chr1:154405193:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:154,377,669-154,441,926 |
| hg38 | chr1:154,405,193-154,469,450 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | renal cell carcinoma | NA | CTD_human | Detail | |
| 0.003 | squamous cell carcinoma | NA | BeFree,GAD | Detail | |
| <0.001 | celiac disease | NA | BeFree | Detail | |
| 0.002 | chorioamnionitis | NA | GAD | Detail | |
| 0.003 | Colorectal Neoplasms | NA | LHGDN | Detail | |
| 0.002 | Connective Tissue Diseases | NA | GAD | Detail | |
| 0.002 | Coronary Arteriosclerosis | An association study between genetic polymorphism in the interleukin-6 receptor ... | BeFree | 24971337 | Detail |
| 0.002 | Coronary Arteriosclerosis | Analysis of the role of interleukin 6 receptor haplotypes in the regulation of c... | BeFree | 25781951 | Detail |
| 0.127 | Coronary heart disease | An association study between genetic polymorphism in the interleukin-6 receptor ... | BeFree,GAD,GWASCAT | 24971337 | Detail |
| 0.127 | Coronary heart disease | Analysis of the role of interleukin 6 receptor haplotypes in the regulation of c... | BeFree,GAD,GWASCAT | 25781951 | Detail |
| <0.001 | Delirium | NA | BeFree | Detail | |
| 0.080 | depressive disorder | NA | RGD | Detail | |
| <0.001 | Diabetes | NA | BeFree | Detail | |
| 0.003 | diabetes mellitus | NA | BeFree,GAD | Detail | |
| 0.011 | Diabetes Mellitus, Non-Insulin-Dependent | NA | BeFree,GAD | Detail | |
| 0.003 | Diabetic Nephropathy | NA | LHGDN | Detail | |
| 0.005 | Esophageal Neoplasms | NA | GAD | Detail | |
| <0.001 | Fatigue | NA | BeFree | Detail | |
| 0.002 | Fetal Diseases | NA | GAD | Detail | |
| 0.002 | Fetal Membranes, Premature Rupture | NA | GAD | Detail | |
| 0.003 | Angiolymphoid hyperplasia | NA | BeFree,LHGDN | Detail | |
| <0.001 | Glioma | NA | BeFree | Detail | |
| 0.080 | Heart failure | NA | RGD | Detail | |
| 0.080 | Heat Stroke | NA | CTD_mouse | Detail | |
| <0.001 | hepatitis B | NA | BeFree | Detail | |
| 0.001 | HIV Infections | NA | BeFree | Detail | |
| 0.080 | Hyperalgesia | NA | RGD | Detail | |
| 0.002 | hyperglycemia | NA | GAD | Detail | |
| 0.003 | hyperparathyroidism | NA | LHGDN | Detail | |
| 0.005 | Inflammation | NA | GAD | Detail | |
| <0.001 | Inflammatory Bowel Diseases | NA | BeFree | Detail | |
| <0.001 | ischemia | NA | BeFree | Detail | |
| 0.002 | Premature Obstetric Labor | NA | GAD | Detail | |
| <0.001 | leukemia | NA | BeFree | Detail | |
| <0.001 | chronic lymphocytic leukemia | NA | BeFree | Detail | |
| <0.001 | Acute Megakaryocytic Leukemias | NA | BeFree | Detail | |
| <0.001 | Adult T-Cell Lymphoma/Leukemia | NA | BeFree | Detail | |
| 0.001 | Liver neoplasms | NA | BeFree | Detail | |
| 0.002 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
| <0.001 | Lupus Erythematosus, Systemic | NA | BeFree | Detail | |
| 0.002 | Lymphatic Metastasis | NA | GAD | Detail | |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| <0.001 | mastocytosis | NA | BeFree | Detail | |
| <0.001 | measles | NA | BeFree | Detail | |
| 0.005 | melanoma | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Monoclonal Gammopathy of Undetermined Significance | NA | BeFree | Detail | |
| 0.012 | multiple myeloma | NA | BeFree,GAD,LHGDN | Detail | |
| 0.003 | multiple sclerosis | NA | LHGDN | Detail | |
| <0.001 | muscular atrophy | NA | BeFree | Detail | |
| 0.002 | Musculoskeletal Diseases | NA | GAD | Detail | |
| 0.080 | myocardial infarction | IL6R haplotype associations with C-reactive protein (CRP), fibrinogen, IL6, solu... | BeFree,RGD | 25781951 | Detail |
| <0.001 | Neoplasm Metastasis | In transformed cells, enforced expression of SOCS3 or interfering with IL6 pathw... | BeFree | 24531711 | Detail |
| <0.001 | neuroblastoma | NA | BeFree | Detail | |
| 0.014 | obesity | NA | BeFree,GAD | Detail | |
| 0.080 | orchitis | NA | RGD | Detail | |
