chr19:41018182:A>G Detail (hg38) (CYP2B6)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:41,524,087-41,524,087 View the variant detail on this assembly version. |
| hg38 | chr19:41,018,182-41,018,182 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000767.4:c.*1355A>G | |
| Ensemble | ENST00000324071.10:c.*1355A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.647 | |
| 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 |
|---|---|---|---|---|---|
| <0.001 | Hirschsprung Disease | Associations Between CYP2B6 rs707265, rs1042389, rs2054675, and Hirschsprung Dis... | BeFree | 25424204 | Detail |
| <0.001 | Hirschsprung disease 1 | Associations Between CYP2B6 rs707265, rs1042389, rs2054675, and Hirschsprung Dis... | BeFree | 25424204 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Associations Between CYP2B6 rs707265, rs1042389, rs2054675, and Hirschsprung Disease in a Chinese Po... | DisGeNET | Detail |
| Associations Between CYP2B6 rs707265, rs1042389, rs2054675, and Hirschsprung Disease in a Chinese Po... | 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
- -
- dbSNP
- rs707265 dbSNP
- Genome
- hg38
- Position
- chr19:41,018,182-41,018,182
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- 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))
- rs707265
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6468
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10841
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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