chr1:67604670:> Detail (hg19)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:67,604,670-67,725,662 |
hg38 | chr1:67,138,987-67,259,979 |
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 |
---|---|---|---|---|---|
0.003 | Cardiomyopathy, Dilated | NA | BeFree,GAD | Detail | |
0.014 | celiac disease | NA | BeFree,GAD,LHGDN | Detail | |
<0.001 | colitis | NA | BeFree | Detail | |
<0.001 | Non-small cell lung carcinoma | Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in dif... | BeFree | 21412764 | Detail |
<0.001 | Colorectal Neoplasms | These results suggest that TLR4, IL17A, IL17F and IL23R polymorphisms as well as... | BeFree | 25911397 | Detail |
<0.001 | Dermatitis, Atopic | We found no evidence of any effect of IL-17A or IL-23R SNPs on the occurrence of... | BeFree | 25223230 | Detail |
<0.001 | scleroderma | NA | BeFree | Detail | |
0.005 | Diabetes Mellitus, Insulin-Dependent | NA | BeFree,GAD | Detail | |
0.005 | Diabetes Mellitus, Non-Insulin-Dependent | Genetic variation at IL12B, IL23R and IL23A is associated with psoriasis severit... | BeFree,GAD | 24957500 | Detail |
<0.001 | Eczema | We found no evidence of any effect of IL-17A or IL-23R SNPs on the occurrence of... | BeFree | 25223230 | Detail |
<0.001 | Experimental Autoimmune Encephalomyelitis | In vivo IL-7/anti-IL-7 mAb complexes selectively expanded and enhanced the proli... | BeFree | 26223651 | Detail |
0.003 | Esophageal Achalasia | NA | BeFree,GAD | Detail | |
<0.001 | Esophageal Neoplasms | NA | BeFree | Detail | |
0.002 | Femur Head Necrosis | NA | GAD | Detail | |
0.002 | Fuchs Endothelial Dystrophy | NA | GAD | Detail | |
<0.001 | gastritis | These results suggest that IL-17A G197A, IL-17F A7488G and IL23R +2199A/C polymo... | BeFree | 26151690 | Detail |
0.005 | Graft-vs-Host Disease | NA | BeFree,GAD | Detail | |
0.003 | Graves Disease | NA | BeFree,GAD | Detail | |
0.002 | Growth Disorders | NA | GAD | Detail | |
<0.001 | hepatitis B | NA | BeFree | Detail | |
0.002 | Hypertensive disease | NA | GAD | Detail | |
0.003 | pulmonary hypertension | NA | BeFree,GAD | Detail | |
<0.001 | Immune System Diseases | NA | BeFree | Detail | |
0.002 | Intestinal Fistula | NA | GAD | Detail | |
0.002 | intestinal obstruction | NA | GAD | Detail | |
0.003 | irritable bowel syndrome | NA | BeFree,GAD | Detail | |
<0.001 | arthropathy | NA | BeFree | Detail | |
0.121 | leprosy | NA | BeFree,CTD_human | Detail | |
<0.001 | Leukemia, Myelocytic, Acute | NA | BeFree | Detail | |
0.008 | Lupus Erythematosus, Systemic | NA | BeFree,GAD | Detail | |
<0.001 | Lyme disease | NA | BeFree | Detail | |
0.002 | Animal Mammary Neoplasms | NA | GAD | Detail | |
0.016 | multiple sclerosis | Our study showed that the IL12B and IL23R gene SNPs does not seem to be associat... | BeFree,GAD,LHGDN | 24547735 | Detail |
<0.001 | Mycobacterium Infections | NA | BeFree | Detail | |
0.003 | myocardial infarction | NA | BeFree,GAD | Detail | |
<0.001 | Neoplasm Metastasis | This study shows that TLR4, IL17A/F and IL23R polymorphisms are involved in the ... | BeFree | 25911397 | Detail |
<0.001 | Neoplasm Metastasis | In colorectal cancer, elevated expression of IL-23, IL-23 receptor and IL-17A ha... | BeFree | 26457610 | Detail |
0.003 | Bone necrosis | NA | LHGDN | Detail | |
<0.001 | paracoccidioidomycosis | NA | BeFree | Detail | |
0.311 | psoriasis | The subunit of IL-23 (IL12B) and its receptor (IL23R) gene single-nucleotide pol... | BeFree,CTD_human,GAD,GWASCAT,LHGDN | 24547735 | Detail |