| <0.001 | Degenerative polyarthritis | Secreted Frizzled-related protein 3 (sFRP3)-mediated suppression of interleukin-... | BeFree | 25846075 | Detail |
| 0.120 | osteoporosis | NA | CTD_human | Detail | |
| <0.001 | osteosarcoma | NA | BeFree | Detail | |
| 0.003 | otitis media | NA | LHGDN | Detail | |
| <0.001 | ovarian carcinoma | Interleukin 6 receptor is an independent prognostic factor and a potential thera... | BeFree | 25658637 | Detail |
| 0.003 | Pancreatic Neoplasm | NA | LHGDN | Detail | |
| <0.001 | tropical spastic paraparesis | NA | BeFree | Detail | |
| 0.003 | periodontitis | NA | BeFree,GAD | Detail | |
| <0.001 | pituitary adenoma | NA | BeFree | Detail | |
| <0.001 | Pituitary Diseases | NA | BeFree | Detail | |
| <0.001 | Pituitary Neoplasms | NA | BeFree | Detail | |
| <0.001 | plasmacytoma | NA | BeFree | Detail | |
| 0.002 | pre-eclampsia | NA | GAD | Detail | |
| 0.002 | Pregnancy Complications, Hematologic | NA | GAD | Detail | |
| <0.001 | Prostatic Neoplasms | NA | BeFree | Detail | |
| <0.001 | pulmonary fibrosis | NA | BeFree | Detail | |
| 0.080 | Reperfusion Injury | NA | CTD_mouse | Detail | |
| 0.002 | Respiratory Syncytial Virus Infections | NA | GAD | Detail | |
| 0.123 | schizophrenia | Family-based association study of interleukin 6 (IL6) and its receptor (IL6R) fu... | BeFree,CTD_human,LHGDN | 26198920 | Detail |
| 0.080 | Seizures | NA | RGD | Detail | |
| 0.002 | Dermatologic disorders | NA | GAD | Detail | |
| 0.002 | Skin Neoplasms | NA | GAD | Detail | |
| 0.120 | Stomach Neoplasms | NA | CTD_human | Detail | |
| 0.003 | Cerebrovascular accident | NA | LHGDN | Detail | |
| 0.002 | Thoracic Neoplasms | NA | GAD | Detail | |
| 0.003 | Thyroid Nodule | NA | LHGDN | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| <0.001 | urticaria pigmentosa | NA | BeFree | Detail | |
| 0.080 | sciatic neuropathy | NA | RGD | Detail | |
| 0.019 | Premature Birth | NA | GAD,LHGDN | Detail | |
| <0.001 | Joint swelling | NA | BeFree | Detail | |
| <0.001 | Diabetes | IL6R genetic variations, especially SNP7 (rs8192284, Asp358Ala), were significan... | BeFree | 17898129 | Detail |
| 0.122 | Fibrinogen Adverse Event | [A genome-wide survey of the human genome identifies novel loci related to commo... | GAD | 20031577 | Detail |
| 0.003 | diabetes mellitus | IL6R genetic variations, especially SNP7 (rs8192284, Asp358Ala), were significan... | BeFree | 17898129 | Detail |
| <0.001 | Aortic Aneurysm, Abdominal | NA | BeFree | Detail | |
| 0.003 | hyperandrogenism | NA | BeFree,GAD | Detail | |
| <0.001 | cholangiocarcinoma | An interleukin-6 receptor polymorphism is associated with opisthorchiasis-linked... | BeFree | 25041016 | Detail |
| <0.001 | Fibrillation | A variant of IL6R is associated with the recurrence of atrial fibrillation after... | BeFree | 24940886 | Detail |
| <0.001 | pycnodysostosis | NA | BeFree | Detail | |
| 0.010 | Malignant neoplasm of lung | We analyzed levels of interleukin 6 (IL6) and its receptor (IL6R) in human colon... | BeFree,GAD | 25461668 | Detail |
| <0.001 | Chronic Periodontitis | Our results suggest that the IL-6 -1363 G/T and IL-6R +48892 A/C polymorphisms m... | BeFree | 23433353 | Detail |
| <0.001 | Breast cancer stage II | NA | BeFree | Detail | |
| <0.001 | gastric adenocarcinoma | NA | BeFree | Detail | |
| <0.001 | Obesity, Abdominal | NA | BeFree | Detail | |
| <0.001 | Multiple malignancy | NA | BeFree | Detail | |
| <0.001 | Human immunodeficiency virus, type 2 [HIV-2] infection in conditions classified elsewhere and of unspecified site | NA | BeFree | Detail | |
| <0.001 | Chronic Kidney Insufficiency | Association of a polymorphism of the interleukin 6 receptor gene with chronic ki... | BeFree | 25524550 | Detail |
| <0.001 | endometrial carcinoma | IL6/JAK1/STAT3 Signaling Blockade in Endometrial Cancer Affects the ALDHhi/CD126... | BeFree | 26130650 | Detail |
| 0.001 | Metabolic syndrome X | NA | BeFree | Detail | |
