chr5:158754195:C>A Detail (hg19) (IL12B)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:158,754,195-158,754,195 |
| hg38 | chr5:159,327,187-159,327,187 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002187.2:c.1-405G>T | |
| Ensemble | ENST00000231228.3:c.1-405G>T | |
| ENST00000696750.1:c.-149+3245G>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.554 | |
| 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 |
| 0.007 | Tuberculosis, Pulmonary | Using multiple corrections, significant overall risk against PTB was observed at... | BeFree | 22771610 | 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 |
| Using multiple corrections, significant overall risk against PTB was observed at seven loci which in... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs3212220 dbSNP
- Genome
- hg19
- Position
- chr5:158,754,195-158,754,195
- Variant Type
- snv
- Reference Allele
- C
- 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))
- rs3212220
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5536
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9279
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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