chr10:115805056:G>C Detail (hg19) (ADRB1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:115,805,056-115,805,056 |
| hg38 | chr10:114,045,297-114,045,297 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000684.2:c.1165G>C | NP_000675.1:p.Gly389Arg |
| Ensemble | ENST00000369295.4:c.1165G>C | ENST00000369295.4:p.Gly389Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.797 |
| ToMMo:0.807 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.754 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
drug response
|
2007-04-01 | no assertion criteria provided | RECLASSIFIED - ADRA2C POLYMORPHISM |
germline
|
Detail |
association
|
2022-07-05 | no assertion criteria provided | Pulmonary disease, chronic obstructive, susceptibility to |
germline
|
Detail |
|
Benign
|
2019-10-17 | criteria provided, single submitter | ADRB1-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.098 | myocardial infarction | In this study, we aimed to investigate the possible relationship between Ser49Gl... | BeFree | 19623647 | Detail |
| 0.016 | coronary artery disease | Our data did not support a relationship between the three polymorphisms of ADRB1... | BeFree | 24342311 | Detail |
| 0.003 | Acute coronary syndrome | To evaluate the effect of ADRB1 Arg389Gly (1165 CG), Ser49Gly (145 AG), and ADRB... | BeFree | 16189366 | Detail |
| 0.009 | coronary artery disease | Our data did not support a relationship between the three polymorphisms of ADRB1... | BeFree | 24342311 | Detail |
| 0.343 | obesity | Several common single nucleotide polymorphisms (SNPs) including Gly389Arg in bet... | BeFree | 17611309 | Detail |
| 0.335 | obesity | Several common single nucleotide polymorphisms (SNPs) including Gly389Arg in bet... | BeFree | 17611309 | Detail |
| 0.151 | obesity | Several common single nucleotide polymorphisms (SNPs) including Gly389Arg in bet... | BeFree | 17611309 | 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 |
| 0.009 | coronary artery disease | Ser49Gly and haplotype combinations of Ser49Gly and Gly389Arg of the beta(1)AR g... | BeFree | 16421173 | Detail |
| 0.248 | Heart failure | We tested the hypothesis that polymorphisms at codons 389 (Arg389Gly) and 49 (Se... | BeFree | 15735607 | Detail |
| 0.138 | Cardiovascular Diseases | The human beta(1)-adrenergic receptor, an important therapeutic target in cardio... | BeFree | 16815314 | Detail |
| 0.003 | essential hypertension | Genetic variants of beta(1)-adrenoceptor gene polymorphisms (Ser49Gly and Arg389... | BeFree | 19673943 | Detail |
| 0.226 | Cardiomyopathy, Dilated | Genotyping at 3 loci (ADRB1 Ser49Gly and Arg389Gly, and NET T-182C) was performe... | BeFree | 22664639 | Detail |
| 0.270 | Hypertensive disease | The β1-adrenoreceptor gene Arg389Gly and Ser49Gly polymorphisms and hypertension... | BeFree | 23271137 | Detail |
| <0.001 | Social fear | A sample of 504 undergraduate college students were phenotyped on a personality ... | BeFree | 15312808 | Detail |
| <0.001 | Cardiomyopathy, Dilated | Genotyping at 3 loci (ADRB1 Ser49Gly and Arg389Gly, and NET T-182C) was performe... | BeFree | 22664639 | Detail |
| 0.138 | Cardiovascular Diseases | Various studies suggest an association between beta(1)-adrenoceptor gene polymor... | BeFree | 19673943 | Detail |
| 0.013 | congestive heart failure | We tested the hypothesis that polymorphisms at codons 389 (Arg389Gly) and 49 (Se... | BeFree | 15735607 | Detail |
| 0.013 | congestive heart failure | Various studies suggest an association between beta(1)-adrenoceptor gene polymor... | BeFree | 19673943 | Detail |
| 0.226 | Cardiomyopathy, Dilated | In vitro, the Gly389 variant of beta1-AR mediates less adenylyl cyclase activiti... | BeFree | 12197595 | Detail |
| 0.029 | Metabolic syndrome X | The objective of this work was to analyze the association of polymorphisms in AD... | BeFree | 24972470 | Detail |
