chr9:120478131:G>C Detail (hg19) (TLR4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:120,478,131-120,478,131 |
| hg38 | chr9:117,715,853-117,715,853 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_138554.4:c.*1205G>C | |
| Ensemble | ENST00000355622.8:c.*1205G>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.264 | |
| 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 |
|---|---|---|---|---|---|
| 0.009 | Malignant neoplasm of stomach | This study aimed to examine the associations of the miR-146a G/C (rs2910164) and... | BeFree | 20721625 | Detail |
| 0.002 | stomach carcinoma | TLR4 rs11536889 and CD14 -260 C/T are associated with non-cardia GC in Chinese. | BeFree | 23565226 | Detail |
| 0.002 | Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site | This study aimed to examine the associations of the miR-146a G/C (rs2910164) and... | BeFree | 20721625 | Detail |
| 0.031 | periodontitis | We have previously shown that a single nucleotide polymorphism rs11536889 in the... | BeFree | 22661708 | Detail |
| 0.244 | Sepsis | The regulatory toll-like receptor 4 genetic polymorphism rs11536889 is associate... | BeFree | 24950711 | Detail |
| 0.010 | Septicemia | The regulatory toll-like receptor 4 genetic polymorphism rs11536889 is associate... | BeFree | 24950711 | Detail |
| <0.001 | Dyspepsia | A case-control study comprising 284 ethnic Chinese individuals (70 non-cardia GC... | BeFree | 23565226 | Detail |
| 0.009 | Malignant neoplasm of stomach | In multivariate analyses, TLR4 rs11536889 remained a risk factor for GC (OR: 3.5... | BeFree | 24929142 | Detail |
| 0.007 | stomach carcinoma | In multivariate analyses, TLR4 rs11536889 remained a risk factor for GC (OR: 3.5... | BeFree | 24929142 | Detail |
| 0.002 | Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site | This study aimed to examine the associations of the miR-146a G/C (rs2910164) and... | BeFree | 20721625 | Detail |
| 0.005 | Malignant neoplasm of stomach | This study aimed to examine the associations of the miR-146a G/C (rs2910164) and... | BeFree | 20721625 | Detail |
| 0.005 | stomach carcinoma | This study aimed to examine the associations of the miR-146a G/C (rs2910164) and... | BeFree | 20721625 | Detail |
| 0.007 | stomach carcinoma | This study aimed to examine the associations of the miR-146a G/C (rs2910164) and... | BeFree | 20721625 | 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 |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| This study aimed to examine the associations of the miR-146a G/C (rs2910164) and TLR4 +3725 G/C (rs1... | DisGeNET | Detail |
| TLR4 rs11536889 and CD14 -260 C/T are associated with non-cardia GC in Chinese. | DisGeNET | Detail |
| This study aimed to examine the associations of the miR-146a G/C (rs2910164) and TLR4 +3725 G/C (rs1... | DisGeNET | Detail |
| We have previously shown that a single nucleotide polymorphism rs11536889 in the 3'-untranslated reg... | DisGeNET | Detail |
| The regulatory toll-like receptor 4 genetic polymorphism rs11536889 is associated with renal, coagul... | DisGeNET | Detail |
| The regulatory toll-like receptor 4 genetic polymorphism rs11536889 is associated with renal, coagul... | DisGeNET | Detail |
| A case-control study comprising 284 ethnic Chinese individuals (70 non-cardia GC cases and 214 funct... | DisGeNET | Detail |
| In multivariate analyses, TLR4 rs11536889 remained a risk factor for GC (OR: 3.58, 95% CI: 1.20-10.6... | DisGeNET | Detail |
| In multivariate analyses, TLR4 rs11536889 remained a risk factor for GC (OR: 3.58, 95% CI: 1.20-10.6... | DisGeNET | Detail |
| This study aimed to examine the associations of the miR-146a G/C (rs2910164) and TLR4 +3725 G/C (rs1... | DisGeNET | Detail |
| This study aimed to examine the associations of the miR-146a G/C (rs2910164) and TLR4 +3725 G/C (rs1... | DisGeNET | Detail |
| This study aimed to examine the associations of the miR-146a G/C (rs2910164) and TLR4 +3725 G/C (rs1... | DisGeNET | Detail |
| This study aimed to examine the associations of the miR-146a G/C (rs2910164) and TLR4 +3725 G/C (rs1... | DisGeNET | Detail |
| TLR4 rs11536889 and CD14 -260 C/T are associated with non-cardia GC in Chinese. | 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
- rs11536889 dbSNP
- Genome
- hg19
- Position
- chr9:120,478,131-120,478,131
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- 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))
- rs11536889
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2635
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4417
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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