| Allele Count: | 5997 |
|---|---|
| Allele Number: | 5998 |
| Allele Frequency: | 0.9998 |
| Number of Homozygotes: | 2998 |
This variant is multiallelic. Others alt alleles are:
| Dataset | Population | Population abbr | Allele Frequency |
|---|---|---|---|
| 1KGP3 | East Asian | EAS | 1.00 |
| South Asian | SAS | 1.0000 | |
| African | AFR | 0.9372 | |
| Americas | AMR | 0.9928 | |
| European ancestry | EUR | 0.9980 | |
| total | 0.9820 | ||
| gnomAD v3 Genomes | East Asian | EAS | 1.0000 |
| South Asian | SAS | 0.9997 | |
| Afican | AFR | 0.9617 | |
| Latino | AMR | 0.9956 | |
| Amish | AMI | 1.0000 | |
| European(Finnish) | FIN | 1.0000 | |
| European(non-Finnish) | NFE | 0.9999 | |
| Ashkenazi Jewish | ASJ | 1.0000 | |
| other | OTH | 0.9898 | |
| total | 0.9881 | ||
| 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 |
|---|---|---|---|---|---|---|---|
| - | - | - | - | - | - | - | - |
