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 |