chr12:121133072:C>T Detail (hg38) (P2RX7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:121,570,875-121,570,875 View the variant detail on this assembly version. |
| hg38 | chr12:121,133,072-121,133,072 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_002562.5:c.102C>T | NP_002553.3:p.His34= |
| NR_033951.1:c.102C>T | ||
| Ensemble | ENST00000328963.10:c.102C>T | ENST00000328963.10:p.His34= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
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 |
|---|---|---|---|---|---|
| 0.127 | major depressive disorder | To investigate the possible relationship between genetic risk factors and depres... | BeFree | 23157339 | Detail |
| 0.082 | depressive disorder | To investigate the possible relationship between genetic risk factors and depres... | BeFree | 23157339 | Detail |
| 0.026 | Mental Depression | To investigate the possible relationship between genetic risk factors and depres... | BeFree | 23157339 | Detail |
| 0.002 | Unipolar Depression | To investigate the possible relationship between genetic risk factors and depres... | BeFree | 23157339 | Detail |
| 0.013 | Mental Depression | To investigate the possible relationship between genetic risk factors and depres... | BeFree | 23157339 | Detail |
| 0.006 | depressive disorder | To investigate the possible relationship between genetic risk factors and depres... | BeFree | 23157339 | Detail |
| 0.088 | depressive disorder | To investigate the possible relationship between genetic risk factors and depres... | BeFree | 23157339 | Detail |
| 0.018 | Mental Depression | To investigate the possible relationship between genetic risk factors and depres... | BeFree | 23157339 | Detail |
| 0.087 | depressive disorder | To investigate the possible relationship between genetic risk factors and depres... | BeFree | 23157339 | Detail |
| 0.002 | depressive disorder | To investigate the possible relationship between genetic risk factors and depres... | BeFree | 23157339 | Detail |
| 0.003 | major depressive disorder | To investigate the possible relationship between genetic risk factors and depres... | BeFree | 23157339 | Detail |
| 0.004 | Unipolar Depression | To investigate the possible relationship between genetic risk factors and depres... | BeFree | 23157339 | Detail |
| 0.020 | Mental Depression | To investigate the possible relationship between genetic risk factors and depres... | BeFree | 23157339 | Detail |
| 0.009 | depressive disorder | To investigate the possible relationship between genetic risk factors and depres... | BeFree | 23157339 | Detail |
| 0.033 | Mental Depression | To investigate the possible relationship between genetic risk factors and depres... | BeFree | 23157339 | Detail |
| 0.006 | depressive disorder | To investigate the possible relationship between genetic risk factors and depres... | BeFree | 23157339 | Detail |
| 0.038 | Mental Depression | To investigate the possible relationship between genetic risk factors and depres... | BeFree | 23157339 | Detail |
| 0.009 | Mental Depression | To investigate the possible relationship between genetic risk factors and depres... | BeFree | 23157339 | Detail |
| 0.043 | Mental Depression | To investigate the possible relationship between genetic risk factors and depres... | BeFree | 23157339 | Detail |
| 0.007 | depressive disorder | To investigate the possible relationship between genetic risk factors and depres... | BeFree | 23157339 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| To investigate the possible relationship between genetic risk factors and depression in AD, we asses... | DisGeNET | Detail |
| To investigate the possible relationship between genetic risk factors and depression in AD, we asses... | DisGeNET | Detail |
| To investigate the possible relationship between genetic risk factors and depression in AD, we asses... | DisGeNET | Detail |
| To investigate the possible relationship between genetic risk factors and depression in AD, we asses... | DisGeNET | Detail |
| To investigate the possible relationship between genetic risk factors and depression in AD, we asses... | DisGeNET | Detail |
| To investigate the possible relationship between genetic risk factors and depression in AD, we asses... | DisGeNET | Detail |
| To investigate the possible relationship between genetic risk factors and depression in AD, we asses... | DisGeNET | Detail |
| To investigate the possible relationship between genetic risk factors and depression in AD, we asses... | DisGeNET | Detail |
| To investigate the possible relationship between genetic risk factors and depression in AD, we asses... | DisGeNET | Detail |
| To investigate the possible relationship between genetic risk factors and depression in AD, we asses... | DisGeNET | Detail |
| To investigate the possible relationship between genetic risk factors and depression in AD, we asses... | DisGeNET | Detail |
| To investigate the possible relationship between genetic risk factors and depression in AD, we asses... | DisGeNET | Detail |
| To investigate the possible relationship between genetic risk factors and depression in AD, we asses... | DisGeNET | Detail |
| To investigate the possible relationship between genetic risk factors and depression in AD, we asses... | DisGeNET | Detail |
| To investigate the possible relationship between genetic risk factors and depression in AD, we asses... | DisGeNET | Detail |
| To investigate the possible relationship between genetic risk factors and depression in AD, we asses... | DisGeNET | Detail |
| To investigate the possible relationship between genetic risk factors and depression in AD, we asses... | DisGeNET | Detail |
| To investigate the possible relationship between genetic risk factors and depression in AD, we asses... | DisGeNET | Detail |
| To investigate the possible relationship between genetic risk factors and depression in AD, we asses... | DisGeNET | Detail |
| To investigate the possible relationship between genetic risk factors and depression in AD, we asses... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg38
- Position
- chr12:121,133,072-121,133,072
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121410
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.6473107651758506E-5
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