chr8:10002570:G>C Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:9,860,080-9,860,080 View the variant detail on this assembly version. |
| hg38 | chr8:10,002,570-10,002,570 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.605 | |
| 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 | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.002 | asthma | [A second-generation genomewide screen for asthma-susceptibility alleles in a fo... | GAD | 11022011 | Detail |
| 0.005 | obesity | [Genome-wide association scan meta-analysis identifies three Loci influencing ad... | GAD | 19557161 | Detail |
| <0.001 | Obesity, Abdominal | The MSRA rs545854 and TFAP2B rs987237 showed nominal associations with central o... | BeFree | 21674055 | Detail |
| <0.001 | Obesity, Abdominal | Two meta-analyses of genome-wide association studies (GWAS) have suggested that ... | BeFree | 21674055 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| [A second-generation genomewide screen for asthma-susceptibility alleles in a founder population.] | DisGeNET | Detail |
| [Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat dist... | DisGeNET | Detail |
| The MSRA rs545854 and TFAP2B rs987237 showed nominal associations with central obesity; however, no ... | DisGeNET | Detail |
| Two meta-analyses of genome-wide association studies (GWAS) have suggested that four variants: rs260... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs545854 dbSNP
- Genome
- hg38
- Position
- chr8:10,002,570-10,002,570
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- 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))
- rs545854
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6051
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10142
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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