chr10:114044277:A>G Detail (hg38) (ADRB1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:115,804,036-115,804,036 View the variant detail on this assembly version. |
| hg38 | chr10:114,044,277-114,044,277 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000684.2:c.145A>G | NP_000675.1:p.Ser49Gly |
| Ensemble | ENST00000369295.4:c.145A>G | ENST00000369295.4:p.Ser49Gly |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.113 |
| ToMMo:0.146 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.296 |
Prediction
ClinVar
| Clinical Significance |
Benign
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
association
|
2015-05-18 | no assertion criteria provided | Resting heart rate |
germline
|
Detail |
|
Likely benign
|
2018-03-09 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Benign
|
2019-10-28 | 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 |
| 0.003 | 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 | 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 |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000684.3(ADRB1):c.145A>G (p.Ser49Gly) AND Resting heart rate | ClinVar | Detail |
| NM_000684.3(ADRB1):c.145A>G (p.Ser49Gly) AND not specified | ClinVar | Detail |
| NM_000684.3(ADRB1):c.145A>G (p.Ser49Gly) AND ADRB1-related disorder | ClinVar | Detail |
| In this study, we aimed to investigate the possible relationship between Ser49Gly and Arg389Gly poly... | DisGeNET | Detail |
| To evaluate the effect of ADRB1 Arg389Gly (1165 CG), Ser49Gly (145 AG), and ADRB2 Gly16Arg (46 GA), ... | 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 |
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
- rs1801252 dbSNP
- Genome
- hg38
- Position
- chr10:114,044,277-114,044,277
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1068
- Mean of sample read depth (HGVD)
- 46.68
- Standard deviation of sample read depth (HGVD)
- 19.81
- Number of reference allele (HGVD)
- 1894
- Number of alternative allele (HGVD)
- 242
- Allele Frequency (HGVD)
- 0.11329588014981273
- 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))
- rs1801252
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1458
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2442
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16752
- East Asian Chromosome Counts (ExAC)
- 2928
- East Asian Allele Counts (ExAC)
- 868
- East Asian Heterozygous Counts (ExAC)
- 768
- East Asian Homozygous Counts (ExAC)
- 50
- East Asian Allele Frequency (ExAC)
- 0.296448087431694
- Chromosome Counts in All Race (ExAC)
- 43402
- Allele Counts in All Race (ExAC)
- 13194
- Heterozygous Counts in All Race (ExAC)
- 11044
- Homozygous Counts in All Race (ExAC)
- 1075
- Allele Frequency in All Race (ExAC)
- 0.3039952075941201
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