chr7:152375188:T>C Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:152,375,188-152,375,188 |
| hg38 | chr7:152,678,103-152,678,103 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.501 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Lip and oral cavity carcinoma | Similarly, the pseudo-haplotype of rs2040639-rs861539-rs2075685 (XRCC2-XRCC3-XRC... | BeFree | 18410587 | Detail |
| <0.001 | Malignant neoplasm of mouth | Similarly, the pseudo-haplotype of rs2040639-rs861539-rs2075685 (XRCC2-XRCC3-XRC... | BeFree | 18410587 | Detail |
| 0.006 | Malignant neoplasm of mouth | Taken together, the genotypes of XRCC1 rs1799782 and XRCC2 rs2040639 DNA repair ... | BeFree | 25831063 | Detail |
| <0.001 | Lip and oral cavity carcinoma | Taken together, the genotypes of XRCC1 rs1799782 and XRCC2 rs2040639 DNA repair ... | BeFree | 25831063 | Detail |
| <0.001 | Malignant neoplasm of mouth | Taken together, the genotypes of XRCC1 rs1799782 and XRCC2 rs2040639 DNA repair ... | BeFree | 25831063 | Detail |
| 0.001 | Lip and oral cavity carcinoma | Taken together, the genotypes of XRCC1 rs1799782 and XRCC2 rs2040639 DNA repair ... | BeFree | 25831063 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Similarly, the pseudo-haplotype of rs2040639-rs861539-rs2075685 (XRCC2-XRCC3-XRCC4) and rs2040639-rs... | DisGeNET | Detail |
| Similarly, the pseudo-haplotype of rs2040639-rs861539-rs2075685 (XRCC2-XRCC3-XRCC4) and rs2040639-rs... | DisGeNET | Detail |
| Taken together, the genotypes of XRCC1 rs1799782 and XRCC2 rs2040639 DNA repair genes appear to be s... | DisGeNET | Detail |
| Taken together, the genotypes of XRCC1 rs1799782 and XRCC2 rs2040639 DNA repair genes appear to be s... | DisGeNET | Detail |
| Taken together, the genotypes of XRCC1 rs1799782 and XRCC2 rs2040639 DNA repair genes appear to be s... | DisGeNET | Detail |
| Taken together, the genotypes of XRCC1 rs1799782 and XRCC2 rs2040639 DNA repair genes appear to be s... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs2040639 dbSNP
- Genome
- hg19
- Position
- chr7:152,375,188-152,375,188
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- 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))
- rs2040639
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5014
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8403
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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