chrX:117925898:A>G Detail (hg19) (IL13RA1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:117,925,898-117,925,898 |
| hg38 | chrX:118,791,935-118,791,935 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001560.2:c.*81A>G | |
| Ensemble | ENST00000371666.8:c.*81A>G | |
| ENST00000652600.1:c.*81A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.425 | |
| 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 |
|---|---|---|---|---|---|
| 0.055 | asthma | To investigate associations between total serum immunoglobulin E (IgE) levels an... | BeFree | 22376040 | Detail |
| 0.038 | asthma | To investigate associations between total serum immunoglobulin E (IgE) levels an... | BeFree | 22376040 | Detail |
| 0.266 | asthma | To investigate associations between total serum immunoglobulin E (IgE) levels an... | BeFree | 22376040 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| To investigate associations between total serum immunoglobulin E (IgE) levels and single nucleotide ... | DisGeNET | Detail |
| To investigate associations between total serum immunoglobulin E (IgE) levels and single nucleotide ... | DisGeNET | Detail |
| To investigate associations between total serum immunoglobulin E (IgE) levels and single nucleotide ... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2495636 dbSNP
- Genome
- hg19
- Position
- chrX:117,925,898-117,925,898
- 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))
- rs2495636
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4254
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5464
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12843
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