chr1:67138987:> Detail (hg38)

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

DescrptionSourceLinks
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
hg38
Position
chr1:67,138,987-67,259,979
Variant Type
snv
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