| 0.003 | essential hypertension | β1-adrenoceptor gene Arg389Gly polymorphism and essential hypertension risk in g... | BeFree | 23588958 | Detail |
| <0.001 | acute myocardial infarction | Our findings suggest that the genotype of Arg389Gly polymorphism in the human AD... | BeFree | 12851615 | Detail |
| 0.270 | Hypertensive disease | The Arg389Gly polymorphism of the ADRB1 gene confers higher risk for hypertensio... | BeFree | 19743955 | Detail |
| 0.003 | coronary artery disease | The ADRA2A C-1291G and ADRB1 C1165G polymorphisms were not found to be a risk fo... | BeFree | 24201118 | Detail |
| 0.248 | Heart failure | The present study sought to investigate whether ADRB1 Arg389Gly (rs1801253), GNA... | BeFree | 23065660 | Detail |
| 0.002 | Vasovagal syncope | [Genetic study of the vasovagal syncope associated to the Arg389Gly polymorphism... | GAD | 18754404 | Detail |
| <0.001 | Metabolic syndrome X | The objective of this work was to analyze the association of polymorphisms in AD... | BeFree | 24972470 | Detail |
| 0.248 | Heart failure | One study of risk for heart failure suggested a synergistic effect of ADRB1 Arg3... | BeFree | 17496726 | Detail |
| 0.013 | congestive heart failure | Impact of the β1-adrenoceptor Arg389Gly polymorphism on heart-rate responses to ... | BeFree | 22617224 | Detail |
| 0.270 | Hypertensive disease | We attempted replication of the top meta-analysis single nucleotide polymorphism... | BeFree | 21444836 | Detail |
| 0.079 | Diabetes Mellitus, Non-Insulin-Dependent | The ADRB3 Trp64Arg variant is a susceptibility gene polymorphism for T2D and the... | BeFree | 24972470 | Detail |
| <0.001 | Mood Disorders | A recently identified functional polymorphism in the beta(1)-adrenergic receptor... | BeFree | 12815745 | Detail |
| 0.270 | Hypertensive disease | Studies of associations between the Arg389Gly polymorphism of the beta1-adrenerg... | BeFree | 17335470 | Detail |
| <0.001 | Diabetes Mellitus, Non-Insulin-Dependent | The ADRB3 Trp64Arg variant is a susceptibility gene polymorphism for T2D and the... | BeFree | 24972470 | Detail |
| 0.003 | low tension glaucoma | The Arg389Gly polymorphism in the ADRB1 gene showed significantly different alle... | BeFree | 16785856 | Detail |
| 0.013 | congestive heart failure | The present study sought to investigate whether ADRB1 Arg389Gly (rs1801253), GNA... | BeFree | 23065660 | Detail |
| 0.013 | congestive heart failure | One study of risk for heart failure suggested a synergistic effect of ADRB1 Arg3... | BeFree | 17496726 | Detail |
| 0.009 | coronary artery disease | The ADRA2A C-1291G and ADRB1 C1165G polymorphisms were not found to be a risk fo... | BeFree | 24201118 | Detail |
| 0.248 | Heart failure | An evaluation of the beta-1 adrenergic receptor Arg389Gly polymorphism in indivi... | BeFree | 12921807 | Detail |
| <0.001 | Mood Disorders | A recently identified functional polymorphism in the beta(1)-adrenergic receptor... | BeFree | 12815745 | Detail |
| <0.001 | Mood Disorders | A recently identified functional polymorphism in the beta(1)-adrenergic receptor... | BeFree | 12815745 | Detail |
| 0.138 | Cardiovascular Diseases | The Arg389Gly polymorphism of the ADRB1 gene may be a worthy biological marker t... | BeFree | 24371822 | Detail |
| 0.248 | Heart failure | Impact of the β1-adrenoceptor Arg389Gly polymorphism on heart-rate responses to ... | BeFree | 22617224 | Detail |
| 0.001 | Chronic heart failure | We examined whether the Arg389Gly polymorphism in ADRβ1 interacts with the dose ... | BeFree | 23115322 | Detail |
| 0.151 | obesity | Association between obesity and a polymorphism in the beta(1)-adrenoceptor gene ... | BeFree | 12032746 | Detail |
| 0.151 | obesity | Studies of associations between the Arg389Gly polymorphism of the beta1-adrenerg... | BeFree | 17335470 | Detail |
