| Allele Count: | 6 |
|---|---|
| Allele Number: | 5976 |
| Allele Frequency: | 1.0040e-3 |
| Number of Homozygotes: | 0 |
| Dataset | Population | Population abbr | Allele Frequency |
|---|---|---|---|
| 1KGP3 | East Asian | EAS | 6.0000e-3 |
| South Asian | SAS | 0.0 | |
| African | AFR | 0.0 | |
| Americas | AMR | 0.0 | |
| European ancestry | EUR | 0.0 | |
| total | 1.1981e-3 | ||
| gnomAD v3 Genomes | East Asian | EAS | 9.6401e-4 |
| South Asian | SAS | 0.0 | |
| Afican | AFR | 2.4279e-5 | |
| Latino | AMR | 9.5984e-4 | |
| Amish | AMI | 0.0 | |
| European(Finnish) | FIN | 0.0 | |
| European(non-Finnish) | NFE | 0.0 | |
| Ashkenazi Jewish | ASJ | 0.0 | |
| other | OTH | 1.4124e-3 | |
| total | 1.4101e-4 | ||
| Region | Gene ID | Gene Detail | Exonic function | Consequence | |
|---|---|---|---|---|---|
| Ensembl | exonic | CYP2D6 | - | nonsynonymous SNV | CYP2D6:ENST00000359033.4:exon1:c.G125A:p.G42E,CYP2D6:ENST00000389970.7:exon1:c.G59A:p.G20E |
| RefSeq | exonic | CYP2D6;CYP2D7 | - | nonsynonymous SNV | CYP2D6:NM_000106:exon1:c.G125A:p.G42E,CYP2D6:NM_001025161:exon1:c.G125A:p.G42E |
| Method | Score | Rank Score | predicted consequence |
|---|---|---|---|
| SIFT | 0.018 | 0.506 | D |
| PolyPhen2_HDIV | 0.99 | 0.615 | D |
| PolyPhen2_HVAR | 0.953 | 0.676 | D |
| FATHMM | 2.32 | 0.166 | T |
| CADD | 3.668 | 0.498 | 23.2 |
| 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*71 | atomoxetine | CYP2D6 and Atomoxetine | https://cpicpgx.org/cpic-guideline-for-atomoxetine-based-on-cyp2d6-genotype/ | A | 1A | Actionable PGx | 30801677 |
| CYP2D6*71 | codeine | CYP2D6 and Codeine | https://cpicpgx.org/guidelines/guideline-for-codeine-and-cyp2d6/ | A | 1A | Actionable PGx | 22205192;24458010 |
| CYP2D6*71 | ondansetron | CYP2D6 and Ondansetron and Tropisetron | https://cpicpgx.org/guidelines/guideline-for-ondansetron-and-tropisetron-and-cyp2d6-genotype/ | A | 1A | Informative PGx | 28002639 |
| CYP2D6*71 | tamoxifen | CYP2D6 and Tamoxifen | https://cpicpgx.org/guidelines/cpic-guideline-for-tamoxifen-based-on-cyp2d6-genotype/ | A | 1A | Actionable PGx | 29385237 |
| CYP2D6*71 | 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*71 | clomipramine | CYP2D6, CYP2C19 and Tricyclic Antidepressants | https://cpicpgx.org/guidelines/guideline-for-tricyclic-antidepressants-and-cyp2d6-and-cyp2c19/ | B | 1A | Actionable PGx | 23486447;27997040 |
