Allele Count: | 4 |
---|---|
Allele Number: | 5998 |
Allele Frequency: | 6.6689e-4 |
Number of Homozygotes: | 0 |
Dataset | Population | Population abbr | Allele Frequency |
---|---|---|---|
1KGP3 | East Asian | EAS | 0.0 |
South Asian | SAS | 0.0327 | |
African | AFR | 4.5000e-3 | |
Americas | AMR | 0.1009 | |
European ancestry | EUR | 0.0616 | |
total | 0.0339 | ||
gnomAD v3 Genomes | East Asian | EAS | 3.1949e-4 |
South Asian | SAS | 0.0303 | |
Afican | AFR | 0.0148 | |
Latino | AMR | 0.1126 | |
Amish | AMI | 0.1044 | |
European(Finnish) | FIN | 0.1100 | |
European(non-Finnish) | NFE | 0.0662 | |
Ashkenazi Jewish | ASJ | 0.0479 | |
other | OTH | 0.0493 | |
total | 0.0561 |
Region | Gene ID | Gene Detail | Exonic function | Consequence | |
---|---|---|---|---|---|
Ensembl | UTR3 | NUDT15 | ENST00000258662.2:c.*7G>A | - | - |
RefSeq | UTR3 | NUDT15 | NM_018283:c.*7G>A | - | - |
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 |