| Allele Count: | 1 |
|---|---|
| Allele Number: | 5982 |
| Allele Frequency: | 1.6717e-4 |
| Number of Homozygotes: | 0 |
| Dataset | Population | Population abbr | Allele Frequency |
|---|---|---|---|
| 1KGP3 | East Asian | EAS | - |
| South Asian | SAS | - | |
| African | AFR | - | |
| Americas | AMR | - | |
| European ancestry | EUR | - | |
| total | - | ||
| 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 | 1.5542e-5 | |
| Ashkenazi Jewish | ASJ | 0.0 | |
| other | OTH | 0.0 | |
| total | 7.0253e-6 | ||
| Region | Gene ID | Gene Detail | Exonic function | Consequence | |
|---|---|---|---|---|---|
| Ensembl | exonic | CYP2D6 | - | nonsynonymous SNV | CYP2D6:ENST00000359033.4:exon8:c.G1337A:p.R446H,CYP2D6:ENST00000389970.7:exon10:c.G1481A:p.R494H |
| RefSeq | exonic | CYP2D6;CYP2D7 | - | nonsynonymous SNV | CYP2D6:NM_001025161:exon8:c.G1337A:p.R446H,CYP2D6:NM_000106:exon9:c.G1490A:p.R497H |
| Method | Score | Rank Score | predicted consequence |
|---|---|---|---|
| SIFT | 0.008 | 0.912 | D |
| PolyPhen2_HDIV | 1.0 | 0.899 | D |
| PolyPhen2_HVAR | 0.999 | 0.971 | D |
| FATHMM | -6.04 | 0.995 | D |
| CADD | 5.924 | 0.813 | 27.6 |
| 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 |
|---|---|---|---|---|---|---|---|
| - | - | - | - | - | - | - | - |
