chr6:78172992:G>A Detail (hg19) (HTR1B)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:78,172,992-78,172,992 |
| hg38 | chr6:77,463,275-77,463,275 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000863.2:c.129C>T | NP_000854.1:p.Ser43= |
| Ensemble | ENST00000369947.5:c.129C>T | ENST00000369947.5:p.Ser43= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.456 |
| ToMMo:0.449 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.487 |
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 |
|---|---|---|---|---|---|
| 0.003 | Mood Disorders | Two common genetic polymorphisms of 5-HT(1B) receptors, G861C and C129T, have be... | BeFree | 19702551 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Two common genetic polymorphisms of 5-HT(1B) receptors, G861C and C129T, have been implicated in aff... | 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
- -
- Genome
- hg19
- Position
- chr6:78,172,992-78,172,992
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1178
- Mean of sample read depth (HGVD)
- 50.65
- Standard deviation of sample read depth (HGVD)
- 28.40
- Number of reference allele (HGVD)
- 1281
- Number of alternative allele (HGVD)
- 1075
- Allele Frequency (HGVD)
- 0.4562818336162988
- Gene Symbol (HGVD)
- HTR1B
- 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))
- rs6298
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4485
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7517
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8634
- East Asian Allele Counts (ExAC)
- 4206
- East Asian Heterozygous Counts (ExAC)
- 2204
- East Asian Homozygous Counts (ExAC)
- 1001
- East Asian Allele Frequency (ExAC)
- 0.4871438498957609
- Chromosome Counts in All Race (ExAC)
- 121378
- Allele Counts in All Race (ExAC)
- 37218
- Heterozygous Counts in All Race (ExAC)
- 24798
- Homozygous Counts in All Race (ExAC)
- 6210
- Allele Frequency in All Race (ExAC)
- 0.3066288783799371
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