chr13:46835532:C>A Detail (hg38) (HTR2A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:47,409,667-47,409,667 View the variant detail on this assembly version. |
| hg38 | chr13:46,835,532-46,835,532 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000621.4:c.721G>T | NP_000612.1:p.Val241Leu |
| NM_001165947.2:c.232G>T | NP_001159419.1:p.Val78Leu | |
| Ensemble | ENST00000542664.4:c.721G>T | ENST00000542664.4:p.Val241Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | 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 |
| 0.020 | panic disorder | Nine gene-candidates, including 5-HTTLPR, MAO-A VNTR, TPH2 rs1386494, 5-HTR1A -1... | BeFree | 18832011 | Detail |
| 0.005 | PANIC DISORDER 1 | Nine gene-candidates, including 5-HTTLPR, MAO-A VNTR, TPH2 rs1386494, 5-HTR1A -1... | BeFree | 18832011 | Detail |
| 0.002 | PANIC DISORDER 1 | Nine gene-candidates, including 5-HTTLPR, MAO-A VNTR, TPH2 rs1386494, 5-HTR1A -1... | BeFree | 18832011 | Detail |
| 0.162 | panic disorder | Nine gene-candidates, including 5-HTTLPR, MAO-A VNTR, TPH2 rs1386494, 5-HTR1A -1... | BeFree | 18832011 | Detail |
| <0.001 | Inattention | Furthermore, two candidate genes for ADHD, the COMT VAL158MET and the 5-HT2a T10... | BeFree | 16362639 | 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 |
| Nine gene-candidates, including 5-HTTLPR, MAO-A VNTR, TPH2 rs1386494, 5-HTR1A -1019C-G, 5-HTR2A 102T... | DisGeNET | Detail |
| Nine gene-candidates, including 5-HTTLPR, MAO-A VNTR, TPH2 rs1386494, 5-HTR1A -1019C-G, 5-HTR2A 102T... | DisGeNET | Detail |
| Nine gene-candidates, including 5-HTTLPR, MAO-A VNTR, TPH2 rs1386494, 5-HTR1A -1019C-G, 5-HTR2A 102T... | DisGeNET | Detail |
| Nine gene-candidates, including 5-HTTLPR, MAO-A VNTR, TPH2 rs1386494, 5-HTR1A -1019C-G, 5-HTR2A 102T... | DisGeNET | Detail |
| Furthermore, two candidate genes for ADHD, the COMT VAL158MET and the 5-HT2a T102C polymorphisms, we... | 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
- -
- dbSNP
- rs75634836 dbSNP
- Genome
- hg38
- Position
- chr13:46,835,532-46,835,532
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
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