chr5:148206440:G>A Detail (hg19) (ADRB2, LOC129994952)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:148,206,440-148,206,440 |
| hg38 | chr5:148,826,877-148,826,877 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000024.5:c.46G>A | NP_000015.1:p.Gly16Arg |
| Ensemble | ENST00000305988.6:c.46G>A | ENST00000305988.6:p.Gly16Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.494 |
| ToMMo:0.498 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.548 |
Prediction
ClinVar
| Clinical Significance |
drug response
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
drug response
|
2021-03-24 | reviewed by expert panel |
germline
|
Detail |
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 |
| <0.001 | Mild persistent asthma | The effects of a Gly16Arg ADRB2 polymorphism on responses to salmeterol or monte... | BeFree | 24681963 | Detail |
| 0.003 | arteriosclerosis | ADRB2 Arg16Gly polymorphism, lung function, and mortality: results from the Athe... | BeFree | 17356698 | 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 |
| 0.335 | obesity | Proposed test statistics are applied to NHANES III data to test for associations... | BeFree | 19745160 | Detail |
| 0.006 | congestive heart failure | The Arg16Gly-β(2)-adrenoceptor single nucleotide polymorphism: exercise capacity... | BeFree | 20803192 | Detail |
| 0.269 | asthma | We were the first to analyze Arg16Gly ADRB2 gene polymorphism in Japanese patien... | BeFree | 21829036 | Detail |
| 0.011 | Overweight | Together, our findings suggest evidence for a two-locus interaction between the ... | BeFree | 21233811 | Detail |
| 0.002 | Hypotension Adverse Event | [ ADRB2 genptype affects ephedrine dose neede to prevent hypotension after spina... | GAD | 16571957 | Detail |
| 0.005 | interstitial cystitis | We examined the relationship between the Arg16Gly polymorphism of beta2-adrenoce... | BeFree | 16971769 | Detail |
| 0.006 | congestive heart failure | Beta-2 adrenergic receptor gene polymorphisms Gln27Glu, Arg16Gly in patients wit... | BeFree | 19886995 | Detail |
| 0.001 | Stress, Psychological | Subjects who were homozygous both GG in the G-261A polymorphism at the alpha(2A)... | BeFree | 11467765 | Detail |
| 0.269 | asthma | To compare the effectiveness and safety of tiotropium vs LABAs, when used with i... | BeFree | 26505596 | Detail |
| 0.042 | Chronic Obstructive Airway Disease | We tested the hypothesis that three functional polymorphisms in the ADRB2 gene (... | BeFree | 22075484 | Detail |
| 0.018 | asthma | Proposed test statistics are applied to NHANES III data to test for associations... | BeFree | 19745160 | Detail |
| 0.004 | essential hypertension | This study examined whether the therapeutic efficacy of benazepril on essential ... | BeFree | 15554460 | Detail |
| 0.124 | Heart failure | The Arg16Gly-β(2)-adrenoceptor single nucleotide polymorphism: exercise capacity... | BeFree | 20803192 | Detail |
| 0.269 | asthma | Early studies suggest that bronchodilator reversibility and asthma worsening in ... | BeFree | 19077707 | Detail |
| <0.001 | major depressive disorder | Using the dexamethasone/corticotrophin-releasing hormone (DEX/CRH) test, we inve... | BeFree | 19088492 | Detail |
| 0.108 | myocardial infarction | The Gln(27)Glu polymorphism but not the Arg(16)Gly polymorphism of the beta2-adr... | BeFree | 20399803 | Detail |
| 0.335 | obesity | Together, our findings suggest evidence for a two-locus interaction between the ... | BeFree | 21233811 | Detail |
| 0.269 | asthma | Additive role of tiotropium in severe asthmatics and Arg16Gly in ADRB2 as a pote... | BeFree | 19183167 | Detail |
| <0.001 | Aortic Aneurysm, Thoracic | We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome ... | BeFree | 25171434 | Detail |
| 0.347 | Hypertensive disease | We revealed that a combination of the Arg16Gly and Glu298Asp polymorphisms in AD... | BeFree | 19373110 | Detail |
| 0.007 | asthma | The MS4A2 C-109T T/T and ADRB2 R16G A/A genotypes were associated with asthma in... | BeFree | 24838642 | Detail |
| 0.013 | Cardiovascular Diseases | The Arg16Gly and the Gln27Glu polymorphisms in the gene for the beta2-adrenergic... | BeFree | 15931235 | Detail |
