chr19:41512792:C>T Detail (hg19) (CYP2B6)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:41,512,792-41,512,792 |
| hg38 | chr19:41,006,887-41,006,887 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000767.4:c.485-18C>T | |
| Ensemble | ENST00000324071.10:c.485-18C>T | |
| ENST00000593831.1:c.256+2441C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.478 |
| ToMMo:0.477 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.462 |
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 | HIV Infections | In this study, we investigated the effects of CYP2B6 516G>T (rs3745274), CYP2... | BeFree | 24831655 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In this study, we investigated the effects of CYP2B6 516G>T (rs3745274), CYP2B6 c.485-18C>T (r... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg19
- Position
- chr19:41,512,792-41,512,792
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 835
- Mean of sample read depth (HGVD)
- 98.53
- Standard deviation of sample read depth (HGVD)
- 42.73
- Number of reference allele (HGVD)
- 872
- Number of alternative allele (HGVD)
- 798
- Allele Frequency (HGVD)
- 0.47784431137724553
- Gene Symbol (HGVD)
- CYP2B6
- 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))
- rs4803419
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4769
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7993
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8156
- East Asian Allele Counts (ExAC)
- 3769
- East Asian Heterozygous Counts (ExAC)
- 2105
- East Asian Homozygous Counts (ExAC)
- 832
- East Asian Allele Frequency (ExAC)
- 0.46211378126532615
- Chromosome Counts in All Race (ExAC)
- 116048
- Allele Counts in All Race (ExAC)
- 38909
- Heterozygous Counts in All Race (ExAC)
- 25497
- Homozygous Counts in All Race (ExAC)
- 6706
- Allele Frequency in All Race (ExAC)
- 0.3352836757203916
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