chr9:136500515:T>C Detail (hg19) (DBH)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:136,500,515-136,500,515 |
| hg38 | chr9:133,635,393-133,635,393 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.827 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
not provided
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
not provided
|
no assertion provided | Orthostatic hypotension 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | epilepsy | Stage 1 analysis included 290 patients with epilepsy and revealed a higher load ... | BeFree | 22881836 | Detail |
| <0.001 | epilepsy | Stage 1 analysis included 290 patients with epilepsy and revealed a higher load ... | BeFree | 22881836 | Detail |
| 0.002 | cocaine dependence | The influence of dopamine β-hydroxylase gene polymorphism rs1611115 on levodopa/... | BeFree | 24809448 | Detail |
| 0.329 | attention deficit hyperactivity disorder | Gene-gene interaction analysis revealed significant additive effect of DBH rs110... | BeFree | 21216270 | Detail |
| 0.178 | attention deficit hyperactivity disorder | Gene-gene interaction analysis revealed significant additive effect of DBH rs110... | BeFree | 21216270 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000787.3(DBH):c.-979T>C AND Orthostatic hypotension 1 | ClinVar | Detail |
| Stage 1 analysis included 290 patients with epilepsy and revealed a higher load of adverse psychotro... | DisGeNET | Detail |
| Stage 1 analysis included 290 patients with epilepsy and revealed a higher load of adverse psychotro... | DisGeNET | Detail |
| The influence of dopamine β-hydroxylase gene polymorphism rs1611115 on levodopa/carbidopa treatment ... | DisGeNET | Detail |
| Gene-gene interaction analysis revealed significant additive effect of DBH rs1108580 and DRD4 rs1800... | DisGeNET | Detail |
| Gene-gene interaction analysis revealed significant additive effect of DBH rs1108580 and DRD4 rs1800... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs1611115 dbSNP
- Genome
- hg19
- Position
- chr9:136,500,515-136,500,515
- 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))
- rs1611115
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8275
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 13868
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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