Tag

Drug Metabolism

120 genetic variants with this tag.

RSID	Gene	Description	Category
rs1042713	ADRB2 Arg16Gly	Beta-2 adrenergic receptor variant affecting receptor downregulation, exercis...	Fitness & Body	Drug Metabolism	Strong
rs10509679	CYP2C9	Intronic CYP2C9 haplotype tag associated with increased ischemic stroke risk ...	Coronary Artery Disease & Atherosclerosis	Drug Metabolism	Emerging
rs10305492	GLP1R A316T	Rare protective missense variant in the GLP-1 receptor associated with lower ...	Pharmacogenomics	Drug Metabolism	Strong
rs10403955	CYP2B6	Intronic CYP2B6 haplotype-tagging variant associated with altered plasma conc...	Pharmacogenomics	Drug Metabolism	Moderate
rs11854484	SLC28A2 SLC28A2 Pro22Leu	Missense variant in the concentrative nucleoside transporter 2 (CNT2) gene th...	Vitamins & Nutrient Absorption	Drug Metabolism	Moderate
rs1045642	ABCB1 C3435T	Synonymous variant in P-glycoprotein affecting drug efflux pump expression an...	Pharmacogenomics	Drug Metabolism	Moderate
rs1057910	CYP2C9 *3	No-function CYP2C9 variant with major warfarin implications	Pharmacogenomics	Drug Metabolism	Established
rs1058164	CYP2D6	Synonymous CYP2D6 variant that promotes exon 3 skipping, reducing functional ...	Pharmacogenomics	Drug Metabolism	Moderate
rs1058932	CYP2C8	CYP2C8 3-prime UTR variant associated with cardiovascular risk via altered ep...	Pharmacogenomics	Drug Metabolism	Moderate
rs2032582	ABCB1 G2677T/A (Ser893Ala/Thr)	Triallelic missense variant in the P-glycoprotein efflux pump that reduces th...	Gamete Quality & DNA Repair	Drug Metabolism	Moderate
rs1065852	CYP2D6 *10	Decreased function CYP2D6 variant common in Asian populations	Pharmacogenomics	Drug Metabolism	Established
rs1080985	CYP2D6 *2A promoter	CYP2D6 promoter variant (-1584C>G) that reduces enzyme expression; the C alle...	Pharmacogenomics	Drug Metabolism	Strong
rs1800629	TNF -308 G>A	Promoter variant increasing TNF-alpha production approximately 2-fold, associ...	TNF, NF-kB & Inflammatory Cytokines	Drug Metabolism	Strong
rs1051296	SLC19A1 SLC19A1 variant (RFC1)	3'UTR variant in the reduced folate carrier that affects miR-595 binding, alt...	Methylation & Detox	Drug Metabolism	Moderate
rs1113129	CYP2C8	Intronic tagging SNP for CYP2C8 haplotype C, a low-activity haplotype associa...	Pharmacogenomics	Drug Metabolism	Moderate
rs1051298	SLC19A1 SLC19A1 3'UTR variant (c.*746C>T)	3'UTR variant in the folate transporter gene affecting pemetrexed toxicity ri...	Methylation & Detox	Drug Metabolism	Moderate
rs1142345	TPMT *3C	No-function variant causing deficient thiopurine methylation; most common TPM...	Pharmacogenomics	Drug Metabolism	Established
rs116855232	NUDT15 Arg139Cys	Nucleotide diphosphatase that inactivates toxic thiopurine metabolites; reduc...	Pharmacogenomics	Drug Metabolism	Established
rs2968864	KCNH2 KCNH2 QT interval GWAS variant (7q36.1)	Intergenic variant at 7q36.1 near KCNH2 (hERG potassium channel) that modulat...	Arrhythmia & Heart Rhythm	Drug Metabolism	Strong
rs12248560	CYP2C19 *17	Increased function CYP2C19 variant - rapid/ultrarapid metabolizer	Pharmacogenomics	Drug Metabolism	Established
rs12721627	CYP3A4 *16	Missense variant reducing CYP3A4 enzyme activity by 50–74% depending on subst...	Pharmacogenomics	Drug Metabolism	Moderate
rs12721629	CYP3A4 *16B	Missense variant causing substrate-dependent reduced CYP3A4 activity, most pr...	Pharmacogenomics	Drug Metabolism	Moderate
rs12044852	CD58	Intronic CD58 variant in strong LD with rs2300747 (r²=0.929); the C allele dr...	Neurology & Cognition	Drug Metabolism	Strong
rs12980275	IFNL3	Downstream variant near IFNL3 — third IL28B locus predictor of hepatitis C sp...	Pharmacogenomics	Drug Metabolism	Established
rs1341162	CYP2C8	Intronic CYP2C8 haplotype-tagging variant linked to altered drug metabolism c...	Pharmacogenomics	Drug Metabolism	Moderate
rs1341164	CYP2C8	Intronic CYP2C8 variant tagging a haplotype associated with altered taxane dr...	Pharmacogenomics	Drug Metabolism	Emerging
rs2231137	ABCG2 ABCG2 V12M (Val12Met)	Missense variant in the ABCG2 transporter that impairs membrane localization ...	Coronary Artery Disease & Atherosclerosis	Drug Metabolism	Moderate
rs2413775	SLC28A2	Promoter variant that increases SLC28A2/CNT2 transcription via enhanced HNF1 ...	Vitamins & Nutrient Absorption	Drug Metabolism	Emerging
rs16947	CYP2D6 *2	Common CYP2D6 variant defining the *2 allele; previously considered normal-fu...	Pharmacogenomics	Drug Metabolism	Strong
rs1208	NAT2 R268K	NAT2 acetylation speed tag SNP - marks rapid vs slow acetylator haplotypes	Methylation & Detox	Drug Metabolism	Established
rs17002852	CYP2D6	Synonymous CYP2D6 variant that causes allele dropout in standard CYP2D6*3 gen...	Pharmacogenomics	Drug Metabolism	Moderate
rs12659	SLC19A1	Synonymous variant in the folate transporter SLC19A1 — a haplotype tag linked...	Methylation & Detox	Drug Metabolism	Emerging
rs1799853	CYP2C9 *2	Decreased function variant affecting warfarin, phenytoin, and NSAIDs	Pharmacogenomics	Drug Metabolism	Established
rs33980500	TRAF3IP2 D10N	Missense variant in Act1 that abolishes IL-17 signaling by disrupting TRAF6 b...	Psoriasis & Spondyloarthropathy	Drug Metabolism	Strong
rs1799971	OPRM1 A118G	Mu-opioid receptor variant affecting opioid response, pain sensitivity, and p...	Pharmacogenomics	Drug Metabolism	Strong
rs6742078	UGT1A10	Intronic variant in the UGT1A gene cluster (chromosome 2q37) strongly associa...	Uric Acid & Kidney Function	Drug Metabolism	Strong
rs1800460	TPMT *3B	Decreased-function variant causing reduced thiopurine methylation; pairs with...	Pharmacogenomics	Drug Metabolism	Established
rs5186	AGTR1 A1166C	3' UTR variant in angiotensin II type 1 receptor affecting blood pressure reg...	Blood Pressure & Hypertension	Drug Metabolism	Moderate
rs1800462	TPMT *2	The original TPMT deficiency allele — a no-function star allele causing ~100-...	Pharmacogenomics	Drug Metabolism	Established
rs1801272	CYP2A6 *2 (L160H)	Loss-of-function CYP2A6 variant that abolishes nicotine metabolism, slowing c...	Pharmacogenomics	Drug Metabolism	Established
rs1934951	CYP2C8	Intronic CYP2C8 variant associated with paclitaxel-induced toxicity and bisph...	Pharmacogenomics	Drug Metabolism	Moderate
rs72551348	UGT1A1 Q331R	Rare pathogenic missense variant in the UGT1A1 gene that severely reduces bil...	Uric Acid & Kidney Function	Drug Metabolism	Strong
rs1934953	CYP2C8	Intronic CYP2C8 variant linked to epoxygenase pathway activity, hypertension ...	Pharmacogenomics	Drug Metabolism	Emerging
rs1934963	CYP2C9	Deep intronic CYP2C9 variant associated with altered drug response to sulfony...	Pharmacogenomics	Drug Metabolism	Emerging
rs7594951	SRD5A2 SRD5A2 intron 4 regulatory variant	Deep intronic variant in the testosterone-to-DHT converting enzyme; the minor...	Reproductive Hormones	Drug Metabolism	Emerging
rs1934967	CYP2C9	Intronic CYP2C9 haplotype tag associated with altered warfarin sensitivity an...	Pharmacogenomics	Drug Metabolism	Moderate
rs2066853	AHR Arg554Lys	Aryl hydrocarbon receptor variant in the transactivation domain that alters A...	Hormones & Sleep	Drug Metabolism	Moderate
rs1799930	NAT2 R197Q	Slow acetylator variant affecting Phase II detoxification capacity	Methylation & Detox	Drug Metabolism	Established
rs1934980	CYP2C8	Intronic CYP2C8 variant linked to altered enzyme expression and associated wi...	Pharmacogenomics	Drug Metabolism	Moderate
rs2031920	CYP2E1 *5B (RsaI)	Promoter variant increasing CYP2E1 inducibility, elevating oxidative stress f...	Pharmacogenomics	Drug Metabolism	Moderate
