chr6:137197483:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:137,518,620-137,540,586 |
| hg38 | chr6:137,197,483-137,219,449 |
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 |
|---|---|---|---|---|---|
| 0.002 | chorioamnionitis | NA | GAD | Detail | |
| <0.001 | colorectal carcinoma | Seven SNPs in IFNA1, IFNA13, IFNA21, IFNK, IFNAR1 and IFNGR1 were associated wit... | BeFree | 25350395 | Detail |
| <0.001 | colorectal carcinoma | Thus, our results strongly support the notion that IFN-γ and IFNγR1 act as a rat... | BeFree | 25383957 | Detail |
| 0.002 | Coronary Arteriosclerosis | NA | GAD | Detail | |
| <0.001 | cystic fibrosis | NA | BeFree | Detail | |
| <0.001 | Dermatitis, Atopic | NA | BeFree | Detail | |
| 0.002 | drug allergy | NA | GAD | Detail | |
| <0.001 | eclampsia | NA | BeFree | Detail | |
| <0.001 | Eczema | NA | BeFree | Detail | |
| 0.120 | endometriosis | NA | CTD_human | Detail | |
| <0.001 | Esophageal Neoplasms | NA | BeFree | Detail | |
| 0.002 | Fetal Membranes, Premature Rupture | NA | GAD | Detail | |
| 0.003 | Fibrosis | NA | LHGDN | Detail | |
| 0.002 | gastritis | NA | GAD | Detail | |
| <0.001 | Gastritis, Atrophic | NA | BeFree | Detail | |
| <0.001 | Gingival Diseases | NA | BeFree | Detail | |
| 0.120 | IgA glomerulonephritis | NA | CTD_human | Detail | |
| 0.120 | hepatitis B | NA | BeFree,CTD_human | Detail | |
| <0.001 | Hepatitis, Chronic | NA | BeFree | Detail | |
| 0.005 | hepatitis C | NA | BeFree,GAD | Detail | |
| <0.001 | Histiocytosis, Langerhans-Cell | NA | BeFree | Detail | |
| 0.003 | HIV Infections | NA | BeFree,GAD | Detail | |
| <0.001 | Hypergammaglobulinemia | IFN-γ inhibited cTFH cell function in vitro and in vivo, as corroborated by hype... | BeFree | 26162572 | Detail |
| 0.002 | Immediate hypersensitivity | NA | GAD | Detail | |
| 0.002 | Inflammatory Bowel Diseases | NA | GAD | Detail | |
| <0.001 | ischemia | NA | BeFree | Detail | |
| 0.002 | Premature Obstetric Labor | NA | GAD | Detail | |
| <0.001 | Leishmaniasis, Visceral | Insights into the possible role of IFNG and IFNGR1 in Kala-azar and Post Kala-az... | BeFree | 25466928 | Detail |
| 0.003 | chronic lymphocytic leukemia | NA | LHGDN | Detail | |
| 0.005 | Myeloid Leukemia, Chronic | NA | GAD | Detail | |
| 0.002 | liver cirrhosis | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of stomach | Association study of SNPs of genes IFNGR1 (rs137854905), GSTT1 (rs71748309), and... | BeFree | 24453034 | Detail |
| <0.001 | stomach carcinoma | Association study of SNPs of genes IFNGR1 (rs137854905), GSTT1 (rs71748309), and... | BeFree | 24453034 | Detail |
| <0.001 | Lung diseases | NA | BeFree | Detail | |
| 0.002 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
| 0.002 | Lupus Vulgaris | NA | GAD | Detail | |
| 0.002 | Lupus Erythematosus, Discoid | NA | GAD | Detail | |
| 0.008 | Lupus Erythematosus, Systemic | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | lymphadenitis | NA | BeFree | Detail | |
| 0.003 | lymphocytic choriomeningitis | NA | LHGDN | Detail | |
| <0.001 | malaria | Pro-inflammatory cytokines IFNγ and IFNα function through their cellular recepto... | BeFree | 25445652 | Detail |
| 0.006 | Malaria, Cerebral | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Malaria, Falciparum | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| 0.005 | Mycobacterium Infections | NA | BeFree | Detail | |
| 0.120 | Mycobacterium Infections, Nontuberculous | NA | CTD_human | Detail | |
| 0.003 | myocarditis | NA | LHGDN | Detail | |
| 0.002 | narcolepsy | NA | GAD | Detail | |
| 0.002 | Pathologic Neovascularization | NA | GAD | Detail | |
| 0.004 | osteomyelitis | NA | BeFree,LHGDN | Detail | |
| <0.001 | Parasitic Diseases | NA | BeFree | Detail | |
