chr19:44057574:G>A Detail (hg19) (XRCC1)

Information

Genome

Assembly Position
hg19 chr19:44,057,574-44,057,574
hg38 chr19:43,553,422-43,553,422 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006297.2:c.487C>T NP_006288.2:p.Arg163Trp
Ensemble ENST00000262887.10:c.580C>T ENST00000262887.10:p.Arg194Trp
ENST00000543982.5:c.487C>T ENST00000543982.5:p.Arg163Trp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.313
ToMMo:0.312
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.307

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 194360 OMIM
HGNC 12828 HGNC
Ensembl ENSG00000073050 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62217342 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
not provided 2016-03-10 no assertion provided Non-small cell lung carcinoma somatic Detail
Benign 2020-11-02 criteria provided, single submitter not provided germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
lung non-small cell carcinoma Gemcitabine,Vinorelbine,Docetaxel B Predictive Supports Sensitivity/Response Rare Germline 4 19157633 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Nasopharyngeal carcinoma The results suggested that the Arg399Gln polymorphism of XRCC1 gene, the 1G/2G p... BeFree 25481674 Detail
0.261 Nasopharyngeal carcinoma The results suggested that the Arg399Gln polymorphism of XRCC1 gene, the 1G/2G p... BeFree 25481674 Detail
0.002 Nasopharyngeal carcinoma The results suggested that the Arg399Gln polymorphism of XRCC1 gene, the 1G/2G p... BeFree 25481674 Detail
0.123 Nasopharyngeal carcinoma The results suggested that the Arg399Gln polymorphism of XRCC1 gene, the 1G/2G p... BeFree 25481674 Detail
0.085 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.008 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.015 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.011 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
<0.001 Triple Negative Breast Neoplasms Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41... BeFree 25023197 Detail
0.002 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.009 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.019 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.001 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.004 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
<0.001 Triple Negative Breast Neoplasms Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41... BeFree 25023197 Detail
0.018 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
<0.001 Triple Negative Breast Neoplasms Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41... BeFree 25023197 Detail
0.023 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.013 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
0.002 breast carcinoma Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
<0.001 Triple Negative Breast Neoplasms Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41... BeFree 25023197 Detail
0.098 Malignant neoplasm of breast Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... BeFree 18701435 Detail
<0.001 Triple Negative Breast Neoplasms Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41... BeFree 25023197 Detail
<0.001 Triple Negative Breast Neoplasms Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R41... BeFree 25023197 Detail
<0.001 Lymphoma, Large-Cell, Follicular Compared to those with BMI &lt;25, women with BMI ≥25 had significantly increase... BeFree 23619945 Detail
0.005 Lymphoma, Non-Hodgkin Compared to those with BMI &lt;25, women with BMI ≥25 had significantly increase... BeFree 23619945 Detail
<0.001 Paroxysmal atrial tachycardia Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair gene... BeFree 16373199 Detail
0.084 Malignant neoplasm of breast Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and A... BeFree 16319991 Detail
0.008 Lymphoma, Non-Hodgkin Compared to those with BMI &lt;25, women with BMI ≥25 had significantly increase... BeFree 23619945 Detail
<0.001 Lymphoma, Large-Cell, Follicular Compared to those with BMI &lt;25, women with BMI ≥25 had significantly increase... BeFree 23619945 Detail
<0.001 Paroxysmal atrial tachycardia Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair gene... BeFree 16373199 Detail
0.006 Squamous cell carcinoma of the head and neck Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 A... BeFree 21419115 Detail
<0.001 Lymphoma, Large-Cell, Follicular Compared to those with BMI &lt;25, women with BMI ≥25 had significantly increase... BeFree 23619945 Detail
0.013 Lymphoma, Non-Hodgkin Compared to those with BMI &lt;25, women with BMI ≥25 had significantly increase... BeFree 23619945 Detail
0.018 breast carcinoma Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and A... BeFree 16319991 Detail
<0.001 Paroxysmal atrial tachycardia Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair gene... BeFree 16373199 Detail
0.008 breast carcinoma Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and A... BeFree 16319991 Detail
0.098 Malignant neoplasm of breast Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and A... BeFree 16319991 Detail
0.006 Paroxysmal atrial tachycardia Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair gene... BeFree 16373199 Detail
0.002 Squamous cell carcinoma of the head and neck Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 A... BeFree 21419115 Detail
0.006 Lymphoma, Non-Hodgkin Compared to those with BMI &lt;25, women with BMI ≥25 had significantly increase... BeFree 23619945 Detail
<0.001 Lymphoma, Large-Cell, Follicular Compared to those with BMI &lt;25, women with BMI ≥25 had significantly increase... BeFree 23619945 Detail
0.010 Glioma Our comprehensive analysis of nine SNPs in eight genes suggests that the rs73043... BeFree 23244079 Detail
0.021 Glioma Our comprehensive analysis of nine SNPs in eight genes suggests that the rs73043... BeFree 23244079 Detail
<0.001 Xeroderma Pigmentosum, Complementation Group D The germline polymorphisms studied were thymidylate synthase, (VNTR/5'UTR, 2R G&... BeFree 21570215 Detail
0.010 Xeroderma Pigmentosum, Complementation Group D The germline polymorphisms studied were thymidylate synthase, (VNTR/5'UTR, 2R G&... BeFree 21570215 Detail
<0.001 Xeroderma Pigmentosum, Complementation Group D The germline polymorphisms studied were thymidylate synthase, (VNTR/5'UTR, 2R G&... BeFree 21570215 Detail
<0.001 Xeroderma Pigmentosum, Complementation Group D The germline polymorphisms studied were thymidylate synthase, (VNTR/5'UTR, 2R G&... BeFree 21570215 Detail
0.003 Glioma In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 ... BeFree 23534771 Detail
0.021 Glioma In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 ... BeFree 23534771 Detail
0.008 meningioma In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 ... BeFree 23534771 Detail
0.008 meningioma In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 ... BeFree 23534771 Detail
0.010 Glioma In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 ... BeFree 23534771 Detail
0.003 meningioma In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 ... BeFree 23534771 Detail
<0.001 Non-small cell lung carcinoma The frequencies of several amino acid substitutions in XRCC1 (Arg194Trp, Arg280H... BeFree 11285194 Detail
0.010 Xeroderma Pigmentosum, Complementation Group D The purpose of the study was to evaluate the association between XRCC1 Arg399Gln... BeFree 24955348 Detail
0.018 Malignant neoplasm of stomach XRCC1 genetic polymorphism Arg339Gln, Arg194Trp, Arg280His and gastric cancer ri... BeFree 25335737 Detail
<0.001 Exanthema Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
0.135 adenocarcinoma The associations between the OGG1 Cys/Cys genotype and adenocarcinoma risk and b... BeFree 15840879 Detail
0.007 prostate carcinoma This is the first report on the studies of XPC and XRCC1 Arg194Trp polymorphisms... BeFree 17196815 Detail