0.311 | psoriasis | Significant associations were found for paediatric-onset psoriasis with ERAP1 (p... | BeFree,CTD_human,GAD,GWASCAT,LHGDN | 24791935 | Detail |
0.311 | psoriasis | Genetic variation at IL12B, IL23R and IL23A is associated with psoriasis severit... | BeFree,CTD_human,GAD,GWASCAT,LHGDN | 24957500 | Detail |
0.311 | psoriasis | After our first psoriasis genome-wide association study, we designed a custom ge... | BeFree,CTD_human,GAD,GWASCAT,LHGDN | 25182136 | Detail |
0.002 | Rectal Fistula | NA | GAD | Detail | |
<0.001 | Rectal Neoplasms | NA | BeFree | Detail | |
0.002 | Respiratory Syncytial Virus Infections | NA | GAD | Detail | |
<0.001 | Salmonella infections | NA | BeFree | Detail | |
0.003 | systemic scleroderma | NA | BeFree,GAD | Detail | |
0.002 | Dermatologic disorders | NA | GAD | Detail | |
0.281 | ankylosing spondylitis | The subunit of IL-23 (IL12B) and its receptor (IL23R) gene single-nucleotide pol... | BeFree,CTD_human,GAD,GWASCAT,LHGDN | 24547735 | Detail |
0.281 | ankylosing spondylitis | Determination of IL-23 receptor gene polymorphism in Iranian patients with ankyl... | BeFree,CTD_human,GAD,GWASCAT,LHGDN | 24998354 | Detail |
0.002 | Stomach Neoplasms | NA | GAD | Detail | |
<0.001 | Giant Cell Arteritis | NA | BeFree | Detail | |
0.003 | Thyroid Diseases | NA | LHGDN | Detail | |
0.002 | Tobacco use disorder | NA | GAD | Detail | |
<0.001 | tuberculosis | A number of models were successfully validated, indicating that interplay betwee... | BeFree | 25919455 | Detail |
<0.001 | uveitis | NA | BeFree | Detail | |
<0.001 | anterior uveitis | NA | BeFree | Detail | |
0.123 | Uveomeningoencephalitic Syndrome | No association of CNVs in IL17A and IL23R was found for BD and VKH syndrome. | BeFree,GAD,GWASCAT | 25439430 | Detail |
0.123 | Uveomeningoencephalitic Syndrome | Genome wide association studies showed that the IL-23R locus was a shared risk f... | BeFree,GAD,GWASCAT | 26310161 | Detail |
<0.001 | acute leukemia | NA | BeFree | Detail | |
<0.001 | Squamous cell carcinoma of lung | NA | BeFree | Detail | |
<0.001 | Small cell carcinoma of lung | NA | BeFree | Detail | |
<0.001 | Adenocarcinoma of lung (disorder) | NA | BeFree | Detail | |
<0.001 | esophageal carcinoma | NA | BeFree | Detail | |
<0.001 | Malignant neoplasm of mouth | NA | BeFree | Detail | |
<0.001 | Malignant neoplasm of nasopharynx | NA | BeFree | Detail | |
<0.001 | Autoimmune thyroid disease | NA | BeFree | Detail | |
<0.001 | Lip and oral cavity carcinoma | NA | BeFree | Detail | |
<0.001 | Cancer of Nasopharynx | NA | BeFree | Detail | |
<0.001 | Carcinoma, Small Cell | NA | BeFree | Detail | |
<0.001 | Psoriasis vulgaris | NA | BeFree | Detail | |
<0.001 | Stenosis of intestine | NA | BeFree | Detail | |
<0.001 | Squamous cell carcinoma of esophagus | NA | BeFree | Detail | |
<0.001 | Transitional cell carcinoma of bladder | To assess whether polymorphisms of the interleukin-23 receptor (IL23R) gene are ... | BeFree | 24861772 | Detail |
<0.001 | Solid tumour | NA | BeFree | Detail | |
<0.001 | Superficial ulcer | NA | BeFree | Detail | |
0.005 | Thyroid associated opthalmopathies | NA | BeFree,GAD | Detail | |
0.003 | Hematologic Neoplasms | NA | BeFree,GAD | Detail | |
<0.001 | Primary immune deficiency disorder | NA | BeFree | Detail | |
<0.001 | Malignant neoplasm of esophagus | NA | BeFree | Detail | |
<0.001 | Sacroiliitis | NA | BeFree | Detail | |
0.001 | Carcinogenesis | To assess whether polymorphisms of the interleukin-23 receptor (IL23R) gene are ... | BeFree | 24861772 | Detail |
