chr2:112837290:A>G Detail (hg38) (IL1B)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:113,594,867-113,594,867 View the variant detail on this assembly version. |
| hg38 | chr2:112,837,290-112,837,290 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.555 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
association
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
association
|
2020-02-11 | no assertion criteria provided | antisynthetase syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.002 | Rectal Carcinoma | Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCR... | BeFree | 25304949 | Detail |
| 0.026 | Degenerative polyarthritis | A 3-single-nucleotide polymorphism (SNP) IL1B-IL1RN haplotype rs1143627-rs16944-... | BeFree | 19733643 | Detail |
| 0.256 | Degenerative polyarthritis | A 3-single-nucleotide polymorphism (SNP) IL1B-IL1RN haplotype rs1143627-rs16944-... | BeFree | 19733643 | Detail |
| <0.001 | Rectal Carcinoma | Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCR... | BeFree | 25304949 | Detail |
| <0.001 | Rectal Carcinoma | Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCR... | BeFree | 25304949 | Detail |
| <0.001 | Rectal Carcinoma | Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCR... | BeFree | 25304949 | Detail |
| 0.001 | colorectal carcinoma | We investigated whether IL-1B -511C>T (rs16944), IL-1B +3954C>T (rs1143634... | BeFree | 23192617 | Detail |
| 0.001 | Osteoarthritis of hip | The meta-analysis of six published studies retrieved from the literature search ... | BeFree | 21146623 | Detail |
| 0.010 | Gingival Diseases | We investigated associations between three IL1 single-nucleotide polymorphisms (... | BeFree | 24460370 | Detail |
| 0.080 | Diabetes | The haplotype ACG of rs1143634, rs3917356, and rs16944 associated with higher gl... | BeFree | 19820020 | Detail |
| 0.029 | Periodontal Diseases | We investigated associations between three IL1 single-nucleotide polymorphisms (... | BeFree | 24460370 | Detail |
| 0.026 | Degenerative polyarthritis | Haplotype analyses revealed gender disparities and showed that women carriers of... | BeFree | 23216199 | Detail |
| <0.001 | diabetes mellitus | The haplotype ACG of rs1143634, rs3917356, and rs16944 associated with higher gl... | BeFree | 19820020 | Detail |
| <0.001 | Diabetes | The haplotype ACG of rs1143634, rs3917356, and rs16944 associated with higher gl... | BeFree | 19820020 | Detail |
| 0.022 | ankylosing spondylitis | Polymorphisms of IL1α rs1800587, IL1β rs16944 and IL1β rs1143634 were not signif... | BeFree | 22285486 | Detail |
| 0.015 | ankylosing spondylitis | Polymorphisms of IL1α rs1800587, IL1β rs16944 and IL1β rs1143634 were not signif... | BeFree | 22285486 | Detail |
| 0.295 | diabetes mellitus | The haplotype ACG of rs1143634, rs3917356, and rs16944 associated with higher gl... | BeFree | 19820020 | Detail |
| 0.006 | colorectal cancer | We investigated whether IL-1B -511C>T (rs16944), IL-1B +3954C>T (rs1143634... | BeFree | 23192617 | Detail |
| 0.023 | ankylosing spondylitis | This study's purpose is to investigate the association of ankylosing spondylitis... | BeFree | 22285486 | Detail |
| <0.001 | Fatigue | The associations between fatigue and SNPs in inflammation-related genes; IL1β (r... | BeFree | 21496483 | Detail |
| 0.014 | Chronic Obstructive Airway Disease | Genetic polymorphisms of surfactant protein D rs2243639, Interleukin (IL)-1β rs1... | BeFree | 24504887 | Detail |
| 0.005 | gastric adenocarcinoma | To investigate the potential association between five cytokine promoter polymorp... | BeFree | 22891178 | Detail |
| 0.009 | Carcinoma of lung | We evaluated the role of tumor necrosis factor α (TNFA) rs1799724, interleukin 1... | BeFree | 24139238 | Detail |
| 0.003 | Mycobacterium Infections | [Dominance of environmental factors over genetic ones and insufficient sample si... | GAD | 20399512 | Detail |
| 0.001 | epilepsy | To understand the role of genes encoding pro-inflammatory cytokines in epilepsy,... | BeFree | 22578659 | Detail |
| <0.001 | craniosynostosis | To replicate and extend recent findings in a Turkish population of associations ... | BeFree | 20157068 | Detail |
| 0.026 | multiple sclerosis | Single nucleotide polymorphisms in human pro- and anti-inflammatory genes, inclu... | BeFree | 21621860 | Detail |
