chr6:31576412:A>G Detail (hg38) (TNF)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:31,544,189-31,544,189 View the variant detail on this assembly version. |
| hg38 | chr6:31,576,412-31,576,412 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000594.3:c.187-122A>G | |
| Ensemble | ENST00000449264.3:c.187-122A>G | |
| ENST00000699334.1:c.187-355A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.018 | |
| 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 |
|---|---|---|---|---|---|
| 0.064 | tuberculosis | The variant of the TNFA gene at rs3093662, the IL12 gene at rs3213094 and rs3212... | BeFree | 21463712 | Detail |
| 0.061 | tuberculosis | The variant of the TNFA gene at rs3093662, the IL12 gene at rs3213094 and rs3212... | BeFree | 21463712 | Detail |
| 0.005 | Delayed Graft Function | [Association of donor inflammation- and apoptosis-related genotypes and delayed ... | GAD | 18640487 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The variant of the TNFA gene at rs3093662, the IL12 gene at rs3213094 and rs3212220 and the IL10 gen... | DisGeNET | Detail |
| The variant of the TNFA gene at rs3093662, the IL12 gene at rs3213094 and rs3212220 and the IL10 gen... | DisGeNET | Detail |
| [Association of donor inflammation- and apoptosis-related genotypes and delayed allograft function a... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs3093662 dbSNP
- Genome
- hg38
- Position
- chr6:31,576,412-31,576,412
- 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))
- rs3093662
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0176
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 295
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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