<0.001 Nasopharyngeal carcinoma To investigate the effect of XPD Lys751Gln, XRCC1 Arg399Gln, Arg194Trp, Arg280Hi... BeFree 17630853 Detail
0.012 Non-small cell lung carcinoma The frequencies of several amino acid substitutions in XRCC1 (Arg194Trp, Arg280H... BeFree 11285194 Detail
0.006 Carcinoma, Transitional Cell XRCC1 Arg194Trp and Arg399Gln polymorphisms and arsenic methylation capacity are... BeFree 25018058 Detail
0.021 Glioma Decreased glioma risk was observed with the XRCC1 rs1799782 variant (P(trend) .0... BeFree 20150366 Detail
0.021 Cancer of Head and Neck The XRCC1 Arg194Trp and Arg280His polymorphisms in head and neck cancer suscepti... BeFree 25062722 Detail
<0.001 Lip and oral cavity carcinoma Similarly, the pseudo-haplotype of rs2040639-rs861539-rs2075685 (XRCC2-XRCC3-XRC... BeFree 18410587 Detail
0.006 Squamous cell carcinoma of the head and neck In conclusion, the result from our study provides additional evidence of an asso... BeFree 15252855 Detail
<0.001 Malignant tumor of colon The present meta-analysis suggests that the XRCC1 Arg194Trp polymorphism may mod... BeFree 23857281 Detail
0.085 Malignant neoplasm of breast Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241... BeFree 25340946 Detail
0.126 Neoplasm Metastasis Results showed that Trp/Trp genotype of XRCC1 Arg194Trp and AA genotype of ERCC1... BeFree 25690281 Detail
<0.001 Polyp of large intestine The purpose of this study was to examine the association of two genetic polymorp... BeFree 21612998 Detail
0.038 Esophageal Neoplasms Two non-synonymous polymorphisms Arg194Trp and Arg399Gln in the DNA-base excisio... BeFree 19444915 Detail
0.072 Malignant neoplasm of lung The associations between the OGG1 Cys/Cys genotype and adenocarcinoma risk and b... BeFree 15840879 Detail
0.013 Carcinoma of lung The associations between the OGG1 Cys/Cys genotype and adenocarcinoma risk and b... BeFree 15840879 Detail
0.008 stomach carcinoma XRCC1 genetic polymorphism Arg339Gln, Arg194Trp, Arg280His and gastric cancer ri... BeFree 25335737 Detail
0.003 Nasopharyngeal carcinoma In addition, our work also points out the importance of new studies for Arg194Tr... BeFree 25064613 Detail
0.006 Lupus Erythematosus, Systemic XRCC1 Arg399Gln and Arg194Trp polymorphisms and risk of systemic lupus erythemat... BeFree 24971336 Detail
<0.001 Malignant neoplasm of mouth Similarly, the pseudo-haplotype of rs2040639-rs861539-rs2075685 (XRCC2-XRCC3-XRC... BeFree 18410587 Detail
0.002 esophageal carcinoma Two non-synonymous polymorphisms Arg194Trp and Arg399Gln in the DNA-base excisio... BeFree 19444915 Detail
0.098 Malignant neoplasm of breast In addition, breast cancer risk was significantly associated with an increasing ... BeFree 14652281 Detail
0.005 Cervical Intraepithelial Neoplasia To evaluate contribution of single nucleotide polymorphisms (SNPs) of X-ray repa... BeFree 17504380 Detail
<0.001 cholangiocarcinoma We genotyped five non-synonymous single-nucleotide polymorphisms of three genes,... BeFree 24049014 Detail
<0.001 Urothelial Carcinoma XRCC1 Arg194Trp and Arg399Gln polymorphisms and arsenic methylation capacity are... BeFree 25018058 Detail
0.047 Malignant neoplasm of prostate XRCC1 Arg399Gln and Arg194Trp polymorphisms in prostate cancer risk: a meta-anal... BeFree 21647176 Detail
0.007 prostate carcinoma XRCC1 Arg399Gln and Arg194Trp polymorphisms in prostate cancer risk: a meta-anal... BeFree 21647176 Detail
0.020 Carcinoma of lung Homozygous Trp/Trp variant genotype of XRCC1 Arg194Trp polymorphism could increa... BeFree 20975374 Detail
0.008 Carcinoma of bladder XRCC1 Arg194Trp and Arg280His polymorphisms in bladder cancer susceptibility: a ... BeFree 24266849 Detail
0.098 Malignant neoplasm of breast Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241... BeFree 25340946 Detail
<0.001 Cancer of Nasopharynx In addition, our work also points out the importance of new studies for Arg194Tr... BeFree 25064613 Detail
0.001 Lip and oral cavity carcinoma XRCC1 Arg194Trp polymorphism is associated with oral cancer risk: evidence from ... BeFree 23681796 Detail
0.047 Malignant neoplasm of prostate In conclusion, the meta-analysis suggests that there is no obvious association b... BeFree 24492938 Detail
0.018 breast carcinoma The present study aimed to investigate the association between Arg194Trp (XRCC1)... BeFree 25862854 Detail
0.100 Malignant neoplasm of lung Therefore, this meta-analysis suggests that XRCC1 Arg194Trp polymorphism is asso... BeFree 23653378 Detail
<0.001 Xeroderma pigmentosum, group G Our study showed that the polymorphic status of XRCC1 194Arg/Trp might be a pred... BeFree 19157633 Detail
<0.001 Tumor Progression Our findings demonstrated that the genetic variant Arg280His in XRCC1 may contri... BeFree 23425027 Detail
0.008 Leukemia, Myelocytic, Acute XRCC1 Arg194Trp and Arg399Gln polymorphisms are significantly associated with sh... BeFree 23662987 Detail
<0.001 Spots on skin Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
0.020 Carcinoma of lung The associations between the OGG1 Cys/Cys genotype and adenocarcinoma risk and b... BeFree 15840879 Detail
0.028 Malignant neoplasm of esophagus XRCC1 Arg399Gln, Arg194Trp, and Arg280His polymorphisms in esophageal cancer ris... BeFree 23543084 Detail
<0.001 Exanthema Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
0.013 colorectal carcinoma No association between the Arg194Trp and Arg399Gln polymorphisms of the XRCC1 ge... BeFree 18806752 Detail
0.098 Malignant neoplasm of breast The present study aimed to investigate the association between Arg194Trp (XRCC1)... BeFree 25862854 Detail
0.005 diffuse large B-cell lymphoma In addition, the XRCC1 Arg194Trp polymorphism was associated with decreased NHL ... BeFree 17666372 Detail
0.038 Esophageal Neoplasms XRCC1 Arg399Gln, Arg194Trp, and Arg280His polymorphisms in esophageal cancer ris... BeFree 23543084 Detail
0.012 Non-small cell lung carcinoma We used TaqMan to genotype four SNPs (APE1 Asp148Glu, PARP1 Va1762Ala, XRCC1 Arg... BeFree 23479135 Detail
0.018 breast carcinoma XRCC1 Arg399Gln, Arg194Trp and Arg280His polymorphisms in breast cancer risk: a ... BeFree 19465687 Detail
0.018 breast carcinoma Association of the Arg194Trp and the Arg399Gln polymorphisms of the XRCC1 gene w... BeFree 23103366 Detail
0.047 Malignant neoplasm of prostate This is the first report on the studies of XPC and XRCC1 Arg194Trp polymorphisms... BeFree 17196815 Detail
<0.001 breast fibrocystic disease Variant alleles of XRCC1 Arg(194)Trp (rs1799782) and ERCC4 Arg(415)Gln (rs180006... BeFree 19124519 Detail
0.006 Malignant neoplasm of mouth Taken together, the genotypes of XRCC1 rs1799782 and XRCC2 rs2040639 DNA repair ... BeFree 25831063 Detail
0.011 breast carcinoma Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241... BeFree 25340946 Detail
0.028 Malignant neoplasm of esophagus Two non-synonymous polymorphisms Arg194Trp and Arg399Gln in the DNA-base excisio... BeFree 19444915 Detail
<0.001 Exanthema Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
0.006 Neoplasm Metastasis Results showed that Trp/Trp genotype of XRCC1 Arg194Trp and AA genotype of ERCC1... BeFree 25690281 Detail
0.003 endometriosis XRCC1 399 Arg-related genotype and allele, but not XRCC1 His107Arg, XRCC1 Trp194... BeFree 22084859 Detail
<0.001 Malignant tumor of cervix XRCC1 Arginine194Tryptophan and GGH-401Cytosine/Thymine polymorphisms are associ... BeFree 18851872 Detail
0.005 chronic lymphocytic leukemia Investigation of Arg399Gln and Arg194Trp polymorphisms of the XRCC1 (x-ray cross... BeFree 22106831 Detail
<0.001 Spots on skin Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
<0.001 Lip and oral cavity carcinoma Taken together, the genotypes of XRCC1 rs1799782 and XRCC2 rs2040639 DNA repair ... BeFree 25831063 Detail
0.100 Malignant neoplasm of lung No association between XRCC1 gene Arg194Trp polymorphism and risk of lung cancer... BeFree 24590265 Detail
