chr5:148826910:G>T Detail (hg38) (ADRB2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:148,206,473-148,206,473 View the variant detail on this assembly version. |
| hg38 | chr5:148,826,910-148,826,910 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000024.5:c.79G>T | NP_000015.1:p.Glu27Ter |
| Ensemble | ENST00000305988.6:c.79G>T | ENST00000305988.6:p.Glu27Ter |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.004 | Childhood asthma | Four ADRB2 single nucleotide polymorphisms (rs1042711, rs1042713, rs1042714 and ... | BeFree | 23463918 | Detail |
| 0.013 | Metabolic syndrome X | ADRB2 haplotypes (comprising rs1042711, rs1801704, rs1042713 and rs1042714 in th... | BeFree | 22900502 | Detail |
| 0.203 | Hypertensive disease | Four ADRB2 gene polymorphisms C19R (T-47C), T-20C, G16R (G+46A), Q27E (C+79G) we... | BeFree | 11821707 | Detail |
| 0.269 | asthma | These results suggest that in the group of mestizo schoolchildren studied, the A... | BeFree | 22328447 | Detail |
| 0.002 | Allergic sensitization | The authors analyze the possible implication of 7 genetic polymorphisms describe... | BeFree | 18849614 | Detail |
| 0.239 | Hypertensive disease | We examined the associations of single nucleotide polymorphisms (SNPs) in three ... | BeFree | 19148102 | Detail |
| 0.006 | congestive heart failure | Beta-2 adrenergic receptor gene polymorphisms Gln27Glu, Arg16Gly in patients wit... | BeFree | 19886995 | Detail |
| 0.042 | Chronic Obstructive Airway Disease | We tested the hypothesis that three functional polymorphisms in the ADRB2 gene (... | BeFree | 22075484 | Detail |
| 0.108 | myocardial infarction | The Gln(27)Glu polymorphism but not the Arg(16)Gly polymorphism of the beta2-adr... | BeFree | 20399803 | Detail |
| <0.001 | Aortic Aneurysm, Thoracic | We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome ... | BeFree | 25171434 | Detail |
| 0.013 | Cardiovascular Diseases | The Arg16Gly and the Gln27Glu polymorphisms in the gene for the beta2-adrenergic... | BeFree | 15931235 | Detail |
| <0.001 | intermittent claudication | The Gln(27)Glu polymorphism but not the Arg(16)Gly polymorphism of the beta2-adr... | BeFree | 20399803 | Detail |
| 0.014 | asthma | Recent studies have suggested that two polymorphisms of the beta(2)-adrenergic r... | BeFree | 11371409 | Detail |
| 0.335 | obesity | Several case-control studies have explored the possible association between poly... | BeFree | 15323067 | Detail |
| 0.014 | asthma | Recent studies have suggested that two polymorphisms of the beta(2)-adrenergic r... | BeFree | 11371409 | Detail |
| 0.098 | myocardial infarction | In this study, we aimed to investigate the possible relationship between Ser49Gl... | BeFree | 19623647 | Detail |
| 0.335 | obesity | Our results suggest that the Gln27Glu and Arg16Gly polymorphisms of the beta2AR ... | BeFree | 11016907 | Detail |
| 0.269 | asthma | We tested the hypothesis that three functional polymorphisms in the ADRB2 gene (... | BeFree | 22075484 | Detail |
| 0.016 | coronary artery disease | Our data did not support a relationship between the three polymorphisms of ADRB1... | BeFree | 24342311 | Detail |
| 0.011 | Overweight | We characterized one single nucleotide polymorphism (SNP) in the promoter region... | BeFree | 16251889 | Detail |
| 0.335 | obesity | The present meta-analysis is performed to determine whether there are any associ... | BeFree | 24960039 | Detail |
| 0.203 | Hypertensive disease | Common Arg16Gly and Gln27Glu polymorphisms of the beta(2)-adrenergic receptor (b... | BeFree | 15797659 | Detail |
| 0.269 | asthma | The authors analyze the possible implication of 7 genetic polymorphisms describe... | BeFree | 18849614 | Detail |
| <0.001 | Aortic Aneurysm, Thoracic | We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome ... | BeFree | 25171434 | Detail |
| 0.203 | Hypertensive disease | We examined the associations of single nucleotide polymorphisms (SNPs) in three ... | BeFree | 19148102 | Detail |
| 0.245 | asthma | The authors analyze the possible implication of 7 genetic polymorphisms describe... | BeFree | 18849614 | Detail |
