chr5:132673462:C>T Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:132,009,154-132,009,154 View the variant detail on this assembly version. |
| hg38 | chr5:132,673,462-132,673,462 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.665 | |
| 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 |
|---|---|---|---|---|---|
| 0.055 | 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 |
| 0.266 | asthma | We aimed to investigate the association of the polymorphisms for IL-4 (C-589T), ... | BeFree | 17536219 | Detail |
| 0.111 | asthma | We aimed to investigate the association of the polymorphisms for IL-4 (C-589T), ... | BeFree | 17536219 | Detail |
| 0.355 | asthma | A total of 214 atopic patients (108 with asthma and 106 with allergic rhinitis) ... | BeFree | 23654077 | Detail |
| <0.001 | Ischemic stroke | Interleukin-4 (IL4) polymorphisms (rs2243250, rs2070874) were analysed in Korean... | BeFree | 21501388 | Detail |
| 0.001 | Lip and oral cavity carcinoma | Taken together, our results indicated that IL-4 rs2243250 polymorphism was assoc... | BeFree | 23572437 | Detail |
| 0.007 | Graves Disease | This study aimed to examine the association between promoter polymorphisms of Th... | BeFree | 17208210 | Detail |
| 0.001 | Malignant neoplasm of mouth | Taken together, our results indicated that IL-4 rs2243250 polymorphism was assoc... | BeFree | 23572437 | Detail |
| 0.008 | renal cell carcinoma | Taken together, our results indicated that IL-4 rs2243250 polymorphism was assoc... | BeFree | 23572437 | Detail |
| 0.007 | Graves Disease | This study aimed to examine the association between promoter polymorphisms of Th... | BeFree | 17208210 | Detail |
| <0.001 | Vitamin D Deficiency | When examined jointly with SNPs, a significant interaction between IL4 gene poly... | BeFree | 21819409 | Detail |
| 0.355 | asthma | Association between C-589T polymorphisms of interleukin-4 gene promoter and asth... | BeFree | 18396027 | Detail |
| 0.126 | Autoimmune Diseases | Relationship between the IL-4 gene promoter -590C/T (rs2243250) polymorphism and... | BeFree | 24628947 | Detail |
| 0.126 | Autoimmune Diseases | Data from other studies show that the -589T/C polymorphism in IL-4 promoter may ... | BeFree | 21460743 | Detail |
| <0.001 | Wheezing | Environmental tobacco smoke and interleukin 4 polymorphism (C-589T) gene: enviro... | BeFree | 18410779 | Detail |
| 0.355 | asthma | Interleukin-4 -589C/T Polymorphism is Associated with Increased Pediatric Asthma... | BeFree | 25537796 | Detail |
| 0.355 | asthma | Interleukin-4 rs2243250 polymorphism is associated with asthma among Caucasians ... | BeFree | 22652416 | Detail |
| 0.012 | Graves Disease | This study aimed to examine the association between promoter polymorphisms of Th... | BeFree | 17208210 | Detail |
| 0.033 | rheumatoid arthritis | The present study suggests that the IL-4 rs2243250 polymorphism might be associa... | BeFree | 24628947 | Detail |
| 0.032 | Graves Disease | This study aimed to examine the association between promoter polymorphisms of Th... | BeFree | 17208210 | Detail |
| 0.355 | asthma | Association between the interleukin-4 gene C-589T and C+33T polymorphisms and as... | BeFree | 23398789 | Detail |
| 0.012 | Graves Disease | However, we failed to reveal any association between IL-4 rs2243250 polymorphism... | BeFree | 24628947 | Detail |
| 0.185 | HIV Infections | In contrast to a previous study, we found that the -589T polymorphism was associ... | BeFree | 12700447 | Detail |
| 0.355 | asthma | Association of TNF-alpha -308 G/A and IL-4 -589 C/T gene promoter polymorphisms ... | BeFree | 18088017 | Detail |
| 0.355 | asthma | The interleukin-4 -589C/T polymorphism and the risk of asthma: a meta-analysis i... | BeFree | 23454622 | Detail |
| 0.102 | Diabetes Mellitus, Insulin-Dependent | However, we failed to reveal any association between IL-4 rs2243250 polymorphism... | BeFree | 24628947 | Detail |
| 0.012 | allergic asthma | Interleukin-4 rs2243250 polymorphism is associated with asthma among Caucasians ... | BeFree | 22652416 | Detail |
| 0.140 | Lupus Erythematosus, Systemic | However, we failed to reveal any association between IL-4 rs2243250 polymorphism... | BeFree | 24628947 | Detail |
| 0.011 | Malignant neoplasm of breast | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250),... | BeFree | 24164868 | Detail |
| 0.003 | Malignant neoplasm of breast | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250),... | BeFree | 24164868 | Detail |
| 0.019 | Malignant neoplasm of breast | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250),... | BeFree | 24164868 | Detail |
| 0.004 | breast carcinoma | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250),... | BeFree | 24164868 | Detail |
| 0.008 | breast carcinoma | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250),... | BeFree | 24164868 | Detail |
| 0.006 | breast carcinoma | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250),... | BeFree | 24164868 | Detail |
| 0.003 | breast carcinoma | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250),... | BeFree | 24164868 | Detail |
| 0.006 | Malignant neoplasm of breast | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250),... | BeFree | 24164868 | Detail |
| 0.001 | malaria | A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800... | BeFree | 26448013 | Detail |
| 0.005 | malaria | A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800... | BeFree | 26448013 | Detail |
| 0.157 | malaria | A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800... | BeFree | 26448013 | Detail |