| 0.007 | Malignant neoplasm of esophagus | NA | GAD | Detail | |
| <0.001 | Osteosarcoma of bone | NA | BeFree | Detail | |
| 0.003 | Hashimoto Disease | NA | LHGDN | Detail | |
| 0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of lung | We analyzed levels of interleukin 6 (IL6) and its receptor (IL6R) in human colon... | BeFree | 25461668 | Detail |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of bladder | NA | BeFree | Detail | |
| <0.001 | Central neuroblastoma | NA | BeFree | Detail | |
| 0.080 | Infarction, Middle Cerebral Artery | NA | CTD_mouse | Detail | |
| <0.001 | Spondylarthritis | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of ovary | Interleukin 6 receptor is an independent prognostic factor and a potential thera... | BeFree | 25658637 | Detail |
| <0.001 | Primary Effusion Lymphoma | Although we found the production of VEGF and IL-6, and the expression of IL-6Rα ... | BeFree | 25304617 | Detail |
| 0.120 | Multi-centric Castleman's Disease | NA | ORPHANET | Detail | |
| <0.001 | Xenograft Model | In transformed cells, enforced expression of SOCS3 or interfering with IL6 pathw... | BeFree | 24531711 | Detail |
| <0.001 | Chronic Kidney Diseases | Association of a polymorphism of the interleukin 6 receptor gene with chronic ki... | BeFree | 25524550 | Detail |
| 0.122 | Fibrinogen Adverse Event | NA | GAD,GWASCAT | Detail | |
| <0.001 | Benign Prostatic Hyperplasia | NA | BeFree | Detail | |
| <0.001 | Idiopathic Pulmonary Fibrosis | NA | BeFree | Detail | |
| <0.001 | uterine corpus cancer | IL6/JAK1/STAT3 Signaling Blockade in Endometrial Cancer Affects the ALDHhi/CD126... | BeFree | 26130650 | Detail |
| 0.003 | coronary artery disease | Interleukin-6 receptor (IL-6R) gene Asp358Ala (A>C, rs2228145) polymorphism has ... | BeFree,GAD | 24717336 | Detail |
| 0.001 | liver carcinoma | NA | BeFree | Detail | |
| 0.002 | Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified | NA | GAD | Detail | |
| 0.002 | myelodysplastic syndrome | NA | GAD | Detail | |
| 0.005 | Infection | NA | GAD | Detail | |
| 0.248 | rheumatoid arthritis | [Influence of IL6R rs8192284 polymorphism status in disease activity in rheumato... | GAD | 20551110 | Detail |
| 0.248 | rheumatoid arthritis | Influence of IL6R rs8192284 polymorphism status in disease activity in rheumatoi... | BeFree | 20551110 | Detail |
| 0.122 | Fibrinogen Adverse Event | Novel loci, including those related to Crohn disease, psoriasis, and inflammatio... | GWASCAT | 20031577 | Detail |
| 0.248 | rheumatoid arthritis | Plasma soluble IL-6 receptor concentration in rheumatoid arthritis: associations... | BeFree | 20661738 | Detail |
| 0.080 | Acute-Phase Reaction | NA | RGD | Detail | |
| 0.005 | Alzheimer's disease | NA | GAD | Detail | |
| <0.001 | Cooley's anemia | NA | BeFree | Detail | |
| 0.248 | rheumatoid arthritis | NA | BeFree,CTD_human,GAD,GWASCAT | Detail | |
| 0.131 | asthma | NA | BeFree,GAD,GWASCAT | Detail | |
| 0.003 | Autoimmune Diseases | NA | LHGDN | Detail | |
| 0.003 | Malignant neoplasm of urinary bladder | NA | BeFree,GAD | Detail | |
| 0.001 | Malignant neoplasm of breast | NA | BeFree | Detail | |
| 0.002 | Bronchiolitis, Viral | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of endometrium | IL6/JAK1/STAT3 Signaling Blockade in Endometrial Cancer Affects the ALDHhi/CD126... | BeFree | 26130650 | Detail |
| 0.120 | Non-small cell lung carcinoma | NA | BeFree,CTD_human | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| An association study between genetic polymorphism in the interleukin-6 receptor gene and coronary he... | DisGeNET | Detail |
| Analysis of the role of interleukin 6 receptor haplotypes in the regulation of circulating levels of... | DisGeNET | Detail |
| An association study between genetic polymorphism in the interleukin-6 receptor gene and coronary he... | DisGeNET | Detail |