| 0.013 | congestive heart failure | An evaluation of the beta-1 adrenergic receptor Arg389Gly polymorphism in indivi... | BeFree | 12921807 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000684.3(ADRB1):c.1165G>C (p.Gly389Arg) AND RECLASSIFIED - ADRA2C POLYMORPHISM | ClinVar | Detail |
| NM_000684.3(ADRB1):c.1165G>C (p.Gly389Arg) AND Pulmonary disease, chronic obstructive, susceptibilit... | ClinVar | Detail |
| NM_000684.3(ADRB1):c.1165G>C (p.Gly389Arg) AND ADRB1-related disorder | ClinVar | Detail |
| In this study, we aimed to investigate the possible relationship between Ser49Gly and Arg389Gly poly... | DisGeNET | Detail |
| Our data did not support a relationship between the three polymorphisms of ADRB1 (rs1801253) and ADR... | DisGeNET | Detail |
| To evaluate the effect of ADRB1 Arg389Gly (1165 CG), Ser49Gly (145 AG), and ADRB2 Gly16Arg (46 GA), ... | DisGeNET | Detail |
| Our data did not support a relationship between the three polymorphisms of ADRB1 (rs1801253) and ADR... | DisGeNET | Detail |
| Several common single nucleotide polymorphisms (SNPs) including Gly389Arg in beta(1)-AR, Gln27Glu in... | DisGeNET | Detail |
| Several common single nucleotide polymorphisms (SNPs) including Gly389Arg in beta(1)-AR, Gln27Glu in... | DisGeNET | Detail |
| Several common single nucleotide polymorphisms (SNPs) including Gly389Arg in beta(1)-AR, Gln27Glu in... | 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 |
| Ser49Gly and haplotype combinations of Ser49Gly and Gly389Arg of the beta(1)AR gene are associated w... | DisGeNET | Detail |
| We tested the hypothesis that polymorphisms at codons 389 (Arg389Gly) and 49 (Ser49Gly) of the beta(... | DisGeNET | Detail |
| The human beta(1)-adrenergic receptor, an important therapeutic target in cardiovascular diseases, h... | DisGeNET | Detail |
| Genetic variants of beta(1)-adrenoceptor gene polymorphisms (Ser49Gly and Arg389Gly) and essential h... | DisGeNET | Detail |
| Genotyping at 3 loci (ADRB1 Ser49Gly and Arg389Gly, and NET T-182C) was performed in 83 patients wit... | DisGeNET | Detail |
| The β1-adrenoreceptor gene Arg389Gly and Ser49Gly polymorphisms and hypertension: a meta-analysis. | DisGeNET | Detail |
| A sample of 504 undergraduate college students were phenotyped on a personality inventory (the NEO-P... | DisGeNET | Detail |
| Genotyping at 3 loci (ADRB1 Ser49Gly and Arg389Gly, and NET T-182C) was performed in 83 patients wit... | DisGeNET | Detail |
| Various studies suggest an association between beta(1)-adrenoceptor gene polymorphisms (Ser49Gly and... | DisGeNET | Detail |
| We tested the hypothesis that polymorphisms at codons 389 (Arg389Gly) and 49 (Ser49Gly) of the beta(... | DisGeNET | Detail |
| Various studies suggest an association between beta(1)-adrenoceptor gene polymorphisms (Ser49Gly and... | DisGeNET | Detail |
| In vitro, the Gly389 variant of beta1-AR mediates less adenylyl cyclase activities than the Arg389 v... | DisGeNET | Detail |
| The objective of this work was to analyze the association of polymorphisms in ADRB1 (rs1801253) (Arg... | DisGeNET | Detail |
| β1-adrenoceptor gene Arg389Gly polymorphism and essential hypertension risk in general population: a... | DisGeNET | Detail |
| Our findings suggest that the genotype of Arg389Gly polymorphism in the human ADRB1 gene is associat... | DisGeNET | Detail |
| The Arg389Gly polymorphism of the ADRB1 gene confers higher risk for hypertension. | DisGeNET | Detail |
| The ADRA2A C-1291G and ADRB1 C1165G polymorphisms were not found to be a risk for CAD when compared ... | DisGeNET | Detail |
| The present study sought to investigate whether ADRB1 Arg389Gly (rs1801253), GNAS -1211 G/A (rs61238... | DisGeNET | Detail |
| [Genetic study of the vasovagal syncope associated to the Arg389Gly polymorphism of the beta1 adrene... | DisGeNET | Detail |