| <0.001 | Periodontal Diseases | NA | BeFree | Detail | |
| 0.003 | periodontitis | NA | BeFree,GAD | Detail | |
| 0.001 | Post-kala-azar dermal leishmaniasis | Insights into the possible role of IFNG and IFNGR1 in Kala-azar and Post Kala-az... | BeFree | 25466928 | Detail |
| 0.005 | pre-eclampsia | NA | GAD | Detail | |
| 0.002 | Respiratory Syncytial Virus Infections | NA | GAD | Detail | |
| 0.002 | sarcoidosis | NA | GAD | Detail | |
| 0.002 | Stomach Neoplasms | NA | GAD | Detail | |
| 0.003 | subacute sclerosing panencephalitis | NA | BeFree,GAD | Detail | |
| 0.033 | tuberculosis | The present results revealed that certain genetic variants in IFNGR genes may be... | BeFree,GAD,LHGDN | 25815589 | Detail |
| 0.015 | Tuberculosis, Pulmonary | NA | BeFree,GAD,LHGDN | Detail | |
| 0.002 | Viremia | NA | GAD | Detail | |
| 0.003 | AIDS-Associated Nephropathy | NA | LHGDN | Detail | |
| 0.122 | Helicobacter Infections | NA | CTD_human,GAD | Detail | |
| <0.001 | B-Cell Lymphomas | NA | BeFree | Detail | |
| 0.002 | diffuse large B-cell lymphoma | NA | GAD | Detail | |
| 0.002 | Bronchial Hyperreactivity | NA | GAD | Detail | |
| <0.001 | Chronic gastritis | NA | BeFree | Detail | |
| 0.003 | cataract | NA | BeFree,LHGDN | Detail | |
| 0.002 | Premature Birth | NA | GAD | Detail | |
| 0.120 | Myocardial Ischemia | NA | CTD_human | Detail | |
| <0.001 | esophageal carcinoma | NA | BeFree | Detail | |
| <0.001 | Primary tuberculosis | NA | BeFree | Detail | |
| <0.001 | Acute miliary tuberculosis | NA | BeFree | Detail | |
| <0.001 | allergic asthma | NA | BeFree | Detail | |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| 0.003 | Microvascular Angina | NA | LHGDN | Detail | |
| 0.002 | Malignant neoplasm of lung | NA | GAD | Detail | |
| <0.001 | Atopic cataract | NA | BeFree | Detail | |
| <0.001 | Air cyst | NA | BeFree | Detail | |
| <0.001 | Restenosis | NA | BeFree | Detail | |
| <0.001 | Superficial ulcer | We observed significant differences in IFNGR1 expression between patients with R... | BeFree | 25708927 | Detail |
| <0.001 | Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site | Similarly, the IFNGR1 -56C/T polymorphism showed statistical differences between... | BeFree | 24754375 | Detail |
| <0.001 | Primary immune deficiency disorder | Interferon-γ receptor 1 (IFN-γR1) deficiency is one of the primary immunodeficie... | BeFree | 25216720 | Detail |
| 0.005 | lupus erythematosus | NA | GAD | Detail | |
| <0.001 | Bilateral cataracts (disorder) | NA | BeFree | Detail | |
| 0.005 | Hepatitis B, Chronic | NA | BeFree,GAD | Detail | |
| 0.003 | Hepatitis C, Chronic | NA | BeFree,GAD | Detail | |
| <0.001 | Malignant neoplasm of esophagus | NA | BeFree | Detail | |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| <0.001 | Parasitic infection | NA | BeFree | Detail | |
| 0.003 | Helicobacter pylori infection | NA | BeFree,GAD | Detail | |
| <0.001 | Metastatic Prostate Carcinoma | In MYC-driven, but not PI3K-driven prostate cancer, we show that interferon-γ re... | BeFree | 24953652 | Detail |
| <0.001 | precancerous lesions | NA | BeFree | Detail | |
| <0.001 | colorectal cancer | Seven SNPs in IFNA1, IFNA13, IFNA21, IFNK, IFNAR1 and IFNGR1 were associated wit... | BeFree | 25350395 | Detail |
| <0.001 | colorectal cancer | Thus, our results strongly support the notion that IFN-γ and IFNγR1 act as a rat... | BeFree | 25383957 | Detail |
| 0.120 | Helicobacter pylori infection, susceptibility to | NA | CLINVAR | Detail | |
| 0.120 | Hepatitis B virus, susceptibility to | NA | CLINVAR | Detail | |
| 0.120 | Mycobacterium tuberculosis, protection against | NA | CLINVAR | Detail | |
| 0.002 | Allergic rhinitis (disorder) | NA | GAD | Detail | |
