chr19:43575535:G>A Detail (hg38) (XRCC1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:44,079,687-44,079,687 View the variant detail on this assembly version. |
| hg38 | chr19:43,575,535-43,575,535 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006297.2:c.-77C>T | |
| Ensemble | ENST00000543982.5:c.-77C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.895 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.895 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.012 | Non-small cell lung carcinoma | This study tested whether XPD Lys751Gln and XRCC1 T-77C polymorphisms were assoc... | BeFree | 21129812 | Detail |
| 0.005 | Non-small cell lung carcinoma | This study tested whether XPD Lys751Gln and XRCC1 T-77C polymorphisms were assoc... | BeFree | 21129812 | Detail |
| 0.012 | Non-small cell lung carcinoma | A novel T-77C polymorphism in DNA repair gene XRCC1 contributes to diminished pr... | BeFree | 16652158 | Detail |
| 0.012 | Non-small cell lung carcinoma | Our results suggest that XRCC1 T-77C variants (TC + CC) may act as a favorable p... | BeFree | 19052039 | Detail |
| 0.020 | Carcinoma of lung | Thus, there is a significant association of XRCC1 rs3213245 polymorphism with lu... | BeFree | 24470137 | Detail |
| 0.100 | Malignant neoplasm of lung | Thus, there is a significant association of XRCC1 rs3213245 polymorphism with lu... | BeFree | 24470137 | Detail |
| 0.006 | Paroxysmal atrial tachycardia | No associations with lung cancer risk were found for the XRCC1 -77 T/C, the XPA ... | BeFree | 17531525 | Detail |
| 0.123 | Squamous cell carcinoma of esophagus | Recently, we reported a SNP (rs3213245, -77T>C) in the XRCC1 gene 5' untransl... | BeFree | 16652158 | Detail |
| <0.001 | Squamous cell carcinoma of esophagus | In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala a... | BeFree | 15205355 | Detail |
| <0.001 | Squamous cell carcinoma of esophagus | In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala a... | BeFree | 15205355 | Detail |
| <0.001 | Squamous cell carcinoma of esophagus | In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala a... | BeFree | 15205355 | Detail |
| <0.001 | Squamous cell carcinoma of esophagus | In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala a... | BeFree | 15205355 | Detail |
| 0.123 | Squamous cell carcinoma of esophagus | In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala a... | BeFree | 15205355 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| This study tested whether XPD Lys751Gln and XRCC1 T-77C polymorphisms were associated with survival ... | DisGeNET | Detail |
| This study tested whether XPD Lys751Gln and XRCC1 T-77C polymorphisms were associated with survival ... | DisGeNET | Detail |
| A novel T-77C polymorphism in DNA repair gene XRCC1 contributes to diminished promoter activity and ... | DisGeNET | Detail |
| Our results suggest that XRCC1 T-77C variants (TC + CC) may act as a favorable prognostic indicator ... | DisGeNET | Detail |
| Thus, there is a significant association of XRCC1 rs3213245 polymorphism with lung cancer risk. | DisGeNET | Detail |
| Thus, there is a significant association of XRCC1 rs3213245 polymorphism with lung cancer risk. | DisGeNET | Detail |
| No associations with lung cancer risk were found for the XRCC1 -77 T/C, the XPA -4 G/A and the XPC P... | DisGeNET | Detail |
| Recently, we reported a SNP (rs3213245, -77T>C) in the XRCC1 gene 5' untranslated region (UTR) wa... | DisGeNET | Detail |
| In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) a... | DisGeNET | Detail |
| In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) a... | DisGeNET | Detail |
| In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) a... | DisGeNET | Detail |
| In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) a... | DisGeNET | Detail |
| In the final model, 4 SNPs, including 2 in the coding regions (ADPRT Val762Ala and MBD4 Glu346Lys) a... | DisGeNET | 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
- rs3213245 dbSNP
- Genome
- hg38
- Position
- chr19:43,575,535-43,575,535
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs3213245
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8952
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 15003
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 6558
- East Asian Allele Counts (ExAC)
- 5867
- East Asian Heterozygous Counts (ExAC)
- 647
- East Asian Homozygous Counts (ExAC)
- 2610
- East Asian Allele Frequency (ExAC)
- 0.8946325099115584
- Chromosome Counts in All Race (ExAC)
- 85302
- Allele Counts in All Race (ExAC)
- 56260
- Heterozygous Counts in All Race (ExAC)
- 19638
- Homozygous Counts in All Race (ExAC)
- 18311
- Allele Frequency in All Race (ExAC)
- 0.6595390494947363
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