chr2:208473184:G>A Detail (hg19) (METTL21A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:208,473,184-208,473,184 |
| hg38 | chr2:207,608,460-207,608,460 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001308021.1:c.259+13346C>T | |
| Ensemble | ENST00000425132.5:c.259+13346C>T | |
| ENST00000432416.5:c.259+13346C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.109 | |
| 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 | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.012 | Mental Depression | One hundred-ninety MD patients collected in the context of a resistant depressio... | BeFree | 20643483 | Detail |
| 0.004 | depressive disorder | One hundred-ninety MD patients collected in the context of a resistant depressio... | BeFree | 20643483 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| One hundred-ninety MD patients collected in the context of a resistant depression study and treated ... | DisGeNET | Detail |
| One hundred-ninety MD patients collected in the context of a resistant depression study and treated ... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs7569963 dbSNP
- Genome
- hg19
- Position
- chr2:208,473,184-208,473,184
- 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))
- rs7569963
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.109
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1827
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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