<0.001 Malignant neoplasm of nasopharynx In addition, our work also points out the importance of new studies for Arg194Tr... BeFree 25064613 Detail
<0.001 Spots on skin Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
<0.001 Exanthema Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
0.001 Malignant neoplasm of thyroid Our results suggest that the XRCC1 Arg399Gln polymorphism may be associated with... BeFree 23464463 Detail
<0.001 Exanthema Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
0.100 Malignant neoplasm of lung Contrasting impact of DNA repair gene XRCC1 polymorphisms Arg399Gln and Arg194Tr... BeFree 17417947 Detail
0.013 colorectal carcinoma No association of XRCC1 polymorphisms Arg194Trp and Arg399Gln with colorectal ca... BeFree 21612998 Detail
<0.001 Malignant neoplasm of mouth Taken together, the genotypes of XRCC1 rs1799782 and XRCC2 rs2040639 DNA repair ... BeFree 25831063 Detail
0.006 Malignant neoplasm of mouth XRCC1 Arg194Trp polymorphism is associated with oral cancer risk: evidence from ... BeFree 23681796 Detail
0.001 Spots on skin Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
0.018 breast carcinoma In addition, breast cancer risk was significantly associated with an increasing ... BeFree 14652281 Detail
0.098 Malignant neoplasm of breast XRCC1 Arg399Gln, Arg194Trp and Arg280His polymorphisms in breast cancer risk: a ... BeFree 19465687 Detail
0.005 Leukemia, Lymphocytic, Acute, L1 XRCC1 Arg399Gln and Arg194Trp polymorphisms in childhood acute lymphoblastic leu... BeFree 22712837 Detail
0.008 Carcinoma of bladder A meta-analysis on XRCC1 R399Q and R194W polymorphisms, smoking and bladder canc... BeFree 18765423 Detail
0.020 Carcinoma of lung Therefore, this meta-analysis suggests that XRCC1 Arg194Trp polymorphism is asso... BeFree 23653378 Detail
0.005 Non-small cell lung carcinoma The frequencies of several amino acid substitutions in XRCC1 (Arg194Trp, Arg280H... BeFree 11285194 Detail
0.003 Thyroid Nodule Elevated thyroid nodule risks were associated with the minor alleles of RET S836... BeFree 19138047 Detail
0.062 colorectal cancer The present meta-analysis suggests that the XRCC1 Arg194Trp polymorphism may mod... BeFree 23857281 Detail
0.062 colorectal cancer No association between the Arg194Trp and Arg399Gln polymorphisms of the XRCC1 ge... BeFree 18806752 Detail
<0.001 endometriosis XRCC1 399 Arg-related genotype and allele, but not XRCC1 His107Arg, XRCC1 Trp194... BeFree 22084859 Detail
0.001 Lip and oral cavity carcinoma Taken together, the genotypes of XRCC1 rs1799782 and XRCC2 rs2040639 DNA repair ... BeFree 25831063 Detail
0.006 Malignant neoplasm of prostate This is the first report on the studies of XPC and XRCC1 Arg194Trp polymorphisms... BeFree 17196815 Detail
0.004 Non-small cell lung carcinoma We used TaqMan to genotype four SNPs (APE1 Asp148Glu, PARP1 Va1762Ala, XRCC1 Arg... BeFree 23479135 Detail
0.002 differentiated thyroid gland carcinoma Our meta-analysis suggests that XRCC1 Arg194Trp may be a risk factor for DTC dev... BeFree 24175846 Detail
<0.001 Spots on skin Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
0.018 breast carcinoma Meta-analyses based on our data and published data from studies of two single nu... BeFree 16492928 Detail
0.005 Leukemia, Lymphocytic, Acute, L1 We examined the influence of the Arg194Trp, Arg280His, and Arg399Gln polymorphis... BeFree 20013659 Detail
0.100 Malignant neoplasm of lung The associations between the OGG1 Cys/Cys genotype and adenocarcinoma risk and b... BeFree 15840879 Detail
0.062 colorectal cancer No association of XRCC1 polymorphisms Arg194Trp and Arg399Gln with colorectal ca... BeFree 21612998 Detail
0.007 Glioma The XRCC1 Arg194Trp variant affects the proliferating cell nuclear antigen( PCNA... BeFree 25227852 Detail
0.003 Malignant tumor of cervix XRCC1 Arginine194Tryptophan and GGH-401Cytosine/Thymine polymorphisms are associ... BeFree 18851872 Detail
0.001 Exanthema Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
0.003 coronary artery disease XRCC1 (rs1799782 and rs25487), XRCC3 (rs861539), MTHFR (rs1801133 and rs4846049)... BeFree 24315498 Detail
0.006 Squamous cell carcinoma of the head and neck In this study, two polymorphisms of the XRCC1 gene, Arg194Trp and Arg399Gln were... BeFree 15800678 Detail
<0.001 colon carcinoma The present meta-analysis suggests that the XRCC1 Arg194Trp polymorphism may mod... BeFree 23857281 Detail
0.002 pancreatic carcinoma Lack of association of XRCC1 rs1799782 genetic polymorphism with risk of pancrea... BeFree 24435745 Detail
<0.001 Spots on skin Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
0.008 Carcinoma of bladder XRCC1 Arg194Trp and Arg280His polymorphisms increase bladder cancer risk in Asia... BeFree 23704969 Detail
0.079 Malignant neoplasm of urinary bladder A meta-analysis on XRCC1 R399Q and R194W polymorphisms, smoking and bladder canc... BeFree 18765423 Detail
<0.001 coronary artery disease XRCC1 (rs1799782 and rs25487), XRCC3 (rs861539), MTHFR (rs1801133 and rs4846049)... BeFree 24315498 Detail
0.006 Squamous cell carcinoma of the head and neck The aim of this study was to investigate the association of XRCC1 Arg194Trp and ... BeFree 26011347 Detail
<0.001 Adenoma of large intestine Using a large sigmoidoscopy-based case-control study (753 cases and 799 controls... BeFree 15767338 Detail
0.012 Malignant neoplasm of pancreas Yet only one polymorphism, XRCC1 Arg194Trp, appears to be involved in smoking-re... BeFree 17397816 Detail
<0.001 Exanthema Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
0.002 prostate carcinoma This is the first report on the studies of XPC and XRCC1 Arg194Trp polymorphisms... BeFree 17196815 Detail
0.079 Malignant neoplasm of urinary bladder XRCC1 Arg194Trp and Arg280His polymorphisms increase bladder cancer risk in Asia... BeFree 23704969 Detail
0.005 Hodgkin Disease We observed that, in combination, allelic variants in the XPC Ala499Val, NBN Glu... BeFree 21374732 Detail
0.079 Malignant neoplasm of urinary bladder XRCC1 Arg194Trp and Arg280His polymorphisms in bladder cancer susceptibility: a ... BeFree 24266849 Detail
0.013 cervix carcinoma XRCC1 Arginine194Tryptophan and GGH-401Cytosine/Thymine polymorphisms are associ... BeFree 18851872 Detail
0.013 colorectal carcinoma The present meta-analysis suggests that the XRCC1 Arg194Trp polymorphism may mod... BeFree 23857281 Detail
0.002 pancreatic carcinoma Yet only one polymorphism, XRCC1 Arg194Trp, appears to be involved in smoking-re... BeFree 17397816 Detail
0.003 Hematologic Neoplasms Study on the association between the Arg194Trp polymorphism in the XRCC1 gene an... BeFree 24414482 Detail
0.003 cervix carcinoma XRCC1 Arginine194Tryptophan and GGH-401Cytosine/Thymine polymorphisms are associ... BeFree 18851872 Detail
0.033 adenocarcinoma The associations between the OGG1 Cys/Cys genotype and adenocarcinoma risk and b... BeFree 15840879 Detail
0.010 Xeroderma Pigmentosum, Complementation Group D Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RF... BeFree 20375340 Detail
0.002 esophageal carcinoma XRCC1 Arg399Gln, Arg194Trp, and Arg280His polymorphisms in esophageal cancer ris... BeFree 23543084 Detail
0.004 Thyroid Nodule Elevated thyroid nodule risks were associated with the minor alleles of RET S836... BeFree 19138047 Detail
0.001 Lip and oral cavity carcinoma We suggest that the Arg194Trp polymorphism in the XRCC1 gene may be a biomarker ... BeFree 19713684 Detail
0.012 Malignant neoplasm of pancreas Lack of association of XRCC1 rs1799782 genetic polymorphism with risk of pancrea... BeFree 24435745 Detail
0.020 Carcinoma of lung No association between XRCC1 gene Arg194Trp polymorphism and risk of lung cancer... BeFree 24590265 Detail
0.012 Non-small cell lung carcinoma Published data have shown conflicting results about the relationship between X-r... BeFree 22705987 Detail
0.100 Malignant neoplasm of lung Homozygous Trp/Trp variant genotype of XRCC1 Arg194Trp polymorphism could increa... BeFree 20975374 Detail
