chr10:112836503:G>C Detail (hg19) (ADRA2A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:112,836,503-112,836,503 |
| hg38 | chr10:111,076,745-111,076,745 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:0.285 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Likely benign
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely benign
|
2018-03-09 | criteria provided, single submitter | not specified |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Attention Deficit Disorder | The C-1291G polymorphism (rs1800544) in the promoter region of the alpha(2A)-adr... | BeFree | 19922756 | Detail |
| 0.025 | schizophrenia | Association was also evaluated by considering the polymorphisms as interactions;... | BeFree | 22940547 | Detail |
| 0.006 | schizophrenia | Association was also evaluated by considering the polymorphisms as interactions;... | BeFree | 22940547 | Detail |
| 0.264 | schizophrenia | Association was also evaluated by considering the polymorphisms as interactions;... | BeFree | 22940547 | Detail |
| 0.098 | schizophrenia | Association was also evaluated by considering the polymorphisms as interactions;... | BeFree | 22940547 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000681.3(ADRA2A):c.-1252G>C AND not specified | ClinVar | Detail |
| The C-1291G polymorphism (rs1800544) in the promoter region of the alpha(2A)-adrenoceptor gene (ADRA... | DisGeNET | Detail |
| Association was also evaluated by considering the polymorphisms as interactions; in this case, a lik... | DisGeNET | Detail |
| Association was also evaluated by considering the polymorphisms as interactions; in this case, a lik... | DisGeNET | Detail |
| Association was also evaluated by considering the polymorphisms as interactions; in this case, a lik... | DisGeNET | Detail |
| Association was also evaluated by considering the polymorphisms as interactions; in this case, a lik... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs1800544 dbSNP
- Genome
- hg19
- Position
- chr10:112,836,503-112,836,503
- Variant Type
- snv
- Reference Allele
- G
- 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))
- rs1800544
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2852
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4780
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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