Tag
Pyrimidine Catabolism
5 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs3918290 | DPYD *2A | Most critical pharmacogenomic variant causing complete loss of DPD enzyme fun... | Pharmacogenomics | Established | |
| rs55886062 | DPYD *13 | No-function DPYD star allele (I560S) causing severe DPD deficiency; one of fo... | Pharmacogenomics | Established | |
| rs56038477 | DPYD HapB3 tag (c.1236G>A, E412E) | Synonymous exon-11 tag SNP for the DPYD HapB3 haplotype; benign on its own bu... | Pharmacogenomics | Established | |
| rs67376798 | DPYD D949V | Decreased-function variant reducing DPD enzyme activity ~30%, requiring 50% f... | Pharmacogenomics | Established | |
| rs75017182 | DPYD HapB3 (c.1129-5923C>G) | Deep intronic splice-site variant that is the functional driver of the DPYD H... | Pharmacogenomics | Established |