| 0.055 | asthma | The MS4A2 C-109T T/T and ADRB2 R16G A/A genotypes were associated with asthma in... | BeFree | 24838642 | 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 |
| 0.037 | Diabetes Mellitus, Non-Insulin-Dependent | The purpose of the present study was to evaluate the influence of the Arg16Gly v... | BeFree | 14693408 | Detail |
| 0.335 | obesity | Arg16Gly polymorphism of ADRB2 was significantly associated with obesity in fema... | BeFree | 22115535 | Detail |
| <0.001 | Unipolar Depression | Using the dexamethasone/corticotrophin-releasing hormone (DEX/CRH) test, we inve... | BeFree | 19088492 | Detail |
| 0.124 | Overweight | Together, our findings suggest evidence for a two-locus interaction between the ... | BeFree | 21233811 | Detail |
| 0.440 | obesity | Seven variants displaying conflicting results in previous reports and supposedly... | BeFree | 21233811 | 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 |
| 0.203 | Hypertensive disease | We revealed that a combination of the Arg16Gly and Glu298Asp polymorphisms in AD... | BeFree | 19373110 | Detail |
| 0.008 | atherosclerosis | ADRB2 Arg16Gly polymorphism, lung function, and mortality: results from the Athe... | BeFree | 17356698 | Detail |
| 0.269 | asthma | The MS4A2 C-109T T/T and ADRB2 R16G A/A genotypes were associated with asthma in... | BeFree | 24838642 | Detail |
| 0.291 | asthma | Proposed test statistics are applied to NHANES III data to test for associations... | BeFree | 19745160 | Detail |
| 0.374 | Diabetes Mellitus, Non-Insulin-Dependent | The purpose of the present study was to evaluate the influence of the Arg16Gly v... | BeFree | 14693408 | Detail |
| 0.335 | obesity | CART analysis showed that smoking parents who overate and carried the Arg allele... | BeFree | 22094842 | 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 |
| <0.001 | Stress, Psychological | Subjects who were homozygous both GG in the G-261A polymorphism at the alpha(2A)... | BeFree | 11467765 | Detail |
| 0.042 | Chronic Obstructive Airway Disease | The SERPINA1 p.V213A polymorphism was found associated with DB risk while the AD... | BeFree | 19747908 | Detail |
| 0.011 | Overweight | We characterized one single nucleotide polymorphism (SNP) in the promoter region... | BeFree | 16251889 | Detail |
| 0.003 | Kidney Failure, Chronic | We extended our findings to an independent case/control sample of Black hyperten... | BeFree | 20484896 | 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 |
| 0.090 | obesity | Proposed test statistics are applied to NHANES III data to test for associations... | BeFree | 19745160 | Detail |
| <0.001 | kidney failure | We extended our findings to an independent case/control sample of Black hyperten... | BeFree | 20484896 | Detail |
| 0.203 | Hypertensive disease | We examined the associations of single nucleotide polymorphisms (SNPs) in three ... | BeFree | 19148102 | Detail |
| 0.439 | obesity | Seven variants displaying conflicting results in previous reports and supposedly... | BeFree | 21233811 | 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 |
| 0.269 | asthma | Proposed test statistics are applied to NHANES III data to test for associations... | BeFree | 19745160 | 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 |
| 0.147 | obesity | Seven variants displaying conflicting results in previous reports and supposedly... | BeFree | 21233811 | Detail |
| <0.001 | Allergic sensitization | The authors analyze the possible implication of 7 genetic polymorphisms describe... | BeFree | 18849614 | Detail |
| 0.179 | Chronic Obstructive Airway Disease | The SERPINA1 p.V213A polymorphism was found associated with DB risk while the AD... | BeFree | 19747908 | Detail |
| 0.034 | obesity | Seven variants displaying conflicting results in previous reports and supposedly... | BeFree | 21233811 | Detail |
| <0.001 | primary congenital glaucoma | These results suggest no evidence of an association between the Arg16Gly, Glu27G... | BeFree | 13680034 | Detail |
| <0.001 | Atopic IgE-mediated allergic disorder | In conclusion, a five-locus interaction exists among IL4 -590C>T, FCER1B E237... | BeFree | 25876437 | Detail |
