chr11:117986394:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr11:117,857,109-117,872,198 
hg38 chr11:117,986,394-118,001,483

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
<0.001 Carotid Artery Diseases NA BeFree Detail
0.002 celiac disease NA GAD Detail
0.002 chorioamnionitis NA GAD Detail
<0.001 colitis NA BeFree Detail
0.006 ulcerative colitis NA BeFree,GAD,LHGDN Detail
0.002 Connective Tissue Diseases NA GAD Detail
0.001 Crohn Disease NA BeFree Detail
0.080 Experimental Autoimmune Encephalomyelitis NA RGD Detail
<0.001 Enterocolitis NA BeFree Detail
0.002 Fetal Diseases NA GAD Detail
0.002 Fetal Membranes, Premature Rupture NA GAD Detail
0.120 IgA glomerulonephritis NA CTD_human Detail
0.002 Graft-vs-Host Disease NA GAD Detail
0.002 hepatitis B NA GAD Detail
0.010 hepatitis C NA BeFree,GAD,LHGDN Detail
0.009 HIV Infections NA GAD Detail
0.002 Hyperparathyroidism, Secondary NA GAD Detail
0.002 Hypersensitivity NA GAD Detail
0.007 Inflammation NA GAD Detail
0.002 Inflammatory Bowel Diseases Particularly, half of the children with infantile-onset IBD had IL-10RA mutation... BeFree 24785691 Detail
0.002 Inflammatory Bowel Diseases This represents the first case report of a de novo mutation of IL-10RA that is a... BeFree 24813381 Detail
0.002 Premature Obstetric Labor NA GAD Detail
0.120 Leishmaniasis, Visceral NA CTD_human Detail
<0.001 leprosy NA BeFree Detail
<0.001 liver cirrhosis NA BeFree Detail
0.005 Chronic Obstructive Airway Disease NA BeFree,GAD,LHGDN Detail
0.003 Lung Neoplasms NA LHGDN Detail
0.008 Lupus Erythematosus, Systemic NA BeFree,GAD,LHGDN Detail
<0.001 lupus nephritis NA BeFree Detail
0.003 lymphoma NA BeFree,GAD Detail
<0.001 Lymphoma, Non-Hodgkin NA BeFree Detail
0.002 Lymphoproliferative Disorders NA GAD Detail
<0.001 malaria NA BeFree Detail
0.002 multiple myeloma NA GAD Detail
0.002 Musculoskeletal Diseases NA GAD Detail
<0.001 nephritis NA BeFree Detail
0.003 obesity NA BeFree,GAD Detail
0.002 pre-eclampsia NA GAD Detail
0.002 Pregnancy Complications, Hematologic NA GAD Detail
0.002 Respiratory Syncytial Virus Infections NA GAD Detail
<0.001 retinal detachment NA BeFree Detail
0.005 schizophrenia NA BeFree,GAD,LHGDN Detail
0.002 Dermatologic disorders NA GAD Detail
<0.001 ankylosing spondylitis NA BeFree Detail
<0.001 trachoma NA BeFree Detail
0.002 Vascular Diseases NA GAD Detail
<0.001 Virus Diseases NA BeFree Detail
<0.001 B-Cell Lymphomas NA BeFree Detail
0.003 diffuse large B-cell lymphoma Gene expression of IL10, IL10RA and IL10RB was markedly elevated in DLBCLs. BeFree,GAD 25733167 Detail
<0.001 Lymphoma, Large-Cell, Follicular NA BeFree Detail
0.002 Lymphoma, AIDS-Related NA GAD Detail
0.002 Central Nervous System Neoplasms NA GAD Detail
0.002 bacterial vaginosis NA GAD Detail
0.012 Premature Birth NA GAD Detail
0.003 Cytomegalovirus retinitis In European Americans (n = 750), a haplotype carrying an amino acid changing var... BeFree 20617924 Detail
<0.001 Secondary malignant neoplasm of lung NA BeFree Detail
<0.001 cervical squamous cell carcinoma Cervical SCC risk was associated with the minor alleles of the IL10RA rs9610 3' ... BeFree 23280621 Detail
0.002 AIDS-Related Opportunistic Infections NA GAD Detail
0.003 Cytomegalovirus retinitis NA BeFree,GAD Detail
<0.001 Fibrosis, Liver NA BeFree Detail
<0.001 Interstitial fibrosis NA BeFree Detail
0.007 Malignant neoplasm of lung NA GAD Detail
0.002 Sepsis NA GAD Detail
<0.001 cervical squamous cell carcinoma NA BeFree Detail
0.002 Hematologic Neoplasms NA GAD Detail
<0.001 Hepatitis C, Chronic NA BeFree Detail
<0.001 Carcinoma of bladder NA BeFree Detail
<0.001 Spondylarthritis NA BeFree Detail
<0.001 Tumor Immunity Our results suggest that mutations that disrupt the interactions of IL-10 with i... BeFree 25056661 Detail
0.002 Cirrhosis NA GAD Detail
0.240 INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE NA CTD_human,UNIPROT Detail
0.002 Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified NA GAD Detail
0.005 Infection NA GAD,LHGDN Detail
0.002 acquired immunodeficiency syndrome NA GAD Detail
<0.001 arthritis NA BeFree Detail
0.003 rheumatoid arthritis NA BeFree,GAD Detail
0.002 asthma NA GAD Detail
0.003 Malignant neoplasm of urinary bladder NA BeFree,GAD Detail
0.002 Bronchiolitis, Viral NA GAD Detail
0.003 renal cell carcinoma NA LHGDN Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
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Particularly, half of the children with infantile-onset IBD had IL-10RA mutations. DisGeNET Detail
This represents the first case report of a de novo mutation of IL-10RA that is associated with very ... DisGeNET Detail
NA DisGeNET Detail
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Gene expression of IL10, IL10RA and IL10RB was markedly elevated in DLBCLs. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
In European Americans (n = 750), a haplotype carrying an amino acid changing variation in the cytopl... DisGeNET Detail
NA DisGeNET Detail
Cervical SCC risk was associated with the minor alleles of the IL10RA rs9610 3' UTR SNP (OR=1.76, 95... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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Our results suggest that mutations that disrupt the interactions of IL-10 with its receptors (IL-10R... DisGeNET Detail
NA DisGeNET Detail
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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
rs386479044 dbSNP
Genome
hg38
Position
chr11:117,986,394-118,001,483
Variant Type
snv
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