chr5:148827083:G>C 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>C | NP_000015.1:p.Leu84= |
| Ensemble | ENST00000305988.6:c.252G>C | ENST00000305988.6:p.Leu84= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
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 |
|---|---|---|
| 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
- -
- Genome
- hg38
- Position
- chr5:148,827,083-148,827,083
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8510
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 120730
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 0
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.282945415389712E-6
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