; rs1042522) polymorphism. 22892830

2012

dbSNP: rs1131691014
rs1131691014
0.020 GeneticVariation BEFREE The present study aimed to examine the frequency of chromosomal aberrations and the mitotic index in patients with chronic hepatitis B and their possible association with p53 gene exon 4 codon 72 Arg72Pro (Ex4+119 G>C; rs1042522) polymorphism. 22892830

2012

dbSNP: rs2228001
rs2228001
XPC
0.020 GeneticVariation BEFREE Our study is focused on the extent of any such chromosomal aberrations with respect to chromium levels in the blood of welders as well as on the tentative modulating role of polymorphisms in DNA repair genes XPD Lys751Gln, XPG Asn114His, XPC Lys939Gln, hOGG1 Ser326Cys and XRCC1 Arg399Gln on chromosomal damage. 21858514

2012

dbSNP: rs759412116
rs759412116
0.020 GeneticVariation BEFREE Significantly higher total chromosomal aberrations were detected in individuals with homozygous variant polymorphism in XRCC1 Arg399Gln gene as compared to those with heterozygous and homozygous wild-type genotypes (2.20, 1.89 and 1.48%, respectively; P = 0.01). 21858514

2012

dbSNP: rs878854066
rs878854066
0.020 GeneticVariation BEFREE The present study aimed to examine the frequency of chromosomal aberrations and the mitotic index in patients with chronic hepatitis B and their possible association with p53 gene exon 4 codon 72 Arg72Pro (Ex4+119 G>C; rs1042522) polymorphism. 22892830

2012

dbSNP: rs1042522
rs1042522
0.020 GeneticVariation BEFREE In conclusion, the TP53 gene Arg72Pro polymorphism appreciably influence on occurrence of chromosome aberrations</span> in cancer. 20512840

2010

dbSNP: rs1131691014
rs1131691014
0.020 GeneticVariation BEFREE In conclusion, the TP53 gene Arg72Pro polymorphism appreciably influence on occurrence of chromosome aberrations</span> in cancer. 20512840

2010

dbSNP: rs878854066
rs878854066
0.020 GeneticVariation BEFREE In conclusion, the TP53 gene Arg72Pro polymorphism appreciably influence on occurrence of chromosome aberrations</span> in cancer. 20512840

2010

dbSNP: rs2228001
rs2228001
XPC
0.020 GeneticVariation BEFREE We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XPD (exon 23 A --> C, K751Q), XPG (exon 15 G --> C, D1104H), XPC (exon 15 A --> C, K939Q), XRCC1 (exon 10 G --> A, R399Q) and XRCC3 (exon 7 C --> T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population. 14729591

2004

dbSNP: rs759412116
rs759412116
0.020 GeneticVariation BEFREE We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XPD (exon 23 A --> C, K751Q), XPG (exon 15 G --> C, D1104H), XPC (exon 15 A --> C, K939Q), XRCC1 (exon 10 G --> A, R399Q) and XRCC3 (exon 7 C --> T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population. 14729591

2004

dbSNP: rs1383997
rs1383997
0.010 GeneticVariation BEFREE Replication 1 supported the association of rs1383997 (8q13.3) and rs2824215 (21q21.1) in CAtot and rs983889 (5p15.1) in CTA analysis. 30368896

2019

dbSNP: rs2824215
rs2824215
0.010 GeneticVariation BEFREE Replication 1 supported the association of rs1383997 (8q13.3) and rs2824215 (21q21.1) in CAtot and rs983889 (5p15.1) in CTA analysis. 30368896

2019