chr7:22727026:C>G Detail (hg38) (IL6, IL6-AS1, LOC126859963)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:22,766,645-22,766,645 View the variant detail on this assembly version. |
| hg38 | chr7:22,727,026-22,727,026 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000404625.5:c.-84-153C>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:1.000 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance | other; risk factor |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
risk factor
|
2007-09-01 | no assertion criteria provided |
germline
|
Detail | |
|
risk factor
|
2007-09-01 | no assertion criteria provided | Kaposi sarcoma |
germline
|
Detail |
|
risk factor
|
2007-09-01 | no assertion criteria provided | Crohn disease-associated growth failure, susceptibility to |
germline
|
Detail |
|
risk factor
|
2007-09-01 | no assertion criteria provided |
germline
|
Detail | |
|
risk factor
|
2007-09-01 | no assertion criteria provided | Diabetes mellitus type 2, susceptibility to |
germline
|
Detail |
|
risk factor
|
2007-09-01 | no assertion criteria provided |
germline
|
Detail | |
other
|
2022-12-10 | no assertion criteria provided | cholangiocarcinoma |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.001 | vascular disease occlusive | All subjects were genotyped for 13 polymorphic variants in the genes of xenobiot... | BeFree | 23107763 | Detail |
| 0.337 | hyperhomocysteinemia | All subjects were genotyped for 13 polymorphic variants in the genes of xenobiot... | BeFree | 23107763 | Detail |
| <0.001 | hyperhomocysteinemia | All subjects were genotyped for 13 polymorphic variants in the genes of xenobiot... | BeFree | 23107763 | Detail |
| 0.146 | Homocysteinemia | All subjects were genotyped for 13 polymorphic variants in the genes of xenobiot... | BeFree | 23107763 | Detail |
| <0.001 | Homocysteinemia | All subjects were genotyped for 13 polymorphic variants in the genes of xenobiot... | BeFree | 23107763 | Detail |
| <0.001 | Fatigue | The associations between fatigue and SNPs in inflammation-related genes; IL1β (r... | BeFree | 21496483 | Detail |
| 0.001 | epilepsy | To understand the role of genes encoding pro-inflammatory cytokines in epilepsy,... | BeFree | 22578659 | Detail |
| 0.026 | multiple sclerosis | Single nucleotide polymorphisms in human pro- and anti-inflammatory genes, inclu... | BeFree | 21621860 | 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 |
| 0.082 | Seizures | To understand the role of genes encoding pro-inflammatory cytokines in epilepsy,... | BeFree | 22578659 | 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 |
| 0.001 | 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 |
| 0.013 | multiple sclerosis | Single nucleotide polymorphisms in human pro- and anti-inflammatory genes, inclu... | BeFree | 21621860 | Detail |
| <0.001 | carpal tunnel syndrome | One hundred and three self-reported Coloured participants, with a history of car... | BeFree | 25813875 | Detail |
| <0.001 | Hyperlipidemia, Familial Combined | Variants more frequently identified in isolated hypertriglyceridemias were rs741... | BeFree | 25176936 | Detail |
| <0.001 | Hyperlipidemia, Familial Combined | Variants more frequently identified in isolated hypertriglyceridemias were rs741... | BeFree | 25176936 | Detail |
| 0.015 | Hyperlipidemia, Familial Combined | Variants more frequently identified in isolated hypertriglyceridemias were rs741... | BeFree | 25176936 | Detail |
| <0.001 | Hyperlipidemia, Familial Combined | Variants more frequently identified in isolated hypertriglyceridemias were rs741... | BeFree | 25176936 | Detail |
| 0.010 | schizophrenia | This study aimed at investigating the association between schizophrenia suscepti... | BeFree | 24065520 | Detail |
| 0.127 | schizophrenia | This study aimed at investigating the association between schizophrenia suscepti... | BeFree | 24065520 | Detail |
| 0.001 | schizophrenia | This study aimed at investigating the association between schizophrenia suscepti... | BeFree | 24065520 | Detail |
| 0.038 | diabetes mellitus | We assessed whether rs1800629 and rs1800795 modified the effect of moderate-to-v... | BeFree | 20361391 | Detail |
| 0.003 | gestational diabetes | Our study aimed to assess in vitro production of IL-10, IL-6, TNF-A, and adipone... | BeFree | 22070425 | Detail |
| 0.011 | Diabetes | We assessed whether rs1800629 and rs1800795 modified the effect of moderate-to-v... | BeFree | 20361391 | Detail |