| 0.124 | Heart failure | Beta-2 adrenergic receptor gene polymorphisms Gln27Glu, Arg16Gly in patients wit... | BeFree | 19886995 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000024.6(ADRB2):c.46G>A (p.Gly16Arg) AND salmeterol response - Efficacy | ClinVar | Detail |
| 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 |
| The effects of a Gly16Arg ADRB2 polymorphism on responses to salmeterol or montelukast in Japanese p... | DisGeNET | Detail |
| ADRB2 Arg16Gly polymorphism, lung function, and mortality: results from the Atherosclerosis Risk in ... | 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 |
| Proposed test statistics are applied to NHANES III data to test for associations between the locus A... | DisGeNET | Detail |
| The Arg16Gly-β(2)-adrenoceptor single nucleotide polymorphism: exercise capacity and survival in pat... | DisGeNET | Detail |
| We were the first to analyze Arg16Gly ADRB2 gene polymorphism in Japanese patients with AERD, and sh... | DisGeNET | Detail |
| Together, our findings suggest evidence for a two-locus interaction between the LEPR Gln223Arg and A... | DisGeNET | Detail |
| [ ADRB2 genptype affects ephedrine dose neede to prevent hypotension after spinal anesthesia] | DisGeNET | Detail |
| We examined the relationship between the Arg16Gly polymorphism of beta2-adrenoceptor (ADRB2) and the... | DisGeNET | Detail |
| Beta-2 adrenergic receptor gene polymorphisms Gln27Glu, Arg16Gly in patients with heart failure. | DisGeNET | Detail |
| Subjects who were homozygous both GG in the G-261A polymorphism at the alpha(2A)AR locus and GlyGly ... | DisGeNET | Detail |
| To compare the effectiveness and safety of tiotropium vs LABAs, when used with inhaled corticosteroi... | DisGeNET | Detail |
| We tested the hypothesis that three functional polymorphisms in the ADRB2 gene (Thr164Ile, Gly16Arg ... | DisGeNET | Detail |
| Proposed test statistics are applied to NHANES III data to test for associations between the locus A... | DisGeNET | Detail |
| This study examined whether the therapeutic efficacy of benazepril on essential hypertension is modi... | DisGeNET | Detail |
| The Arg16Gly-β(2)-adrenoceptor single nucleotide polymorphism: exercise capacity and survival in pat... | DisGeNET | Detail |
| Early studies suggest that bronchodilator reversibility and asthma worsening in patients on continuo... | DisGeNET | Detail |
| Using the dexamethasone/corticotrophin-releasing hormone (DEX/CRH) test, we investigated the associa... | DisGeNET | Detail |
| The Gln(27)Glu polymorphism but not the Arg(16)Gly polymorphism of the beta2-adrenergic receptor (AD... | DisGeNET | Detail |
| Together, our findings suggest evidence for a two-locus interaction between the LEPR Gln223Arg and A... | DisGeNET | Detail |
| Additive role of tiotropium in severe asthmatics and Arg16Gly in ADRB2 as a potential marker to pred... | DisGeNET | Detail |
| We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709,... | DisGeNET | Detail |
| We revealed that a combination of the Arg16Gly and Glu298Asp polymorphisms in ADRB2 and NOS3, respec... | DisGeNET | Detail |
| The MS4A2 C-109T T/T and ADRB2 R16G A/A genotypes were associated with asthma in the Chinese Han chi... | DisGeNET | Detail |
| The Arg16Gly and the Gln27Glu polymorphisms in the gene for the beta2-adrenergic receptor (beta2AR) ... | DisGeNET | Detail |
| The MS4A2 C-109T T/T and ADRB2 R16G A/A genotypes were associated with asthma in the Chinese Han chi... | 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 |
| The purpose of the present study was to evaluate the influence of the Arg16Gly variant allele of B2A... | DisGeNET | Detail |
| Arg16Gly polymorphism of ADRB2 was significantly associated with obesity in female adolescents, and ... | DisGeNET | Detail |
| Using the dexamethasone/corticotrophin-releasing hormone (DEX/CRH) test, we investigated the associa... | DisGeNET | Detail |
| Together, our findings suggest evidence for a two-locus interaction between the LEPR Gln223Arg and A... | DisGeNET | Detail |
| Seven variants displaying conflicting results in previous reports and supposedly implicated in the s... | 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 |
