chr5:132657117:C>T Detail (hg38) (IL13)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:131,992,809-131,992,809 View the variant detail on this assembly version. |
| hg38 | chr5:132,657,117-132,657,117 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.189 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
risk factor
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
risk factor
|
2005-05-15 | no assertion criteria provided | Inherited susceptibility to asthma |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Hay fever | Of 60 tagging single-nucleotide polymorphisms covering eight genes (CSF2, IL3, I... | BeFree | 21071541 | Detail |
| 0.008 | Hay fever | Of 60 tagging single-nucleotide polymorphisms covering eight genes (CSF2, IL3, I... | BeFree | 21071541 | Detail |
| 0.003 | Hay fever | Of 60 tagging single-nucleotide polymorphisms covering eight genes (CSF2, IL3, I... | BeFree | 21071541 | Detail |
| <0.001 | Esophageal Neoplasms | We conducted a hospital based case-control study to evaluate the genetic effects... | BeFree | 23886125 | Detail |
| 0.005 | Esophageal Neoplasms | We conducted a hospital based case-control study to evaluate the genetic effects... | BeFree | 23886125 | Detail |
| <0.001 | esophageal carcinoma | We conducted a hospital based case-control study to evaluate the genetic effects... | BeFree | 23886125 | Detail |
| 0.008 | Malignant neoplasm of esophagus | We conducted a hospital based case-control study to evaluate the genetic effects... | BeFree | 23886125 | Detail |
| <0.001 | hepatitis B | This study was undertaken to determine the relationship between two IL-13 gene s... | BeFree | 25658755 | Detail |
| 0.001 | malaria | Only rs1881457 located in the promoter region of IL13, which is in linkage diseq... | BeFree | 19840389 | Detail |
| 0.133 | Allergic rhinitis (disorder) | Association of interleukin-13 SNP rs1800925 with allergic rhinitis risk: a meta-... | BeFree | 22750299 | Detail |
| 0.021 | asthma | IL13 SNPs rs1881457(-1512) and rs1800925(-1111) were associated with better FEV(... | BeFree | 19796199 | Detail |
| 0.005 | Schistosoma hematobium infection | Two functional polymorphisms in IL13, rs1800925 (or c.1-1111C>T) and rs20541 ... | BeFree | 22574126 | Detail |
| 0.007 | Glioma | Our meta-analysis suggests that the IL13 rs20541 polymorphism contributes to sus... | BeFree | 23246181 | Detail |
| 0.004 | Idiopathic Pulmonary Fibrosis | Association of the SNP rs1800925(C/T) in the interleukin-13 gene promoter with p... | BeFree | 23549736 | Detail |
| <0.001 | Allergic rhinitis (disorder) | IL13 SNP rs1800925 and IL4R SNP 1801275 did not demonstrate overall associations... | BeFree | 21309855 | Detail |
| 0.251 | psoriasis | A multitiered genetic association study of 25 215 single-nucleotide polymorphism... | BeFree | 18075513 | Detail |
| 0.001 | Idiopathic Pulmonary Fibrosis | Association of the SNP rs1800925(C/T) in the interleukin-13 gene promoter with p... | BeFree | 23549736 | Detail |
| <0.001 | Helicobacter pylori infection | Borderline significant associations were seen between IL2-330G (rs2069762) (OR 1... | BeFree | 21649724 | Detail |
| 0.001 | Helicobacter pylori infection | Borderline significant associations were seen between IL2-330G (rs2069762) (OR 1... | BeFree | 21649724 | Detail |
| 0.491 | asthma | IL13 encodes IL-13, a Th2 cytokine, and rs1800925 and rs20541 confer risk of ast... | BeFree | 19554022 | Detail |
| 0.133 | Allergic rhinitis (disorder) | However, a recent meta-analysis using data from these 6 studies has shown that t... | BeFree | 22023794 | Detail |
| 0.251 | psoriasis | We examined the association between IL13 polymorphisms, smoking, and PsA in two ... | BeFree | 19554022 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001354991.2(IL13):c.-93+487C>T AND Inherited susceptibility to asthma | ClinVar | Detail |
| Of 60 tagging single-nucleotide polymorphisms covering eight genes (CSF2, IL3, IL4, IL13, CSF2RB, IL... | DisGeNET | Detail |
| Of 60 tagging single-nucleotide polymorphisms covering eight genes (CSF2, IL3, IL4, IL13, CSF2RB, IL... | DisGeNET | Detail |
| Of 60 tagging single-nucleotide polymorphisms covering eight genes (CSF2, IL3, IL4, IL13, CSF2RB, IL... | DisGeNET | Detail |
| We conducted a hospital based case-control study to evaluate the genetic effects of functional singl... | DisGeNET | Detail |
| We conducted a hospital based case-control study to evaluate the genetic effects of functional singl... | DisGeNET | Detail |
| We conducted a hospital based case-control study to evaluate the genetic effects of functional singl... | DisGeNET | Detail |
| We conducted a hospital based case-control study to evaluate the genetic effects of functional singl... | DisGeNET | Detail |
| This study was undertaken to determine the relationship between two IL-13 gene single nucleotide pol... | DisGeNET | Detail |
| Only rs1881457 located in the promoter region of IL13, which is in linkage disequilibrium with rs180... | DisGeNET | Detail |
| Association of interleukin-13 SNP rs1800925 with allergic rhinitis risk: a meta-analysis based on 1,... | DisGeNET | Detail |
| IL13 SNPs rs1881457(-1512) and rs1800925(-1111) were associated with better FEV(1) and FEV(1)/FVC in... | DisGeNET | Detail |
| Two functional polymorphisms in IL13, rs1800925 (or c.1-1111C>T) and rs20541 (or R130Q) were prev... | DisGeNET | Detail |
| Our meta-analysis suggests that the IL13 rs20541 polymorphism contributes to susceptibility to cance... | DisGeNET | Detail |
| Association of the SNP rs1800925(C/T) in the interleukin-13 gene promoter with pulmonary function in... | DisGeNET | Detail |
| IL13 SNP rs1800925 and IL4R SNP 1801275 did not demonstrate overall associations with AR. | DisGeNET | Detail |
| A multitiered genetic association study of 25 215 single-nucleotide polymorphisms (SNPs) in three ca... | DisGeNET | Detail |
| Association of the SNP rs1800925(C/T) in the interleukin-13 gene promoter with pulmonary function in... | DisGeNET | Detail |
| Borderline significant associations were seen between IL2-330G (rs2069762) (OR 1.45, 95% CI 0.95, 2.... | DisGeNET | Detail |
| Borderline significant associations were seen between IL2-330G (rs2069762) (OR 1.45, 95% CI 0.95, 2.... | DisGeNET | Detail |
| IL13 encodes IL-13, a Th2 cytokine, and rs1800925 and rs20541 confer risk of asthma. | DisGeNET | Detail |
| However, a recent meta-analysis using data from these 6 studies has shown that the A allele of IL13 ... | DisGeNET | Detail |
| We examined the association between IL13 polymorphisms, smoking, and PsA in two Ps sample sets genot... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1800925 dbSNP
- Genome
- hg38
- Position
- chr5:132,657,117-132,657,117
- 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))
- rs1800925
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1891
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3169
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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