| Allele Count: | 294 |
|---|---|
| Allele Number: | 5998 |
| Allele Frequency: | 0.0490 |
| Number of Homozygotes: | 5 |
| Dataset | Population | Population abbr | Allele Frequency |
|---|---|---|---|
| 1KGP3 | East Asian | EAS | 0.06 |
| South Asian | SAS | 0.0123 | |
| African | AFR | 2.3000e-3 | |
| Americas | AMR | 0.0 | |
| European ancestry | EUR | 0.0 | |
| total | 0.0142 | ||
| gnomAD v3 Genomes | East Asian | EAS | 0.0541 |
| South Asian | SAS | 3.2852e-3 | |
| Afican | AFR | 2.8556e-4 | |
| Latino | AMR | 4.3969e-4 | |
| Amish | AMI | 0.0 | |
| European(Finnish) | FIN | 0.0 | |
| European(non-Finnish) | NFE | 1.5491e-4 | |
| Ashkenazi Jewish | ASJ | 0.0 | |
| other | OTH | 5.5710e-3 | |
| total | 1.5296e-3 | ||
| Region | Gene ID | Gene Detail | Exonic function | Consequence | |
|---|---|---|---|---|---|
| Ensembl | exonic | CYP2C19 | - | unknown | UNKNOWN |
| RefSeq | exonic | CYP2C19 | - | stopgain | CYP2C19:NM_000769:exon4:c.G636A:p.W212X |
| Method | Score | Rank Score | predicted consequence |
|---|---|---|---|
| SIFT | - | - | - |
| PolyPhen2_HDIV | - | - | - |
| PolyPhen2_HVAR | - | - | - |
| FATHMM | - | - | - |
| CADD | 8.055 | 0.957 | 35 |
| ClinVar Significance | ClinVar Disease Name | ClinVar Allele ID | Tag-value |
|---|---|---|---|
| drug_response | Mephenytoin,_poor_metabolism_of|Proguanil,_poor_metabolism_of|clopidogrel_response_-_Efficacy,_Toxicity/ADR|not_provided | 31938 | MedGen:C1836024|MedGen:C1836026|MedGen:CN236509|MedGen:CN517202 |
Loss of Function (LoF) variants are indentified by package LOFTEE developed recently by gnomAD group to assess stop-gained, splice site disrupting and frameshift variants as “low-confidence” (LC) or “high-confidence” (HC) LoF variants.
| LoF | LoF_filter | LoF_flags | LoF_info |
|---|---|---|---|
| HC | - | - | GERP_DIST:315.37981,BP_DIST:832,PERCENTILE:0.431771894093686,DIST_FROM_LAST_EXON:651,50_BP_RULE:PASS,ANN_ORF:44.3257,MAX_ORF:44.3257 |
| 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 |
