chr19:41597751:C>T Detail (hg19) (CYP2A13)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:41,597,751-41,597,751 |
| hg38 | chr19:41,091,846-41,091,846 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000766.4:c.769C>T | NP_000757.2:p.Arg257Cys |
| Ensemble | ENST00000330436.4:c.769C>T | ENST00000330436.4:p.Arg257Cys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.070 |
| ToMMo:0.069 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.075 |
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 |
|---|---|---|---|---|---|
| 0.133 | nicotine dependence | The purpose of this study was to analyse the association of smoking status and s... | BeFree | 22046326 | Detail |
| <0.001 | nicotine dependence | The purpose of this study was to analyse the association of smoking status and s... | BeFree | 22046326 | Detail |
| 0.020 | nicotine dependence | The purpose of this study was to analyse the association of smoking status and s... | BeFree | 22046326 | Detail |
| 0.003 | nicotine dependence | The purpose of this study was to analyse the association of smoking status and s... | BeFree | 22046326 | Detail |
| 0.002 | nicotine dependence | The purpose of this study was to analyse the association of smoking status and s... | BeFree | 22046326 | Detail |
| 0.001 | nicotine dependence | The purpose of this study was to analyse the association of smoking status and s... | BeFree | 22046326 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The purpose of this study was to analyse the association of smoking status and smoking-related pheno... | DisGeNET | Detail |
| The purpose of this study was to analyse the association of smoking status and smoking-related pheno... | DisGeNET | Detail |
| The purpose of this study was to analyse the association of smoking status and smoking-related pheno... | DisGeNET | Detail |
| The purpose of this study was to analyse the association of smoking status and smoking-related pheno... | DisGeNET | Detail |
| The purpose of this study was to analyse the association of smoking status and smoking-related pheno... | DisGeNET | Detail |
| The purpose of this study was to analyse the association of smoking status and smoking-related pheno... | 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
- chr19:41,597,751-41,597,751
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- VQSRTrancheSNP99.00to99.90
- # of samples (HGVD)
- 1032
- Mean of sample read depth (HGVD)
- 25.84
- Standard deviation of sample read depth (HGVD)
- 22.83
- Number of reference allele (HGVD)
- 1920
- Number of alternative allele (HGVD)
- 144
- Allele Frequency (HGVD)
- 0.06976744186046512
- Gene Symbol (HGVD)
- CYP2A13
- 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))
- rs8192789
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0695
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1165
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8644
- East Asian Allele Counts (ExAC)
- 645
- East Asian Heterozygous Counts (ExAC)
- 589
- East Asian Homozygous Counts (ExAC)
- 28
- East Asian Allele Frequency (ExAC)
- 0.07461823229986117
- Chromosome Counts in All Race (ExAC)
- 121390
- Allele Counts in All Race (ExAC)
- 4145
- Heterozygous Counts in All Race (ExAC)
- 3755
- Homozygous Counts in All Race (ExAC)
- 195
- Allele Frequency in All Race (ExAC)
- 0.03414614053875937
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