chr7:22726627:G>C Detail (hg38) (IL6)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:22,766,246-22,766,246 View the variant detail on this assembly version. |
| hg38 | chr7:22,726,627-22,726,627 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000404625.5:c.-85+369G>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.778 | |
| 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 | Carcinoma of lung | We evaluated the role of tumor necrosis factor α (TNFA) rs1799724, interleukin 1... | BeFree | 24139238 | Detail |
| 0.078 | Malignant neoplasm of lung | We evaluated the role of tumor necrosis factor α (TNFA) rs1799724, interleukin 1... | BeFree | 24139238 | Detail |
| 0.036 | colorectal cancer | Data from a multi-center case-control study of colon (N = 1579 cases and N = 197... | BeFree | 17694420 | Detail |
| 0.012 | colorectal carcinoma | Data from a multi-center case-control study of colon (N = 1579 cases and N = 197... | BeFree | 17694420 | Detail |
| 0.040 | Malignant neoplasm of lung | Lack of association between a functional polymorphism (rs1800796) in the interle... | BeFree | 24984610 | Detail |
| <0.001 | Malignant neoplasm of lung | CRP rs2794520 (OR=1.64, 95% CI=1.19-2.26) and IL6 rs1800796 (OR=1.41, 95% CI=1.0... | BeFree | 24139238 | Detail |
| <0.001 | osteoporosis | After adjusting for age, the IL6 -634G > C (rs1800796) allele showed associat... | BeFree | 19506792 | Detail |
| 0.040 | Malignant neoplasm of lung | CRP rs2794520 (OR=1.64, 95% CI=1.19-2.26) and IL6 rs1800796 (OR=1.41, 95% CI=1.0... | BeFree | 24139238 | Detail |
| 0.007 | Ischemic Cerebrovascular Accident | Our study suggests that IL-6 rs1800796 and IL-1B rs1864169 polymorphisms are ass... | BeFree | 24782217 | Detail |
| 0.002 | Cancer of Head and Neck | This study observed a positive association between poor oral hygiene and HNC, wh... | BeFree | 23948049 | Detail |
| 0.004 | Ischemic Cerebrovascular Accident | Our study suggests that IL-6 rs1800796 and IL-1B rs1864169 polymorphisms are ass... | BeFree | 24782217 | Detail |
| 0.013 | tuberculosis | Interestingly, CD14(+) monocytes isolated from individuals with rs1800796GG geno... | BeFree | 22457277 | Detail |
| 0.009 | Ischemic stroke | Our study suggests that IL-6 rs1800796 and IL-1B rs1864169 polymorphisms are ass... | BeFree | 24782217 | Detail |
| 0.011 | Diabetes | We found that IL-1B rs1864169 and IL-6 rs1800796 polymorphisms may interact with... | BeFree | 24782217 | Detail |
| 0.289 | obesity | We found that IL-1B rs1864169 and IL-6 rs1800796 polymorphisms may interact with... | BeFree | 24782217 | Detail |
| <0.001 | Carcinoma of lung | CRP rs2794520 (OR=1.64, 95% CI=1.19-2.26) and IL6 rs1800796 (OR=1.41, 95% CI=1.0... | BeFree | 24139238 | Detail |
| 0.038 | diabetes mellitus | We found that IL-1B rs1864169 and IL-6 rs1800796 polymorphisms may interact with... | BeFree | 24782217 | Detail |
| 0.011 | Carcinoma of lung | CRP rs2794520 (OR=1.64, 95% CI=1.19-2.26) and IL6 rs1800796 (OR=1.41, 95% CI=1.0... | BeFree | 24139238 | Detail |
| <0.001 | Ischemic stroke | Nonparametric linkage analysis revealed that the rs1800796 polymorphism in the i... | BeFree | 25325233 | Detail |
| 0.010 | Ischemic stroke | Our study suggests that IL-6 rs1800796 and IL-1B rs1864169 polymorphisms are ass... | BeFree | 24782217 | Detail |
| 0.021 | Acute coronary syndrome | The interleukin 6 -572 G>C (rs1800796) polymorphism is associated with the ri... | BeFree | 20939703 | Detail |
| 0.006 | tuberculosis | Interestingly, CD14(+) monocytes isolated from individuals with rs1800796GG geno... | BeFree | 22457277 | Detail |
| <0.001 | Ischemic Cerebrovascular Accident | Nonparametric linkage analysis revealed that the rs1800796 polymorphism in the i... | BeFree | 25325233 | Detail |
| 0.011 | Carcinoma of lung | Lack of association between a functional polymorphism (rs1800796) in the interle... | BeFree | 24984610 | Detail |
