chr5:132544224:A>G Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:131,879,916-131,879,916 View the variant detail on this assembly version. |
| hg38 | chr5:132,544,224-132,544,224 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.435 | |
| 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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.002 | Allergic sensitization | The authors analyze the possible implication of 7 genetic polymorphisms describe... | BeFree | 18849614 | Detail |
| 0.269 | asthma | The authors analyze the possible implication of 7 genetic polymorphisms describe... | BeFree | 18849614 | Detail |
| 0.245 | asthma | The authors analyze the possible implication of 7 genetic polymorphisms describe... | BeFree | 18849614 | Detail |
| <0.001 | Allergic sensitization | The authors analyze the possible implication of 7 genetic polymorphisms describe... | BeFree | 18849614 | Detail |
| <0.001 | Allergic sensitization | The authors analyze the possible implication of 7 genetic polymorphisms describe... | BeFree | 18849614 | Detail |
| 0.004 | Lymphoma, Large-Cell, Follicular | A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(for... | BeFree | 20952689 | Detail |
| 0.003 | B-Cell Lymphomas | A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(for... | BeFree | 20952689 | Detail |
| 0.050 | Lymphoma, Non-Hodgkin | A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(for... | BeFree | 20952689 | Detail |
| 0.010 | B-Cell Lymphomas | A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(for... | BeFree | 20952689 | Detail |
| 0.004 | T-Cell Lymphoma | A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(for... | BeFree | 20952689 | Detail |
| 0.002 | T-Cell Lymphoma | A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(for... | BeFree | 20952689 | Detail |
| <0.001 | Graves Disease | The results suggested that the polymorphism of IL-3 (rs40401) and IL-5 (rs206981... | BeFree | 20332709 | Detail |
| 0.245 | asthma | In two large study populations of children, the German part of the International... | BeFree | 17362254 | Detail |
| 0.010 | asthma | In two large study populations of children, the German part of the International... | BeFree | 17362254 | Detail |
| <0.001 | Allergic disposition | In two large study populations of children, the German part of the International... | BeFree | 17362254 | Detail |
| <0.001 | Thyroid associated opthalmopathies | The results suggested that the polymorphism of IL-3 (rs40401) and IL-5 (rs206981... | BeFree | 20332709 | Detail |
| 0.013 | asthma | We conducted an association study between known polymorphisms of IL-5 (T-746C) a... | BeFree | 15805995 | Detail |
| 0.016 | asthma | In two large study populations of children, the German part of the International... | BeFree | 17362254 | Detail |
| 0.006 | Graves Disease | The results suggested that the polymorphism of IL-3 (rs40401) and IL-5 (rs206981... | BeFree | 20332709 | Detail |
| <0.001 | Allergic disposition | In two large study populations of children, the German part of the International... | BeFree | 17362254 | Detail |
| 0.002 | Allergic disposition | In two large study populations of children, the German part of the International... | BeFree | 17362254 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The authors analyze the possible implication of 7 genetic polymorphisms described as asthma suscepti... | DisGeNET | Detail |
| The authors analyze the possible implication of 7 genetic polymorphisms described as asthma suscepti... | DisGeNET | Detail |
| The authors analyze the possible implication of 7 genetic polymorphisms described as asthma suscepti... | DisGeNET | Detail |
| The authors analyze the possible implication of 7 genetic polymorphisms described as asthma suscepti... | DisGeNET | Detail |
| The authors analyze the possible implication of 7 genetic polymorphisms described as asthma suscepti... | DisGeNET | Detail |
| A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(forinteraction) = .034)... | DisGeNET | Detail |
| A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(forinteraction) = .034)... | DisGeNET | Detail |
| A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(forinteraction) = .034)... | DisGeNET | Detail |
| A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(forinteraction) = .034)... | DisGeNET | Detail |
| A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(forinteraction) = .034)... | DisGeNET | Detail |
| A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(forinteraction) = .034)... | DisGeNET | Detail |
| The results suggested that the polymorphism of IL-3 (rs40401) and IL-5 (rs2069812) were associated w... | DisGeNET | Detail |
| In two large study populations of children, the German part of the International Study of Asthma and... | DisGeNET | Detail |
| In two large study populations of children, the German part of the International Study of Asthma and... | DisGeNET | Detail |
| In two large study populations of children, the German part of the International Study of Asthma and... | DisGeNET | Detail |
| The results suggested that the polymorphism of IL-3 (rs40401) and IL-5 (rs2069812) were associated w... | DisGeNET | Detail |
| We conducted an association study between known polymorphisms of IL-5 (T-746C) and TBXA2R (T924C) an... | DisGeNET | Detail |
| In two large study populations of children, the German part of the International Study of Asthma and... | DisGeNET | Detail |
| The results suggested that the polymorphism of IL-3 (rs40401) and IL-5 (rs2069812) were associated w... | DisGeNET | Detail |
| In two large study populations of children, the German part of the International Study of Asthma and... | DisGeNET | Detail |
| In two large study populations of children, the German part of the International Study of Asthma and... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs2069812 dbSNP
- Genome
- hg38
- Position
- chr5:132,544,224-132,544,224
- 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))
- rs2069812
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4349
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7289
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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