| 0.335 | obesity | Additionally, for the polymorphic sites of BAR-2 (Arg16Gly and Gln27Glu) a signi... | BeFree | 12395215 | Detail |
| <0.001 | Allergic sensitization | The authors analyze the possible implication of 7 genetic polymorphisms describe... | BeFree | 18849614 | Detail |
| 0.003 | Acute coronary syndrome | To evaluate the effect of ADRB1 Arg389Gly (1165 CG), Ser49Gly (145 AG), and ADRB... | BeFree | 16189366 | Detail |
| 0.042 | Chronic Obstructive Airway Disease | Finally, we found that the rare Thr164Ile polymorphism in ADRB2 was associated w... | BeFree | 25186548 | Detail |
| 0.009 | coronary artery disease | Our data did not support a relationship between the three polymorphisms of ADRB1... | BeFree | 24342311 | Detail |
| <0.001 | Allergic sensitization | The authors analyze the possible implication of 7 genetic polymorphisms describe... | BeFree | 18849614 | Detail |
| <0.001 | primary congenital glaucoma | These results suggest no evidence of an association between the Arg16Gly, Glu27G... | BeFree | 13680034 | Detail |
| 0.124 | Heart failure | Beta-2 adrenergic receptor gene polymorphisms Gln27Glu, Arg16Gly in patients wit... | BeFree | 19886995 | Detail |
| 0.343 | obesity | Several common single nucleotide polymorphisms (SNPs) including Gly389Arg in bet... | BeFree | 17611309 | Detail |
| 0.335 | obesity | In summary, we have found that in Japanese men the Gln27Glu beta2AR variant is a... | BeFree | 10222249 | Detail |
| 0.335 | obesity | Several common single nucleotide polymorphisms (SNPs) including Gly389Arg in bet... | BeFree | 17611309 | Detail |
| 0.203 | Hypertensive disease | Therefore, the Gln27Glu polymorphism of the β2 adrenoceptor could be a risk fact... | BeFree | 24782128 | Detail |
| 0.335 | obesity | We evaluated Gln27Glu polymorphism in the β2AR gene in obese Saudi populations t... | BeFree | 20738880 | Detail |
| 0.008 | cerebral palsy | In children without cerebral palsy, preterm birth after spontaneous onset of lab... | BeFree | 17267840 | Detail |
| 0.335 | obesity | The environmental factors and Gln27Glu polymorphism did not influence the nutrit... | BeFree | 25893811 | Detail |
| 0.151 | obesity | Several common single nucleotide polymorphisms (SNPs) including Gly389Arg in bet... | BeFree | 17611309 | Detail |
| <0.001 | Chronic Kidney Diseases | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 19578796 | Detail |
| 0.003 | cerebral palsy | In children without cerebral palsy, preterm birth after spontaneous onset of lab... | BeFree | 17267840 | Detail |
| 0.335 | obesity | Evaluation of the glutamine 27 glutamic acid polymorphism in the adrenoceptor β2... | BeFree | 24322328 | Detail |
| 0.335 | obesity | We conclude that the beta(2)-AR gene (Gln27Glu) variant might not be an importan... | BeFree | 11288039 | Detail |
| 0.003 | Obesity, Morbid | Lack of association between a human beta-2 adrenoceptor gene polymorphism (gln27... | BeFree | 10557032 | Detail |
| 0.026 | Cerebrovascular accident | The findings of the present study suggest that Gln27Glu polymorphism of the ADRB... | BeFree | 24966013 | Detail |
| 0.335 | obesity | These results provide evidence about a possible impact of the Gln27Glu polymorph... | BeFree | 12435085 | Detail |
| 0.001 | Chronic heart failure | We investigated whether a predefined combination of the Arg389Gly polymorphism i... | BeFree | 21395649 | Detail |
| 0.001 | Chronic heart failure | We investigated whether a predefined combination of the Arg389Gly polymorphism i... | BeFree | 21395649 | Detail |
| 0.001 | Chronic Kidney Diseases | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 19578796 | Detail |
| 0.335 | obesity | A case-control study (obese subjects vs. normal weight controls) was conducted t... | BeFree | 12888635 | Detail |
| <0.001 | Impaired glucose tolerance | We conclude that the beta(2)-AR gene (Gln27Glu) variant might not be an importan... | BeFree | 11288039 | Detail |
| <0.001 | Meningitis, Bacterial | We identified a functional polymorphism in ADRB2 (rs1042714) to be associated wi... | BeFree | 22624056 | Detail |
| 0.335 | obesity | NA | CLINVAR | Detail | |
| <0.001 | Ovarian Diseases | The polymorphism in codon 27 (Gln27Glu) of BAR-2 is linked to the expression of ... | BeFree | 16779985 | Detail |
