chr22:41615960:A>G Detail (hg38) (DESI1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr22:42,011,964-42,011,964 View the variant detail on this assembly version. |
| hg38 | chr22:41,615,960-41,615,960 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_015704.2:c.88+4792T>C | |
| Ensemble | ENST00000263256.7:c.88+4792T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.026 | |
| 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
- rs6002421 dbSNP
- Genome
- hg38
- Position
- chr22:41,615,960-41,615,960
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- 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))
- rs6002421
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.026
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 436
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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