chr19:44056412:C>T Detail (hg19) (XRCC1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:44,056,412-44,056,412 |
| hg38 | chr19:43,552,260-43,552,260 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006297.2:c.746G>A | NP_006288.2:p.Arg249His |
| Ensemble | ENST00000262887.10:c.839G>A | ENST00000262887.10:p.Arg280His |
| ENST00000543982.5:c.746G>A | ENST00000543982.5:p.Arg249His |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.086 |
| ToMMo:0.082 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.150 |
Prediction
ClinVar
| Clinical Significance |
association
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
association
|
2022-06-16 | no assertion criteria provided | laryngeal squamous cell carcinoma |
germline
|
Detail |
CIViC
[No Data.]
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 |
| 0.002 | 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 |
| 0.018 | breast carcinoma | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | 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 |
| 0.098 | Malignant neoplasm of breast | Using data/samples collected from the first 752 Caucasians and 141 African-Ameri... | BeFree | 18701435 | Detail |
| 0.006 | Squamous cell carcinoma of the head and neck | Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 A... | BeFree | 21419115 | Detail |
| 0.003 | Nasopharyngeal carcinoma | Distribution and haplotype associations of XPD Lys751Gln, XRCC1 Arg280His and XR... | BeFree | 24761895 | Detail |
| 0.002 | Squamous cell carcinoma of the head and neck | Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 A... | BeFree | 21419115 | Detail |
| <0.001 | 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 |
| <0.001 | 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 |
| <0.001 | 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 |
| 0.021 | Cancer of Head and Neck | The XRCC1 Arg194Trp and Arg280His polymorphisms in head and neck cancer suscepti... | BeFree | 25062722 | Detail |
| 0.008 | stomach carcinoma | XRCC1 genetic polymorphism Arg339Gln, Arg194Trp, Arg280His and gastric cancer ri... | BeFree | 25335737 | 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 |
| 0.008 | Carcinoma of bladder | XRCC1 Arg194Trp and Arg280His polymorphisms in bladder cancer susceptibility: a ... | BeFree | 24266849 | Detail |
| <0.001 | Tumor Progression | Our findings demonstrated that the genetic variant Arg280His in XRCC1 may contri... | BeFree | 23425027 | Detail |
| <0.001 | Spots on skin | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... | BeFree | 14716779 | 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 |
| 0.038 | Esophageal Neoplasms | XRCC1 Arg399Gln, Arg194Trp, and Arg280His polymorphisms in esophageal cancer ris... | BeFree | 23543084 | Detail |
| 0.018 | breast carcinoma | XRCC1 Arg399Gln, Arg194Trp and Arg280His polymorphisms in breast cancer risk: a ... | BeFree | 19465687 | Detail |
| <0.001 | Exanthema | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... | BeFree | 14716779 | Detail |
| <0.001 | Spots on skin | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... | BeFree | 14716779 | 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 | Exanthema | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... | BeFree | 14716779 | Detail |
| 0.001 | Spots on skin | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... | BeFree | 14716779 | Detail |
| 0.098 | Malignant neoplasm of breast | XRCC1 Arg399Gln, Arg194Trp and Arg280His polymorphisms in breast cancer risk: a ... | BeFree | 19465687 | Detail |
| 0.005 | Non-small cell lung carcinoma | The frequencies of several amino acid substitutions in XRCC1 (Arg194Trp, Arg280H... | BeFree | 11285194 | Detail |
| <0.001 | Spots on skin | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... | BeFree | 14716779 | Detail |
| 0.005 | Leukemia, Lymphocytic, Acute, L1 | We examined the influence of the Arg194Trp, Arg280His, and Arg399Gln polymorphis... | BeFree | 20013659 | Detail |
| 0.001 | Exanthema | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... | BeFree | 14716779 | 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 |
| <0.001 | Exanthema | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transfera... | BeFree | 14716779 | Detail |
| 0.079 | Malignant neoplasm of urinary bladder | XRCC1 Arg194Trp and Arg280His polymorphisms increase bladder cancer risk in Asia... | BeFree | 23704969 | Detail |
| 0.079 | Malignant neoplasm of urinary bladder | XRCC1 Arg194Trp and Arg280His polymorphisms in bladder cancer susceptibility: a ... | BeFree | 24266849 | Detail |