| 0.400 | obesity | The aim of this study was to investigate whether the polymorphisms of the fat ma... | BeFree | 23911093 | Detail |
| 0.026 | Cerebrovascular accident | The aim of this replication study was to confirm our previous findings of associ... | BeFree | 17600229 | Detail |
| 0.335 | obesity | The different effects of a Gln27Glu beta 2-adrenoceptor gene polymorphism on obe... | BeFree | 10205587 | Detail |
| <0.001 | Chronic Kidney Diseases | The Chi-square test, multivariable logistic regression analysis with adjustment ... | BeFree | 19578796 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Four ADRB2 single nucleotide polymorphisms (rs1042711, rs1042713, rs1042714 and rs1800888) were geno... | DisGeNET | Detail |
| ADRB2 haplotypes (comprising rs1042711, rs1801704, rs1042713 and rs1042714 in that order), genotypin... | DisGeNET | Detail |
| Four ADRB2 gene polymorphisms C19R (T-47C), T-20C, G16R (G+46A), Q27E (C+79G) were investigated in t... | DisGeNET | Detail |
| These results suggest that in the group of mestizo schoolchildren studied, the Arg16Gly and Gln27Glu... | DisGeNET | Detail |
| The authors analyze the possible implication of 7 genetic polymorphisms described as asthma suscepti... | DisGeNET | Detail |
| We examined the associations of single nucleotide polymorphisms (SNPs) in three candidate hypertensi... | DisGeNET | Detail |
| Beta-2 adrenergic receptor gene polymorphisms Gln27Glu, Arg16Gly in patients with heart failure. | DisGeNET | Detail |
| We tested the hypothesis that three functional polymorphisms in the ADRB2 gene (Thr164Ile, Gly16Arg ... | DisGeNET | Detail |
| The Gln(27)Glu polymorphism but not the Arg(16)Gly polymorphism of the beta2-adrenergic receptor (AD... | DisGeNET | Detail |
| We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709,... | DisGeNET | Detail |
| The Arg16Gly and the Gln27Glu polymorphisms in the gene for the beta2-adrenergic receptor (beta2AR) ... | DisGeNET | Detail |
| The Gln(27)Glu polymorphism but not the Arg(16)Gly polymorphism of the beta2-adrenergic receptor (AD... | DisGeNET | Detail |
| Recent studies have suggested that two polymorphisms of the beta(2)-adrenergic receptor (beta(2)AR) ... | DisGeNET | Detail |
| Several case-control studies have explored the possible association between polymorphism in the beta... | DisGeNET | Detail |
| Recent studies have suggested that two polymorphisms of the beta(2)-adrenergic receptor (beta(2)AR) ... | DisGeNET | Detail |
| In this study, we aimed to investigate the possible relationship between Ser49Gly and Arg389Gly poly... | DisGeNET | Detail |
| Our results suggest that the Gln27Glu and Arg16Gly polymorphisms of the beta2AR gene are not a major... | DisGeNET | Detail |
| We tested the hypothesis that three functional polymorphisms in the ADRB2 gene (Thr164Ile, Gly16Arg ... | DisGeNET | Detail |
| Our data did not support a relationship between the three polymorphisms of ADRB1 (rs1801253) and ADR... | DisGeNET | Detail |
| We characterized one single nucleotide polymorphism (SNP) in the promoter region (5'LC-Cys19Arg) and... | DisGeNET | Detail |
| The present meta-analysis is performed to determine whether there are any associations between the G... | DisGeNET | Detail |
| Common Arg16Gly and Gln27Glu polymorphisms of the beta(2)-adrenergic receptor (beta(2)AR) have been ... | DisGeNET | Detail |
| The authors analyze the possible implication of 7 genetic polymorphisms described as asthma suscepti... | DisGeNET | Detail |
| We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709,... | DisGeNET | Detail |
| We examined the associations of single nucleotide polymorphisms (SNPs) in three candidate hypertensi... | DisGeNET | Detail |
| The authors analyze the possible implication of 7 genetic polymorphisms described as asthma suscepti... | DisGeNET | Detail |
| Additionally, for the polymorphic sites of BAR-2 (Arg16Gly and Gln27Glu) a significant effect on obe... | DisGeNET | Detail |
| The authors analyze the possible implication of 7 genetic polymorphisms described as asthma suscepti... | DisGeNET | Detail |
