Research
Tag

Immunosuppressants

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
rs1142345 TPMT *3C No-function variant causing deficient thiopurine methylation; most common TPM... Pharmacogenomics Established
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
rs1800460 TPMT *3B Decreased-function variant causing reduced thiopurine methylation; pairs with... Pharmacogenomics Established
rs1800462 TPMT *2 The original TPMT deficiency allele — a no-function star allele causing ~100-... Pharmacogenomics Established
rs2242480 CYP3A4 *1G Intronic variant in CYP3A4 intron 10 that upregulates a suppressive lncRNA, r... Pharmacogenomics Strong
rs2246709 CYP3A4 Intronic CYP3A4 variant associated with altered drug clearance, affecting met... Pharmacogenomics Moderate
rs28371759 CYP3A4 *18 (L293R) Rare missense variant causing a Leu293Arg substitution in CYP3A4, associated ... Pharmacogenomics Moderate
rs35599367 CYP3A4 *22 Intronic splice variant causing ~50% reduced CYP3A4 mRNA expression, affectin... Pharmacogenomics Established
rs3745274 CYP2B6 516G>T Decreased-function variant affecting metabolism of efavirenz, methadone, bupr... Pharmacogenomics Established
rs4646438 CYP3A4 *6 (17776insA / frameshift) Frameshift insertion in CYP3A4 exon 9 that produces a truncated, non-function... Pharmacogenomics Strong
rs55785340 CYP3A4 *2 Missense variant reducing CYP3A4-mediated nifedipine clearance, causing eleva... Pharmacogenomics Moderate
rs776746 CYP3A5 *3 Splice site variant creating a non-functional CYP3A5 enzyme, dramatically aff... Pharmacogenomics Established