| 0.026 | gestational diabetes | Our study aimed to assess in vitro production of IL-10, IL-6, TNF-A, and adipone... | BeFree | 22070425 | Detail |
| <0.001 | gestational diabetes | Our study aimed to assess in vitro production of IL-10, IL-6, TNF-A, and adipone... | BeFree | 22070425 | Detail |
| <0.001 | Classical Hodgkin's Lymphoma | We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs... | BeFree | 24008079 | Detail |
| <0.001 | Classical Hodgkin's Lymphoma | We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs... | BeFree | 24008079 | Detail |
| <0.001 | Classical Hodgkin's Lymphoma | We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs... | BeFree | 24008079 | Detail |
| <0.001 | Lesion of brain | A single nucleotide polymorphism (SNP), rs1800795, in the promoter region of the... | BeFree | 24314052 | Detail |
| 0.213 | rheumatoid arthritis | No associations were found for rs1800795 (IL-6), rs1800896 (IL-10) and rs7528684... | BeFree | 25566937 | Detail |
| 0.421 | Diabetes Mellitus, Non-Insulin-Dependent | This study examined a possible association of the G>C polymorphism at nucleot... | BeFree | 19140096 | Detail |
| 0.421 | Diabetes Mellitus, Non-Insulin-Dependent | Interleukin-6 (IL-6)-597 A/G (rs1800797) & -174 G/C (rs1800795) gene polymorphis... | BeFree | 25222779 | Detail |
| 0.016 | Lymphoma, Non-Hodgkin | Given the importance of understanding the genetic variations involved in the pat... | BeFree | 25564959 | Detail |
| <0.001 | Organ dysfunction syndrome | We evaluated the role of single nucleotide polymorphisms for five genes: bacteri... | BeFree | 24383711 | Detail |
| <0.001 | Organ dysfunction syndrome | We evaluated the role of single nucleotide polymorphisms for five genes: bacteri... | BeFree | 24383711 | Detail |
| 0.004 | breast carcinoma | Among women without recent hormone exposure, those with a WHR >0.9 and the rs... | BeFree | 18239642 | Detail |
| 0.008 | neuroblastoma | [Prognostic significance of interleukin-6 single nucleotide polymorphism genotyp... | GAD | 19671870 | Detail |
| 0.035 | rheumatoid arthritis | No associations were found for rs1800795 (IL-6), rs1800896 (IL-10) and rs7528684... | BeFree | 25566937 | Detail |
| 0.190 | Alzheimer's disease | In this case-control study, we examined C677T and A1298C (rs1801133 and rs180113... | BeFree | 22015309 | Detail |
| 0.005 | Glioma | The IL4 (rs2243248, -1098T>G) and IL6 (rs1800795, -174G>C) polymorphisms w... | BeFree | 17916900 | Detail |
| 0.013 | Malignant neoplasm of stomach | The interleukin 6 -174 G/C (rs1800795) gene polymorphisms was analyzed in gastri... | BeFree | 23893709 | Detail |
| 0.421 | Diabetes Mellitus, Non-Insulin-Dependent | Recent studies identified a significant interaction between body mass index (BMI... | BeFree | 22075267 | Detail |
| <0.001 | Organ dysfunction syndrome | We evaluated the role of single nucleotide polymorphisms for five genes: bacteri... | BeFree | 24383711 | Detail |
| 0.036 | colorectal cancer | Data from a multi-center case-control study of colon (N = 1579 cases and N = 197... | BeFree | 17694420 | Detail |
| 0.203 | rheumatoid arthritis | No associations were found for rs1800795 (IL-6), rs1800896 (IL-10) and rs7528684... | BeFree | 25566937 | Detail |
| 0.066 | Malignant neoplasm of breast | [Host genetic variants in the interleukin-6 promoter predict poor outcome in pat... | GAD | 19435922 | Detail |
| 0.130 | Kaposi sarcoma | [In addition to the HHV-8 infection, the interleukin-6 promoter polymorphism G-1... | GAD | 15154666 | Detail |
| <0.001 | Organ dysfunction syndrome | We evaluated the role of single nucleotide polymorphisms for five genes: bacteri... | BeFree | 24383711 | Detail |
| 0.012 | colorectal carcinoma | Data from a multi-center case-control study of colon (N = 1579 cases and N = 197... | BeFree | 17694420 | Detail |
| 0.003 | Central neuroblastoma | Because the rs1800795 SNP [-174 IL-6 (G > C)] has been shown to correlate wit... | BeFree | 19671870 | Detail |
| 0.002 | Acute GVH disease | Similar to previous publications, the IL6 donor genotype for rs1800795 was assoc... | BeFree | 22282500 | Detail |
| 0.003 | Malignant neoplasm of breast | Among women without recent hormone exposure, those with a WHR >0.9 and the rs... | BeFree | 18239642 | Detail |
| 0.015 | Glioma | The IL4 (rs2243248, -1098T>G) and IL6 (rs1800795, -174G>C) polymorphisms w... | BeFree | 17916900 | Detail |
