chr16:27363079:A>G Detail (hg38) (IL4R)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:27,374,400-27,374,400 View the variant detail on this assembly version. |
| hg38 | chr16:27,363,079-27,363,079 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000418.3:c.1727A>G | NP_000409.1:p.Gln576Arg |
| NM_001257406.1:c.1727A>G | NP_001244335.1:p.Gln576Arg | |
| NM_001257407.1:c.1727A>G | NP_001244336.1:p.Gln576Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.136 |
| ToMMo:0.135 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.157 |
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 |
|---|---|---|---|---|---|
|
Benign
|
2005-02-01 | no assertion criteria provided | Atopy, resistance to |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.003 | Allergic disposition | Cutting edge: effects of an allergy-associated mutation in the human IL-4R alpha... | BeFree | 10201973 | Detail |
| 0.111 | asthma | Our findings indicate that the Q576R polymorphism directly promotes asthma in ca... | BeFree | 19770271 | Detail |
| 0.002 | Glioma | Interaction between IL-13 Arg130Gln and IL-4Ra Gln576Arg was observed in decreas... | BeFree | 21196282 | Detail |
| 0.005 | glioblastoma | The genotype AG of rs1801275 in the IL-4R gene showed an increase risk in over-d... | BeFree | 23663500 | 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 |
| 0.008 | Allergic disposition | Cutting edge: effects of an allergy-associated mutation in the human IL-4R alpha... | BeFree | 10201973 | Detail |
| <0.001 | Hypercholesterolemia, Familial | rs1801275 Interleukin-4 receptor alpha polymorphism in familial hypercholesterol... | BeFree | 25110223 | Detail |
| 0.111 | asthma | Polymorphisms in the interleukin-4 (C-590T), interleukin-4 receptor (ile50val an... | BeFree | 17284225 | Detail |
| 0.002 | Glioma | This meta-analysis suggests that the IL13 rs20541 but not the IL-4Rα rs1801275 p... | BeFree | 23395224 | Detail |
| 0.007 | Glioma | Interaction between IL-13 Arg130Gln and IL-4Ra Gln576Arg was observed in decreas... | BeFree | 21196282 | Detail |
| <0.001 | kidney failure | Four polymorphisms showed association with ESRD: rs1801275 in the interleukin 4 ... | BeFree | 22817530 | Detail |
| 0.120 | ATOPY, SUSCEPTIBILITY TO (finding) | NA | CLINVAR | Detail | |
| 0.007 | Inflammatory Bowel Diseases | We did not find any significant correlation between a 32-bp deletion variant of ... | BeFree | 11378820 | Detail |
| <0.001 | Kidney Failure, Chronic | Four polymorphisms showed association with ESRD: rs1801275 in the interleukin 4 ... | BeFree | 22817530 | Detail |
| 0.001 | Wheezing | Interestingly, the study of gene-environment interactions showed that rhinovirus... | BeFree | 25326706 | Detail |
| <0.001 | ulcerative colitis | We did not find any significant correlation between a 32-bp deletion variant of ... | BeFree | 11378820 | Detail |
| 0.207 | Kidney Failure, Chronic | Four polymorphisms showed association with ESRD: rs1801275 in the interleukin 4 ... | BeFree | 22817530 | Detail |
| <0.001 | Cardiovascular Diseases | The multivariate analysis found association (odds ratio: 95% confidence interval... | BeFree | 25110223 | Detail |
| 0.006 | Rheumatoid Nodule | We found that IL4R SNPs, rs1801275 and rs1805010, are associated with rheumatoid... | BeFree | 20444266 | Detail |
| 0.001 | ulcerative colitis | We did not find any significant correlation between a 32-bp deletion variant of ... | BeFree | 11378820 | Detail |
| 0.002 | kidney failure | Four polymorphisms showed association with ESRD: rs1801275 in the interleukin 4 ... | BeFree | 22817530 | Detail |
| <0.001 | Wheezing | Interestingly, the study of gene-environment interactions showed that rhinovirus... | BeFree | 25326706 | Detail |
| 0.055 | asthma | To investigate whether the single-nucleotide polymorphisms (SNPs) Ile75Val and G... | BeFree | 22533235 | Detail |
| 0.003 | Allergic disposition | Therefore, in a robust design, we tested for association of type I allergy to th... | BeFree | 11488673 | Detail |
| 0.002 | Glioma | Our meta-analysis suggests that the polymorphism of IL-4Rα rs1801275 but not IL-... | BeFree | 23979976 | Detail |
| 0.006 | Inflammatory Bowel Diseases | We did not find any significant correlation between a 32-bp deletion variant of ... | BeFree | 11378820 | Detail |
| 0.019 | breast carcinoma | Multivariate logistic regression found SNPs in genes important for T helper type... | BeFree | 23996684 | Detail |
| <0.001 | Malignant neoplasm of breast | Multivariate logistic regression found SNPs in genes important for T helper type... | BeFree | 23996684 | Detail |
| <0.001 | breast carcinoma | Multivariate logistic regression found SNPs in genes important for T helper type... | BeFree | 23996684 | Detail |
| 0.090 | Malignant neoplasm of breast | Multivariate logistic regression found SNPs in genes important for T helper type... | BeFree | 23996684 | Detail |
| 0.005 | Malignant neoplasm of breast | Multivariate logistic regression found SNPs in genes important for T helper type... | BeFree | 23996684 | Detail |
| <0.001 | breast carcinoma | Multivariate logistic regression found SNPs in genes important for T helper type... | BeFree | 23996684 | Detail |