0.003 Xeroderma Pigmentosum, Complementation Group D The purpose of the study was to evaluate the association between XRCC1 Arg399Gln... BeFree 24955348 Detail
0.020 Carcinoma of lung Contrasting impact of DNA repair gene XRCC1 polymorphisms Arg399Gln and Arg194Tr... BeFree 17417947 Detail
<0.001 5,10-Methylenetetrahydrofolate reductase deficiency The present study aimed to investigate the association between Arg194Trp (XRCC1)... BeFree 25862854 Detail
0.098 Malignant neoplasm of breast Association of the Arg194Trp and the Arg399Gln polymorphisms of the XRCC1 gene w... BeFree 23103366 Detail
0.098 Malignant neoplasm of breast Meta-analyses based on our data and published data from studies of two single nu... BeFree 16492928 Detail
0.006 Malignant neoplasm of mouth We suggest that the Arg194Trp polymorphism in the XRCC1 gene may be a biomarker ... BeFree 19713684 Detail
0.008 Chronic Obstructive Airway Disease XRCC1 Arg194Trp polymorphism and risk of chronic obstructive pulmonary disease. BeFree 19821085 Detail
0.007 prostate carcinoma In conclusion, the meta-analysis suggests that there is no obvious association b... BeFree 24492938 Detail
<0.001 Squamous cell carcinoma of the head and neck In addition, the interaction of CYP2E1 (CYP2E1*5B and CYP2E1*6) with other genet... BeFree 19334053 Detail
0.008 endometriosis XRCC1 399 Arg-related genotype and allele, but not XRCC1 His107Arg, XRCC1 Trp194... BeFree 22084859 Detail
0.018 breast carcinoma Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241... BeFree 25340946 Detail
0.021 Glioma Association between the XRCC1 Arg194Trp polymorphism and glioma risk: an updated... BeFree 25227852 Detail
<0.001 Spots on skin Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... BeFree 14716779 Detail
0.006 colorectal carcinoma Using a family-based study, we investigated the role of polymorphisms in 4 BER g... BeFree 21037106 Detail
0.062 colorectal cancer Using a family-based study, we investigated the role of polymorphisms in 4 BER g... BeFree 21037106 Detail
0.013 colorectal carcinoma Using a family-based study, we investigated the role of polymorphisms in 4 BER g... BeFree 21037106 Detail
0.030 colorectal cancer Using a family-based study, we investigated the role of polymorphisms in 4 BER g... BeFree 21037106 Detail
0.007 Malignant neoplasm of breast rs1130409/T1865G (APEX1), rs1799782/T22142C (XRCC1), rs25487/G23990A (XRCC1), rs... BeFree 18669164 Detail
0.002 breast carcinoma rs1130409/T1865G (APEX1), rs1799782/T22142C (XRCC1), rs25487/G23990A (XRCC1), rs... BeFree 18669164 Detail
0.010 colorectal carcinoma In the present study, we investigated the role in colorectal cancer of single-nu... BeFree 18006925 Detail
<0.001 Hyperkeratosis Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
0.030 colorectal cancer In the present study, we investigated the role in colorectal cancer of single-nu... BeFree 18006925 Detail
<0.001 melanoma We hypothesized that common nsSNPs of BER genes, specifically ADPRT rs1136410, X... BeFree 22687647 Detail
0.058 colorectal cancer In the present study, we investigated the role in colorectal cancer of single-nu... BeFree 18006925 Detail
<0.001 Melanosis Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
0.002 Non-small cell lung carcinoma Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8... BeFree 16195237 Detail
0.010 Glioma No evidence of significant associations between ERCC2 rs1799793, OGG1 rs1052133,... BeFree 24500421 Detail
0.480 Malignant neoplasm of breast Nonetheless, published data were consistent with associations between: (a) the O... BeFree 12496039 Detail
0.007 Carcinogenesis However, we cannot exclude the possibility that the OGG1 Ser326Cys and XRCC1 Arg... BeFree 15840879 Detail
<0.001 Hyperkeratosis Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
<0.001 Melanosis Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
0.098 Malignant neoplasm of breast Nonetheless, published data were consistent with associations between: (a) the O... BeFree 12496039 Detail
<0.001 Hyperkeratosis Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
0.006 Leukoplakia We examined the association of 13 variants in eight genes (rs4646903, rs2031920,... BeFree 21741876 Detail
0.156 Non-small cell lung carcinoma Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8... BeFree 16195237 Detail
0.026 Malignant neoplasm of breast Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... BeFree 20183911 Detail
<0.001 keratosis Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
0.006 colorectal carcinoma In the present study, we investigated the role in colorectal cancer of single-nu... BeFree 18006925 Detail
<0.001 Melanosis Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
0.005 Non-small cell lung carcinoma Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8... BeFree 16195237 Detail
<0.001 Rectal Carcinoma We genotyped 1,181 controls and 311 cases (180 colon and 131 rectal cancer) for ... BeFree 20559012 Detail
0.004 Non-small cell lung carcinoma Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8... BeFree 16195237 Detail
0.006 stomach carcinoma To evaluate the association between genetic polymorphisms of X-ray repair cross-... BeFree 19147860 Detail
<0.001 Melanosis coli Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
0.002 Malignant neoplasm of stomach To evaluate the association between genetic polymorphisms of X-ray repair cross-... BeFree 19147860 Detail
0.080 breast carcinoma Nonetheless, published data were consistent with associations between: (a) the O... BeFree 12496039 Detail
<0.001 Non-small cell lung carcinoma Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8... BeFree 16195237 Detail
0.072 Malignant neoplasm of lung Both the XRCC1 Arg194Trp and Arg280His as well as the OGG1 Ser326Cys heterozygou... BeFree 17531525 Detail
0.005 breast carcinoma Nonetheless, published data were consistent with associations between: (a) the O... BeFree 12496039 Detail
0.018 breast carcinoma Nonetheless, published data were consistent with associations between: (a) the O... BeFree 12496039 Detail
<0.001 Non-small cell lung carcinoma Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8... BeFree 16195237 Detail
0.002 stomach carcinoma To evaluate the association between genetic polymorphisms of X-ray repair cross-... BeFree 19147860 Detail
0.032 Malignant neoplasm of breast Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... BeFree 20183911 Detail
0.004 breast carcinoma Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... BeFree 20183911 Detail
0.098 Malignant neoplasm of breast Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... BeFree 20183911 Detail
0.002 Non-small cell lung carcinoma Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8... BeFree 16195237 Detail
<0.001 Non-small cell lung carcinoma Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8... BeFree 16195237 Detail
0.001 Non-small cell lung carcinoma Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8... BeFree 16195237 Detail
<0.001 keratosis Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
0.001 Rectal Carcinoma We genotyped 1,181 controls and 311 cases (180 colon and 131 rectal cancer) for ... BeFree 20559012 Detail
0.018 breast carcinoma Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... BeFree 20183911 Detail
0.018 Malignant neoplasm of stomach To evaluate the association between genetic polymorphisms of X-ray repair cross-... BeFree 19147860 Detail
0.006 Carcinogenesis However, we cannot exclude the possibility that the OGG1 Ser326Cys and XRCC1 Arg... BeFree 15840879 Detail
0.005 breast carcinoma Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys ... BeFree 20183911 Detail
<0.001 Melanosis coli Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
0.008 stomach carcinoma To evaluate the association between genetic polymorphisms of X-ray repair cross-... BeFree 19147860 Detail