| <0.001 | Organ dysfunction syndrome | We evaluated the role of single nucleotide polymorphisms for five genes: bacteri... | BeFree | 24383711 | Detail |
| <0.001 | systemic scleroderma | In the IL6 allelic combination analyses, the GGC allelic combination rs2069827-r... | BeFree | 23027890 | Detail |
| 0.240 | Hypertensive disease | In some, but not all, studies, IL6 -174G/C (rs1800795) and TGFB1 869T/C (rs19820... | BeFree | 19106168 | Detail |
| 0.008 | neuroblastoma | Because the rs1800795 SNP [-174 IL-6 (G > C)] has been shown to correlate wit... | BeFree | 19671870 | Detail |
| 0.311 | psoriasis | This study aims to assess whether the association between the non-susceptibility... | BeFree | 24140476 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_000007.14:g.22727026C>G AND not provided | ClinVar | Detail |
| NC_000007.14:g.22727026C>G AND Kaposi sarcoma | ClinVar | Detail |
| NC_000007.14:g.22727026C>G AND Crohn disease-associated growth failure, susceptibility to | ClinVar | Detail |
| NC_000007.14:g.22727026C>G AND not provided | ClinVar | Detail |
| NC_000007.14:g.22727026C>G AND Diabetes mellitus type 2, susceptibility to | ClinVar | Detail |
| NC_000007.14:g.22727026C>G AND Diabetes mellitus, type 1, susceptibility to | ClinVar | Detail |
| NC_000007.14:g.22727026C>G AND Cholangiocarcinoma | ClinVar | Detail |
| All subjects were genotyped for 13 polymorphic variants in the genes of xenobiotics detoxification C... | DisGeNET | Detail |
| All subjects were genotyped for 13 polymorphic variants in the genes of xenobiotics detoxification C... | DisGeNET | Detail |
| All subjects were genotyped for 13 polymorphic variants in the genes of xenobiotics detoxification C... | DisGeNET | Detail |
| All subjects were genotyped for 13 polymorphic variants in the genes of xenobiotics detoxification C... | DisGeNET | Detail |
| All subjects were genotyped for 13 polymorphic variants in the genes of xenobiotics detoxification C... | DisGeNET | Detail |
| The associations between fatigue and SNPs in inflammation-related genes; IL1β (rs16944), IL6 (rs1800... | DisGeNET | Detail |
| To understand the role of genes encoding pro-inflammatory cytokines in epilepsy, this study aimed to... | DisGeNET | Detail |
| Single nucleotide polymorphisms in human pro- and anti-inflammatory genes, including IL1RN VNTR (rs3... | 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 understand the role of genes encoding pro-inflammatory cytokines in epilepsy, this study aimed to... | 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 |
| 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 |
| Single nucleotide polymorphisms in human pro- and anti-inflammatory genes, including IL1RN VNTR (rs3... | DisGeNET | Detail |
| One hundred and three self-reported Coloured participants, with a history of carpal tunnel release s... | DisGeNET | Detail |
| Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800... | DisGeNET | Detail |
| Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800... | DisGeNET | Detail |
| Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800... | DisGeNET | Detail |
| Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800... | DisGeNET | Detail |
| This study aimed at investigating the association between schizophrenia susceptibility and selected ... | DisGeNET | Detail |
| This study aimed at investigating the association between schizophrenia susceptibility and selected ... | DisGeNET | Detail |
| This study aimed at investigating the association between schizophrenia susceptibility and selected ... | DisGeNET | Detail |
| We assessed whether rs1800629 and rs1800795 modified the effect of moderate-to-vigorous physical act... | DisGeNET | Detail |
| Our study aimed to assess in vitro production of IL-10, IL-6, TNF-A, and adiponectin serum levels in... | DisGeNET | Detail |
| We assessed whether rs1800629 and rs1800795 modified the effect of moderate-to-vigorous physical act... | DisGeNET | Detail |
| Our study aimed to assess in vitro production of IL-10, IL-6, TNF-A, and adiponectin serum levels in... | DisGeNET | Detail |
| Our study aimed to assess in vitro production of IL-10, IL-6, TNF-A, and adiponectin serum levels in... | DisGeNET | Detail |
| We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs1800871, rs1800872),... | DisGeNET | Detail |
