All Snps(Total Genotypes:54) |
|---|
| snpId |
pubmedId |
geneId |
geneSymbol |
diseaseId |
sourceId |
sentence |
score |
Year |
geneSymbol_dbSNP |
CHROMOSOME |
POS |
REF |
ALT |
| rs1042522 | 20512840 | 7157 | TP53 | umls:C0008626 | BeFree | Association between TP53 gene ARG72PRO polymorphism and chromosome aberrations in human cancers. | 0.01737228 | 2010 | TP53 | 17 | 7676154 | G | T,C |
| rs1052133 | 21858514 | 2073 | ERCC5 | umls:C0008626 | 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. | 0.000814326 | 2012 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 21858514 | 2068 | ERCC2 | umls:C0008626 | 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. | 0.002442977 | 2012 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs1052133 | 21858514 | 7508 | XPC | umls:C0008626 | 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. | 0.001628651 | 2012 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs113488022 | 22558328 | 8030 | CCDC6 | umls:C0008626 | BeFree | However, in oncogene-positive cases (BRAF(V600E) and RET/PTC1), tumors with CNA/UPD were less frequent (5/15, 33%), whereas tumors with CNA/UPD were more frequent in oncogene-negative cases (7/10, 70%), suggesting that chromosomal aberrations may play a role in the development of PTC, especially in oncogene-negative tumors. | 0.000542884 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22558328 | 5727 | PTCH1 | umls:C0008626 | BeFree | However, in oncogene-positive cases (BRAF(V600E) and RET/PTC1), tumors with CNA/UPD were less frequent (5/15, 33%), whereas tumors with CNA/UPD were more frequent in oncogene-negative cases (7/10, 70%), suggesting that chromosomal aberrations may play a role in the development of PTC, especially in oncogene-negative tumors. | 0.000814326 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22558328 | 2158 | F9 | umls:C0008626 | BeFree | However, in oncogene-positive cases (BRAF(V600E) and RET/PTC1), tumors with CNA/UPD were less frequent (5/15, 33%), whereas tumors with CNA/UPD were more frequent in oncogene-negative cases (7/10, 70%), suggesting that chromosomal aberrations may play a role in the development of PTC, especially in oncogene-negative tumors. | 0.000542884 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22558328 | 5979 | RET | umls:C0008626 | BeFree | However, in oncogene-positive cases (BRAF(V600E) and RET/PTC1), tumors with CNA/UPD were less frequent (5/15, 33%), whereas tumors with CNA/UPD were more frequent in oncogene-negative cases (7/10, 70%), suggesting that chromosomal aberrations may play a role in the development of PTC, especially in oncogene-negative tumors. | 0.001357209 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22558328 | 673 | BRAF | umls:C0008626 | BeFree | However, in oncogene-positive cases (BRAF(V600E) and RET/PTC1), tumors with CNA/UPD were less frequent (5/15, 33%), whereas tumors with CNA/UPD were more frequent in oncogene-negative cases (7/10, 70%), suggesting that chromosomal aberrations may play a role in the development of PTC, especially in oncogene-negative tumors. | 0.000542884 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22558328 | 5726 | TAS2R38 | umls:C0008626 | BeFree | However, in oncogene-positive cases (BRAF(V600E) and RET/PTC1), tumors with CNA/UPD were less frequent (5/15, 33%), whereas tumors with CNA/UPD were more frequent in oncogene-negative cases (7/10, 70%), suggesting that chromosomal aberrations may play a role in the development of PTC, especially in oncogene-negative tumors. | 0.000542884 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs11540654 | 20512840 | 7157 | TP53 | umls:C0008626 | BeFree | Association between TP53 gene ARG72PRO polymorphism and chromosome aberrations in human cancers. | 0.01737228 | 2010 | TP53 | 17 | 7676040 | C | T,G,A |
| rs13181 | 14729591 | 2073 | ERCC5 | umls:C0008626 | 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. | 0.000814326 | 2004 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 19484764 | 7515 | XRCC1 | umls:C0008626 | BeFree | Moreover, the clearest differences were found for rs13181 in ERCC2 and rs25487 in XRCC1 between CLL patients with unfavorable cytogenetic aberrations and controls. | 0.004614512 | 2009 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 14729591 | 7517 | XRCC3 | umls:C0008626 | 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. | 0.002985861 | 2004 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 21858514 | 2068 | ERCC2 | umls:C0008626 | 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. | 0.002442977 | 2012 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 14729591 | 7515 | XRCC1 | umls:C0008626 | 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. | 0.004614512 | 2004 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 21858514 | 7508 | XPC | umls:C0008626 | 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. | 0.001628651 | 2012 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 21858514 | 2073 | ERCC5 | umls:C0008626 | 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. | 0.000814326 | 2012 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 14729591 | 7508 | XPC | umls:C0008626 | 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. | 0.001628651 | 2004 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs17655 | 14729591 | 7515 | XRCC1 | umls:C0008626 | 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. | 0.004614512 | 2004 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 14729591 | 2073 | ERCC5 | umls:C0008626 | 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. | 0.000814326 | 2004 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 14729591 | 7508 | XPC | umls:C0008626 | 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. | 0.001628651 | 2004 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 14729591 | 7517 | XRCC3 | umls:C0008626 | 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. | 0.002985861 | 2004 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs2228001 | 21858514 | 2073 | ERCC5 | umls:C0008626 | 