chr5:132678271:A>C Detail (hg38) (IL4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:132,013,963-132,013,963 View the variant detail on this assembly version. |
| hg38 | chr5:132,678,271-132,678,271 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000589.3:c.184-1443A>C | |
| NM_172348.2:c.136-1443A>C | ||
| Ensemble | ENST00000231449.7:c.184-1443A>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.664 | |
| 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 |
|---|---|---|---|---|---|
| 0.020 | tuberculosis | rs2243268 and rs2243274 of Interleukin-4 (IL-4) gene are associated with reduced... | BeFree | 24518693 | Detail |
| <0.001 | Tuberculosis, extrapulmonary | In conclusion, rs2243268-A and rs2243274-G of the IL-4 gene were found to confer... | BeFree | 24518693 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| rs2243268 and rs2243274 of Interleukin-4 (IL-4) gene are associated with reduced risk for extrapulmo... | DisGeNET | Detail |
| In conclusion, rs2243268-A and rs2243274-G of the IL-4 gene were found to confer resistance to EPTB ... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2243268 dbSNP
- Genome
- hg38
- Position
- chr5:132,678,271-132,678,271
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- 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))
- rs2243268
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6644
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 11135
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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