Allele Count: | 1 |
---|---|
Allele Number: | 5984 |
Allele Frequency: | 1.6711e-4 |
Number of Homozygotes: | 0 |
Dataset | Population | Population abbr | Allele Frequency |
---|---|---|---|
1KGP3 | East Asian | EAS | 0.0 |
South Asian | SAS | 2.0000e-3 | |
African | AFR | 0.0 | |
Americas | AMR | 2.9000e-3 | |
European ancestry | EUR | 0.0 | |
total | 7.9872e-4 | ||
gnomAD v3 Genomes | East Asian | EAS | 0.0 |
South Asian | SAS | 0.0 | |
Afican | AFR | 0.0 | |
Latino | AMR | 0.0 | |
Amish | AMI | 0.0 | |
European(Finnish) | FIN | 0.0 | |
European(non-Finnish) | NFE | 7.7703e-5 | |
Ashkenazi Jewish | ASJ | 1.8349e-3 | |
other | OTH | 4.6729e-4 | |
total | 8.4195e-5 |
Region | Gene ID | Gene Detail | Exonic function | Consequence | |
---|---|---|---|---|---|
Ensembl | exonic | CYP2D6 | - | nonsynonymous SNV | CYP2D6:ENST00000359033.4:exon6:c.G994A:p.E332K,CYP2D6:ENST00000389970.7:exon8:c.G1138A:p.E380K |
RefSeq | exonic | CYP2D6;CYP2D7 | - | nonsynonymous SNV | CYP2D6:NM_001025161:exon6:c.G994A:p.E332K,CYP2D6:NM_000106:exon7:c.G1147A:p.E383K |
Method | Score | Rank Score | predicted consequence |
---|---|---|---|
SIFT | 0.16 | 0.309 | T |
PolyPhen2_HDIV | 0.137 | 0.321 | B |
PolyPhen2_HVAR | 0.064 | 0.323 | B |
FATHMM | -0.3 | 0.679 | T |
CADD | 2.321 | 0.340 | 18.30 |
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*72 | atomoxetine | CYP2D6 and Atomoxetine | https://cpicpgx.org/cpic-guideline-for-atomoxetine-based-on-cyp2d6-genotype/ | A | 1A | Actionable PGx | 30801677 |
CYP2D6*72 | codeine | CYP2D6 and Codeine | https://cpicpgx.org/guidelines/guideline-for-codeine-and-cyp2d6/ | A | 1A | Actionable PGx | 22205192;24458010 |
CYP2D6*72 | ondansetron | CYP2D6 and Ondansetron and Tropisetron | https://cpicpgx.org/guidelines/guideline-for-ondansetron-and-tropisetron-and-cyp2d6-genotype/ | A | 1A | Informative PGx | 28002639 |
CYP2D6*72 | tamoxifen | CYP2D6 and Tamoxifen | https://cpicpgx.org/guidelines/cpic-guideline-for-tamoxifen-based-on-cyp2d6-genotype/ | A | 1A | Actionable PGx | 29385237 |
CYP2D6*72 | 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*72 | clomipramine | CYP2D6, CYP2C19 and Tricyclic Antidepressants | https://cpicpgx.org/guidelines/guideline-for-tricyclic-antidepressants-and-cyp2d6-and-cyp2c19/ | B | 1A | Actionable PGx | 23486447;27997040 |