chr5:131995964:A>G Detail (hg19) (IL13)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:131,995,964-131,995,964 |
| hg38 | chr5:132,660,272-132,660,272 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002188.2:c.431A>G | NP_002179.2:p.Gln144Arg |
| Ensemble | ENST00000304506.7:c.431A>G | ENST00000304506.7:p.Gln144Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.704 |
| ToMMo:0.692 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.672 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
risk factor
|
2005-03-01 | no assertion criteria provided | Inherited susceptibility to asthma |
germline
|
Detail |
|
risk factor
|
2005-03-01 | no assertion criteria provided | Allergic rhinitis, susceptibility to |
germline
|
Detail |
|
Benign
|
2019-10-16 | criteria provided, single submitter | IL13-related disorder |
germline
|
Detail |
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 |
| 0.006 | Mucosa-Associated Lymphoid Tissue Lymphoma | After stratification by common B-cell lymphoma subtypes, a significant interacti... | BeFree | 20952689 | Detail |
| 0.021 | chronic lymphocytic leukemia | After stratification by common B-cell lymphoma subtypes, a significant interacti... | BeFree | 20952689 | Detail |
| 0.007 | Lymphoma, Follicular | After stratification by common B-cell lymphoma subtypes, a significant interacti... | BeFree | 20952689 | Detail |
| 0.009 | glioblastoma | In the genetic model analysis, the genotype TC of rs20541 in IL-13 gene showed a... | BeFree | 23663500 | Detail |
| <0.001 | glioblastoma | In the genetic model analysis, the genotype TC of rs20541 in IL-13 gene showed a... | BeFree | 23663500 | Detail |
| 0.007 | Glioma | In the single-locus analysis of the 23 examined SNPs, 1 pro-inflammatory and 2 a... | BeFree | 20406895 | Detail |
| 0.134 | Glioma | In the single-locus analysis of the 23 examined SNPs, 1 pro-inflammatory and 2 a... | BeFree | 20406895 | Detail |
| 0.003 | Glioma | In the single-locus analysis of the 23 examined SNPs, 1 pro-inflammatory and 2 a... | BeFree | 20406895 | Detail |
| <0.001 | hepatitis B | This study was undertaken to determine the relationship between two IL-13 gene s... | BeFree | 25658755 | 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 |
| 0.251 | psoriasis | A multitiered genetic association study of 25 215 single-nucleotide polymorphism... | BeFree | 18075513 | 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 |
| 0.002 | Glioma | This meta-analysis suggests that the IL13 rs20541 but not the IL-4Rα rs1801275 p... | BeFree | 23395224 | Detail |
| <0.001 | Huntington disease | We searched for an association between the interleukin 4 receptor gene (IL4R) rs... | BeFree | 23462527 | Detail |
| 0.007 | Hodgkin Disease | We searched for an association between the interleukin 4 receptor gene (IL4R) rs... | BeFree | 23462527 | Detail |
| <0.001 | Huntington disease | We searched for an association between the interleukin 4 receptor gene (IL4R) rs... | BeFree | 23462527 | Detail |
| 0.130 | Hodgkin Disease | We searched for an association between the interleukin 4 receptor gene (IL4R) rs... | BeFree | 23462527 | Detail |
| 0.006 | Allergic rhinitis (disorder) | Antibiotic and mold exposure in infancy, GA or AA genotypes of IL-13 (rs20541) (... | BeFree | 24973272 | Detail |
| 0.002 | Wheezing | There was a statistically significant association between the IL-13 Arg144Gln po... | BeFree | 19674346 | Detail |
| 0.133 | Allergic rhinitis (disorder) | Gene-environment interactions between IL-13 (rs20541) and antibiotics or mold ma... | BeFree | 24973272 | Detail |
| 0.001 | colorectal carcinoma | Patients carrying the TCF7L2_rs7903146_T allele had an increased risk of CRC (P(... | BeFree | 22419714 | Detail |
| 0.251 | psoriasis | [Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB path... | GAD | 19169254 | Detail |
| 0.491 | asthma | Evidence for an association between EBV-negative cHL and rs20541 (5q31, IL13: OR... | BeFree | 22286212 | Detail |
| 0.133 | Allergic rhinitis (disorder) | We conclude that there is evidence for an overall association between IL13 SNP r... | BeFree | 21309855 | Detail |
