chr21:34638031:C>T Detail (hg19) (IFNAR2-IL10RB)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:34,638,031-34,638,031 |
| hg38 | chr21:33,265,726-33,265,726 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000433395.7:c.710-2668C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.545 | |
| 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 | |
Links
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | ||
| HGNC | |||
| Ensembl | ENSG00000249624 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | tgv64884435 | TogoVar |
| COSMIC | |||
| MONDO |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.002 | Ischemic stroke | To investigate whether IL10, IL10RA, and IL10RB polymorphisms are associated wit... | BeFree | 23096091 | Detail |
| 0.002 | Ischemic Cerebrovascular Accident | To investigate whether IL10, IL10RA, and IL10RB polymorphisms are associated wit... | BeFree | 23096091 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| To investigate whether IL10, IL10RA, and IL10RB polymorphisms are associated with the risk of ischem... | DisGeNET | Detail |
| To investigate whether IL10, IL10RA, and IL10RB polymorphisms are associated with the risk of ischem... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs999788 dbSNP
- Genome
- hg19
- Position
- chr21:34,638,031-34,638,031
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs999788
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5446
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9128
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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