chr17:61576249:G>A Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:61,576,249-61,576,249 |
| hg38 | chr17:63,498,888-63,498,888 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.601 | |
| 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 |
|---|---|---|---|---|---|
| 0.203 | Kidney Diseases | We investigated the association of three ACE gene variants with DN, rs1799752 in... | BeFree | 19787680 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We investigated the association of three ACE gene variants with DN, rs1799752 insertion/deletion (I/... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs12449782 dbSNP
- Genome
- hg19
- Position
- chr17:61,576,249-61,576,249
- 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))
- rs12449782
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6015
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10081
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser