| Allele Count: | 774 |
|---|---|
| Allele Number: | 5998 |
| Allele Frequency: | 0.1290 |
| Number of Homozygotes: | 52 |
| Dataset | Population | Population abbr | Allele Frequency |
|---|---|---|---|
| 1KGP3 | East Asian | EAS | 0.10 |
| South Asian | SAS | 0.0695 | |
| African | AFR | 8.0000e-4 | |
| Americas | AMR | 0.0447 | |
| European ancestry | EUR | 2.0000e-3 | |
| total | 0.0395 | ||
| gnomAD v3 Genomes | East Asian | EAS | 0.1010 |
| South Asian | SAS | 0.0733 | |
| Afican | AFR | 1.0003e-3 | |
| Latino | AMR | 0.0361 | |
| Amish | AMI | 0.0 | |
| European(Finnish) | FIN | 0.0223 | |
| European(non-Finnish) | NFE | 2.7887e-3 | |
| Ashkenazi Jewish | ASJ | 3.0121e-3 | |
| other | OTH | 0.0116 | |
| total | 0.0106 | ||
| Region | Gene ID | Gene Detail | Exonic function | Consequence | |
|---|---|---|---|---|---|
| Ensembl | exonic | NUDT15 | - | unknown | UNKNOWN |
| RefSeq | exonic | NUDT15 | - | nonsynonymous SNV | NUDT15:NM_018283:exon3:c.C415T:p.R139C |
| Method | Score | Rank Score | predicted consequence |
|---|---|---|---|
| SIFT | 0.161 | 0.236 | T |
| PolyPhen2_HDIV | 0.599 | 0.374 | P |
| PolyPhen2_HVAR | 0.043 | 0.229 | B |
| FATHMM | 2.46 | 0.149 | T |
| CADD | 2.988 | 0.419 | 22.2 |
| ClinVar Significance | ClinVar Disease Name | ClinVar Allele ID | Tag-value |
|---|---|---|---|
| drug_response | Thiopurines,_poor_metabolism_of,_2|azathioprine_response_-_Dosage,_Toxicity/ADR|mercaptopurine_response_-_Dosage,_Toxicity/ADR | 227129 | MedGen:C4225160,OMIM:616903|MedGen:CN236486|MedGen:CN236534 |
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*2 | thioguanine | TPMT, NUDT15 and Thiopurines | https://cpicpgx.org/guidelines/guideline-for-thiopurines-and-tpmt/ | A | - | Testing recommended | 21270794;23422873;30447069 |
| NUDT15*3 | thioguanine | TPMT, NUDT15 and Thiopurines | https://cpicpgx.org/guidelines/guideline-for-thiopurines-and-tpmt/ | A | - | Testing recommended | 21270794;23422873;30447069 |