| 0.001 | gastric adenocarcinoma | To investigate the potential association between five cytokine promoter polymorp... | BeFree | 22891178 | Detail |
| 0.070 | cervix carcinoma | Persistent HPV16/18 infection in Indian women with the A-allele (rs6457617) of H... | BeFree | 25893807 | Detail |
| <0.001 | Chronic sinusitis | To replicate and extend recent findings in a Turkish population of associations ... | BeFree | 20157068 | Detail |
| <0.001 | gastric adenocarcinoma | To investigate the potential association between five cytokine promoter polymorp... | BeFree | 22891178 | Detail |
| 0.008 | Nasal Polyps | To replicate and extend recent findings in a Turkish population of associations ... | BeFree | 20157068 | Detail |
| 0.078 | Malignant neoplasm of lung | We evaluated the role of tumor necrosis factor α (TNFA) rs1799724, interleukin 1... | BeFree | 24139238 | Detail |
| <0.001 | carpal tunnel syndrome | One hundred and three self-reported Coloured participants, with a history of car... | BeFree | 25813875 | Detail |
| 0.002 | epilepsy | To understand the role of genes encoding pro-inflammatory cytokines in epilepsy,... | BeFree | 22578659 | Detail |
| 0.003 | lymphadenitis | [We found a positive association between NTM lymphadenitis and +3953TT in IL1B (... | GAD | 20399512 | Detail |
| <0.001 | Allergic rhinitis (disorder) | Patients who were homozygous for the T allele of rs16944 in IL1B had an 8.1-fold... | BeFree | 24654309 | Detail |
| 0.082 | Seizures | To understand the role of genes encoding pro-inflammatory cytokines in epilepsy,... | BeFree | 22578659 | Detail |
| <0.001 | Squamous cell carcinoma of esophagus | These findings indicated that the functional IL1B rs16944 G>A polymorphism mi... | BeFree | 23726808 | Detail |
| <0.001 | craniosynostosis | To replicate and extend recent findings in a Turkish population of associations ... | BeFree | 20157068 | Detail |
| <0.001 | Sensorineural Hearing Loss (disorder) | The genotypes of interleukin 1A (IL1A) (-889C/T; rs1800587) and interleukin 1B (... | BeFree | 21385326 | Detail |
| 0.009 | schizophrenia | Association study of IL10, IL1beta, and IL1RN and schizophrenia using tag SNPs f... | BeFree | 16905295 | Detail |
| 0.010 | Nasal Polyps | To replicate and extend recent findings in a Turkish population of associations ... | BeFree | 20157068 | Detail |
| <0.001 | carpal tunnel syndrome | One hundred and three self-reported Coloured participants, with a history of car... | BeFree | 25813875 | Detail |
| 0.204 | Seizures | To understand the role of genes encoding pro-inflammatory cytokines in epilepsy,... | BeFree | 22578659 | Detail |
| 0.002 | gastric adenocarcinoma | To investigate the potential association between five cytokine promoter polymorp... | BeFree | 22891178 | Detail |
| 0.044 | Malignant neoplasm of lung | [When numeric scores were assigned to both the SNP and demographic data, and seq... | GAD | 19789190 | Detail |
| 0.001 | Depressive Symptoms | The aim of the present study was to investigate a trio of functional SNPs in the... | BeFree | 25596176 | Detail |
| 0.121 | Seizures | To understand the role of genes encoding pro-inflammatory cytokines in epilepsy,... | BeFree | 22578659 | Detail |
| 0.028 | schizophrenia | Association study of IL10, IL1beta, and IL1RN and schizophrenia using tag SNPs f... | BeFree | 16905295 | Detail |
| 0.013 | multiple sclerosis | Single nucleotide polymorphisms in human pro- and anti-inflammatory genes, inclu... | BeFree | 21621860 | Detail |
| 0.002 | Fatigue | IL1B-511 (rs16944) genotype did not significantly predict changes in fatigue (p ... | BeFree | 22475653 | Detail |
| 0.178 | periodontitis | [Dominance of environmental factors over genetic ones and insufficient sample si... | GAD | 20399512 | Detail |
| 0.021 | Chronic Obstructive Airway Disease | The primary aim of this study was to investigate the association between surfact... | BeFree | 24504887 | Detail |
| 0.008 | cervix carcinoma | Persistent HPV16/18 infection in Indian women with the A-allele (rs6457617) of H... | BeFree | 25893807 | Detail |
| <0.001 | carpal tunnel syndrome | One hundred and three self-reported Coloured participants, with a history of car... | BeFree | 25813875 | Detail |
| <0.001 | Chronic sinusitis | To replicate and extend recent findings in a Turkish population of associations ... | BeFree | 20157068 | Detail |
| <0.001 | 5,10-Methylenetetrahydrofolate reductase deficiency | With the aim to conclusively validate the strongest associations so far reported... | BeFree | 24521996 | Detail |
| <0.001 | 5,10-Methylenetetrahydrofolate reductase deficiency | With the aim to conclusively validate the strongest associations so far reported... | BeFree | 24521996 | Detail |
| <0.001 | 5,10-Methylenetetrahydrofolate reductase deficiency | With the aim to conclusively validate the strongest associations so far reported... | BeFree | 24521996 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_000002.12:g.112837290A>G AND Antisynthetase syndrome | ClinVar | Detail |
| Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCRT was genotyped for ... | DisGeNET | Detail |
| A 3-single-nucleotide polymorphism (SNP) IL1B-IL1RN haplotype rs1143627-rs16944-rs419598 showed a tr... | DisGeNET | Detail |
| A 3-single-nucleotide polymorphism (SNP) IL1B-IL1RN haplotype rs1143627-rs16944-rs419598 showed a tr... | DisGeNET | Detail |
| Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCRT was genotyped for ... | DisGeNET | Detail |
| Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCRT was genotyped for ... | DisGeNET | Detail |
| Genomic DNA of 159 patients with locally advanced rectal cancer treated with PCRT was genotyped for ... | DisGeNET | Detail |
| We investigated whether IL-1B -511C>T (rs16944), IL-1B +3954C>T (rs1143634) and IL1-RN +2018T&... | DisGeNET | Detail |
| The meta-analysis of six published studies retrieved from the literature search and eight unpublishe... | DisGeNET | Detail |
| We investigated associations between three IL1 single-nucleotide polymorphisms (SNPs) in genes encod... | DisGeNET | Detail |
| The haplotype ACG of rs1143634, rs3917356, and rs16944 associated with higher glucose, higher homeos... | DisGeNET | Detail |
| We investigated associations between three IL1 single-nucleotide polymorphisms (SNPs) in genes encod... | DisGeNET | Detail |
| Haplotype analyses revealed gender disparities and showed that women carriers of the 1-2-1-1 haploty... | DisGeNET | Detail |
| The haplotype ACG of rs1143634, rs3917356, and rs16944 associated with higher glucose, higher homeos... | DisGeNET | Detail |
| The haplotype ACG of rs1143634, rs3917356, and rs16944 associated with higher glucose, higher homeos... | DisGeNET | Detail |
| Polymorphisms of IL1α rs1800587, IL1β rs16944 and IL1β rs1143634 were not significantly associated w... | DisGeNET | Detail |
| Polymorphisms of IL1α rs1800587, IL1β rs16944 and IL1β rs1143634 were not significantly associated w... | DisGeNET | Detail |
| The haplotype ACG of rs1143634, rs3917356, and rs16944 associated with higher glucose, higher homeos... | DisGeNET | Detail |
| We investigated whether IL-1B -511C>T (rs16944), IL-1B +3954C>T (rs1143634) and IL1-RN +2018T&... | DisGeNET | Detail |
| This study's purpose is to investigate the association of ankylosing spondylitis with single-nucleot... | DisGeNET | Detail |
| The associations between fatigue and SNPs in inflammation-related genes; IL1β (rs16944), IL6 (rs1800... | DisGeNET | Detail |
| Genetic polymorphisms of surfactant protein D rs2243639, Interleukin (IL)-1β rs16944 and IL-1RN rs22... | DisGeNET | Detail |
| To investigate the potential association between five cytokine promoter polymorphisms (interleukin [... | DisGeNET | Detail |
| We evaluated the role of tumor necrosis factor α (TNFA) rs1799724, interleukin 1β (IL1B) rs16944, IL... | DisGeNET | Detail |
| [Dominance of environmental factors over genetic ones and insufficient sample size might explain the... | DisGeNET | Detail |
| To understand the role of genes encoding pro-inflammatory cytokines in epilepsy, this study aimed to... | DisGeNET | Detail |
| To replicate and extend recent findings in a Turkish population of associations between chronic rhin... | DisGeNET | Detail |
| Single nucleotide polymorphisms in human pro- and anti-inflammatory genes, including IL1RN VNTR (rs3... | DisGeNET | Detail |
| To investigate the potential association between five cytokine promoter polymorphisms (interleukin [... | DisGeNET | Detail |
| Persistent HPV16/18 infection in Indian women with the A-allele (rs6457617) of HLA-DQB1 and T-allele... | DisGeNET | Detail |
