chr7:152360184:G>A Detail (hg19) (XRCC2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:152,360,184-152,360,184 |
| hg38 | chr7:152,663,099-152,663,099 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005431.1:c.40-2317C>T | |
| Ensemble | ENST00000359321.2:c.40-2317C>T | |
| ENST00000698506.1:c.-48+12942C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.198 | |
| 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 |
|---|---|---|---|---|---|
| 0.011 | breast carcinoma | We prospectively assessed the associations of candidate polymorphisms G31479A (R... | BeFree | 14578164 | Detail |
| 0.085 | Malignant neoplasm of breast | We prospectively assessed the associations of candidate polymorphisms G31479A (R... | BeFree | 14578164 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We prospectively assessed the associations of candidate polymorphisms G31479A (R188H) in XRCC2, A454... | DisGeNET | Detail |
| We prospectively assessed the associations of candidate polymorphisms G31479A (R188H) in XRCC2, A454... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs3218458 dbSNP
- Genome
- hg19
- Position
- chr7:152,360,184-152,360,184
- 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))
- rs3218458
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1982
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3321
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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