chr5:148827083:G>A Detail (hg38) (ADRB2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:148,206,646-148,206,646 View the variant detail on this assembly version. |
| hg38 | chr5:148,827,083-148,827,083 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000024.5:c.252G>A | NP_000015.1:p.Leu84= |
| Ensemble | ENST00000305988.6:c.252G>A | ENST00000305988.6:p.Leu84= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.390 |
| ToMMo:0.400 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.349 |
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 |
|---|---|---|---|---|---|
|
Benign
|
2018-11-10 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.231 | obesity | We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... | BeFree | 15959859 | Detail |
| 0.343 | obesity | We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... | BeFree | 15959859 | Detail |
| 0.440 | obesity | We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... | BeFree | 15959859 | Detail |
| 0.335 | obesity | We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... | BeFree | 15959859 | Detail |
| 0.223 | obesity | We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... | BeFree | 15959859 | Detail |
| 0.439 | obesity | We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... | BeFree | 15959859 | Detail |
| 0.309 | obesity | We analyzed the obesity-related phenotypes body mass index (BMI), percentage of ... | BeFree | 15959859 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000024.6(ADRB2):c.252G>A (p.Leu84=) AND not provided | ClinVar | Detail |
| We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... | DisGeNET | Detail |
| We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... | DisGeNET | Detail |
| We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... | DisGeNET | Detail |
| We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... | DisGeNET | Detail |
| We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... | DisGeNET | Detail |
| We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... | DisGeNET | Detail |
| We analyzed the obesity-related phenotypes body mass index (BMI), percentage of body fat, plasma lep... | 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
- rs1042717 dbSNP
- Genome
- hg38
- Position
- chr5:148,827,083-148,827,083
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 134.46
- Standard deviation of sample read depth (HGVD)
- 58.98
- Number of reference allele (HGVD)
- 1477
- Number of alternative allele (HGVD)
- 943
- Allele Frequency (HGVD)
- 0.3896694214876033
- 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))
- rs1042717
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3998
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6701
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8510
- East Asian Allele Counts (ExAC)
- 2969
- East Asian Heterozygous Counts (ExAC)
- 1979
- East Asian Homozygous Counts (ExAC)
- 495
- East Asian Allele Frequency (ExAC)
- 0.34888366627497064
- Chromosome Counts in All Race (ExAC)
- 120730
- Allele Counts in All Race (ExAC)
- 31080
- Heterozygous Counts in All Race (ExAC)
- 22321
- Homozygous Counts in All Race (ExAC)
- 4379
- Allele Frequency in All Race (ExAC)
- 0.2574339435103123
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