chr5:140012916:A>G Detail (hg19) (CD14)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:140,012,916-140,012,916 |
| hg38 | chr5:140,633,331-140,633,331 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000498971.7:c.-121-139T>C | |
| ENST00000512545.2:c.-221-39T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.471 | |
| 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 | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.002 | stomach carcinoma | TLR4 rs11536889 and CD14 -260 C/T are associated with non-cardia GC in Chinese. | BeFree | 23565226 | Detail |
| 0.002 | Malignant neoplasm of stomach | TLR4 rs11536889 and CD14 -260 C/T are associated with non-cardia GC in Chinese. | BeFree | 23565226 | Detail |
| 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 |
| 0.005 | Coronary Arteriosclerosis | Functional variants of CD14 -260C/T, TNF-alpha -308G/A, and IL-6 -174G/C, implic... | BeFree | 11199329 | Detail |
| 0.016 | Coronary Arteriosclerosis | Functional variants of CD14 -260C/T, TNF-alpha -308G/A, and IL-6 -174G/C, implic... | BeFree | 11199329 | Detail |
| 0.014 | Coronary Arteriosclerosis | Functional variants of CD14 -260C/T, TNF-alpha -308G/A, and IL-6 -174G/C, implic... | BeFree | 11199329 | Detail |
| 0.006 | acute pancreatitis | Soluble CD14 receptor expression and monocyte heterogeneity but not the C-260T C... | BeFree | 15599151 | Detail |
| <0.001 | Very Low Birth Weight | The IL-6 -174 G/C, IL-10 -1082 G/A and CD14 -260 C/T SNPs may alter risk for BSI... | BeFree | 16611358 | Detail |
| 0.215 | asthma | [The effect of CD14 C159T polymorphism on in vitro IgE synthesis and cytokine pr... | GAD | 20608916 | Detail |
| 0.005 | Coronary heart disease | The association between CD14 gene C-260T polymorphism and coronary heart disease... | BeFree | 23277403 | Detail |
| 0.003 | carotid stenosis | To better clarify the role of CD14 in atherosclerosis, we typed CD14 C-260T poly... | BeFree | 17098305 | Detail |
| <0.001 | Allergic sensitization | A borderline significant multiplicative interaction was found between E coli and... | BeFree | 20109750 | Detail |
| 0.005 | Coronary heart disease | TLR4/Asp299Gly, CD14/C-260T, plasma levels of the soluble receptor CD14 and the ... | BeFree | 15367917 | Detail |
| 0.005 | Coronary heart disease | A common C-260T polymorphism in the promoter of the CD14 gene, the trans-membran... | BeFree | 15777548 | Detail |
| 0.190 | myocardial infarction | Interaction between the C-260T polymorphism of the CD14 gene and the plasma IL-6... | BeFree | 15777548 | Detail |
| 0.005 | Coronary heart disease | A functional polymorphism in the promoter of the CD14 gene (CD14 C-260T) was ass... | BeFree | 17098305 | Detail |
| 0.001 | Severe Sepsis | Genotypes GG of rs2569190 (the CD14 gene) and AT of rs4073 (the IL8 gene) were a... | BeFree | 25000179 | Detail |
| 0.004 | arteriosclerosis | These data provide insight into the pathogenetic role of the CD14 C-260T polymor... | BeFree | 17098305 | Detail |
| 0.001 | Very Low Birth Weight | Infectious complications were retrospectively determined in 293 (233 African-Ame... | BeFree | 16611358 | Detail |
| 0.015 | Coronary Arteriosclerosis | A functional polymorphism in the promoter of the CD14 gene (CD14 C-260T) was ass... | BeFree | 17098305 | Detail |
| <0.001 | carotid stenosis | To better clarify the role of CD14 in atherosclerosis, we typed CD14 C-260T poly... | BeFree | 17098305 | Detail |
| 0.008 | Coronary heart disease | The TLR4/Asp299Gly and CD14/C-260T polymorphisms and plasma sCD14 concentrations... | BeFree | 15367917 | Detail |
| 0.015 | Coronary Arteriosclerosis | TLR4/Asp299Gly, CD14/C-260T, plasma levels of the soluble receptor CD14 and the ... | BeFree | 15367917 | Detail |
| 0.012 | Inflammatory Bowel Diseases | Association between CD14 gene C-260T polymorphism and inflammatory bowel disease... | BeFree | 23049772 | Detail |
| 0.001 | Hepatitis C, Chronic | To analyze the correlation between CD14 rs2569190/C-159T single nucleotide polym... | BeFree | 19701968 | Detail |
| 0.021 | atherosclerosis | These data provide insight into the pathogenetic role of the CD14 C-260T polymor... | BeFree | 17098305 | Detail |
