chr5:148207447:G>C Detail (hg19) (ADRB2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:148,207,447-148,207,447 |
| hg38 | chr5:148,827,884-148,827,884 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000024.5:c.1053G>C | NP_000015.1:p.Gly351= |
| Ensemble | ENST00000305988.6:c.1053G>C | ENST00000305988.6:p.Gly351= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.511 |
| ToMMo:0.523 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.457 |
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.1053G>C (p.Gly351=) 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
- rs1042719 dbSNP
- Genome
- hg19
- Position
- chr5:148,207,447-148,207,447
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1206
- Mean of sample read depth (HGVD)
- 110.21
- Standard deviation of sample read depth (HGVD)
- 47.33
- Number of reference allele (HGVD)
- 1180
- Number of alternative allele (HGVD)
- 1231
- Allele Frequency (HGVD)
- 0.510576524263791
- 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))
- rs1042719
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5233
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8770
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8612
- East Asian Allele Counts (ExAC)
- 3936
- East Asian Heterozygous Counts (ExAC)
- 2140
- East Asian Homozygous Counts (ExAC)
- 898
- East Asian Allele Frequency (ExAC)
- 0.45703669298653044
- Chromosome Counts in All Race (ExAC)
- 121252
- Allele Counts in All Race (ExAC)
- 40970
- Heterozygous Counts in All Race (ExAC)
- 26552
- Homozygous Counts in All Race (ExAC)
- 7209
- Allele Frequency in All Race (ExAC)
- 0.33789133375119584
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