0.013 Carcinoma of lung Both the XRCC1 Arg194Trp and Arg280His as well as the OGG1 Ser326Cys heterozygou... BeFree 17531525 Detail
0.012 Non-small cell lung carcinoma Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8... BeFree 16195237 Detail
0.004 Non-small cell lung carcinoma Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8... BeFree 16195237 Detail
<0.001 keratosis Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
0.013 Malignant neoplasm of stomach To evaluate the association between genetic polymorphisms of X-ray repair cross-... BeFree 19147860 Detail
0.006 Leukoplakia We examined the association of 13 variants in eight genes (rs4646903, rs2031920,... BeFree 21741876 Detail
<0.001 Melanosis coli Data from a case-control study of 792 cases and 792 matched controls conducted i... BeFree 17374727 Detail
0.026 Malignant neoplasm of breast Nonetheless, published data were consistent with associations between: (a) the O... BeFree 12496039 Detail
0.004 Non-small cell lung carcinoma We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs2548... BeFree 21420246 Detail
0.019 Malignant neoplasm of breast The results indicate that the polymorphisms rs1130409 (APEX1) and rs25487 (XRCC1... BeFree 18669164 Detail
<0.001 Rash and Dermatitis Adverse Event Associated with Chemoradiation We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs2548... BeFree 21420246 Detail
<0.001 Rash and Dermatitis Adverse Event Associated with Chemoradiation We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs2548... BeFree 21420246 Detail
<0.001 Rash and Dermatitis Adverse Event Associated with Chemoradiation We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs2548... BeFree 21420246 Detail
0.005 breast carcinoma The results indicate that the polymorphisms rs1130409 (APEX1) and rs25487 (XRCC1... BeFree 18669164 Detail
0.098 Malignant neoplasm of breast The results indicate that the polymorphisms rs1130409 (APEX1) and rs25487 (XRCC1... BeFree 18669164 Detail
0.018 breast carcinoma The results indicate that the polymorphisms rs1130409 (APEX1) and rs25487 (XRCC1... BeFree 18669164 Detail
0.002 Nasopharyngeal carcinoma The results suggested that the Arg399Gln polymorphism of XRCC1 gene, the 1G/2G p... BeFree 25481674 Detail
0.003 Nasopharyngeal carcinoma The results suggested that the Arg399Gln polymorphism of XRCC1 gene, the 1G/2G p... BeFree 25481674 Detail
<0.001 Small cell carcinoma of esophagus We retrospectively examined whether there was an association between the selecte... BeFree 25374063 Detail
<0.001 Small cell carcinoma of esophagus We retrospectively examined whether there was an association between the selecte... BeFree 25374063 Detail
0.003 stomach carcinoma ADPRT Val762Ala and XRCC1 Arg194Trp polymorphisms and risk of gastric cancer in ... BeFree 22901183 Detail
<0.001 Small cell carcinoma of esophagus We retrospectively examined whether there was an association between the selecte... BeFree 25374063 Detail
<0.001 Small cell carcinoma of esophagus We retrospectively examined whether there was an association between the selecte... BeFree 25374063 Detail
0.008 stomach carcinoma ADPRT Val762Ala and XRCC1 Arg194Trp polymorphisms and risk of gastric cancer in ... BeFree 22901183 Detail
<0.001 Small cell carcinoma of esophagus We retrospectively examined whether there was an association between the selecte... BeFree 25374063 Detail
0.003 Malignant neoplasm of stomach ADPRT Val762Ala and XRCC1 Arg194Trp polymorphisms and risk of gastric cancer in ... BeFree 22901183 Detail
0.018 Malignant neoplasm of stomach ADPRT Val762Ala and XRCC1 Arg194Trp polymorphisms and risk of gastric cancer in ... BeFree 22901183 Detail
Annotation

Annotations

DescrptionSourceLinks
The XRCC1 R194W variant was shown to be correlated with increased chance of response to platinum-bas... CIViC Evidence Detail
NM_006297.3(XRCC1):c.580C>T (p.Arg194Trp) AND Non-small cell lung carcinoma ClinVar Detail
NM_006297.3(XRCC1):c.580C>T (p.Arg194Trp) AND not provided ClinVar Detail
The results suggested that the Arg399Gln polymorphism of XRCC1 gene, the 1G/2G polymorphism of MMP-1... DisGeNET Detail
The results suggested that the Arg399Gln polymorphism of XRCC1 gene, the 1G/2G polymorphism of MMP-1... DisGeNET Detail
The results suggested that the Arg399Gln polymorphism of XRCC1 gene, the 1G/2G polymorphism of MMP-1... DisGeNET Detail
The results suggested that the Arg399Gln polymorphism of XRCC1 gene, the 1G/2G polymorphism of MMP-1... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3... DisGeNET Detail
Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing c... DisGeNET Detail
Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3... DisGeNET Detail
Our results suggest that TNBC was associated with 6 DNA-repair nsSNPs, ERCC4 R415Q (rs1800067), MSH3... DisGeNET Detail
Compared to those with BMI &lt;25, women with BMI ≥25 had significantly increased risk of NHL among ... DisGeNET Detail
Compared to those with BMI &lt;25, women with BMI ≥25 had significantly increased risk of NHL among ... DisGeNET Detail
Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair genes were investigated:... DisGeNET Detail
Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): relations... DisGeNET Detail
Compared to those with BMI &lt;25, women with BMI ≥25 had significantly increased risk of NHL among ... DisGeNET Detail
Compared to those with BMI &lt;25, women with BMI ≥25 had significantly increased risk of NHL among ... DisGeNET Detail
Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair genes were investigated:... DisGeNET Detail
Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782)... DisGeNET Detail
Compared to those with BMI &lt;25, women with BMI ≥25 had significantly increased risk of NHL among ... DisGeNET Detail
Compared to those with BMI &lt;25, women with BMI ≥25 had significantly increased risk of NHL among ... DisGeNET Detail
Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): relations... DisGeNET Detail
Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair genes were investigated:... DisGeNET Detail
Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): relations... DisGeNET Detail
Polymorphisms of the DNA repair genes XPD (Lys751Gln) and XRCC1 (Arg399Gln and Arg194Trp): relations... DisGeNET Detail
Nine known single nucleotide polymorphisms (SNPs) in five common DNA repair genes were investigated:... DisGeNET Detail
Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782)... DisGeNET Detail
Compared to those with BMI &lt;25, women with BMI ≥25 had significantly increased risk of NHL among ... DisGeNET Detail
Compared to those with BMI &lt;25, women with BMI ≥25 had significantly increased risk of NHL among ... DisGeNET Detail
Our comprehensive analysis of nine SNPs in eight genes suggests that the rs730437 and rs1468727 in E... DisGeNET Detail
Our comprehensive analysis of nine SNPs in eight genes suggests that the rs730437 and rs1468727 in E... DisGeNET Detail
The germline polymorphisms studied were thymidylate synthase, (VNTR/5'UTR, 2R G&gt;C single nucleoti... DisGeNET Detail
The germline polymorphisms studied were thymidylate synthase, (VNTR/5'UTR, 2R G&gt;C single nucleoti... DisGeNET Detail
The germline polymorphisms studied were thymidylate synthase, (VNTR/5'UTR, 2R G&gt;C single nucleoti... DisGeNET Detail
The germline polymorphisms studied were thymidylate synthase, (VNTR/5'UTR, 2R G&gt;C single nucleoti... DisGeNET Detail
In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 ... DisGeNET Detail
In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 ... DisGeNET Detail
In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 ... DisGeNET Detail
In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 ... DisGeNET Detail
In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 ... DisGeNET Detail
In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 ... DisGeNET Detail