| 0.015 | Coronary Arteriosclerosis | A common C-260T polymorphism in the promoter of the CD14 gene, the trans-membran... | BeFree | 15777548 | Detail |
| 0.015 | Coronary Arteriosclerosis | The association between CD14 gene C-260T polymorphism and coronary heart disease... | BeFree | 23277403 | Detail |
| 0.031 | ulcerative colitis | Expanding previous results of individual studies, our findings demonstrated that... | BeFree | 23049772 | Detail |
| 0.005 | Malignant neoplasm of stomach | This meta-analysis suggests that the CD14 -260C/T polymorphism may increase the ... | BeFree | 24978812 | Detail |
| 0.003 | Myocardial Ischemia | CD14 C-260T gene polymorphism and ischemic heart disease susceptibility: a HuGE ... | BeFree | 19346955 | Detail |
| 0.018 | myocardial infarction | Interaction between the C-260T polymorphism of the CD14 gene and the plasma IL-6... | BeFree | 15777548 | Detail |
| 0.001 | Childhood asthma | Four SNPs, rs2569191 (-1145GA), rs5744455 (-550CT or -651CT), rs2569190 (-159CT ... | BeFree | 20398919 | Detail |
| 0.003 | stomach carcinoma | This meta-analysis suggests that the CD14 -260C/T polymorphism may increase the ... | BeFree | 24978812 | Detail |
| <0.001 | carotid stenosis | To better clarify the role of CD14 in atherosclerosis, we typed CD14 C-260T poly... | BeFree | 17098305 | Detail |
| 0.002 | Very Low Birth Weight | Infectious complications were retrospectively determined in 293 (233 African-Ame... | BeFree | 16611358 | Detail |
| <0.001 | Severe Sepsis | Genotypes GG of rs2569190 (the CD14 gene) and AT of rs4073 (the IL8 gene) were a... | BeFree | 25000179 | Detail |
| 0.009 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.033 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.008 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.005 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.010 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.003 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.098 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.012 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.183 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.422 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.003 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.131 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| <0.001 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.008 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.004 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| <0.001 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.034 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.144 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| <0.001 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.008 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.130 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.187 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.012 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.004 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.131 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| <0.001 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.009 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| TLR4 rs11536889 and CD14 -260 C/T are associated with non-cardia GC in Chinese. | DisGeNET | Detail |
| TLR4 rs11536889 and CD14 -260 C/T are associated with non-cardia GC in Chinese. | 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 |
| To investigate associations between total serum immunoglobulin E (IgE) levels and single nucleotide ... | DisGeNET | Detail |
| Functional variants of CD14 -260C/T, TNF-alpha -308G/A, and IL-6 -174G/C, implicated in the suscepti... | DisGeNET | Detail |
| Functional variants of CD14 -260C/T, TNF-alpha -308G/A, and IL-6 -174G/C, implicated in the suscepti... | DisGeNET | Detail |
| Functional variants of CD14 -260C/T, TNF-alpha -308G/A, and IL-6 -174G/C, implicated in the suscepti... | DisGeNET | Detail |
| Soluble CD14 receptor expression and monocyte heterogeneity but not the C-260T CD14 genotype are ass... | DisGeNET | Detail |
