chr20:58890516:G>A Detail (hg38) (GNAS)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr20:57,465,571-57,465,571 View the variant detail on this assembly version. |
| hg38 | chr20:58,890,516-58,890,516 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001309840.1:c.*43-5096G>A | |
| NM_001309861.1:c.*43-5096G>A | ||
| NM_016592.3:c.*43-5096G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.584 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
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 |
|---|---|---|---|---|---|
| 0.248 | Heart failure | The present study sought to investigate whether ADRB1 Arg389Gly (rs1801253), GNA... | BeFree | 23065660 | Detail |
| 0.013 | congestive heart failure | The present study sought to investigate whether ADRB1 Arg389Gly (rs1801253), GNA... | BeFree | 23065660 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The present study sought to investigate whether ADRB1 Arg389Gly (rs1801253), GNAS -1211 G/A (rs61238... | DisGeNET | Detail |
| The present study sought to investigate whether ADRB1 Arg389Gly (rs1801253), GNAS -1211 G/A (rs61238... | 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
- rs6123837 dbSNP
- Genome
- hg38
- Position
- chr20:58,890,516-58,890,516
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs6123837
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.584
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9785
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16754
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