| 0.002 | Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified | NA | GAD | Detail | |
| 0.120 | Interferon gamma, receptor 1, deficiency | NA | ORPHANET | Detail | |
| 0.011 | Infection | NA | LHGDN | Detail | |
| <0.001 | Leprosy in children | NA | BeFree | Detail | |
| <0.001 | Infection in children | NA | BeFree | Detail | |
| <0.001 | Disseminated Bacillus Calmette-Guerin Infection | NA | BeFree | Detail | |
| 0.240 | immunodeficiency 27A | NA | ORPHANET,UNIPROT | Detail | |
| 0.120 | immunodeficiency 27B | NA | ORPHANET | Detail | |
| 0.002 | Alzheimer's disease | NA | GAD | Detail | |
| 0.003 | rheumatoid arthritis | We observed significant differences in IFNGR1 expression between patients with R... | BeFree,GAD | 25708927 | Detail |
| 0.002 | atherosclerosis | NA | GAD | Detail | |
| 0.002 | Malignant neoplasm of urinary bladder | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of breast | NA | BeFree | Detail | |
| <0.001 | Rectal Carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| Seven SNPs in IFNA1, IFNA13, IFNA21, IFNK, IFNAR1 and IFNGR1 were associated with CRC risk. | DisGeNET | Detail |
| Thus, our results strongly support the notion that IFN-γ and IFNγR1 act as a rate-limiting factor in... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
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| 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 |
| IFN-γ inhibited cTFH cell function in vitro and in vivo, as corroborated by hypergammaglobulinemia i... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Insights into the possible role of IFNG and IFNGR1 in Kala-azar and Post Kala-azar Dermal Leishmania... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Association study of SNPs of genes IFNGR1 (rs137854905), GSTT1 (rs71748309), and GSTP1 (rs1695) in g... | DisGeNET | Detail |
| Association study of SNPs of genes IFNGR1 (rs137854905), GSTT1 (rs71748309), and GSTP1 (rs1695) in g... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Pro-inflammatory cytokines IFNγ and IFNα function through their cellular receptors IFNγR1 and IFNαR1... | 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 |
| Insights into the possible role of IFNG and IFNGR1 in Kala-azar and Post Kala-azar Dermal Leishmania... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The present results revealed that certain genetic variants in IFNGR genes may be associated with TB ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
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| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We observed significant differences in IFNGR1 expression between patients with RA and control subjec... | DisGeNET | Detail |
| Similarly, the IFNGR1 -56C/T polymorphism showed statistical differences between Hp+ and Hp- (P = 0.... | DisGeNET | Detail |
| Interferon-γ receptor 1 (IFN-γR1) deficiency is one of the primary immunodeficiencies conferring Men... | 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 |
| In MYC-driven, but not PI3K-driven prostate cancer, we show that interferon-γ receptor 1 (IFNGR1) is... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Seven SNPs in IFNA1, IFNA13, IFNA21, IFNK, IFNAR1 and IFNGR1 were associated with CRC risk. | DisGeNET | Detail |
| Thus, our results strongly support the notion that IFN-γ and IFNγR1 act as a rate-limiting factor in... | 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 |
| We observed significant differences in IFNGR1 expression between patients with RA and control subjec... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | 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
- rs71748309 dbSNP
- Genome
- hg38
- Position
- chr6:137,197,483-137,219,449
- Variant Type
- snv
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