| The objective of this work was to analyze the association of polymorphisms in ADRB1 (rs1801253) (Arg... | DisGeNET | Detail |
| One study of risk for heart failure suggested a synergistic effect of ADRB1 Arg389Gly with the inser... | DisGeNET | Detail |
| Impact of the β1-adrenoceptor Arg389Gly polymorphism on heart-rate responses to bisoprolol and carve... | DisGeNET | Detail |
| We attempted replication of the top meta-analysis single nucleotide polymorphisms for these genes in... | DisGeNET | Detail |
| The ADRB3 Trp64Arg variant is a susceptibility gene polymorphism for T2D and the ADRB1 Gly389Arg for... | DisGeNET | Detail |
| A recently identified functional polymorphism in the beta(1)-adrenergic receptor (G1165C) leading to... | DisGeNET | Detail |
| Studies of associations between the Arg389Gly polymorphism of the beta1-adrenergic receptor gene (AD... | DisGeNET | Detail |
| The ADRB3 Trp64Arg variant is a susceptibility gene polymorphism for T2D and the ADRB1 Gly389Arg for... | DisGeNET | Detail |
| The Arg389Gly polymorphism in the ADRB1 gene showed significantly different allele and genotype freq... | DisGeNET | Detail |
| The present study sought to investigate whether ADRB1 Arg389Gly (rs1801253), GNAS -1211 G/A (rs61238... | DisGeNET | Detail |
| One study of risk for heart failure suggested a synergistic effect of ADRB1 Arg389Gly with the inser... | DisGeNET | Detail |
| The ADRA2A C-1291G and ADRB1 C1165G polymorphisms were not found to be a risk for CAD when compared ... | DisGeNET | Detail |
| An evaluation of the beta-1 adrenergic receptor Arg389Gly polymorphism in individuals with heart fai... | DisGeNET | Detail |
| A recently identified functional polymorphism in the beta(1)-adrenergic receptor (G1165C) leading to... | DisGeNET | Detail |
| A recently identified functional polymorphism in the beta(1)-adrenergic receptor (G1165C) leading to... | DisGeNET | Detail |
| The Arg389Gly polymorphism of the ADRB1 gene may be a worthy biological marker to predict the risk o... | DisGeNET | Detail |
| Impact of the β1-adrenoceptor Arg389Gly polymorphism on heart-rate responses to bisoprolol and carve... | DisGeNET | Detail |
| We examined whether the Arg389Gly polymorphism in ADRβ1 interacts with the dose requirements of beta... | DisGeNET | Detail |
| Association between obesity and a polymorphism in the beta(1)-adrenoceptor gene (Gly389Arg ADRB1) in... | DisGeNET | Detail |
| Studies of associations between the Arg389Gly polymorphism of the beta1-adrenergic receptor gene (AD... | DisGeNET | Detail |
| An evaluation of the beta-1 adrenergic receptor Arg389Gly polymorphism in individuals with heart fai... | 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
- rs1801253 dbSNP
- Genome
- hg19
- Position
- chr10:115,805,056-115,805,056
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1197
- Mean of sample read depth (HGVD)
- 121.09
- Standard deviation of sample read depth (HGVD)
- 59.85
- Number of reference allele (HGVD)
- 486
- Number of alternative allele (HGVD)
- 1905
- Allele Frequency (HGVD)
- 0.7967377666248432
- Gene Symbol (HGVD)
- ADRB1
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs1801253
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8068
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 13514
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16750
- East Asian Chromosome Counts (ExAC)
- 8308
- East Asian Allele Counts (ExAC)
- 6262
- East Asian Heterozygous Counts (ExAC)
- 1540
- East Asian Homozygous Counts (ExAC)
- 2361
- East Asian Allele Frequency (ExAC)
- 0.753731343283582
- Chromosome Counts in All Race (ExAC)
- 112236
- Allele Counts in All Race (ExAC)
- 82606
- Heterozygous Counts in All Race (ExAC)
- 21528
- Homozygous Counts in All Race (ExAC)
- 30539
- Allele Frequency in All Race (ExAC)
- 0.7360027085783527
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