| To evaluate the effect of ADRB1 Arg389Gly (1165 CG), Ser49Gly (145 AG), and ADRB2 Gly16Arg (46 GA), ... | DisGeNET | Detail |
| Finally, we found that the rare Thr164Ile polymorphism in ADRB2 was associated with reduced lung fun... | DisGeNET | Detail |
| Our data did not support a relationship between the three polymorphisms of ADRB1 (rs1801253) and ADR... | DisGeNET | Detail |
| The authors analyze the possible implication of 7 genetic polymorphisms described as asthma suscepti... | DisGeNET | Detail |
| These results suggest no evidence of an association between the Arg16Gly, Glu27Gln and Thr164Ile pol... | DisGeNET | Detail |
| Beta-2 adrenergic receptor gene polymorphisms Gln27Glu, Arg16Gly in patients with heart failure. | DisGeNET | Detail |
| Several common single nucleotide polymorphisms (SNPs) including Gly389Arg in beta(1)-AR, Gln27Glu in... | DisGeNET | Detail |
| In summary, we have found that in Japanese men the Gln27Glu beta2AR variant is associated with obesi... | DisGeNET | Detail |
| Several common single nucleotide polymorphisms (SNPs) including Gly389Arg in beta(1)-AR, Gln27Glu in... | DisGeNET | Detail |
| Therefore, the Gln27Glu polymorphism of the β2 adrenoceptor could be a risk factor associated with h... | DisGeNET | Detail |
| We evaluated Gln27Glu polymorphism in the β2AR gene in obese Saudi populations to investigate the as... | DisGeNET | Detail |
| In children without cerebral palsy, preterm birth after spontaneous onset of labor was more frequent... | DisGeNET | Detail |
| The environmental factors and Gln27Glu polymorphism did not influence the nutritional status and EE ... | DisGeNET | Detail |
| Several common single nucleotide polymorphisms (SNPs) including Gly389Arg in beta(1)-AR, Gln27Glu in... | DisGeNET | Detail |
| The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, and ... | DisGeNET | Detail |
| In children without cerebral palsy, preterm birth after spontaneous onset of labor was more frequent... | DisGeNET | Detail |
| Evaluation of the glutamine 27 glutamic acid polymorphism in the adrenoceptor β2 surface gene on obe... | DisGeNET | Detail |
| We conclude that the beta(2)-AR gene (Gln27Glu) variant might not be an important factor for obesity... | DisGeNET | Detail |
| Lack of association between a human beta-2 adrenoceptor gene polymorphism (gln27glu) and morbid obes... | DisGeNET | Detail |
| The findings of the present study suggest that Gln27Glu polymorphism of the ADRB2 gene may confer hi... | DisGeNET | Detail |
| These results provide evidence about a possible impact of the Gln27Glu polymorphism in the ADRB2 gen... | DisGeNET | Detail |
| We investigated whether a predefined combination of the Arg389Gly polymorphism in the adrenergic β(1... | DisGeNET | Detail |
| We investigated whether a predefined combination of the Arg389Gly polymorphism in the adrenergic β(1... | DisGeNET | Detail |
| The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, and ... | DisGeNET | Detail |
| A case-control study (obese subjects vs. normal weight controls) was conducted to assess a possible ... | DisGeNET | Detail |
| We conclude that the beta(2)-AR gene (Gln27Glu) variant might not be an important factor for obesity... | DisGeNET | Detail |
| We identified a functional polymorphism in ADRB2 (rs1042714) to be associated with an increased risk... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The polymorphism in codon 27 (Gln27Glu) of BAR-2 is linked to the expression of PCOS in Japanese wom... | DisGeNET | Detail |
| The aim of this study was to investigate whether the polymorphisms of the fat mass and obesity-assoc... | DisGeNET | Detail |
| The aim of this replication study was to confirm our previous findings of associations between the T... | DisGeNET | Detail |
| The different effects of a Gln27Glu beta 2-adrenoceptor gene polymorphism on obesity in males and in... | DisGeNET | Detail |
| The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, and ... | 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
- rs1042714 dbSNP
- Genome
- hg38
- Position
- chr5:148,826,910-148,826,910
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
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