chr7:99768096:A>G Detail (hg38) (CYP3A4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:99,365,719-99,365,719 View the variant detail on this assembly version. |
| hg38 | chr7:99,768,096-99,768,096 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001202855.2:c.670+258T>C | |
| NM_017460.5:c.670+258T>C | ||
| Ensemble | ENST00000336411.7:c.670+258T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.334 | |
| 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 | Aortic Aneurysm, Thoracic | We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome ... | BeFree | 25171434 | Detail |
| <0.001 | Aortic Aneurysm, Thoracic | We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome ... | BeFree | 25171434 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709,... | DisGeNET | Detail |
| We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709,... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2246709 dbSNP
- Genome
- hg38
- Position
- chr7:99,768,096-99,768,096
- 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))
- rs2246709
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3343
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5602
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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