0.003 | Hashimoto Disease | Decreased expression of microRNA-125a-3p upregulates interleukin-23 receptor in ... | BeFree,GAD | 25863684 | Detail |
<0.001 | breast carcinoma | NA | BeFree | Detail | |
<0.001 | Secondary malignant neoplasm of lymph node | Cytoplasmic/membranous expression of IL-23 (p19 and p40 subunits) and IL-23R, re... | BeFree | 25015728 | Detail |
<0.001 | colon carcinoma | Considering the tumor location, we found that the mutated alleles of IL17A, IL17... | BeFree | 25911397 | Detail |
<0.001 | Carcinoma of bladder | Association of interleukin-23 receptor gene polymorphisms with risk of bladder c... | BeFree | 24861772 | Detail |
<0.001 | Acute anterior uveitis | NA | BeFree | Detail | |
<0.001 | Cancer of Digestive System | NA | BeFree | Detail | |
0.080 | Myasthenia Gravis, Autoimmune, Experimental | NA | RGD | Detail | |
<0.001 | Acute GVH disease | NA | BeFree | Detail | |
<0.001 | Pancolitis | NA | BeFree | Detail | |
0.005 | autoimmune thyroiditis | NA | GAD | Detail | |
<0.001 | Spondylarthritis | NA | BeFree | Detail | |
0.003 | Malignant neoplasm of ovary | NA | BeFree,GAD | Detail | |
0.002 | Stenosis | NA | GAD | Detail | |
<0.001 | Enthesitis | NA | BeFree | Detail | |
<0.001 | Inflammatory disorder | Several IL-23R alleles have been associated with susceptibility to both autoimmu... | BeFree | 24912586 | Detail |
<0.001 | Inflammatory disorder | IL-17 family of cytokines and human IL-23R play important and sometimes contradi... | BeFree | 25680555 | Detail |
<0.001 | Precursor B-cell lymphoblastic leukemia | NA | BeFree | Detail | |
<0.001 | Adenoma of large intestine | NA | BeFree | Detail | |
<0.001 | Sporadic Breast Carcinoma | NA | BeFree | Detail | |
0.002 | Mammary Neoplasms | NA | GAD | Detail | |
<0.001 | Salivary Gland Pleomorphic Adenoma | NA | BeFree | Detail | |
0.003 | Sjogren's syndrome | NA | BeFree,GAD | Detail | |
<0.001 | Rectal Tumors | NA | BeFree | Detail | |
<0.001 | Non-Malignant Ascites Adverse Event | NA | BeFree | Detail | |
0.003 | coronary artery disease | NA | BeFree,GAD | Detail | |
<0.001 | liver carcinoma | Genetic polymorphism of IL-23R influences susceptibility to HCV-related hepatoce... | BeFree | 25666505 | Detail |
0.240 | inflammatory bowel disease 17 | NA | CTD_human,UNIPROT | Detail | |
0.007 | Chronic ulcerative colitis | NA | GAD | Detail | |
<0.001 | Pediatric Crohn's disease | NA | BeFree | Detail | |
<0.001 | Nasopharyngeal carcinoma | NA | BeFree | Detail | |
<0.001 | Juvenile arthritis | NA | BeFree | Detail | |
<0.001 | juvenile rheumatoid arthritis | NA | BeFree | Detail | |
<0.001 | Juvenile psoriatic arthritis | NA | BeFree | Detail | |
<0.001 | Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia | NA | BeFree | Detail | |
0.120 | Inflammatory dermatosis | NA | GWASCAT | Detail | |
<0.001 | Alzheimer's disease | NA | BeFree | Detail | |
0.002 | aplastic anemia | NA | GAD | Detail | |
<0.001 | arthritis | NA | BeFree | Detail | |
0.013 | rheumatoid arthritis | IL-17A, IL-17F and IL-23R Gene Polymorphisms in Polish Patients with Rheumatoid ... | BeFree,GAD,LHGDN | 25387578 | Detail |
0.003 | asthma | NA | BeFree,GAD | Detail | |
0.007 | Autoimmune Diseases | Interleukin-23 receptor (IL-23R) and signal transducer and activator of transcri... | BeFree | 24460100 | Detail |
0.007 | Autoimmune Diseases | The subunit of IL-23 (IL12B) and its receptor (IL23R) gene single-nucleotide pol... | BeFree | 24547735 | Detail |
0.007 | Autoimmune Diseases | Interleukin IL-23 receptor (IL-23R) is increasingly recognized as a key checkpoi... | BeFree | 25863684 | Detail |
