chr11:113936885:G>A Detail (hg38) (HTR3B)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:113,807,607-113,807,607 View the variant detail on this assembly version. |
| hg38 | chr11:113,936,885-113,936,885 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006028.4:c.696+3792G>A | |
| Ensemble | ENST00000260191.8:c.696+3792G>A | |
| ENST00000537778.5:c.663+3792G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.766 | |
| 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 |
|---|---|---|---|---|---|
| 0.215 | Alcoholic Intoxication, Chronic | Subsequent analysis of these two interaction models revealed an OR of 2.71 and 2... | BeFree | 23757001 | Detail |
| 0.003 | Alcoholic Intoxication, Chronic | Subsequent analysis of these two interaction models revealed an OR of 2.71 and 2... | BeFree | 23757001 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Subsequent analysis of these two interaction models revealed an OR of 2.71 and 2.80, respectively, f... | DisGeNET | Detail |
| Subsequent analysis of these two interaction models revealed an OR of 2.71 and 2.80, respectively, f... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs3782025 dbSNP
- Genome
- hg38
- Position
- chr11:113,936,885-113,936,885
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs3782025
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7659
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12835
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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