chr16:79648854:T>C Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:79,682,751-79,682,751 View the variant detail on this assembly version. |
| hg38 | chr16:79,648,854-79,648,854 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.236 | |
| 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 |
|---|---|---|---|---|---|
| 0.008 | obesity | [In addition to FTO and MC4R, we detected significant association of obesity wit... | GAD | 19151714 | Detail |
| 0.005 | obesity | In each study, we tested associations of rs4712652 (near-PRL), rs10508503 (near-... | BeFree | 22430306 | Detail |
| <0.001 | Overweight | In each study, we tested associations of rs4712652 (near-PRL), rs10508503 (near-... | BeFree | 22430306 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| [In addition to FTO and MC4R, we detected significant association of obesity with three new risk loc... | DisGeNET | Detail |
| In each study, we tested associations of rs4712652 (near-PRL), rs10508503 (near-PTER), rs1424233 (ne... | DisGeNET | Detail |
| In each study, we tested associations of rs4712652 (near-PRL), rs10508503 (near-PTER), rs1424233 (ne... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs1424233 dbSNP
- Genome
- hg38
- Position
- chr16:79,648,854-79,648,854
- Variant Type
- snv
- Reference Allele
- T
- 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))
- rs1424233
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2363
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3960
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser