| Allele Count: | 4726 |
|---|---|
| Allele Number: | 5998 |
| Allele Frequency: | 0.7879 |
| Number of Homozygotes: | 1852 |
| Dataset | Population | Population abbr | Allele Frequency |
|---|---|---|---|
| 1KGP3 | East Asian | EAS | 0.79 |
| South Asian | SAS | 0.6217 | |
| African | AFR | 0.0923 | |
| Americas | AMR | 0.6902 | |
| European ancestry | EUR | 0.6988 | |
| total | 0.5409 | ||
| gnomAD v3 Genomes | East Asian | EAS | 0.7823 |
| South Asian | SAS | 0.6391 | |
| Afican | AFR | 0.1886 | |
| Latino | AMR | 0.6452 | |
| Amish | AMI | 0.7237 | |
| European(Finnish) | FIN | 0.6911 | |
| European(non-Finnish) | NFE | 0.7032 | |
| Ashkenazi Jewish | ASJ | 0.5825 | |
| other | OTH | 0.5897 | |
| total | 0.5420 | ||
| Region | Gene ID | Gene Detail | Exonic function | Consequence | |
|---|---|---|---|---|---|
| Ensembl | intronic | MTOR | - | - | - |
| RefSeq | intronic | MTOR | - | - | - |
| Method | Score | Rank Score | predicted consequence |
|---|---|---|---|
| SIFT | - | - | - |
| PolyPhen2_HDIV | - | - | - |
| PolyPhen2_HVAR | - | - | - |
| FATHMM | - | - | - |
| CADD | - | - | - |
| 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 |
|---|---|---|---|---|---|---|---|
| - | - | - | - | - | - | - | - |
