| Allele Count: | 2 |
|---|---|
| Allele Number: | 5998 |
| Allele Frequency: | 3.3344e-4 |
| Number of Homozygotes: | 0 |
| Dataset | Population | Population abbr | Allele Frequency |
|---|---|---|---|
| 1KGP3 | East Asian | EAS | 0.0 |
| South Asian | SAS | 0.0 | |
| African | AFR | 0.0 | |
| Americas | AMR | 0.0 | |
| European ancestry | EUR | 2.0000e-3 | |
| total | 3.9936e-4 | ||
| gnomAD v3 Genomes | East Asian | EAS | 3.1928e-4 |
| South Asian | SAS | 3.6066e-3 | |
| Afican | AFR | 2.3781e-4 | |
| Latino | AMR | 3.2943e-3 | |
| Amish | AMI | 0.0 | |
| European(Finnish) | FIN | 9.5402e-5 | |
| European(non-Finnish) | NFE | 1.4092e-3 | |
| Ashkenazi Jewish | ASJ | 3.0102e-4 | |
| other | OTH | 4.6468e-4 | |
| total | 1.1233e-3 | ||
| Region | Gene ID | Gene Detail | Exonic function | Consequence | |
|---|---|---|---|---|---|
| Ensembl | exonic | NUDT15 | - | unknown | UNKNOWN |
| RefSeq | exonic | NUDT15 | - | synonymous SNV | NUDT15:NM_001304745:exon1:c.C123A:p.G41G,NUDT15:NM_018283:exon1:c.C123A:p.G41G |
| 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 |
|---|---|---|---|---|---|---|---|
| NUDT15*1 | thioguanine | TPMT, NUDT15 and Thiopurines | https://cpicpgx.org/guidelines/guideline-for-thiopurines-and-tpmt/ | A | - | Testing recommended | 21270794;23422873;30447069 |