| Analysis of the role of interleukin 6 receptor haplotypes in the regulation of circulating levels of... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| IL6R haplotype associations with C-reactive protein (CRP), fibrinogen, IL6, soluble IL6R (sIL6R), IL... | DisGeNET | Detail |
| In transformed cells, enforced expression of SOCS3 or interfering with IL6 pathway via IL6R blockade... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Secreted Frizzled-related protein 3 (sFRP3)-mediated suppression of interleukin-6 receptor release b... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Interleukin 6 receptor is an independent prognostic factor and a potential therapeutic target of ova... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Family-based association study of interleukin 6 (IL6) and its receptor (IL6R) functional polymorphis... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| IL6R genetic variations, especially SNP7 (rs8192284, Asp358Ala), were significantly associated with ... | DisGeNET | Detail |
| [A genome-wide survey of the human genome identifies novel loci related to common chronic inflammato... | DisGeNET | Detail |
| IL6R genetic variations, especially SNP7 (rs8192284, Asp358Ala), were significantly associated with ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| An interleukin-6 receptor polymorphism is associated with opisthorchiasis-linked cholangiocarcinoma ... | DisGeNET | Detail |
| A variant of IL6R is associated with the recurrence of atrial fibrillation after catheter ablation i... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We analyzed levels of interleukin 6 (IL6) and its receptor (IL6R) in human colon and lung cancer cel... | DisGeNET | Detail |
| Our results suggest that the IL-6 -1363 G/T and IL-6R +48892 A/C polymorphisms may contribute to gen... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Association of a polymorphism of the interleukin 6 receptor gene with chronic kidney disease in Japa... | DisGeNET | Detail |
| IL6/JAK1/STAT3 Signaling Blockade in Endometrial Cancer Affects the ALDHhi/CD126+ Stem-like Componen... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We analyzed levels of interleukin 6 (IL6) and its receptor (IL6R) in human colon and lung cancer cel... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Interleukin 6 receptor is an independent prognostic factor and a potential therapeutic target of ova... | DisGeNET | Detail |
| Although we found the production of VEGF and IL-6, and the expression of IL-6Rα in PEL cell lines, b... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In transformed cells, enforced expression of SOCS3 or interfering with IL6 pathway via IL6R blockade... | DisGeNET | Detail |
| Association of a polymorphism of the interleukin 6 receptor gene with chronic kidney disease in Japa... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| IL6/JAK1/STAT3 Signaling Blockade in Endometrial Cancer Affects the ALDHhi/CD126+ Stem-like Componen... | DisGeNET | Detail |
| Interleukin-6 receptor (IL-6R) gene Asp358Ala (A>C, rs2228145) polymorphism has been associated with... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| [Influence of IL6R rs8192284 polymorphism status in disease activity in rheumatoid arthritis.] | DisGeNET | Detail |
| Influence of IL6R rs8192284 polymorphism status in disease activity in rheumatoid arthritis. | DisGeNET | Detail |
| Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a g... | DisGeNET | Detail |
| Plasma soluble IL-6 receptor concentration in rheumatoid arthritis: associations with the rs8192284 ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| IL6/JAK1/STAT3 Signaling Blockade in Endometrial Cancer Affects the ALDHhi/CD126+ Stem-like Componen... | DisGeNET | Detail |
| NA | 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
- rs8192284 dbSNP
- Genome
- hg38
- Position
- chr1:154,405,193-154,469,450
- Variant Type
- snv
Genome browser