Research
Tag

Cancer Treatment

21 genetic variants with this tag.

RSID Gene Description Category
rs1113129 CYP2C8 Intronic tagging SNP for CYP2C8 haplotype C, a low-activity haplotype associa... Pharmacogenomics 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
rs12721627 CYP3A4 *16 Missense variant reducing CYP3A4 enzyme activity by 50–74% depending on subst... Pharmacogenomics Moderate
rs12721629 CYP3A4 *16B Missense variant causing substrate-dependent reduced CYP3A4 activity, most pr... Pharmacogenomics Moderate
rs1341162 CYP2C8 Intronic CYP2C8 haplotype-tagging variant linked to altered drug metabolism c... Pharmacogenomics Moderate
rs1341164 CYP2C8 Intronic CYP2C8 variant tagging a haplotype associated with altered taxane dr... Pharmacogenomics Emerging
rs4775936 CYP19A1 CYP19A1 Promoter Region Variant (Aro1) Regulatory variant in the CYP19A1 aromatase gene that alters estrogen biosynt... Reproductive Hormones Moderate
rs1934951 CYP2C8 Intronic CYP2C8 variant associated with paclitaxel-induced toxicity and bisph... Pharmacogenomics Moderate
rs396991 FCGR3A V158F Missense variant in Fc gamma receptor IIIa (CD16a) that determines NK cell Ig... Innate Immunity & Infection Defense Strong
rs1934980 CYP2C8 Intronic CYP2C8 variant linked to altered enzyme expression and associated wi... Pharmacogenomics Moderate
rs28399433 CYP2A6 *9 (TATA box) Promoter variant that reduces CYP2A6 expression by ~50%, slowing nicotine met... Pharmacogenomics Strong
rs28399444 CYP2A6 *7 (I471T) CYP2A6*7 missense variant that nearly abolishes nicotine C-oxidase activity; ... Pharmacogenomics Established
rs3788189 SLC19A1 SLC19A1 IVS2 variant Intronic variant in the folate transporter gene associated with pemetrexed tr... Methylation & Detox Emerging
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
rs67784355 CYP3A4 *11 (Thr363Met) Rare missense variant in CYP3A4 that reduces protein expression and enzymatic... Pharmacogenomics Emerging
rs75017182 DPYD HapB3 (c.1129-5923C>G) Deep intronic splice-site variant that is the functional driver of the DPYD H... Pharmacogenomics Established