chr5:148827354:C>A Detail (hg38) (ADRB2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:148,206,917-148,206,917 View the variant detail on this assembly version. |
| hg38 | chr5:148,827,354-148,827,354 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000024.5:c.523C>A | NP_000015.1:p.Arg175= |
| Ensemble | ENST00000305988.6:c.523C>A | ENST00000305988.6:p.Arg175= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.393 |
| ToMMo:0.402 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.351 |
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
|
2021-06-09 | 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.523C>A (p.Arg175=) 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
- rs1042718 dbSNP
- Genome
- hg38
- Position
- chr5:148,827,354-148,827,354
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 123.55
- Standard deviation of sample read depth (HGVD)
- 60.92
- Number of reference allele (HGVD)
- 1470
- Number of alternative allele (HGVD)
- 950
- Allele Frequency (HGVD)
- 0.3925619834710744
- 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))
- rs1042718
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4016
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6730
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8628
- East Asian Allele Counts (ExAC)
- 3031
- East Asian Heterozygous Counts (ExAC)
- 1983
- East Asian Homozygous Counts (ExAC)
- 524
- East Asian Allele Frequency (ExAC)
- 0.35129809921186833
- Chromosome Counts in All Race (ExAC)
- 121374
- Allele Counts in All Race (ExAC)
- 28234
- Heterozygous Counts in All Race (ExAC)
- 20710
- Homozygous Counts in All Race (ExAC)
- 3762
- Allele Frequency in All Race (ExAC)
- 0.2326198362087432
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