chr10:91827975:A>G Detail (hg38) (TNKS2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:93,587,732-93,587,732 View the variant detail on this assembly version. |
| hg38 | chr10:91,827,975-91,827,975 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_025235.3:c.983-310A>G | |
| Ensemble | ENST00000371627.5:c.983-310A>G | |
| ENST00000710380.1:c.1022-310A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.002 | |
| 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 |
|---|---|---|---|---|---|
| 0.008 | Malignant neoplasm of breast | The strongest association with BC susceptibility was observed for rs3785074 (TER... | BeFree | 19766477 | Detail |
| <0.001 | breast carcinoma | The strongest association with BC susceptibility was observed for rs3785074 (TER... | BeFree | 19766477 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The strongest association with BC susceptibility was observed for rs3785074 (TERF2, OR 0.51, 95% CI ... | DisGeNET | Detail |
| The strongest association with BC susceptibility was observed for rs3785074 (TERF2, OR 0.51, 95% CI ... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs10509637 dbSNP
- Genome
- hg38
- Position
- chr10:91,827,975-91,827,975
- 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))
- rs10509637
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0018
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 30
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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