| 0.002 | esophageal carcinoma | XRCC1 Arg399Gln, Arg194Trp, and Arg280His polymorphisms in esophageal cancer ris... | BeFree | 23543084 | Detail |
| 0.003 | Xeroderma Pigmentosum, Complementation Group D | The purpose of the study was to evaluate the association between XRCC1 Arg399Gln... | BeFree | 24955348 | Detail |
| <0.001 | 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 |
| 0.020 | Carcinoma of lung | No associations were found between the polymorphisms OGG1 Ser326Cys, XRCC1 Arg28... | BeFree | 15587988 | Detail |
| 0.100 | Malignant neoplasm of lung | No associations were found between the polymorphisms OGG1 Ser326Cys, XRCC1 Arg28... | BeFree | 15587988 | Detail |
| 0.080 | breast carcinoma | An association was observed between p.Arg280His-rs25489 and breast cancer risk f... | BeFree | 21427728 | Detail |
| 0.018 | liver carcinoma | The XRCC1 Arg280His gene polymorphism and hepatocellular carcinoma risk: a meta-... | BeFree | 23679314 | Detail |
| 0.480 | Malignant neoplasm of breast | An association was observed between p.Arg280His-rs25489 and breast cancer risk f... | BeFree | 21427728 | Detail |
| 0.018 | liver carcinoma | More rigorous association studies are needed to verify the involvement of XRCC1 ... | BeFree | 22919255 | Detail |
| 0.003 | Hematologic Neoplasms | The association between the Arg280His polymorphism in the XRCC1 gene and the ris... | BeFree | 24096581 | Detail |
| 0.006 | rheumatoid arthritis | Possible association of the X-ray cross complementing gene 1 (XRCC1) Arg280His p... | BeFree | 16284769 | Detail |
| <0.001 | melanoma | We hypothesized that common nsSNPs of BER genes, specifically ADPRT rs1136410, X... | BeFree | 22687647 | Detail |
| 0.002 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.010 | Glioma | No evidence of significant associations between ERCC2 rs1799793, OGG1 rs1052133,... | BeFree | 24500421 | Detail |
| 0.156 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.005 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.004 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| <0.001 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>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 |
| <0.001 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.002 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| <0.001 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.001 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | 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>C, 8... | BeFree | 16195237 | Detail |
| 0.004 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| 0.004 | Non-small cell lung carcinoma | 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 |
| <0.001 | Rash and Dermatitis Adverse Event Associated with Chemoradiation | We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs2548... | BeFree | 21420246 | 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 |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_006297.3(XRCC1):c.839G>A (p.Arg280His) AND Laryngeal squamous cell carcinoma | 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 |
| 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 |
| 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 |
| Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782)... | DisGeNET | Detail |
| Distribution and haplotype associations of XPD Lys751Gln, XRCC1 Arg280His and XRCC1 Arg399Gln polymo... | DisGeNET | Detail |
| Genetic variants ERCC2 Lys751Gln (rs13181), ERCC2 Asp312Asn (rs1799793), XRCC1 Arg194Trp (rs1799782)... | DisGeNET | Detail |
| The germline polymorphisms studied were thymidylate synthase, (VNTR/5'UTR, 2R G>C single nucleoti... | DisGeNET | Detail |
| The germline polymorphisms studied were thymidylate synthase, (VNTR/5'UTR, 2R G>C single nucleoti... | DisGeNET | Detail |
| The germline polymorphisms studied were thymidylate synthase, (VNTR/5'UTR, 2R G>C single nucleoti... | DisGeNET | Detail |
| The germline polymorphisms studied were thymidylate synthase, (VNTR/5'UTR, 2R G>C single nucleoti... | 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 |
| 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 |
| The XRCC1 Arg194Trp and Arg280His polymorphisms in head and neck cancer susceptibility: a meta-analy... | DisGeNET | Detail |
| XRCC1 genetic polymorphism Arg339Gln, Arg194Trp, Arg280His and gastric cancer risk: an evidence base... | 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 Arg280His polymorphisms in bladder cancer susceptibility: a meta-analysis. | DisGeNET | Detail |