0.003 | Barrett esophagus | NA | LHGDN | Detail | |
0.130 | Behcet Syndrome | Association of interleukin-23 receptor gene polymorphism with Behçet disease. | BeFree,GAD,ORPHANET | 25156021 | Detail |
0.130 | Behcet Syndrome | No association of CNVs in IL17A and IL23R was found for BD and VKH syndrome. | BeFree,GAD,ORPHANET | 25439430 | Detail |
0.130 | Behcet Syndrome | On the genetics of the Silk Route: association analysis of HLA, IL10, and IL23R-... | BeFree,GAD,ORPHANET | 25940109 | Detail |
0.130 | Behcet Syndrome | Behçet's disease (BD) is an immune-mediated and complex disease which has been a... | BeFree,GAD,ORPHANET | 26005883 | Detail |
0.130 | Behcet Syndrome | We tested 14 single-nucleotide polymorphisms (SNPs) in 13 genomic loci (excludin... | BeFree,GAD,ORPHANET | 26097239 | Detail |
<0.001 | Malignant neoplasm of urinary bladder | Association of interleukin-23 receptor gene polymorphisms with risk of bladder c... | BeFree | 24861772 | Detail |
<0.001 | Malignant neoplasm of breast | NA | BeFree | Detail | |
0.002 | Bronchiolitis, Viral | NA | GAD | Detail | |
<0.001 | Malignant tumor of colon | Considering the tumor location, we found that the mutated alleles of IL17A, IL17... | BeFree | 25911397 | Detail |
<0.001 | Rectal Carcinoma | Considering the tumor location, we found that the mutated alleles of IL17A, IL17... | BeFree | 25911397 | Detail |
<0.001 | Non-small cell lung carcinoma | NA | BeFree | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in different genetic model... | DisGeNET | Detail |
These results suggest that TLR4, IL17A, IL17F and IL23R polymorphisms as well as the expression of m... | DisGeNET | Detail |
We found no evidence of any effect of IL-17A or IL-23R SNPs on the occurrence of AD in our Polish po... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Genetic variation at IL12B, IL23R and IL23A is associated with psoriasis severity, psoriatic arthrit... | DisGeNET | Detail |
We found no evidence of any effect of IL-17A or IL-23R SNPs on the occurrence of AD in our Polish po... | DisGeNET | Detail |
In vivo IL-7/anti-IL-7 mAb complexes selectively expanded and enhanced the proliferation of CXCR3-ex... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
These results suggest that IL-17A G197A, IL-17F A7488G and IL23R +2199A/C polymorphisms no alter muc... | 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 |
Our study showed that the IL12B and IL23R gene SNPs does not seem to be associated with MS susceptib... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
This study shows that TLR4, IL17A/F and IL23R polymorphisms are involved in the presentation of the ... | DisGeNET | Detail |
In colorectal cancer, elevated expression of IL-23, IL-23 receptor and IL-17A has been linked to adv... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
The subunit of IL-23 (IL12B) and its receptor (IL23R) gene single-nucleotide polymorphisms (SNPs) ha... | DisGeNET | Detail |
Significant associations were found for paediatric-onset psoriasis with ERAP1 (p = 0.002), IL23R (p ... | DisGeNET | Detail |
Genetic variation at IL12B, IL23R and IL23A is associated with psoriasis severity, psoriatic arthrit... | DisGeNET | Detail |
After our first psoriasis genome-wide association study, we designed a custom genotyping array to fi... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
The subunit of IL-23 (IL12B) and its receptor (IL23R) gene single-nucleotide polymorphisms (SNPs) ha... | DisGeNET | Detail |