The frequencies of several amino acid substitutions in XRCC1 (Arg194Trp, Arg280His and Arg399Gln), X... DisGeNET Detail
The purpose of the study was to evaluate the association between XRCC1 Arg399Gln, Arg280His and Arg1... DisGeNET Detail
XRCC1 genetic polymorphism Arg339Gln, Arg194Trp, Arg280His and gastric cancer risk: an evidence base... DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
The associations between the OGG1 Cys/Cys genotype and adenocarcinoma risk and between XRCC1 Arg194T... DisGeNET Detail
This is the first report on the studies of XPC and XRCC1 Arg194Trp polymorphisms in PC, and our pres... DisGeNET Detail
To investigate the effect of XPD Lys751Gln, XRCC1 Arg399Gln, Arg194Trp, Arg280His, and XRCC3 Thr241M... DisGeNET Detail
The frequencies of several amino acid substitutions in XRCC1 (Arg194Trp, Arg280His and Arg399Gln), X... DisGeNET Detail
XRCC1 Arg194Trp and Arg399Gln polymorphisms and arsenic methylation capacity are associated with uro... DisGeNET Detail
Decreased glioma risk was observed with the XRCC1 rs1799782 variant (P(trend) .04). DisGeNET Detail
The XRCC1 Arg194Trp and Arg280His polymorphisms in head and neck cancer susceptibility: a meta-analy... DisGeNET Detail
Similarly, the pseudo-haplotype of rs2040639-rs861539-rs2075685 (XRCC2-XRCC3-XRCC4) and rs2040639-rs... DisGeNET Detail
In conclusion, the result from our study provides additional evidence of an association of the XRCC1... DisGeNET Detail
The present meta-analysis suggests that the XRCC1 Arg194Trp polymorphism may modify the risk for CRC... DisGeNET Detail
Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241Met) polymorphisms w... DisGeNET Detail
Results showed that Trp/Trp genotype of XRCC1 Arg194Trp and AA genotype of ERCC1 rs2336219 have a si... DisGeNET Detail
The purpose of this study was to examine the association of two genetic polymorphisms in XRCC1 (rs17... DisGeNET Detail
Two non-synonymous polymorphisms Arg194Trp and Arg399Gln in the DNA-base excision repair gene X-ray ... DisGeNET Detail
The associations between the OGG1 Cys/Cys genotype and adenocarcinoma risk and between XRCC1 Arg194T... DisGeNET Detail
The associations between the OGG1 Cys/Cys genotype and adenocarcinoma risk and between XRCC1 Arg194T... DisGeNET Detail
XRCC1 genetic polymorphism Arg339Gln, Arg194Trp, Arg280His and gastric cancer risk: an evidence base... DisGeNET Detail
In addition, our work also points out the importance of new studies for Arg194Trp association in som... DisGeNET Detail
XRCC1 Arg399Gln and Arg194Trp polymorphisms and risk of systemic lupus erythematosus in an Iranian p... DisGeNET Detail
Similarly, the pseudo-haplotype of rs2040639-rs861539-rs2075685 (XRCC2-XRCC3-XRCC4) and rs2040639-rs... DisGeNET Detail
Two non-synonymous polymorphisms Arg194Trp and Arg399Gln in the DNA-base excision repair gene X-ray ... DisGeNET Detail
In addition, breast cancer risk was significantly associated with an increasing number of combined v... DisGeNET Detail
To evaluate contribution of single nucleotide polymorphisms (SNPs) of X-ray repair cross-complementi... DisGeNET Detail
We genotyped five non-synonymous single-nucleotide polymorphisms of three genes, including the human... DisGeNET Detail
XRCC1 Arg194Trp and Arg399Gln polymorphisms and arsenic methylation capacity are associated with uro... DisGeNET Detail
XRCC1 Arg399Gln and Arg194Trp polymorphisms in prostate cancer risk: a meta-analysis. DisGeNET Detail
XRCC1 Arg399Gln and Arg194Trp polymorphisms in prostate cancer risk: a meta-analysis. DisGeNET Detail
Homozygous Trp/Trp variant genotype of XRCC1 Arg194Trp polymorphism could increase lung cancer risk ... DisGeNET Detail
XRCC1 Arg194Trp and Arg280His polymorphisms in bladder cancer susceptibility: a meta-analysis. DisGeNET Detail
Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241Met) polymorphisms w... DisGeNET Detail
In addition, our work also points out the importance of new studies for Arg194Trp association in som... DisGeNET Detail
XRCC1 Arg194Trp polymorphism is associated with oral cancer risk: evidence from a meta-analysis. DisGeNET Detail
In conclusion, the meta-analysis suggests that there is no obvious association between XRCC1 Arg194T... DisGeNET Detail
The present study aimed to investigate the association between Arg194Trp (XRCC1), Ala222Val (MTHFR) ... DisGeNET Detail
Therefore, this meta-analysis suggests that XRCC1 Arg194Trp polymorphism is associated with increase... DisGeNET Detail
Our study showed that the polymorphic status of XRCC1 194Arg/Trp might be a predictive marker of tre... DisGeNET Detail
Our findings demonstrated that the genetic variant Arg280His in XRCC1 may contribute to cancer progr... DisGeNET Detail
XRCC1 Arg194Trp and Arg399Gln polymorphisms are significantly associated with shorter survival in ac... DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
The associations between the OGG1 Cys/Cys genotype and adenocarcinoma risk and between XRCC1 Arg194T... DisGeNET Detail
XRCC1 Arg399Gln, Arg194Trp, and Arg280His polymorphisms in esophageal cancer risk: a meta-analysis. DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
No association between the Arg194Trp and Arg399Gln polymorphisms of the XRCC1 gene and colorectal ca... DisGeNET Detail
The present study aimed to investigate the association between Arg194Trp (XRCC1), Ala222Val (MTHFR) ... DisGeNET Detail
In addition, the XRCC1 Arg194Trp polymorphism was associated with decreased NHL risk (Arg/Trp vs. Ar... DisGeNET Detail
XRCC1 Arg399Gln, Arg194Trp, and Arg280His polymorphisms in esophageal cancer risk: a meta-analysis. DisGeNET Detail
We used TaqMan to genotype four SNPs (APE1 Asp148Glu, PARP1 Va1762Ala, XRCC1 Arg194Trp and XRCC1 Arg... DisGeNET Detail
XRCC1 Arg399Gln, Arg194Trp and Arg280His polymorphisms in breast cancer risk: a meta-analysis. DisGeNET Detail
Association of the Arg194Trp and the Arg399Gln polymorphisms of the XRCC1 gene with risk occurrence ... DisGeNET Detail
This is the first report on the studies of XPC and XRCC1 Arg194Trp polymorphisms in PC, and our pres... DisGeNET Detail
Variant alleles of XRCC1 Arg(194)Trp (rs1799782) and ERCC4 Arg(415)Gln (rs1800067) were significantl... DisGeNET Detail
Taken together, the genotypes of XRCC1 rs1799782 and XRCC2 rs2040639 DNA repair genes appear to be s... DisGeNET Detail
Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241Met) polymorphisms w... DisGeNET Detail
Two non-synonymous polymorphisms Arg194Trp and Arg399Gln in the DNA-base excision repair gene X-ray ... DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
Results showed that Trp/Trp genotype of XRCC1 Arg194Trp and AA genotype of ERCC1 rs2336219 have a si... DisGeNET Detail
XRCC1 399 Arg-related genotype and allele, but not XRCC1 His107Arg, XRCC1 Trp194Arg, KCNQ2, AT1R, an... DisGeNET Detail
XRCC1 Arginine194Tryptophan and GGH-401Cytosine/Thymine polymorphisms are associated with response t... DisGeNET Detail
Investigation of Arg399Gln and Arg194Trp polymorphisms of the XRCC1 (x-ray cross-complementing group... DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
Taken together, the genotypes of XRCC1 rs1799782 and XRCC2 rs2040639 DNA repair genes appear to be s... DisGeNET Detail
No association between XRCC1 gene Arg194Trp polymorphism and risk of lung cancer: evidence based on ... DisGeNET Detail
In addition, our work also points out the importance of new studies for Arg194Trp association in som... DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
Our results suggest that the XRCC1 Arg399Gln polymorphism may be associated with decreased thyroid c... DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
Contrasting impact of DNA repair gene XRCC1 polymorphisms Arg399Gln and Arg194Trp on the risk of lun... DisGeNET Detail
No association of XRCC1 polymorphisms Arg194Trp and Arg399Gln with colorectal cancer risk. DisGeNET Detail