| 0.251 | psoriasis | Evidence for an association between EBV-negative cHL and rs20541 (5q31, IL13: OR... | BeFree | 22286212 | Detail |
| 0.130 | Hodgkin Disease | Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr vir... | GWASCAT | 22286212 | Detail |
| 0.001 | colorectal cancer | Patients carrying the TCF7L2_rs7903146_T allele had an increased risk of CRC (P(... | BeFree | 22419714 | Detail |
| 0.130 | Hodgkin Disease | [Overall, these results provide strong evidence that EBV status is an etiologica... | GAD | 22286212 | Detail |
| 0.120 | ASTHMA, SUSCEPTIBILITY TO (finding) | NA | CLINVAR | Detail | |
| 0.491 | asthma | The minor allele T of rs20541 in IL13 is the risk allele for asthma but the prot... | BeFree | 22694930 | Detail |
| 0.251 | psoriasis | The minor allele T of rs20541 in IL13 is the risk allele for asthma but the prot... | BeFree | 22694930 | Detail |
| 0.251 | psoriasis | Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathw... | GWASCAT | 19169254 | Detail |
| 0.133 | Allergic rhinitis (disorder) | Association of interleukin-13 SNP rs20541 with allergic rhinitis risk: a meta-an... | BeFree | 23545317 | Detail |
| 0.133 | Allergic rhinitis (disorder) | Association of interleukin-13 SNP rs20541 (Arg>Gln) to allergic rhinitis in a... | BeFree | 23954258 | Detail |
| <0.001 | arthritis | The authors genotyped three groups of Caucasians: those with PsA, those with pso... | BeFree | 21613309 | Detail |
| <0.001 | Lymphoma, Large-Cell, Follicular | Interleukin 13 (IL13) Ex4+98A>G SNP (rs20541) was associated with decreased N... | BeFree | 19533685 | Detail |
| <0.001 | Lymphoma, Non-Hodgkin | Interleukin 13 (IL13) Ex4+98A>G SNP (rs20541) was associated with decreased N... | BeFree | 19533685 | Detail |
| <0.001 | Lymphoma, Large-Cell, Follicular | Interleukin 13 (IL13) Ex4+98A>G SNP (rs20541) was associated with decreased N... | BeFree | 19533685 | Detail |
| 0.003 | Lymphoma, Non-Hodgkin | Interleukin 13 (IL13) Ex4+98A>G SNP (rs20541) was associated with decreased N... | BeFree | 19533685 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002188.3(IL13):c.431A>G (p.Gln144Arg) AND Inherited susceptibility to asthma | ClinVar | Detail |
| NM_002188.3(IL13):c.431A>G (p.Gln144Arg) AND Allergic rhinitis, susceptibility to | ClinVar | Detail |
| NM_002188.3(IL13):c.431A>G (p.Gln144Arg) AND IL13-related disorder | ClinVar | 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 |
| To investigate associations between total serum immunoglobulin E (IgE) levels and single nucleotide ... | DisGeNET | Detail |
| After stratification by common B-cell lymphoma subtypes, a significant interaction was observed for ... | DisGeNET | Detail |
| After stratification by common B-cell lymphoma subtypes, a significant interaction was observed for ... | DisGeNET | Detail |
| After stratification by common B-cell lymphoma subtypes, a significant interaction was observed for ... | DisGeNET | Detail |
| In the genetic model analysis, the genotype TC of rs20541 in IL-13 gene showed an increased risk of ... | DisGeNET | Detail |
| In the genetic model analysis, the genotype TC of rs20541 in IL-13 gene showed an increased risk of ... | DisGeNET | Detail |
| In the single-locus analysis of the 23 examined SNPs, 1 pro-inflammatory and 2 anti-inflammatory gen... | DisGeNET | Detail |
| In the single-locus analysis of the 23 examined SNPs, 1 pro-inflammatory and 2 anti-inflammatory gen... | DisGeNET | Detail |
| In the single-locus analysis of the 23 examined SNPs, 1 pro-inflammatory and 2 anti-inflammatory gen... | DisGeNET | Detail |
| This study was undertaken to determine the relationship between two IL-13 gene single nucleotide pol... | 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 |
| A multitiered genetic association study of 25 215 single-nucleotide polymorphisms (SNPs) in three ca... | 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 |
| This meta-analysis suggests that the IL13 rs20541 but not the IL-4Rα rs1801275 polymorphism may be a... | DisGeNET | Detail |