| Our findings demonstrated that the genetic variant Arg280His in XRCC1 may contribute to cancer progr... | DisGeNET | Detail |
| Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... | 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 |
| XRCC1 Arg399Gln, Arg194Trp, and Arg280His polymorphisms in esophageal cancer risk: a meta-analysis. | DisGeNET | Detail |
| XRCC1 Arg399Gln, Arg194Trp and Arg280His polymorphisms in breast cancer risk: a meta-analysis. | 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 |
| 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 |
| 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 |
| XRCC1 Arg399Gln, Arg194Trp and Arg280His polymorphisms in breast cancer risk: a meta-analysis. | DisGeNET | Detail |
| The frequencies of several amino acid substitutions in XRCC1 (Arg194Trp, Arg280His and Arg399Gln), X... | DisGeNET | Detail |
| Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), m... | DisGeNET | Detail |
| We examined the influence of the Arg194Trp, Arg280His, and Arg399Gln polymorphisms of XRCC1 (X-ray r... | 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 |
| XRCC1 Arg194Trp and Arg280His polymorphisms increase bladder cancer risk in Asian population: eviden... | 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 |
| XRCC1 Arg194Trp and Arg280His polymorphisms in bladder cancer susceptibility: a meta-analysis. | DisGeNET | Detail |
| XRCC1 Arg399Gln, Arg194Trp, and Arg280His polymorphisms in esophageal cancer risk: a meta-analysis. | DisGeNET | Detail |
| The purpose of the study was to evaluate the association between XRCC1 Arg399Gln, Arg280His and Arg1... | 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 |
| No associations were found between the polymorphisms OGG1 Ser326Cys, XRCC1 Arg280His, and XRCCI Arg3... | DisGeNET | Detail |
| No associations were found between the polymorphisms OGG1 Ser326Cys, XRCC1 Arg280His, and XRCCI Arg3... | DisGeNET | Detail |
| An association was observed between p.Arg280His-rs25489 and breast cancer risk for BRCA2 mutation ca... | DisGeNET | Detail |
| The XRCC1 Arg280His gene polymorphism and hepatocellular carcinoma risk: a meta-analysis. | DisGeNET | Detail |
| An association was observed between p.Arg280His-rs25489 and breast cancer risk for BRCA2 mutation ca... | DisGeNET | Detail |
| More rigorous association studies are needed to verify the involvement of XRCC1 Arg280His polymorphi... | DisGeNET | Detail |
| The association between the Arg280His polymorphism in the XRCC1 gene and the risk of hematological m... | DisGeNET | Detail |
| Possible association of the X-ray cross complementing gene 1 (XRCC1) Arg280His polymorphism as a ris... | DisGeNET | Detail |
| We hypothesized that common nsSNPs of BER genes, specifically ADPRT rs1136410, XRCC1 rs25487, rs2548... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| No evidence of significant associations between ERCC2 rs1799793, OGG1 rs1052133, XRCC1 rs25489, XRCC... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | 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>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | 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>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | 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 |
| We genotyped SNPs of ADPRT (rs1136410 [V762A]), XRCC1 (rs1799782 [R194W], rs25489 [R280H], and rs254... | 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 |
| 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
- -
- Genome
- hg19
- Position
- chr19:44,056,412-44,056,412
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 163.81
- Standard deviation of sample read depth (HGVD)
- 76.51
- Number of reference allele (HGVD)
- 2213
- Number of alternative allele (HGVD)
- 207
- Allele Frequency (HGVD)
- 0.08553719008264463
- 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))
- rs25489
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0816
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1368
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 5624
- East Asian Allele Counts (ExAC)
- 843
- East Asian Heterozygous Counts (ExAC)
- 730
- East Asian Homozygous Counts (ExAC)
- 56
- East Asian Allele Frequency (ExAC)
- 0.14989331436699857
- Chromosome Counts in All Race (ExAC)
- 83586
- Allele Counts in All Race (ExAC)
- 7365
- Heterozygous Counts in All Race (ExAC)
- 6722
- Homozygous Counts in All Race (ExAC)
- 321
- Allele Frequency in All Race (ExAC)
- 0.08811284186346996
- MMMP State (molecule) (MMMP)
- polymorphism rs25489
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