| We revealed that a combination of the Arg16Gly and Glu298Asp polymorphisms in ADRB2 and NOS3, respec... | DisGeNET | Detail |
| ADRB2 Arg16Gly polymorphism, lung function, and mortality: results from the Atherosclerosis Risk in ... | DisGeNET | Detail |
| The MS4A2 C-109T T/T and ADRB2 R16G A/A genotypes were associated with asthma in the Chinese Han chi... | DisGeNET | Detail |
| Proposed test statistics are applied to NHANES III data to test for associations between the locus A... | DisGeNET | Detail |
| The purpose of the present study was to evaluate the influence of the Arg16Gly variant allele of B2A... | DisGeNET | Detail |
| CART analysis showed that smoking parents who overate and carried the Arg allele, ADRB2 R16G, had an... | 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 |
| Subjects who were homozygous both GG in the G-261A polymorphism at the alpha(2A)AR locus and GlyGly ... | DisGeNET | Detail |
| The SERPINA1 p.V213A polymorphism was found associated with DB risk while the ADRB2 p.G16R is a risk... | DisGeNET | Detail |
| We characterized one single nucleotide polymorphism (SNP) in the promoter region (5'LC-Cys19Arg) and... | DisGeNET | Detail |
| We extended our findings to an independent case/control sample of Black hypertensive ESRD, in which ... | 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 |
| Proposed test statistics are applied to NHANES III data to test for associations between the locus A... | DisGeNET | Detail |
| We extended our findings to an independent case/control sample of Black hypertensive ESRD, in which ... | DisGeNET | Detail |
| We examined the associations of single nucleotide polymorphisms (SNPs) in three candidate hypertensi... | DisGeNET | Detail |
| Seven variants displaying conflicting results in previous reports and supposedly implicated in the s... | 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 |
| Proposed test statistics are applied to NHANES III data to test for associations between the locus A... | 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 |
| Seven variants displaying conflicting results in previous reports and supposedly implicated in the s... | DisGeNET | Detail |
| The authors analyze the possible implication of 7 genetic polymorphisms described as asthma suscepti... | DisGeNET | Detail |
| The SERPINA1 p.V213A polymorphism was found associated with DB risk while the ADRB2 p.G16R is a risk... | DisGeNET | Detail |
| Seven variants displaying conflicting results in previous reports and supposedly implicated in the s... | DisGeNET | Detail |
| These results suggest no evidence of an association between the Arg16Gly, Glu27Gln and Thr164Ile pol... | DisGeNET | Detail |
| In conclusion, a five-locus interaction exists among IL4 -590C>T, FCER1B E237G, CD14 -159C>T, ... | DisGeNET | Detail |
| Beta-2 adrenergic receptor gene polymorphisms Gln27Glu, Arg16Gly in patients with heart failure. | 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
- rs1042713 dbSNP
- Genome
- hg19
- Position
- chr5:148,206,440-148,206,440
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1208
- Mean of sample read depth (HGVD)
- 77.42
- Standard deviation of sample read depth (HGVD)
- 34.66
- Number of reference allele (HGVD)
- 1222
- Number of alternative allele (HGVD)
- 1194
- Allele Frequency (HGVD)
- 0.49420529801324503
- Gene Symbol (HGVD)
- ADRB2
- 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))
- rs1042713
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4985
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8355
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8630
- East Asian Allele Counts (ExAC)
- 4729
- East Asian Heterozygous Counts (ExAC)
- 2155
- East Asian Homozygous Counts (ExAC)
- 1287
- East Asian Allele Frequency (ExAC)
- 0.5479721900347625
- Chromosome Counts in All Race (ExAC)
- 121346
- Allele Counts in All Race (ExAC)
- 51009
- Heterozygous Counts in All Race (ExAC)
- 28855
- Homozygous Counts in All Race (ExAC)
- 11077
- Allele Frequency in All Race (ExAC)
- 0.4203599624215055
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