chr1:206943713:G>C Detail (hg19) (IL10)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:206,943,713-206,943,713 |
| hg38 | chr1:206,770,368-206,770,368 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000572.2:c.379-474C>G | |
| Ensemble | ENST00000471071.2:c.124-474C>G | |
| ENST00000659065.2:c.262-474C>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.046 | |
| 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 |
|---|---|---|---|---|---|
| 0.004 | Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site | Eight single nucleotide polymorphisms were associated with spontaneous productio... | BeFree | 24628819 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Eight single nucleotide polymorphisms were associated with spontaneous production of IL-10 in cultur... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1878672 dbSNP
- Genome
- hg19
- Position
- chr1:206,943,713-206,943,713
- Variant Type
- snv
- Reference Allele
- G
- 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))
- rs1878672
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0462
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 774
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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