| To replicate and extend recent findings in a Turkish population of associations between chronic rhin... | DisGeNET | Detail |
| To investigate the potential association between five cytokine promoter polymorphisms (interleukin [... | DisGeNET | Detail |
| To replicate and extend recent findings in a Turkish population of associations between chronic rhin... | DisGeNET | Detail |
| We evaluated the role of tumor necrosis factor α (TNFA) rs1799724, interleukin 1β (IL1B) rs16944, IL... | DisGeNET | Detail |
| One hundred and three self-reported Coloured participants, with a history of carpal tunnel release s... | DisGeNET | Detail |
| To understand the role of genes encoding pro-inflammatory cytokines in epilepsy, this study aimed to... | DisGeNET | Detail |
| [We found a positive association between NTM lymphadenitis and +3953TT in IL1B (OR 2.9; 95%-CI: 1.2-... | DisGeNET | Detail |
| Patients who were homozygous for the T allele of rs16944 in IL1B had an 8.1-fold greater risk of all... | DisGeNET | Detail |
| To understand the role of genes encoding pro-inflammatory cytokines in epilepsy, this study aimed to... | DisGeNET | Detail |
| These findings indicated that the functional IL1B rs16944 G>A polymorphism might contribute to ES... | DisGeNET | Detail |
| To replicate and extend recent findings in a Turkish population of associations between chronic rhin... | DisGeNET | Detail |
| The genotypes of interleukin 1A (IL1A) (-889C/T; rs1800587) and interleukin 1B (IL1B) (-511C/T; rs16... | DisGeNET | Detail |
| Association study of IL10, IL1beta, and IL1RN and schizophrenia using tag SNPs from a comprehensive ... | DisGeNET | Detail |
| To replicate and extend recent findings in a Turkish population of associations between chronic rhin... | DisGeNET | Detail |
| One hundred and three self-reported Coloured participants, with a history of carpal tunnel release s... | DisGeNET | Detail |
| To understand the role of genes encoding pro-inflammatory cytokines in epilepsy, this study aimed to... | DisGeNET | Detail |
| To investigate the potential association between five cytokine promoter polymorphisms (interleukin [... | DisGeNET | Detail |
| [When numeric scores were assigned to both the SNP and demographic data, and sequentially combined b... | DisGeNET | Detail |
| The aim of the present study was to investigate a trio of functional SNPs in the promoter regions of... | DisGeNET | Detail |
| To understand the role of genes encoding pro-inflammatory cytokines in epilepsy, this study aimed to... | DisGeNET | Detail |
| Association study of IL10, IL1beta, and IL1RN and schizophrenia using tag SNPs from a comprehensive ... | DisGeNET | Detail |
| Single nucleotide polymorphisms in human pro- and anti-inflammatory genes, including IL1RN VNTR (rs3... | DisGeNET | Detail |
| IL1B-511 (rs16944) genotype did not significantly predict changes in fatigue (p values >0.46). | DisGeNET | Detail |
| [Dominance of environmental factors over genetic ones and insufficient sample size might explain the... | DisGeNET | Detail |
| The primary aim of this study was to investigate the association between surfactant protein D (SFTPD... | DisGeNET | Detail |
| Persistent HPV16/18 infection in Indian women with the A-allele (rs6457617) of HLA-DQB1 and T-allele... | DisGeNET | Detail |
| One hundred and three self-reported Coloured participants, with a history of carpal tunnel release s... | DisGeNET | Detail |
| To replicate and extend recent findings in a Turkish population of associations between chronic rhin... | DisGeNET | Detail |
| With the aim to conclusively validate the strongest associations so far reported, we selected the po... | DisGeNET | Detail |
| With the aim to conclusively validate the strongest associations so far reported, we selected the po... | DisGeNET | Detail |
| With the aim to conclusively validate the strongest associations so far reported, we selected the po... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs16944 dbSNP
- Genome
- hg38
- Position
- chr2:112,837,290-112,837,290
- 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))
- rs16944
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.555
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9301
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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