Taken together, the genotypes of XRCC1 rs1799782 and XRCC2 rs2040639 DNA repair genes appear to be s... DisGeNET Detail
XRCC1 Arg194Trp polymorphism is associated with oral cancer risk: evidence from a meta-analysis. DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
In addition, breast cancer risk was significantly associated with an increasing number of combined v... DisGeNET Detail
XRCC1 Arg399Gln, Arg194Trp and Arg280His polymorphisms in breast cancer risk: a meta-analysis. DisGeNET Detail
XRCC1 Arg399Gln and Arg194Trp polymorphisms in childhood acute lymphoblastic leukemia risk: a meta-a... DisGeNET Detail
A meta-analysis on XRCC1 R399Q and R194W polymorphisms, smoking and bladder cancer risk. DisGeNET Detail
Therefore, this meta-analysis suggests that XRCC1 Arg194Trp polymorphism is associated with increase... DisGeNET Detail
The frequencies of several amino acid substitutions in XRCC1 (Arg194Trp, Arg280His and Arg399Gln), X... DisGeNET Detail
Elevated thyroid nodule risks were associated with the minor alleles of RET S836S (rs1800862, P = 0.... DisGeNET Detail
The present meta-analysis suggests that the XRCC1 Arg194Trp polymorphism may modify the risk for CRC... DisGeNET Detail
No association between the Arg194Trp and Arg399Gln polymorphisms of the XRCC1 gene and colorectal ca... DisGeNET Detail
XRCC1 399 Arg-related genotype and allele, but not XRCC1 His107Arg, XRCC1 Trp194Arg, KCNQ2, AT1R, an... DisGeNET Detail
Taken together, the genotypes of XRCC1 rs1799782 and XRCC2 rs2040639 DNA repair genes appear to be s... DisGeNET Detail
This is the first report on the studies of XPC and XRCC1 Arg194Trp polymorphisms in PC, and our pres... DisGeNET Detail
We used TaqMan to genotype four SNPs (APE1 Asp148Glu, PARP1 Va1762Ala, XRCC1 Arg194Trp and XRCC1 Arg... DisGeNET Detail
Our meta-analysis suggests that XRCC1 Arg194Trp may be a risk factor for DTC development. DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
Meta-analyses based on our data and published data from studies of two single nucleotide polymorphis... DisGeNET Detail
We examined the influence of the Arg194Trp, Arg280His, and Arg399Gln polymorphisms of XRCC1 (X-ray r... DisGeNET Detail
The associations between the OGG1 Cys/Cys genotype and adenocarcinoma risk and between XRCC1 Arg194T... DisGeNET Detail
No association of XRCC1 polymorphisms Arg194Trp and Arg399Gln with colorectal cancer risk. DisGeNET Detail
The XRCC1 Arg194Trp variant affects the proliferating cell nuclear antigen( PCNA) binding region, wh... DisGeNET Detail
XRCC1 Arginine194Tryptophan and GGH-401Cytosine/Thymine polymorphisms are associated with response t... DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
XRCC1 (rs1799782 and rs25487), XRCC3 (rs861539), MTHFR (rs1801133 and rs4846049), and NQO1 (rs180056... DisGeNET Detail
In this study, two polymorphisms of the XRCC1 gene, Arg194Trp and Arg399Gln were investigated in 95 ... DisGeNET Detail
The present meta-analysis suggests that the XRCC1 Arg194Trp polymorphism may modify the risk for CRC... DisGeNET Detail
Lack of association of XRCC1 rs1799782 genetic polymorphism with risk of pancreatic cancer: a meta-a... DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
XRCC1 Arg194Trp and Arg280His polymorphisms increase bladder cancer risk in Asian population: eviden... DisGeNET Detail
A meta-analysis on XRCC1 R399Q and R194W polymorphisms, smoking and bladder cancer risk. DisGeNET Detail
XRCC1 (rs1799782 and rs25487), XRCC3 (rs861539), MTHFR (rs1801133 and rs4846049), and NQO1 (rs180056... DisGeNET Detail
The aim of this study was to investigate the association of XRCC1 Arg194Trp and Arg399Gln single nuc... DisGeNET Detail
Using a large sigmoidoscopy-based case-control study (753 cases and 799 controls) in Los Angeles Cou... DisGeNET Detail
Yet only one polymorphism, XRCC1 Arg194Trp, appears to be involved in smoking-related cancers and in... DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
This is the first report on the studies of XPC and XRCC1 Arg194Trp polymorphisms in PC, and our pres... DisGeNET Detail
XRCC1 Arg194Trp and Arg280His polymorphisms increase bladder cancer risk in Asian population: eviden... DisGeNET Detail
We observed that, in combination, allelic variants in the XPC Ala499Val, NBN Glu185Gln, XRCC3 Thr241... DisGeNET Detail
XRCC1 Arg194Trp and Arg280His polymorphisms in bladder cancer susceptibility: a meta-analysis. DisGeNET Detail
XRCC1 Arginine194Tryptophan and GGH-401Cytosine/Thymine polymorphisms are associated with response t... DisGeNET Detail
The present meta-analysis suggests that the XRCC1 Arg194Trp polymorphism may modify the risk for CRC... DisGeNET Detail
Yet only one polymorphism, XRCC1 Arg194Trp, appears to be involved in smoking-related cancers and in... DisGeNET Detail
Study on the association between the Arg194Trp polymorphism in the XRCC1 gene and the risk of hemato... DisGeNET Detail
XRCC1 Arginine194Tryptophan and GGH-401Cytosine/Thymine polymorphisms are associated with response t... DisGeNET Detail
The associations between the OGG1 Cys/Cys genotype and adenocarcinoma risk and between XRCC1 Arg194T... DisGeNET Detail
Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used to ana... DisGeNET Detail
XRCC1 Arg399Gln, Arg194Trp, and Arg280His polymorphisms in esophageal cancer risk: a meta-analysis. DisGeNET Detail
Elevated thyroid nodule risks were associated with the minor alleles of RET S836S (rs1800862, P = 0.... DisGeNET Detail
We suggest that the Arg194Trp polymorphism in the XRCC1 gene may be a biomarker of oral cancer susce... DisGeNET Detail
Lack of association of XRCC1 rs1799782 genetic polymorphism with risk of pancreatic cancer: a meta-a... DisGeNET Detail
No association between XRCC1 gene Arg194Trp polymorphism and risk of lung cancer: evidence based on ... DisGeNET Detail
Published data have shown conflicting results about the relationship between X-ray repair cross-comp... DisGeNET Detail
Homozygous Trp/Trp variant genotype of XRCC1 Arg194Trp polymorphism could increase lung cancer risk ... DisGeNET Detail
The purpose of the study was to evaluate the association between XRCC1 Arg399Gln, Arg280His and Arg1... DisGeNET Detail
Contrasting impact of DNA repair gene XRCC1 polymorphisms Arg399Gln and Arg194Trp on the risk of lun... DisGeNET Detail
The present study aimed to investigate the association between Arg194Trp (XRCC1), Ala222Val (MTHFR) ... DisGeNET Detail
Association of the Arg194Trp and the Arg399Gln polymorphisms of the XRCC1 gene with risk occurrence ... DisGeNET Detail
Meta-analyses based on our data and published data from studies of two single nucleotide polymorphis... DisGeNET Detail
We suggest that the Arg194Trp polymorphism in the XRCC1 gene may be a biomarker of oral cancer susce... DisGeNET Detail
XRCC1 Arg194Trp polymorphism and risk of chronic obstructive pulmonary disease. DisGeNET Detail
In conclusion, the meta-analysis suggests that there is no obvious association between XRCC1 Arg194T... DisGeNET Detail
In addition, the interaction of CYP2E1 (CYP2E1*5B and CYP2E1*6) with other genetic factors (null gen... DisGeNET Detail
XRCC1 399 Arg-related genotype and allele, but not XRCC1 His107Arg, XRCC1 Trp194Arg, KCNQ2, AT1R, an... DisGeNET Detail
Association of DNA repair genes XRCC1 (Arg399Gln), (Arg194Trp) and XRCC3 (Thr241Met) polymorphisms w... DisGeNET Detail
Association between the XRCC1 Arg194Trp polymorphism and glioma risk: an updated meta-analysis. DisGeNET Detail
Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... DisGeNET Detail
Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His... DisGeNET Detail
Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His... DisGeNET Detail
Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His... DisGeNET Detail
Using a family-based study, we investigated the role of polymorphisms in 4 BER genes (APEX1 Gln51His... DisGeNET Detail