| We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs1800871, rs1800872),... | DisGeNET | Detail |
| We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs1800871, rs1800872),... | DisGeNET | Detail |
| A single nucleotide polymorphism (SNP), rs1800795, in the promoter region of the interleukin-6 (IL6)... | DisGeNET | Detail |
| No associations were found for rs1800795 (IL-6), rs1800896 (IL-10) and rs7528684 (FCRL3) in the tota... | DisGeNET | Detail |
| This study examined a possible association of the G>C polymorphism at nucleotide -174 in the prom... | DisGeNET | Detail |
| Interleukin-6 (IL-6)-597 A/G (rs1800797) & -174 G/C (rs1800795) gene polymorphisms in type 2 diabete... | DisGeNET | Detail |
| Given the importance of understanding the genetic variations involved in the pathogenesis of non-Hod... | DisGeNET | Detail |
| We evaluated the role of single nucleotide polymorphisms for five genes: bactericidal permeability i... | DisGeNET | Detail |
| We evaluated the role of single nucleotide polymorphisms for five genes: bactericidal permeability i... | DisGeNET | Detail |
| Among women without recent hormone exposure, those with a WHR >0.9 and the rs1800795 GG genotype ... | DisGeNET | Detail |
| [Prognostic significance of interleukin-6 single nucleotide polymorphism genotypes in neuroblastoma:... | DisGeNET | Detail |
| No associations were found for rs1800795 (IL-6), rs1800896 (IL-10) and rs7528684 (FCRL3) in the tota... | DisGeNET | Detail |
| In this case-control study, we examined C677T and A1298C (rs1801133 and rs1801131) polymorphism in t... | DisGeNET | Detail |
| The IL4 (rs2243248, -1098T>G) and IL6 (rs1800795, -174G>C) polymorphisms were significantly as... | DisGeNET | Detail |
| The interleukin 6 -174 G/C (rs1800795) gene polymorphisms was analyzed in gastric cancer, peptic ulc... | DisGeNET | Detail |
| Recent studies identified a significant interaction between body mass index (BMI) and the rs1800795 ... | DisGeNET | Detail |
| We evaluated the role of single nucleotide polymorphisms for five genes: bactericidal permeability i... | DisGeNET | Detail |
| Data from a multi-center case-control study of colon (N = 1579 cases and N = 1977 controls) and rect... | DisGeNET | Detail |
| No associations were found for rs1800795 (IL-6), rs1800896 (IL-10) and rs7528684 (FCRL3) in the tota... | DisGeNET | Detail |
| [Host genetic variants in the interleukin-6 promoter predict poor outcome in patients with estrogen ... | DisGeNET | Detail |
| [In addition to the HHV-8 infection, the interleukin-6 promoter polymorphism G-174C is associated wi... | DisGeNET | Detail |
| We evaluated the role of single nucleotide polymorphisms for five genes: bactericidal permeability i... | DisGeNET | Detail |
| Data from a multi-center case-control study of colon (N = 1579 cases and N = 1977 controls) and rect... | DisGeNET | Detail |
| Because the rs1800795 SNP [-174 IL-6 (G > C)] has been shown to correlate with production of IL-6... | DisGeNET | Detail |
| Similar to previous publications, the IL6 donor genotype for rs1800795 was associated with a 20%-50%... | DisGeNET | Detail |
| Among women without recent hormone exposure, those with a WHR >0.9 and the rs1800795 GG genotype ... | DisGeNET | Detail |
| The IL4 (rs2243248, -1098T>G) and IL6 (rs1800795, -174G>C) polymorphisms were significantly as... | DisGeNET | Detail |
| We evaluated the role of single nucleotide polymorphisms for five genes: bactericidal permeability i... | DisGeNET | Detail |
| In the IL6 allelic combination analyses, the GGC allelic combination rs2069827-rs1800795-rs2069840 s... | DisGeNET | Detail |
| In some, but not all, studies, IL6 -174G/C (rs1800795) and TGFB1 869T/C (rs1982073) gene polymorphis... | DisGeNET | Detail |
| Because the rs1800795 SNP [-174 IL-6 (G > C)] has been shown to correlate with production of IL-6... | DisGeNET | Detail |
| This study aims to assess whether the association between the non-susceptibility allelic variants of... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1800795 dbSNP
- Genome
- hg38
- Position
- chr7:22,727,026-22,727,026
- Variant Type
- snv
- Reference Allele
- C
- 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))
- rs1800795
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.9999
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16757
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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