chr3:114162776:A>G Detail (hg38) (DRD3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:113,881,623-113,881,623 View the variant detail on this assembly version. |
| hg38 | chr3:114,162,776-114,162,776 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_033663.5:c.271-2909T>C | |
| NM_000796.5:c.271-2909T>C | ||
| NM_001282563.2:c.271-2909T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.739 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
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 |
|---|---|---|---|---|---|
| <0.001 | heroin dependence | The GTA haplotype frequency in the block (rs324029, rs6280, rs9825563) was signi... | BeFree | 24398431 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The GTA haplotype frequency in the block (rs324029, rs6280, rs9825563) was significantly associated ... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs324029 dbSNP
- Genome
- hg38
- Position
- chr3:114,162,776-114,162,776
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- 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))
- rs324029
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7394
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12393
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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