rs1130409/T1865G (APEX1), rs1799782/T22142C (XRCC1), rs25487/G23990A (XRCC1), rs4989588/T3337A (FEN1... DisGeNET Detail
rs1130409/T1865G (APEX1), rs1799782/T22142C (XRCC1), rs25487/G23990A (XRCC1), rs4989588/T3337A (FEN1... DisGeNET Detail
In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... DisGeNET Detail
We hypothesized that common nsSNPs of BER genes, specifically ADPRT rs1136410, XRCC1 rs25487, rs2548... DisGeNET Detail
In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8902G&gt;T), XPA (-4G... DisGeNET Detail
No evidence of significant associations between ERCC2 rs1799793, OGG1 rs1052133, XRCC1 rs25489, XRCC... DisGeNET Detail
Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant an... DisGeNET Detail
However, we cannot exclude the possibility that the OGG1 Ser326Cys and XRCC1 Arg194Trp polymorphisms... DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant an... DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
We examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 nu... DisGeNET Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8902G&gt;T), XPA (-4G... DisGeNET Detail
Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
In the present study, we investigated the role in colorectal cancer of single-nucleotide polymorphis... DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8902G&gt;T), XPA (-4G... DisGeNET Detail
We genotyped 1,181 controls and 311 cases (180 colon and 131 rectal cancer) for SNPs in the XRCC1 (A... DisGeNET Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8902G&gt;T), XPA (-4G... DisGeNET Detail
To evaluate the association between genetic polymorphisms of X-ray repair cross-complementing group ... DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
To evaluate the association between genetic polymorphisms of X-ray repair cross-complementing group ... DisGeNET Detail
Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant an... DisGeNET Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8902G&gt;T), XPA (-4G... DisGeNET Detail
Both the XRCC1 Arg194Trp and Arg280His as well as the OGG1 Ser326Cys heterozygous genotypes were ass... DisGeNET Detail
Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant an... DisGeNET Detail
Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant an... DisGeNET Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8902G&gt;T), XPA (-4G... DisGeNET Detail
To evaluate the association between genetic polymorphisms of X-ray repair cross-complementing group ... DisGeNET Detail
Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... DisGeNET Detail
Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... DisGeNET Detail
Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... DisGeNET Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8902G&gt;T), XPA (-4G... DisGeNET Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8902G&gt;T), XPA (-4G... DisGeNET Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8902G&gt;T), XPA (-4G... DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
We genotyped 1,181 controls and 311 cases (180 colon and 131 rectal cancer) for SNPs in the XRCC1 (A... DisGeNET Detail
Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... DisGeNET Detail
To evaluate the association between genetic polymorphisms of X-ray repair cross-complementing group ... DisGeNET Detail
However, we cannot exclude the possibility that the OGG1 Ser326Cys and XRCC1 Arg194Trp polymorphisms... DisGeNET Detail
Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC... DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
To evaluate the association between genetic polymorphisms of X-ray repair cross-complementing group ... DisGeNET Detail
Both the XRCC1 Arg194Trp and Arg280His as well as the OGG1 Ser326Cys heterozygous genotypes were ass... DisGeNET Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8902G&gt;T), XPA (-4G... DisGeNET Detail
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G&gt;C, 8902G&gt;T), XPA (-4G... DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
To evaluate the association between genetic polymorphisms of X-ray repair cross-complementing group ... DisGeNET Detail
We examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 nu... DisGeNET Detail
Data from a case-control study of 792 cases and 792 matched controls conducted in Bangladesh from 20... DisGeNET Detail
Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant an... DisGeNET Detail
We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs25489 [R280H], and rs254... DisGeNET Detail
The results indicate that the polymorphisms rs1130409 (APEX1) and rs25487 (XRCC1) might be involved ... DisGeNET Detail
We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs25489 [R280H], and rs254... DisGeNET Detail
We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs25489 [R280H], and rs254... DisGeNET Detail
We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs25489 [R280H], and rs254... DisGeNET Detail
The results indicate that the polymorphisms rs1130409 (APEX1) and rs25487 (XRCC1) might be involved ... DisGeNET Detail
The results indicate that the polymorphisms rs1130409 (APEX1) and rs25487 (XRCC1) might be involved ... DisGeNET Detail
The results indicate that the polymorphisms rs1130409 (APEX1) and rs25487 (XRCC1) might be involved ... DisGeNET Detail
The results suggested that the Arg399Gln polymorphism of XRCC1 gene, the 1G/2G polymorphism of MMP-1... DisGeNET Detail
The results suggested that the Arg399Gln polymorphism of XRCC1 gene, the 1G/2G polymorphism of MMP-1... DisGeNET Detail
We retrospectively examined whether there was an association between the selected six single nucleot... DisGeNET Detail
We retrospectively examined whether there was an association between the selected six single nucleot... DisGeNET Detail
ADPRT Val762Ala and XRCC1 Arg194Trp polymorphisms and risk of gastric cancer in Sichuan of China. DisGeNET Detail
We retrospectively examined whether there was an association between the selected six single nucleot... DisGeNET Detail
We retrospectively examined whether there was an association between the selected six single nucleot... DisGeNET Detail
ADPRT Val762Ala and XRCC1 Arg194Trp polymorphisms and risk of gastric cancer in Sichuan of China. DisGeNET Detail
We retrospectively examined whether there was an association between the selected six single nucleot... DisGeNET Detail
ADPRT Val762Ala and XRCC1 Arg194Trp polymorphisms and risk of gastric cancer in Sichuan of China. DisGeNET Detail
ADPRT Val762Ala and XRCC1 Arg194Trp polymorphisms and risk of gastric cancer in Sichuan of China. DisGeNET Detail
Non melanoma specific model (ovarian cancer) MMMP Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1799782 dbSNP
Genome
hg19
Position
chr19:44,057,574-44,057,574
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1208
Mean of sample read depth (HGVD)
84.28
Standard deviation of sample read depth (HGVD)
38.71
Number of reference allele (HGVD)
1660
Number of alternative allele (HGVD)
756
Allele Frequency (HGVD)
0.3129139072847682
Gene Symbol (HGVD)
XRCC1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1799782
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3121
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5231
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8628
East Asian Allele Counts (ExAC)
2652
East Asian Heterozygous Counts (ExAC)
1880
East Asian Homozygous Counts (ExAC)
386
East Asian Allele Frequency (ExAC)
0.30737134909596664
Chromosome Counts in All Race (ExAC)
121306
Allele Counts in All Race (ExAC)
11252
Heterozygous Counts in All Race (ExAC)
9642
Homozygous Counts in All Race (ExAC)
805
Allele Frequency in All Race (ExAC)
0.09275715957990537
MMMP State (molecule) (MMMP)
polymorphism rs1799782
Variant (CIViC) (CIViC Variant)
R194W
Transcript 1 (CIViC Variant)
ENST00000262887.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/249
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