Allele Count: | 1 |
---|---|
Allele Number: | 5978 |
Allele Frequency: | 1.6728e-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 | - |
South Asian | SAS | - | |
Afican | AFR | - | |
Latino | AMR | - | |
Amish | AMI | - | |
European(Finnish) | FIN | - | |
European(non-Finnish) | NFE | - | |
Ashkenazi Jewish | ASJ | - | |
other | OTH | - | |
total | - |
Region | Gene ID | Gene Detail | Exonic function | Consequence | |
---|---|---|---|---|---|
Ensembl | exonic | CYP2D6 | - | nonsynonymous SNV | CYP2D6:ENST00000359033.4:exon8:c.G1330A:p.V444M,CYP2D6:ENST00000389970.7:exon10:c.G1474A:p.V492M |
RefSeq | exonic | CYP2D6;CYP2D7 | - | nonsynonymous SNV | CYP2D6:NM_001025161:exon8:c.G1330A:p.V444M,CYP2D6:NM_000106:exon9:c.G1483A:p.V495M |
Method | Score | Rank Score | predicted consequence |
---|---|---|---|
SIFT | 0.044 | 0.410 | D |
PolyPhen2_HDIV | 0.268 | 0.326 | B |
PolyPhen2_HVAR | 0.025 | 0.284 | B |
FATHMM | -1.34 | 0.800 | T |
CADD | 1.834 | 0.281 | 15.19 |
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 |
---|---|---|---|---|---|---|---|
- | - | - | - | - | - | - | - |