| We searched for an association between the interleukin 4 receptor gene (IL4R) rs1805015 and interleu... | DisGeNET | Detail |
| We searched for an association between the interleukin 4 receptor gene (IL4R) rs1805015 and interleu... | DisGeNET | Detail |
| We searched for an association between the interleukin 4 receptor gene (IL4R) rs1805015 and interleu... | DisGeNET | Detail |
| We searched for an association between the interleukin 4 receptor gene (IL4R) rs1805015 and interleu... | DisGeNET | Detail |
| Antibiotic and mold exposure in infancy, GA or AA genotypes of IL-13 (rs20541) (aOR 4.53; 95% CI, 1.... | DisGeNET | Detail |
| There was a statistically significant association between the IL-13 Arg144Gln polymorphism and risk ... | DisGeNET | Detail |
| Gene-environment interactions between IL-13 (rs20541) and antibiotics or mold may play a role in AR. | DisGeNET | Detail |
| Patients carrying the TCF7L2_rs7903146_T allele had an increased risk of CRC (P(trend) = 0.02), wher... | DisGeNET | Detail |
| [Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.] | DisGeNET | Detail |
| Evidence for an association between EBV-negative cHL and rs20541 (5q31, IL13: OR = 1.53, 95% CI = 1.... | DisGeNET | Detail |
| We conclude that there is evidence for an overall association between IL13 SNP rs20541 and increased... | DisGeNET | Detail |
| Evidence for an association between EBV-negative cHL and rs20541 (5q31, IL13: OR = 1.53, 95% CI = 1.... | DisGeNET | Detail |
| Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined su... | DisGeNET | Detail |
| Patients carrying the TCF7L2_rs7903146_T allele had an increased risk of CRC (P(trend) = 0.02), wher... | DisGeNET | Detail |
| [Overall, these results provide strong evidence that EBV status is an etiologically important classi... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The minor allele T of rs20541 in IL13 is the risk allele for asthma but the protective allele for ps... | DisGeNET | Detail |
| The minor allele T of rs20541 in IL13 is the risk allele for asthma but the protective allele for ps... | DisGeNET | Detail |
| Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. | DisGeNET | Detail |
| Association of interleukin-13 SNP rs20541 with allergic rhinitis risk: a meta-analysis. | DisGeNET | Detail |
| Association of interleukin-13 SNP rs20541 (Arg>Gln) to allergic rhinitis in an Asian population o... | DisGeNET | Detail |
| The authors genotyped three groups of Caucasians: those with PsA, those with psoriasis without arthr... | DisGeNET | Detail |
| Interleukin 13 (IL13) Ex4+98A>G SNP (rs20541) was associated with decreased NHL risk (OR(AG/AA) =... | DisGeNET | Detail |
| Interleukin 13 (IL13) Ex4+98A>G SNP (rs20541) was associated with decreased NHL risk (OR(AG/AA) =... | DisGeNET | Detail |
| Interleukin 13 (IL13) Ex4+98A>G SNP (rs20541) was associated with decreased NHL risk (OR(AG/AA) =... | DisGeNET | Detail |
| Interleukin 13 (IL13) Ex4+98A>G SNP (rs20541) was associated with decreased NHL risk (OR(AG/AA) =... | 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
- rs20541 dbSNP
- Genome
- hg19
- Position
- chr5:131,995,964-131,995,964
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 67.59
- Standard deviation of sample read depth (HGVD)
- 33.33
- Number of reference allele (HGVD)
- 716
- Number of alternative allele (HGVD)
- 1703
- Allele Frequency (HGVD)
- 0.7040099214551467
- Gene Symbol (HGVD)
- IL13
- 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))
- rs20541
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6924
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 11604
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8588
- East Asian Allele Counts (ExAC)
- 5774
- East Asian Heterozygous Counts (ExAC)
- 1944
- East Asian Homozygous Counts (ExAC)
- 1915
- East Asian Allele Frequency (ExAC)
- 0.6723334885887284
- Chromosome Counts in All Race (ExAC)
- 121052
- Allele Counts in All Race (ExAC)
- 88807
- Heterozygous Counts in All Race (ExAC)
- 21909
- Homozygous Counts in All Race (ExAC)
- 33449
- Allele Frequency in All Race (ExAC)
- 0.7336268710967188
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