| <0.001 | Malignant neoplasm of breast | Multivariate logistic regression found SNPs in genes important for T helper type... | BeFree | 23996684 | Detail |
| <0.001 | breast carcinoma | Multivariate logistic regression found SNPs in genes important for T helper type... | BeFree | 23996684 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000418.4(IL4R):c.1727A>G (p.Gln576Arg) AND Atopy, resistance to | ClinVar | Detail |
| Cutting edge: effects of an allergy-associated mutation in the human IL-4R alpha (Q576R) on human IL... | DisGeNET | Detail |
| Our findings indicate that the Q576R polymorphism directly promotes asthma in carrier populations by... | DisGeNET | Detail |
| Interaction between IL-13 Arg130Gln and IL-4Ra Gln576Arg was observed in decreasing glioma risk (p=0... | DisGeNET | Detail |
| The genotype AG of rs1801275 in the IL-4R gene showed an increase risk in over-dominant model (OR = ... | 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 |
| Cutting edge: effects of an allergy-associated mutation in the human IL-4R alpha (Q576R) on human IL... | DisGeNET | Detail |
| rs1801275 Interleukin-4 receptor alpha polymorphism in familial hypercholesterolemia. | DisGeNET | Detail |
| Polymorphisms in the interleukin-4 (C-590T), interleukin-4 receptor (ile50val and gln576arg), and in... | DisGeNET | Detail |
| This meta-analysis suggests that the IL13 rs20541 but not the IL-4Rα rs1801275 polymorphism may be a... | DisGeNET | Detail |
| Interaction between IL-13 Arg130Gln and IL-4Ra Gln576Arg was observed in decreasing glioma risk (p=0... | DisGeNET | Detail |
| Four polymorphisms showed association with ESRD: rs1801275 in the interleukin 4 receptor (IL4R) gene... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We did not find any significant correlation between a 32-bp deletion variant of CCR5 or a single nuc... | DisGeNET | Detail |
| Four polymorphisms showed association with ESRD: rs1801275 in the interleukin 4 receptor (IL4R) gene... | DisGeNET | Detail |
| Interestingly, the study of gene-environment interactions showed that rhinovirus was significantly a... | DisGeNET | Detail |
| We did not find any significant correlation between a 32-bp deletion variant of CCR5 or a single nuc... | DisGeNET | Detail |
| Four polymorphisms showed association with ESRD: rs1801275 in the interleukin 4 receptor (IL4R) gene... | DisGeNET | Detail |
| The multivariate analysis found association (odds ratio: 95% confidence interval) between CVD and sm... | DisGeNET | Detail |
| We found that IL4R SNPs, rs1801275 and rs1805010, are associated with rheumatoid nodules in autoanti... | DisGeNET | Detail |
| We did not find any significant correlation between a 32-bp deletion variant of CCR5 or a single nuc... | DisGeNET | Detail |
| Four polymorphisms showed association with ESRD: rs1801275 in the interleukin 4 receptor (IL4R) gene... | DisGeNET | Detail |
| Interestingly, the study of gene-environment interactions showed that rhinovirus was significantly a... | DisGeNET | Detail |
| To investigate whether the single-nucleotide polymorphisms (SNPs) Ile75Val and Gln576Arg in the IL4R... | DisGeNET | Detail |
| Therefore, in a robust design, we tested for association of type I allergy to the IL4R variations I5... | DisGeNET | Detail |
| Our meta-analysis suggests that the polymorphism of IL-4Rα rs1801275 but not IL-4Rα rs1805015 plays ... | DisGeNET | Detail |
| We did not find any significant correlation between a 32-bp deletion variant of CCR5 or a single nuc... | DisGeNET | Detail |
| Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (I... | DisGeNET | Detail |
| Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (I... | DisGeNET | Detail |
| Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (I... | DisGeNET | Detail |
| Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (I... | DisGeNET | Detail |
| Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (I... | DisGeNET | Detail |
| Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (I... | DisGeNET | Detail |
| Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (I... | DisGeNET | Detail |
| Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (I... | 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
- rs1801275 dbSNP
- Genome
- hg38
- Position
- chr16:27,363,079-27,363,079
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1208
- Mean of sample read depth (HGVD)
- 196.16
- Standard deviation of sample read depth (HGVD)
- 88.93
- Number of reference allele (HGVD)
- 2085
- Number of alternative allele (HGVD)
- 329
- Allele Frequency (HGVD)
- 0.13628831814415907
- Gene Symbol (HGVD)
- IL4R
- 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))
- rs1801275
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1353
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2268
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8604
- East Asian Allele Counts (ExAC)
- 1353
- East Asian Heterozygous Counts (ExAC)
- 1175
- East Asian Homozygous Counts (ExAC)
- 89
- East Asian Allele Frequency (ExAC)
- 0.15725244072524408
- Chromosome Counts in All Race (ExAC)
- 119632
- Allele Counts in All Race (ExAC)
- 30479
- Heterozygous Counts in All Race (ExAC)
- 20411
- Homozygous Counts in All Race (ExAC)
- 5034
- Allele Frequency in All Race (ExAC)
- 0.2547729704426909
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