chrX:40580182:G>A Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chrX:40,439,434-40,439,434 View the variant detail on this assembly version. |
| hg38 | chrX:40,580,182-40,580,182 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.886 | |
| 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 |
|---|---|---|---|---|---|
| 0.005 | Hypertensive disease | Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (p... | BeFree | 21157371 | Detail |
| 0.265 | coronary artery disease | Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (p... | BeFree | 21157371 | Detail |
| <0.001 | Vascular Diseases | Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (p... | BeFree | 21157371 | Detail |
| 0.042 | coronary artery disease | Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (p... | BeFree | 21157371 | Detail |
| <0.001 | coronary artery disease | Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (p... | BeFree | 21157371 | Detail |
| 0.005 | Vascular Diseases | Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (p... | BeFree | 21157371 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (pro)renin receptor (r... | DisGeNET | Detail |
| Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (pro)renin receptor (r... | DisGeNET | Detail |
| Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (pro)renin receptor (r... | DisGeNET | Detail |
| Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (pro)renin receptor (r... | DisGeNET | Detail |
| Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (pro)renin receptor (r... | DisGeNET | Detail |
| Four polymorphisms, located in the ACE (rs4291), angiotensinogen (rs5049) and (pro)renin receptor (r... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs2968915 dbSNP
- Genome
- hg38
- Position
- chrX:40,580,182-40,580,182
- 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))
- rs2968915
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.886
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 11377
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12841
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