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 | - |
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:exon6:c.C1009G:p.R337G,CYP2D6:ENST00000389970.7:exon8:c.C1153G:p.R385G |
RefSeq | exonic | CYP2D6;CYP2D7 | - | nonsynonymous SNV | CYP2D6:NM_001025161:exon6:c.C1009G:p.R337G,CYP2D6:NM_000106:exon7:c.C1162G:p.R388G |
Method | Score | Rank Score | predicted consequence |
---|---|---|---|
SIFT | 0.29 | 0.241 | T |
PolyPhen2_HDIV | 0.0 | 0.026 | B |
PolyPhen2_HVAR | 0.004 | 0.093 | B |
FATHMM | -1.3 | 0.796 | T |
CADD | 1.880 | 0.287 | 15.47 |
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 |
---|---|---|---|---|---|---|---|
- | - | - | - | - | - | - | - |