|
rs2824215
|
|
Congenital chromosomal disease
|
|
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 |
|
rs983889
|
|
Congenital chromosomal disease
|
|
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 |
|
rs25487
|
|
Congenital chromosomal disease
|
|
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 |
|
rs759412116
|
|
Congenital chromosomal disease
|
|
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 |
|
rs927698341
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
T allele of CYP2B6 516G>T SNP may be one of the risk factors predisposing to the pathogenesis of a majority of ALL and AML, but has no relationship with B-ALL and leukemia with or without chromosome abnormalities.
|
20878158 |
2011 |
|
rs3745274
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
T allele of CYP2B6 516G>T SNP may be one of the risk factors predisposing to the pathogenesis of a majority of ALL and AML, but has no relationship with B-ALL and leukemia with or without chromosome abnormalities.
|
20878158 |
2011 |
|
rs1470755915
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
T allele of CYP2B6 516G>T SNP may be one of the risk factors predisposing to the pathogenesis of a majority of ALL and AML, but has no relationship with B-ALL and leukemia with or without chromosome abnormalities.
|
20878158 |
2011 |
|
rs863225281
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Targeted ALK(F1174L) and MYCN coexpression revealed a strong synergism in inducing neuroblastoma with minimal chromosomal aberrations, suggesting that fewer secondary hits are required for tumor induction if both oncoproteins are targeted.
|
22764207 |
2012 |
|
rs281864719
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Targeted ALK(F1174L) and MYCN coexpression revealed a strong synergism in inducing neuroblastoma with minimal chromosomal aberrations, suggesting that fewer secondary hits are required for tumor induction if both oncoproteins are targeted.
|
22764207 |
2012 |
|
rs1800566
|
|
Congenital chromosomal disease
|
|
0.010 |
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 |
|
rs25487
|
|
Congenital chromosomal disease
|
|
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 |
|
rs25487
|
|
Congenital chromosomal disease
|
|
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 |
|
rs121965059
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The homozygous (T/T) C677T polymorphism of the MTHFR gene was present at a statistically high significance in unexplained infertile men with normal karyotype, instead at no significance in explained infertile men with chromosomal abnormality or Y chromosome deletion.
|
16247718 |
2005 |
|
rs1217691063
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The homozygous (T/T) C677T polymorphism of the MTHFR gene was present at a statistically high significance in unexplained infertile men with normal karyotype, instead at no significance in explained infertile men with chromosomal abnormality or Y chromosome deletion.
|
16247718 |
2005 |
|
rs1372047743
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The mutagenic effects of phospho-Ku70 are documented by a defective S/G2 checkpoint, accelerated disappearance of γ-H2AX foci and kinetics of DNA repair resulting in an increased level of genotoxic stress-induced chromosomal aberrations.
|
26337656 |
2015 |
|
rs1042522
|
|
Congenital chromosomal disease
|
|
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 |
|
rs878854066
|
|
Congenital chromosomal disease
|
|
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 |
|
rs1131691014
|
|
Congenital chromosomal disease
|
|
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 |
|
rs150547487
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The study has revealed that the global minor allele, SLX4(Y546C), is defective in this interaction and cannot complement Fancp knockout mouse cells in mitomycin C-induced cytotoxicity or chromosomal aberrations.
|
26453996 |
2015 |
|
rs77375493
|
|
Congenital chromosomal disease
|
|
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 |
|
rs13181
|
|
Congenital chromosomal disease
|
|
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 |
|
rs17655
|
|
Congenital chromosomal disease
|
|
0.010 |
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 |
|
rs2228001
|
|
Congenital chromosomal disease
|
|
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 |
|
rs25487
|
|
Congenital chromosomal disease
|
|
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 |
|
rs759412116
|
|
Congenital chromosomal disease
|
|
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 |