chr2:127132061:G>A Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:127,889,637-127,889,637 View the variant detail on this assembly version. |
| hg38 | chr2:127,132,061-127,132,061 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.062 | |
| 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 |
|---|---|---|---|---|---|
| <0.001 | Impaired cognition | Our prevalent case study comparing prevalent AD cases (n = 428) with participant... | BeFree | 24176626 | Detail |
| 0.200 | Impaired cognition | Our prevalent case study comparing prevalent AD cases (n = 428) with participant... | BeFree | 24176626 | Detail |
| 0.259 | Alzheimer's disease | [Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late... | GAD | 21460841 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Our prevalent case study comparing prevalent AD cases (n = 428) with participants with no cognitive ... | DisGeNET | Detail |
| Our prevalent case study comparing prevalent AD cases (n = 428) with participants with no cognitive ... | DisGeNET | Detail |
| [Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer\'s ... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs7561528 dbSNP
- Genome
- hg38
- Position
- chr2:127,132,061-127,132,061
- 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))
- rs7561528
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0623
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1044
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser