Research
Tag

Chemotherapy

14 genetic variants with this tag.

RSID Gene Description Category
rs1045642 ABCB1 C3435T Synonymous variant in P-glycoprotein affecting drug efflux pump expression an... Pharmacogenomics Moderate
rs1113129 CYP2C8 Intronic tagging SNP for CYP2C8 haplotype C, a low-activity haplotype associa... Pharmacogenomics Moderate
rs2303428 MSH2 Splice-region variant in MSH2 (c.2006-6T>C) located 6 bases upstream of exon ... Gamete Quality & DNA Repair Moderate
rs1051298 SLC19A1 SLC19A1 3'UTR variant (c.*746C>T) 3'UTR variant in the folate transporter gene affecting pemetrexed toxicity ri... Methylation & Detox Moderate
rs116855232 NUDT15 Arg139Cys Nucleotide diphosphatase that inactivates toxic thiopurine metabolites; reduc... Pharmacogenomics Established
rs12721629 CYP3A4 *16B Missense variant causing substrate-dependent reduced CYP3A4 activity, most pr... Pharmacogenomics Moderate
rs1341164 CYP2C8 Intronic CYP2C8 variant tagging a haplotype associated with altered taxane dr... Pharmacogenomics Emerging
rs1934951 CYP2C8 Intronic CYP2C8 variant associated with paclitaxel-induced toxicity and bisph... Pharmacogenomics Moderate
rs3918290 DPYD *2A Most critical pharmacogenomic variant causing complete loss of DPD enzyme fun... Pharmacogenomics Established
rs4148323 UGT1A1 *6 Gly71Arg Phase II glucuronidation enzyme that metabolizes bilirubin and many drugs inc... 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