| The IL-6 -174 G/C, IL-10 -1082 G/A and CD14 -260 C/T SNPs may alter risk for BSI in ventilated VLBW ... | DisGeNET | Detail |
| [The effect of CD14 C159T polymorphism on in vitro IgE synthesis and cytokine production by PBMC fro... | DisGeNET | Detail |
| The association between CD14 gene C-260T polymorphism and coronary heart disease risk: a meta-analys... | DisGeNET | Detail |
| To better clarify the role of CD14 in atherosclerosis, we typed CD14 C-260T polymorphism in old Ital... | DisGeNET | Detail |
| A borderline significant multiplicative interaction was found between E coli and the rs2569190 (CD14... | DisGeNET | Detail |
| TLR4/Asp299Gly, CD14/C-260T, plasma levels of the soluble receptor CD14 and the risk of coronary hea... | DisGeNET | Detail |
| A common C-260T polymorphism in the promoter of the CD14 gene, the trans-membrane receptor of lipopo... | DisGeNET | Detail |
| Interaction between the C-260T polymorphism of the CD14 gene and the plasma IL-6 concentration on th... | DisGeNET | Detail |
| A functional polymorphism in the promoter of the CD14 gene (CD14 C-260T) was associated with coronar... | DisGeNET | Detail |
| Genotypes GG of rs2569190 (the CD14 gene) and AT of rs4073 (the IL8 gene) were associated with a sig... | DisGeNET | Detail |
| These data provide insight into the pathogenetic role of the CD14 C-260T polymorphism in atheroscler... | DisGeNET | Detail |
| Infectious complications were retrospectively determined in 293 (233 African-American (AA), 57 Cauca... | DisGeNET | Detail |
| A functional polymorphism in the promoter of the CD14 gene (CD14 C-260T) was associated with coronar... | DisGeNET | Detail |
| To better clarify the role of CD14 in atherosclerosis, we typed CD14 C-260T polymorphism in old Ital... | DisGeNET | Detail |
| The TLR4/Asp299Gly and CD14/C-260T polymorphisms and plasma sCD14 concentrations do not appear as si... | DisGeNET | Detail |
| TLR4/Asp299Gly, CD14/C-260T, plasma levels of the soluble receptor CD14 and the risk of coronary hea... | DisGeNET | Detail |
| Association between CD14 gene C-260T polymorphism and inflammatory bowel disease: a meta-analysis. | DisGeNET | Detail |
| To analyze the correlation between CD14 rs2569190/C-159T single nucleotide polymorphism (SNP) and di... | DisGeNET | Detail |
| These data provide insight into the pathogenetic role of the CD14 C-260T polymorphism in atheroscler... | DisGeNET | Detail |
| A common C-260T polymorphism in the promoter of the CD14 gene, the trans-membrane receptor of lipopo... | DisGeNET | Detail |
| The association between CD14 gene C-260T polymorphism and coronary heart disease risk: a meta-analys... | DisGeNET | Detail |
| Expanding previous results of individual studies, our findings demonstrated that CD14 gene C-260T po... | DisGeNET | Detail |
| This meta-analysis suggests that the CD14 -260C/T polymorphism may increase the risk of gastric canc... | DisGeNET | Detail |
| CD14 C-260T gene polymorphism and ischemic heart disease susceptibility: a HuGE review and meta-anal... | DisGeNET | Detail |
| Interaction between the C-260T polymorphism of the CD14 gene and the plasma IL-6 concentration on th... | DisGeNET | Detail |
| Four SNPs, rs2569191 (-1145GA), rs5744455 (-550CT or -651CT), rs2569190 (-159CT or -260CT), and rs49... | DisGeNET | Detail |
| This meta-analysis suggests that the CD14 -260C/T polymorphism may increase the risk of gastric canc... | DisGeNET | Detail |
| To better clarify the role of CD14 in atherosclerosis, we typed CD14 C-260T polymorphism in old Ital... | DisGeNET | Detail |
| Infectious complications were retrospectively determined in 293 (233 African-American (AA), 57 Cauca... | DisGeNET | Detail |
| Genotypes GG of rs2569190 (the CD14 gene) and AT of rs4073 (the IL8 gene) were associated with a sig... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2569190 dbSNP
- Genome
- hg19
- Position
- chr5:140,012,916-140,012,916
- 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))
- rs2569190
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4712
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7898
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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