Determination of IL-23 receptor gene polymorphism in Iranian patients with ankylosing spondylitis. | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
A number of models were successfully validated, indicating that interplay between the NRG1 - NRG3, G... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
No association of CNVs in IL17A and IL23R was found for BD and VKH syndrome. | DisGeNET | Detail |
Genome wide association studies showed that the IL-23R locus was a shared risk factor for multiple u... | 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 |
To assess whether polymorphisms of the interleukin-23 receptor (IL23R) gene are associated with blad... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
To assess whether polymorphisms of the interleukin-23 receptor (IL23R) gene are associated with blad... | DisGeNET | Detail |
Decreased expression of microRNA-125a-3p upregulates interleukin-23 receptor in patients with Hashim... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Cytoplasmic/membranous expression of IL-23 (p19 and p40 subunits) and IL-23R, respectively were over... | DisGeNET | Detail |
Considering the tumor location, we found that the mutated alleles of IL17A, IL17F and IL23R are rath... | DisGeNET | Detail |
Association of interleukin-23 receptor gene polymorphisms with risk of bladder cancer in Chinese. | 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 |
Several IL-23R alleles have been associated with susceptibility to both autoimmune and inflammatory ... | DisGeNET | Detail |
IL-17 family of cytokines and human IL-23R play important and sometimes contradictory roles in autoi... | 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 |
Genetic polymorphism of IL-23R influences susceptibility to HCV-related hepatocellular carcinoma. | 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 |
IL-17A, IL-17F and IL-23R Gene Polymorphisms in Polish Patients with Rheumatoid Arthritis. | DisGeNET | Detail |
NA | DisGeNET | Detail |
Interleukin-23 receptor (IL-23R) and signal transducer and activator of transcription 3 (STAT3) poly... | DisGeNET | Detail |
The subunit of IL-23 (IL12B) and its receptor (IL23R) gene single-nucleotide polymorphisms (SNPs) ha... | DisGeNET | Detail |
Interleukin IL-23 receptor (IL-23R) is increasingly recognized as a key checkpoint in autoimmune dis... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Association of interleukin-23 receptor gene polymorphism with Behçet disease. | DisGeNET | Detail |
No association of CNVs in IL17A and IL23R was found for BD and VKH syndrome. | DisGeNET | Detail |
On the genetics of the Silk Route: association analysis of HLA, IL10, and IL23R-IL12RB2 regions with... | DisGeNET | Detail |
Behçet's disease (BD) is an immune-mediated and complex disease which has been associated with HLA c... | DisGeNET | Detail |
We tested 14 single-nucleotide polymorphisms (SNPs) in 13 genomic loci (excluding the major histocom... | DisGeNET | Detail |
Association of interleukin-23 receptor gene polymorphisms with risk of bladder cancer in Chinese. | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Considering the tumor location, we found that the mutated alleles of IL17A, IL17F and IL23R are rath... | DisGeNET | Detail |
Considering the tumor location, we found that the mutated alleles of IL17A, IL17F and IL23R are rath... | 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
- rs386586050 dbSNP
- Genome
- hg19
- Position
- chr1:67,604,670-67,725,662
- Variant Type
- snv
Genome browser