Tag

Drug Metabolism

36 genetic variants with this tag.

RSID	Gene	Description	Category
rs3892097	CYP2D6 *4	Major enzyme for metabolizing ~25% of medications including opioids, antidepr...	Pharmacogenomics	Drug Metabolism Antidepressants Pain Medication	Established
rs1065852	CYP2D6 *10	Decreased function CYP2D6 variant common in Asian populations	Pharmacogenomics	Drug Metabolism Antidepressants Pain Medication	Established
rs4244285	CYP2C19 *2	No-function CYP2C19 variant affecting PPIs, clopidogrel, and some antidepress...	Pharmacogenomics	Drug Metabolism Blood Thinners Proton Pump Inhibitors	Established
rs1042713	ADRB2 Arg16Gly	Beta-2 adrenergic receptor variant affecting receptor downregulation, exercis...	Fitness & Body	Fitness Cardiovascular Beta-Agonist	Strong
rs12248560	CYP2C19 *17	Increased function CYP2C19 variant - rapid/ultrarapid metabolizer	Pharmacogenomics	Drug Metabolism Proton Pump Inhibitors Antidepressants	Established
rs700518	CYP19A1 Val80	Synonymous variant in aromatase gene affecting estrogen production, bone dens...	Hormones & Sleep	Hormones Estrogen Bone Health	Strong
rs1799853	CYP2C9 *2	Decreased function variant affecting warfarin, phenytoin, and NSAIDs	Pharmacogenomics	Drug Metabolism Warfarin Pain Medication	Established
rs1800629	TNF -308 G>A	Promoter variant increasing TNF-alpha production 2-3 fold, associated with au...	Immune & Gut	Immune & Autoimmune Inflammation Drug Metabolism	Strong
rs523349	SRD5A2 V89L	Missense variant reducing 5-alpha-reductase type 2 enzyme activity, affecting...	Hormones & Sleep	Hormones & Thyroid Testosterone Prostate	Moderate
rs1057910	CYP2C9 *3	No-function CYP2C9 variant with major warfarin implications	Pharmacogenomics	Drug Metabolism Warfarin Pain Medication	Established
rs5186	AGTR1 A1166C	3' UTR variant in angiotensin II type 1 receptor affecting blood pressure reg...	Heart & Inflammation	Cardiovascular Drug Metabolism Blood Thinners	Moderate
rs762551	CYP1A2 *1F	Caffeine metabolism - affects how quickly you process caffeine	Pharmacogenomics	Drug Metabolism Diet Cardiovascular	Strong
rs4149056	SLCO1B1 *5	Statin transport - affects muscle side effect risk with statins	Pharmacogenomics	Drug Metabolism Statins Cardiovascular	Established
rs6311	HTR2A -1438G>A	Regulatory variant in serotonin 2A receptor gene affecting SSRI side effects ...	Brain & Mental Health	Mental Health Antidepressants Neurotransmitters	Moderate
rs9923231	VKORC1 -1639G>A	Warfarin sensitivity - determines initial dosing	Pharmacogenomics	Drug Metabolism Warfarin Blood Thinners	Established
rs671	ALDH2 *2	Alcohol metabolism - flush reaction and cancer risk	Pharmacogenomics	Drug Metabolism Diet Detoxification	Established
rs16947	CYP2D6 *2	Common CYP2D6 variant defining the *2 allele; previously considered normal-fu...	Pharmacogenomics	Pharmacogenomics Drug Metabolism Antidepressants	Strong
rs5030655	CYP2D6 *6	Frameshift deletion causing no enzyme function, defining poor metabolizer sta...	Pharmacogenomics	Drug Metabolism Pain Medication Antidepressants	Established
rs2066853	AHR Arg554Lys	Aryl hydrocarbon receptor variant in the transactivation domain that alters A...	Hormones & Sleep	Sleep Circadian Caffeine	Moderate
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
rs3745274	CYP2B6 516G>T	Decreased-function variant affecting metabolism of efavirenz, methadone, bupr...	Pharmacogenomics	Drug Metabolism Antidepressants Pain Medication	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
rs2231142	ABCG2 Q141K	Reduces ABCG2 transporter function affecting rosuvastatin levels and uric aci...	Pharmacogenomics	Drug Metabolism Statins Cardiovascular	Established
rs2108622	CYP4F2 V433M (*3)	Reduces vitamin K metabolism, requiring higher warfarin doses to achieve anti...	Pharmacogenomics	Drug Metabolism Warfarin 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
rs1801280	NAT2 I114T	Phase II detoxification - acetylation of aromatic amines and certain medications	Methylation & Detox	Detoxification Acetylation Drug Metabolism	Established
rs1799930	NAT2 R197Q	Slow acetylator variant affecting Phase II detoxification capacity	Methylation & Detox	Detoxification Acetylation Drug Metabolism	Established
rs4148323	UGT1A1 *6 Gly71Arg	Phase II glucuronidation enzyme that metabolizes bilirubin and many drugs inc...	Pharmacogenomics	Pharmacogenomics Drug Metabolism Chemotherapy	Established
rs1208	NAT2 R268K	NAT2 acetylation speed tag SNP - marks rapid vs slow acetylator haplotypes	Methylation & Detox	Detoxification Acetylation Drug Metabolism	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