| Allele Count: | 0 |
|---|---|
| Allele Number: | 5976 |
| Allele Frequency: | 0.0 |
| Number of Homozygotes: | 0 |
This variant is multiallelic. Others alt alleles are:
| Dataset | Population | Population abbr | Allele Frequency |
|---|---|---|---|
| 1KGP3 | East Asian | EAS | 0.0 |
| South Asian | SAS | 0.0 | |
| African | AFR | 0.0 | |
| Americas | AMR | 1.4000e-3 | |
| European ancestry | EUR | 5.0000e-3 | |
| total | 1.1981e-3 | ||
| gnomAD v3 Genomes | East Asian | EAS | 0.0 |
| South Asian | SAS | 6.5920e-4 | |
| Afican | AFR | 6.9528e-4 | |
| Latino | AMR | 5.1372e-3 | |
| Amish | AMI | 0.0 | |
| European(Finnish) | FIN | 9.5566e-5 | |
| European(non-Finnish) | NFE | 3.5719e-3 | |
| Ashkenazi Jewish | ASJ | 1.8051e-3 | |
| other | OTH | 6.0634e-3 | |
| total | 2.4595e-3 | ||
| Region | Gene ID | Gene Detail | Exonic function | Consequence | |
|---|---|---|---|---|---|
| Ensembl | exonic | CYP2D6 | - | nonsynonymous SNV | CYP2D6:ENST00000389970.7:exon3:c.C385G:p.Q129E |
| RefSeq | exonic | CYP2D6;CYP2D7 | - | nonsynonymous SNV | CYP2D6:NM_000106:exon3:c.C451G:p.Q151E |
| Method | Score | Rank Score | predicted consequence |
|---|---|---|---|
| SIFT | 0.77 | 0.034 | T |
| PolyPhen2_HDIV | 0.003 | 0.102 | B |
| PolyPhen2_HVAR | 0.003 | 0.080 | B |
| FATHMM | -1.13 | 0.777 | T |
| CADD | -1.892 | 0.009 | 0.002 |
| ClinVar Significance | ClinVar Disease Name | ClinVar Allele ID | Tag-value |
|---|---|---|---|
| - | - | - | - |
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 |
|---|---|---|---|
| - | - | - | - |
| Belong to Haplotype | Drug | Guideine | URL | CPIC_Level | PharmGKB_Level_of_Evidence | PGx_on_ FDA_Label | CPIC_Publications _PMID |
|---|---|---|---|---|---|---|---|
| CYP2D6*28 | atomoxetine | CYP2D6 and Atomoxetine | https://cpicpgx.org/cpic-guideline-for-atomoxetine-based-on-cyp2d6-genotype/ | A | 1A | Actionable PGx | 30801677 |
| CYP2D6*28 | codeine | CYP2D6 and Codeine | https://cpicpgx.org/guidelines/guideline-for-codeine-and-cyp2d6/ | A | 1A | Actionable PGx | 22205192;24458010 |
| CYP2D6*28 | ondansetron | CYP2D6 and Ondansetron and Tropisetron | https://cpicpgx.org/guidelines/guideline-for-ondansetron-and-tropisetron-and-cyp2d6-genotype/ | A | 1A | Informative PGx | 28002639 |
| CYP2D6*28 | tamoxifen | CYP2D6 and Tamoxifen | https://cpicpgx.org/guidelines/cpic-guideline-for-tamoxifen-based-on-cyp2d6-genotype/ | A | 1A | Actionable PGx | 29385237 |
| CYP2D6*28 | fluvoxamine | CYP2D6, CYP2C19 and Selective Serotonin Reuptake Inhibitors | https://cpicpgx.org/guidelines/guideline-for-selective-serotonin-reuptake-inhibitors-and-cyp2d6-and-cyp2c19/ | A | 1A | Actionable PGx | 25974703 |
| CYP2D6*28 | clomipramine | CYP2D6, CYP2C19 and Tricyclic Antidepressants | https://cpicpgx.org/guidelines/guideline-for-tricyclic-antidepressants-and-cyp2d6-and-cyp2c19/ | B | 1A | Actionable PGx | 23486447;27997040 |
