Tag

Pharmacogenomics

15 genetic variants with this tag.

RSID	Gene	Description	Category
rs16947	CYP2D6 *2	Common CYP2D6 variant defining the *2 allele; previously considered normal-fu...	Pharmacogenomics	Pharmacogenomics Drug Metabolism Antidepressants	Strong
rs6511720	LDLR Intron 1	Common regulatory variant in the LDL receptor gene affecting LDLR expression,...	Heart & Inflammation	Cardiovascular Cholesterol Statins	Strong
rs25531	SLC6A4 A>G	Promoter SNP near 5-HTTLPR that modifies serotonin transporter expression and...	Brain & Mental Health	Mental Health Neurotransmitters Antidepressants	Moderate
rs5030655	CYP2D6 *6	Frameshift deletion causing no enzyme function, defining poor metabolizer sta...	Pharmacogenomics	Drug Metabolism Pain Medication Antidepressants	Established
rs28371725	CYP2D6 *41	Intronic splice variant causing decreased CYP2D6 enzyme activity through aber...	Pharmacogenomics	Drug Metabolism Pharmacogenomics Pain Medication	Established
rs776746	CYP3A5 *3	Splice site variant creating a non-functional CYP3A5 enzyme, dramatically aff...	Pharmacogenomics	Drug Metabolism Immunosuppressants Pharmacogenomics	Established
rs3918290	DPYD *2A	Most critical pharmacogenomic variant causing complete loss of DPD enzyme fun...	Pharmacogenomics	Drug Metabolism Pharmacogenomics Chemotherapy	Established
rs67376798	DPYD D949V	Decreased-function variant reducing DPD enzyme activity ~30%, requiring 50% f...	Pharmacogenomics	Drug Metabolism Pharmacogenomics Chemotherapy	Established
rs1142345	TPMT *3C	No-function variant causing deficient thiopurine methylation; most common TPM...	Pharmacogenomics	Drug Metabolism Immunosuppressants Blood Thinners	Established
rs1799971	OPRM1 A118G	Mu-opioid receptor variant affecting opioid response, pain sensitivity, and p...	Pharmacogenomics	Drug Metabolism Pain Medication Addiction	Moderate
rs1045642	ABCB1 C3435T	Synonymous variant in P-glycoprotein affecting drug efflux pump expression an...	Pharmacogenomics	Drug Metabolism Pharmacogenomics Immunosuppressants	Moderate
rs4148323	UGT1A1 *6 Gly71Arg	Phase II glucuronidation enzyme that metabolizes bilirubin and many drugs inc...	Pharmacogenomics	Pharmacogenomics Drug Metabolism Chemotherapy	Established
rs2740574	CYP3A4 *1B -392A>G	Promoter variant affecting CYP3A4 expression, most common in African populations	Pharmacogenomics	Drug Metabolism Pharmacogenomics Cancer Risk	Moderate
rs116855232	NUDT15 Arg139Cys	Nucleotide diphosphatase that inactivates toxic thiopurine metabolites; reduc...	Pharmacogenomics	Drug Metabolism Pharmacogenomics Chemotherapy	Established
rs5219	KCNJ11 E23K	Controls the pancreatic beta-cell potassium channel that regulates insulin se...	Nutrition & Metabolism	Diabetes Insulin Metabolic	Strong