chr2:216108009:G>T Detail (hg38) (XRCC5)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:216,972,732-216,972,732 View the variant detail on this assembly version. |
| hg38 | chr2:216,108,009-216,108,009 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000392133.7:c.-347+311G>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.225 | |
| 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 | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.015 | Malignant neoplasm of breast | This meta-analysis suggests that the rs3835 G>A and rs828907 G>T in XRCC5 ... | BeFree | 23098447 | Detail |
| 0.003 | breast carcinoma | This meta-analysis suggests that the rs3835 G>A and rs828907 G>T in XRCC5 ... | BeFree | 23098447 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| This meta-analysis suggests that the rs3835 G>A and rs828907 G>T in XRCC5 gene, rs6002421 (A&g... | DisGeNET | Detail |
| This meta-analysis suggests that the rs3835 G>A and rs828907 G>T in XRCC5 gene, rs6002421 (A&g... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs828907 dbSNP
- Genome
- hg38
- Position
- chr2:216,108,009-216,108,009
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- 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))
- rs828907
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2251
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3772
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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