chr22:20100596:T>C Detail (hg19) (TRMT2A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr22:20,100,596-20,100,596 |
| hg38 | chr22:20,113,073-20,113,073 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001257994.1:c.1549+45A>G | |
| NM_022727.5:c.1549+45A>G | ||
| NM_182984.4:c.1549+45A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.268 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.171 |
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 |
|---|---|---|---|---|---|
| 0.097 | schizophrenia | For further support from within the Han Chinese ethnic group, we selected two si... | BeFree | 18075473 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| For further support from within the Han Chinese ethnic group, we selected two single nucleotide poly... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1633445 dbSNP
- Genome
- hg19
- Position
- chr22:20,100,596-20,100,596
- 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))
- rs1633445
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.268
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4491
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8602
- East Asian Allele Counts (ExAC)
- 1469
- East Asian Heterozygous Counts (ExAC)
- 1201
- East Asian Homozygous Counts (ExAC)
- 134
- East Asian Allele Frequency (ExAC)
- 0.17077423854917462
- Chromosome Counts in All Race (ExAC)
- 120130
- Allele Counts in All Race (ExAC)
- 26665
- Heterozygous Counts in All Race (ExAC)
- 20309
- Homozygous Counts in All Race (ExAC)
- 3178
- Allele Frequency in All Race (ExAC)
- 0.22196786814284525
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