| Allele Count: | 872 |
|---|---|
| Allele Number: | 21622 |
| Allele Frequency: | 0.0403 |
| Number of Homozygotes: | 23 |
| Region | Gene ID | Gene Detail | Exonic function | Consequence | |
|---|---|---|---|---|---|
| RefSeq | exonic | CYP2C19 | . | stopgain | CYP2C19:NM_000769.4:exon4:c.G636A:p.W212X |
| ClinVar Significance | ClinVar Disease Name | ClinVar Allele ID | Tag-value |
|---|---|---|---|
| drug_response | Proguanil/_poor_metabolism_of|Mephenytoin/_poor_metabolism_of|not_provided|CYP2C19:_no_function|Acute_coronary_syndrome | - | MedGen:C1836026|MedGen:C1836024|MedGen:C3661900||Human_Phenotype_Ontology:HP:0033678/MONDO:MONDO:0005542/MeSH:D054058/MedGen:C0948089 |
| Risk Allele | Gene | Trait Class | Trait | OR/Beta | P-value | Study | Ancestry |
|---|---|---|---|---|---|---|---|
| - | - | - | - | - | - | - | - |
| Belong to Haplotype | Drug | Guideine | URL | CPIC_Level | PharmGKB_Level_of_Evidence | PGx_on_ FDA_Label | CPIC_Publications _PMID |
|---|---|---|---|---|---|---|---|
| CYP2C19*3 | clopidogrel | CYP2C19 and Clopidogrel | https://cpicpgx.org/guidelines/guideline-for-clopidogrel-and-cyp2c19/ | A | 1A | Actionable PGx | 21716271;23698643 |
| CYP2C19*3 | voriconazole | CYP2C19 and Voriconazole | https://cpicpgx.org/guidelines/guideline-for-voriconazole-and-cyp2c19/ | A | 1A | Actionable PGx | 27981572 |
| CYP2C19*3 | sertraline | CYP2D6, CYP2C19 and Selective Serotonin Reuptake Inhibitors | https://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/ | B | 1A | - | 25974703 |
| CYP2C19*3 | doxepin | CYP2D6, CYP2C19 and Tricyclic Antidepressants | https://cpicpgx.org/guidelines/guideline-for-tricyclic-antidepressants-and-cyp2d6-and-cyp2c19/ | B | 3 | Actionable PGx | 23486447;27997040 |
| Marker | Cell type | Range |
|---|---|---|
| - | - | - |