chr11:92702817:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr11:92,702,817-92,715,948
hg38 chr11:92,969,651-92,982,782 

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 Child Development Disorders, Pervasive NA CTD_human Detail
<0.001 colitis NA BeFree Detail
<0.001 Mental Depression NA BeFree Detail
<0.001 depressive disorder NA BeFree Detail
0.002 Diabetes Evidence from in vivo and in vitro studies proved a key role of melatonin in the... BeFree 25160745 Detail
0.004 diabetes mellitus Evidence from in vivo and in vitro studies proved a key role of melatonin in the... BeFree,GAD 25160745 Detail
<0.001 Sensorineural Hearing Loss (disorder) NA BeFree Detail
<0.001 Atrial Septal Defects NA BeFree Detail
0.002 HIV Infections NA GAD Detail
<0.001 hyperglycemia NA BeFree Detail
0.007 Insulin resistance NA GAD Detail
<0.001 melanoma NA BeFree Detail
0.124 obesity A common variant in the MTNR1b gene is associated with increased risk of impaire... BeFree,GAD,GWASCAT 25919927 Detail
<0.001 Ovarian Diseases NA BeFree Detail
<0.001 Pain These studies demonstrate that MT2 receptors are involved in the pathophysiology... BeFree 23971978 Detail
0.123 polycystic ovary syndrome NA BeFree,CTD_human,GAD Detail
<0.001 schizophrenia NA BeFree Detail
0.007 Scoliosis, unspecified NA GAD Detail
<0.001 Sleep disturbances These studies demonstrate that MT2 receptors are involved in the pathophysiology... BeFree 23971978 Detail
0.002 gestational diabetes Relationship between melatonin receptor 1B and insulin receptor substrate 1 poly... BeFree 25146448 Detail
<0.001 lingual-facial-buccal dyskinesia NA BeFree Detail
<0.001 uveal melanoma NA BeFree Detail
<0.001 Juvenile hemochromatosis The matriptase (MT)-2 protein (encoded by the TMPRSS6 gene) regulates hepcidin e... BeFree 25588876 Detail
0.003 Impaired glucose tolerance NA BeFree,GAD Detail
<0.001 Maturity onset diabetes mellitus in young NA BeFree Detail
<0.001 3 beta-Hydroxysteroid dehydrogenase deficiency NA BeFree Detail
<0.001 prediabetes syndrome NA BeFree Detail
0.002 Adolescent idiopathic scoliosis Although the MT2 receptor was identified in GPCs from both AIS and controls, its... BeFree 25257530 Detail
<0.001 Overweight NA BeFree Detail
<0.001 Metabolic syndrome X NA BeFree Detail
<0.001 breast carcinoma Associations between seven polymorphisms in circadian genes (CLOCK, NPAS2, ARTNL... BeFree 25229211 Detail
<0.001 Tardive Dyskinesia NA BeFree Detail
<0.001 Carcinoma of bladder NA BeFree Detail
<0.001 Sleep Disorders These studies demonstrate that MT2 receptors are involved in the pathophysiology... BeFree 23971978 Detail
<0.001 Hypersomnia NA BeFree Detail
<0.001 Sleeplessness NA BeFree Detail
<0.001 attention deficit hyperactivity disorder NA BeFree Detail
0.003 Mammary Neoplasms NA BeFree,LHGDN Detail
0.002 gestational diabetes The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... BeFree 23690305 Detail
0.005 rheumatoid arthritis NA GAD,LHGDN Detail
0.002 atherosclerosis NA GAD Detail
0.002 autistic disorder NA GAD Detail
<0.001 Mental disorders The superfamily of GPCRs has proven to be among the most successful drug targets... BeFree 23971978 Detail
<0.001 Malignant neoplasm of urinary bladder NA BeFree Detail
<0.001 Malignant neoplasm of breast Associations between seven polymorphisms in circadian genes (CLOCK, NPAS2, ARTNL... BeFree 25229211 Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Evidence from in vivo and in vitro studies proved a key role of melatonin in the regulation of gluco... DisGeNET Detail
Evidence from in vivo and in vitro studies proved a key role of melatonin in the regulation of gluco... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
A common variant in the MTNR1b gene is associated with increased risk of impaired fasting glucose (I... DisGeNET Detail
NA DisGeNET Detail
These studies demonstrate that MT2 receptors are involved in the pathophysiology and pharmacology of... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
These studies demonstrate that MT2 receptors are involved in the pathophysiology and pharmacology of... DisGeNET Detail
Relationship between melatonin receptor 1B and insulin receptor substrate 1 polymorphisms with gesta... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The matriptase (MT)-2 protein (encoded by the TMPRSS6 gene) regulates hepcidin expression by cleavin... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Although the MT2 receptor was identified in GPCs from both AIS and controls, its mRNA expression was... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Associations between seven polymorphisms in circadian genes (CLOCK, NPAS2, ARTNL, PER2 and CRY2), ge... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
These studies demonstrate that MT2 receptors are involved in the pathophysiology and pharmacology of... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The superfamily of GPCRs has proven to be among the most successful drug targets and, consequently, ... DisGeNET Detail
NA DisGeNET Detail
Associations between seven polymorphisms in circadian genes (CLOCK, NPAS2, ARTNL, PER2 and CRY2), ge... 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
rs386597997 dbSNP
Genome
hg19
Position
chr11:92,702,817-92,715,948
Variant Type
snv
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