| 0.010 | malaria | A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800... | BeFree | 26448013 | Detail |
| <0.001 | malaria | A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800... | BeFree | 26448013 | Detail |
| 0.139 | malaria | A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800... | BeFree | 26448013 | 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 |
| We aimed to investigate the association of the polymorphisms for IL-4 (C-589T), IL-4R alpha (Gln576A... | DisGeNET | Detail |
| We aimed to investigate the association of the polymorphisms for IL-4 (C-589T), IL-4R alpha (Gln576A... | DisGeNET | Detail |
| A total of 214 atopic patients (108 with asthma and 106 with allergic rhinitis) and 120 healthy cont... | DisGeNET | Detail |
| Interleukin-4 (IL4) polymorphisms (rs2243250, rs2070874) were analysed in Korean patients with ischa... | DisGeNET | Detail |
| Taken together, our results indicated that IL-4 rs2243250 polymorphism was associated with decreased... | DisGeNET | Detail |
| This study aimed to examine the association between promoter polymorphisms of Th1 and Th2 cytokine g... | DisGeNET | Detail |
| Taken together, our results indicated that IL-4 rs2243250 polymorphism was associated with decreased... | DisGeNET | Detail |
| Taken together, our results indicated that IL-4 rs2243250 polymorphism was associated with decreased... | DisGeNET | Detail |
| This study aimed to examine the association between promoter polymorphisms of Th1 and Th2 cytokine g... | DisGeNET | Detail |
| When examined jointly with SNPs, a significant interaction between IL4 gene polymorphism (rs2243250)... | DisGeNET | Detail |
| Association between C-589T polymorphisms of interleukin-4 gene promoter and asthma: a meta-analysis. | DisGeNET | Detail |
| Relationship between the IL-4 gene promoter -590C/T (rs2243250) polymorphism and susceptibility to a... | DisGeNET | Detail |
| Data from other studies show that the -589T/C polymorphism in IL-4 promoter may alter IL-4 expressio... | DisGeNET | Detail |
| Environmental tobacco smoke and interleukin 4 polymorphism (C-589T) gene: environment interaction in... | DisGeNET | Detail |
| Interleukin-4 -589C/T Polymorphism is Associated with Increased Pediatric Asthma Risk: A Meta-Analys... | DisGeNET | Detail |
| Interleukin-4 rs2243250 polymorphism is associated with asthma among Caucasians and related to atopi... | DisGeNET | Detail |
| This study aimed to examine the association between promoter polymorphisms of Th1 and Th2 cytokine g... | DisGeNET | Detail |
| The present study suggests that the IL-4 rs2243250 polymorphism might be associated with genetic sus... | DisGeNET | Detail |
| This study aimed to examine the association between promoter polymorphisms of Th1 and Th2 cytokine g... | DisGeNET | Detail |
| Association between the interleukin-4 gene C-589T and C+33T polymorphisms and asthma risk: a meta-an... | DisGeNET | Detail |
| However, we failed to reveal any association between IL-4 rs2243250 polymorphism and systemic lupus ... | DisGeNET | Detail |
| In contrast to a previous study, we found that the -589T polymorphism was associated with a delayed ... | DisGeNET | Detail |
| Association of TNF-alpha -308 G/A and IL-4 -589 C/T gene promoter polymorphisms with asthma suscepti... | DisGeNET | Detail |
| The interleukin-4 -589C/T polymorphism and the risk of asthma: a meta-analysis including 7,345 cases... | DisGeNET | Detail |
| However, we failed to reveal any association between IL-4 rs2243250 polymorphism and systemic lupus ... | DisGeNET | Detail |
| Interleukin-4 rs2243250 polymorphism is associated with asthma among Caucasians and related to atopi... | DisGeNET | Detail |
| However, we failed to reveal any association between IL-4 rs2243250 polymorphism and systemic lupus ... | DisGeNET | Detail |
| To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 87... | DisGeNET | Detail |
| To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 87... | DisGeNET | Detail |
| To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 87... | DisGeNET | Detail |
| To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 87... | DisGeNET | Detail |
| To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 87... | DisGeNET | Detail |
| To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 87... | DisGeNET | Detail |
| To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 87... | DisGeNET | Detail |
| To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 87... | DisGeNET | Detail |
| A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800750), IL-4R (rs18050... | DisGeNET | Detail |
| A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800750), IL-4R (rs18050... | DisGeNET | Detail |
| A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800750), IL-4R (rs18050... | DisGeNET | Detail |
| A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800750), IL-4R (rs18050... | DisGeNET | Detail |
| A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800750), IL-4R (rs18050... | DisGeNET | Detail |
| A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800750), IL-4R (rs18050... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs2243250 dbSNP
- Genome
- hg38
- Position
- chr5:132,673,462-132,673,462
- 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))
- rs2243250
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6655
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 11154
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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