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. | 0.000814326 | 2012 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 14729591 | 7517 | XRCC3 | umls:C0008626 | 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. | 0.002985861 | 2004 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 14729591 | 7515 | XRCC1 | umls:C0008626 | 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. | 0.004614512 | 2004 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 21858514 | 7508 | XPC | umls:C0008626 | 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. | 0.001628651 | 2012 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 14729591 | 2073 | ERCC5 | umls:C0008626 | 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. | 0.000814326 | 2004 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 21858514 | 2068 | ERCC2 | umls:C0008626 | 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. | 0.002442977 | 2012 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 14729591 | 7508 | XPC | umls:C0008626 | 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. | 0.001628651 | 2004 | XPC | 3 | 14145949 | G | T |
| rs25487 | 14729591 | 7517 | XRCC3 | umls:C0008626 | 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. | 0.002985861 | 2004 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 20652227 | 7515 | XRCC1 | umls:C0008626 | 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. | 0.004614512 | 2010 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 21858514 | 7515 | XRCC1 | umls:C0008626 | 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). | 0.004614512 | 2012 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 21858514 | 2073 | ERCC5 | umls:C0008626 | 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. | 0.000814326 | 2012 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 21858514 | 7508 | XPC | umls:C0008626 | 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. | 0.001628651 | 2012 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 14729591 | 7508 | XPC | umls:C0008626 | 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. | 0.001628651 | 2004 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 18987609 | 7515 | XRCC1 | umls:C0008626 | BeFree | The highest frequency of total chromosomal aberrations was recorded in individuals with homozygous variant Gln/Gln cariers (2.14%) in XRCC1* Arg-399Gln and the lowest in those with the wild-type Arg/Arg cariers (1.33%). | 0.004614512 | 2008 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 19484764 | 7515 | XRCC1 | umls:C0008626 | BeFree | Moreover, the clearest differences were found for rs13181 in ERCC2 and rs25487 in XRCC1 between CLL patients with unfavorable cytogenetic aberrations and controls. | 0.004614512 | 2009 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 14729591 | 2073 | ERCC5 | umls:C0008626 | 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. | 0.000814326 | 2004 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 14729591 | 7515 | XRCC1 | umls:C0008626 | 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. | 0.004614512 | 2004 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 21858514 | 2068 | ERCC2 | umls:C0008626 | 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. | 0.002442977 | 2012 | XRCC1 | 19 | 43551574 | T | C |
| rs28904921 | 17001622 | 472 | ATM | umls:C0008626 | BeFree | We found no consistent cytotoxicity or abrogation of ATM kinase activity after IR in seven heterozygous V2424G LCLs, compared to wild-type LCLs, but did find an increase in the number of chromosomal aberrations. | 0.005428837 | 2006 | ATM | 11 | 108329202 | T | G |
| rs28934578 | 25059482 | 7157 | TP53 | umls:C0008626 | BeFree | Moreover, we noted an association between some chromosomal abnormalities and telomere elongation in the mutant TP53-R175H. | 0.01737228 | 2014 | TP53 | 17 | 7675088 | C | T,A |
| rs386493716 | 14729591 | 7517 | XRCC3 | umls:C0008626 | 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. | 0.002985861 | 2004 | NA | NA | NA | NA | NA |
| rs386493716 | 21858514 | 7515 | XRCC1 | umls:C0008626 | 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). | 0.004614512 | 2012 | NA | NA | NA | NA | NA |
| rs386493716 | 14729591 | 7508 | XPC | umls:C0008626 | 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. | 0.001628651 | 2004 | NA | NA | NA | NA | NA |
| rs386493716 | 21858514 | 7508 | XPC | umls:C0008626 | 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. | 0.001628651 | 2012 | NA | NA | NA | NA | NA |
| rs386493716 | 14729591 | 2073 | ERCC5 | umls:C0008626 | 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. | 0.000814326 | 2004 | NA | NA | NA | NA | NA |
| rs386493716 | 21858514 | 2073 | ERCC5 | umls:C0008626 | 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. | 0.000814326 | 2012 | NA | NA | NA | NA | NA |
| rs386493716 | 18987609 | 7515 | XRCC1 | umls:C0008626 | BeFree | The highest frequency of total chromosomal aberrations was recorded in individuals with homozygous variant Gln/Gln cariers (2.14%) in XRCC1* Arg-399Gln and the lowest in those with the wild-type Arg/Arg cariers (1.33%). | 0.004614512 | 2008 | NA | NA | NA | NA | NA |
| rs386493716 | 14729591 | 7515 | XRCC1 | umls:C0008626 | 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. | 0.004614512 | 2004 | NA | NA | NA | NA | NA |
| rs386493716 | 20652227 | 7515 | XRCC1 | umls:C0008626 | 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. | 0.004614512 | 2010 | NA | NA | NA | NA | NA |
| rs386493716 | 21858514 | 2068 | ERCC2 | umls:C0008626 | 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. | 0.002442977 | 2012 | NA | NA | NA | NA | NA |
| rs61754966 | 24830725 | 4683 | NBN | umls:C0008626 | BeFree | In earlier work, we had identified a remarkable number of structural chromosomal aberrations in a patient with pediatric aplastic anemia with a homozygous polymorphic variant of NBS1-I171V; however, it was unclear whether this variant affected DSB repair activity or chromosomal instability. | 0.001085767 | 2014 | NBN | 8 | 89978293 | T | C |
