chr5:135228165:G>A Detail (hg19) (IL9)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:135,228,165-135,228,165 |
| hg38 | chr5:135,892,476-135,892,476 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000590.1:c.350C>T | NP_000581.1:p.Thr117Met |
| Ensemble | ENST00000274520.2:c.350C>T | ENST00000274520.2:p.Thr117Met |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.002 |
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 |
|---|---|---|---|---|---|
| <0.001 | Childhood asthma | IL9 polymorphisms (rs11741137, rs2069885, and rs1859430) showed evidence for int... | BeFree | 25913104 | Detail |
| <0.001 | migraine with aura | Among active migraine with aura, the odds ratios (95% confidence intervals) were... | BeFree | 19559392 | Detail |
| <0.001 | migraine with aura | Among active migraine with aura, the odds ratios (95% confidence intervals) were... | BeFree | 19559392 | Detail |
| <0.001 | Common Migraine | Among active migraine with aura, the odds ratios (95% confidence intervals) were... | BeFree | 19559392 | Detail |
| <0.001 | migraine with aura | Among active migraine with aura, the odds ratios (95% confidence intervals) were... | BeFree | 19559392 | Detail |
| 0.009 | Common Migraine | Among active migraine with aura, the odds ratios (95% confidence intervals) were... | BeFree | 19559392 | Detail |
| <0.001 | migraine with aura | Among active migraine with aura, the odds ratios (95% confidence intervals) were... | BeFree | 19559392 | Detail |
| <0.001 | Common Migraine | Among active migraine with aura, the odds ratios (95% confidence intervals) were... | BeFree | 19559392 | Detail |
| <0.001 | migraine with aura | Among active migraine with aura, the odds ratios (95% confidence intervals) were... | BeFree | 19559392 | Detail |
| <0.001 | Common Migraine | Among active migraine with aura, the odds ratios (95% confidence intervals) were... | BeFree | 19559392 | Detail |
| <0.001 | Common Migraine | Among active migraine with aura, the odds ratios (95% confidence intervals) were... | BeFree | 19559392 | Detail |
| 0.005 | Respiratory Syncytial Virus Infections | [Interleukin-9 polymorphism in infants with respiratory syncytial virus infectio... | GAD | 20503287 | Detail |
| 0.001 | Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site | In conclusion, the IL-9 genetic polymorphism (rs2069885) has an opposite effect ... | BeFree | 20503287 | Detail |
| 0.005 | Bronchiolitis, Viral | [Interleukin-9 polymorphism in infants with respiratory syncytial virus infectio... | GAD | 20503287 | Detail |
| <0.001 | bronchiolitis | In conclusion, the IL-9 genetic polymorphism (rs2069885) has an opposite effect ... | BeFree | 20503287 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| IL9 polymorphisms (rs11741137, rs2069885, and rs1859430) showed evidence for interaction with dust m... | DisGeNET | Detail |
| Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... | DisGeNET | Detail |
| Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... | DisGeNET | Detail |
| Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... | DisGeNET | Detail |
| Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... | DisGeNET | Detail |
| Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... | DisGeNET | Detail |
| Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... | DisGeNET | Detail |
| Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... | DisGeNET | Detail |
| Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... | DisGeNET | Detail |
| Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... | DisGeNET | Detail |
| Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... | DisGeNET | Detail |
| [Interleukin-9 polymorphism in infants with respiratory syncytial virus infection: an opposite effec... | DisGeNET | Detail |
| In conclusion, the IL-9 genetic polymorphism (rs2069885) has an opposite effect on the risk of sever... | DisGeNET | Detail |
| [Interleukin-9 polymorphism in infants with respiratory syncytial virus infection: an opposite effec... | DisGeNET | Detail |
| In conclusion, the IL-9 genetic polymorphism (rs2069885) has an opposite effect on the risk of sever... | 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
- -
- Genome
- hg19
- Position
- chr5:135,228,165-135,228,165
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 15
- East Asian Heterozygous Counts (ExAC)
- 15
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0017337031900138697
- Chromosome Counts in All Race (ExAC)
- 121300
- Allele Counts in All Race (ExAC)
- 14125
- Heterozygous Counts in All Race (ExAC)
- 12213
- Homozygous Counts in All Race (ExAC)
- 956
- Allele Frequency in All Race (ExAC)
- 0.11644682605111294
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