| <0.001 | pancreatic ductal adenocarcinoma | Here we investigated the prognostic value and association of SELP-rs6136, IL6-rs... | BeFree | 25238546 | Detail |
| 0.137 | Cachexia | Here we investigated the prognostic value and association of SELP-rs6136, IL6-rs... | BeFree | 25238546 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We evaluated the role of tumor necrosis factor α (TNFA) rs1799724, interleukin 1β (IL1B) rs16944, IL... | DisGeNET | Detail |
| We evaluated the role of tumor necrosis factor α (TNFA) rs1799724, interleukin 1β (IL1B) rs16944, IL... | DisGeNET | Detail |
| Data from a multi-center case-control study of colon (N = 1579 cases and N = 1977 controls) and rect... | DisGeNET | Detail |
| Data from a multi-center case-control study of colon (N = 1579 cases and N = 1977 controls) and rect... | DisGeNET | Detail |
| Lack of association between a functional polymorphism (rs1800796) in the interleukin-6 gene promoter... | DisGeNET | Detail |
| CRP rs2794520 (OR=1.64, 95% CI=1.19-2.26) and IL6 rs1800796 (OR=1.41, 95% CI=1.02-1.96) were associa... | DisGeNET | Detail |
| After adjusting for age, the IL6 -634G > C (rs1800796) allele showed association with osteoporosi... | DisGeNET | Detail |
| CRP rs2794520 (OR=1.64, 95% CI=1.19-2.26) and IL6 rs1800796 (OR=1.41, 95% CI=1.02-1.96) were associa... | DisGeNET | Detail |
| Our study suggests that IL-6 rs1800796 and IL-1B rs1864169 polymorphisms are associated with ischemi... | DisGeNET | Detail |
| This study observed a positive association between poor oral hygiene and HNC, which appeared to diff... | DisGeNET | Detail |
| Our study suggests that IL-6 rs1800796 and IL-1B rs1864169 polymorphisms are associated with ischemi... | DisGeNET | Detail |
| Interestingly, CD14(+) monocytes isolated from individuals with rs1800796GG genotype produced signif... | DisGeNET | Detail |
| Our study suggests that IL-6 rs1800796 and IL-1B rs1864169 polymorphisms are associated with ischemi... | DisGeNET | Detail |
| We found that IL-1B rs1864169 and IL-6 rs1800796 polymorphisms may interact with diabetes, hypertens... | DisGeNET | Detail |
| We found that IL-1B rs1864169 and IL-6 rs1800796 polymorphisms may interact with diabetes, hypertens... | DisGeNET | Detail |
| CRP rs2794520 (OR=1.64, 95% CI=1.19-2.26) and IL6 rs1800796 (OR=1.41, 95% CI=1.02-1.96) were associa... | DisGeNET | Detail |
| We found that IL-1B rs1864169 and IL-6 rs1800796 polymorphisms may interact with diabetes, hypertens... | DisGeNET | Detail |
| CRP rs2794520 (OR=1.64, 95% CI=1.19-2.26) and IL6 rs1800796 (OR=1.41, 95% CI=1.02-1.96) were associa... | DisGeNET | Detail |
| Nonparametric linkage analysis revealed that the rs1800796 polymorphism in the interleukin-6 (IL-6) ... | DisGeNET | Detail |
| Our study suggests that IL-6 rs1800796 and IL-1B rs1864169 polymorphisms are associated with ischemi... | DisGeNET | Detail |
| The interleukin 6 -572 G>C (rs1800796) polymorphism is associated with the risk of developing acu... | DisGeNET | Detail |
| Interestingly, CD14(+) monocytes isolated from individuals with rs1800796GG genotype produced signif... | DisGeNET | Detail |
| Nonparametric linkage analysis revealed that the rs1800796 polymorphism in the interleukin-6 (IL-6) ... | DisGeNET | Detail |
| Lack of association between a functional polymorphism (rs1800796) in the interleukin-6 gene promoter... | DisGeNET | Detail |
| Here we investigated the prognostic value and association of SELP-rs6136, IL6-rs1800796 and AKT1-rs1... | DisGeNET | Detail |
| Here we investigated the prognostic value and association of SELP-rs6136, IL6-rs1800796 and AKT1-rs1... | 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
- rs1800796 dbSNP
- Genome
- hg38
- Position
- chr7:22,726,627-22,726,627
- 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))
- rs1800796
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7776
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 13031
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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