chr13:47469968:G>C Detail (hg19) (HTR2A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:47,469,968-47,469,968 |
| hg38 | chr13:46,895,833-46,895,833 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001165947.2:c.-78+841C>G | |
| NM_000621.4:c.74C>G | NP_000612.1:p.Thr25Ser | |
| Ensemble | ENST00000543956.5:c.-78+841C>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
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 |
|---|---|---|---|---|---|
| 0.341 | schizophrenia | The authors examined the frequencies of gene polymorphisms in the 5-HT1A (Arg219... | BeFree | 9734554 | Detail |
| 0.020 | schizophrenia | The authors examined the frequencies of gene polymorphisms in the 5-HT1A (Arg219... | BeFree | 9734554 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The authors examined the frequencies of gene polymorphisms in the 5-HT1A (Arg219Leu) and 5-HT2A (Thr... | DisGeNET | Detail |
| The authors examined the frequencies of gene polymorphisms in the 5-HT1A (Arg219Leu) and 5-HT2A (Thr... | 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
- chr13:47,469,968-47,469,968
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121354
- Allele Counts in All Race (ExAC)
- 4
- Heterozygous Counts in All Race (ExAC)
- 4
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 3.29614186594591E-5
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