rs2069526	CYP1A2 -739T>G	Intronic CYP1A2 variant near the 5' end; G allele is associated with altered ...	Pharmacogenomics	Drug Metabolism	Emerging
rs2070672	CYP2E1	CYP2E1 promoter variant affecting enzyme expression and susceptibility to ace...	Pharmacogenomics	Drug Metabolism	Moderate
rs2070676	CYP2E1	Intronic CYP2E1 variant tagging the *1B haplotype; C allele marks reduced CYP...	Pharmacogenomics	Drug Metabolism	Moderate
rs2108622	CYP4F2 V433M (*3)	Reduces vitamin K metabolism, requiring higher warfarin doses to achieve anti...	Pharmacogenomics	Drug Metabolism	Established
rs1800693	TNFRSF1A	Splice-region variant in TNFR1 that generates a soluble Δ6 isoform mimicking ...	Neurology & Cognition	Drug Metabolism	Strong
rs2231142	ABCG2 Q141K	Reduces ABCG2 transporter function affecting rosuvastatin levels and uric aci...	Pharmacogenomics	Drug Metabolism	Established
rs6311	HTR2A -1438G>A	Regulatory variant in serotonin 2A receptor gene affecting SSRI side effects ...	Mood & Behavior	Drug Metabolism	Moderate
rs1801280	NAT2 I114T	Phase II detoxification - acetylation of aromatic amines and certain medications	Methylation & Detox	Drug Metabolism	Established
rs2242480	CYP3A4 *1G	Intronic variant in CYP3A4 intron 10 that upregulates a suppressive lncRNA, r...	Pharmacogenomics	Drug Metabolism	Strong
rs2246709	CYP3A4	Intronic CYP3A4 variant associated with altered drug clearance, affecting met...	Pharmacogenomics	Drug Metabolism	Moderate
rs2289669	SLC47A1 MATE1 G-1853A	Intronic variant in MATE1, the renal and hepatic metformin efflux transporter...	Pharmacogenomics	Drug Metabolism	Moderate
rs2480256	CYP2E1	3' UTR variant that increases CYP2E1 expression, raising hepatotoxicity risk ...	Pharmacogenomics	Drug Metabolism	Moderate
rs2515641	CYP2E1	Synonymous exon-8 variant that reduces CYP2E1 mRNA and protein expression, al...	Pharmacogenomics	Drug Metabolism	Moderate
rs887829	UGT1A1 UGT1A1*80	Promoter variant in UGT1A1 that tags the *28 reduced-expression haplotype; T ...	Vascular Inflammation & Remodeling	Drug Metabolism	Strong
rs2740574	CYP3A4 *1B -392A>G	Promoter variant affecting CYP3A4 expression, most common in African populations	Pharmacogenomics	Drug Metabolism	Moderate
rs28371706	CYP2D6 *17	Decreased-function CYP2D6 allele common in African populations, reducing meta...	Pharmacogenomics	Drug Metabolism	Established
rs28371725	CYP2D6 *41	Intronic splice variant causing decreased CYP2D6 enzyme activity through aber...	Pharmacogenomics	Drug Metabolism	Established
rs28371733	CYP2D6	Rare CYP2D6 stop-gain variant (Glu418Ter) that eliminates enzyme activity, ca...	Pharmacogenomics	Drug Metabolism	Established
rs28371759	CYP3A4 *18 (L293R)	Rare missense variant causing a Leu293Arg substitution in CYP3A4, associated ...	Pharmacogenomics	Drug Metabolism	Moderate
rs28399433	CYP2A6 *9 (TATA box)	Promoter variant that reduces CYP2A6 expression by ~50%, slowing nicotine met...	Pharmacogenomics	Drug Metabolism	Strong
rs28399444	CYP2A6 *7 (I471T)	CYP2A6*7 missense variant that nearly abolishes nicotine C-oxidase activity; ...	Pharmacogenomics	Drug Metabolism	Established
rs28695233	CYP2D6	Deep intronic CYP2D6 variant in intron 2 that serves as a haplotype tag in sp...	Pharmacogenomics	Drug Metabolism	Emerging
rs316019	SLC22A2 Ala270Ser	Reduces OCT2 organic cation transporter function in the kidney, lowering metf...	Pharmacogenomics	Drug Metabolism	Moderate
rs2838956	SLC19A1 RFC1 intronic variant	Intronic SLC19A1 variant that tags a haplotype affecting reduced folate carri...	Methylation & Detox	Drug Metabolism	Emerging
rs35599367	CYP3A4 *22	Intronic splice variant causing ~50% reduced CYP3A4 mRNA expression, affectin...	Pharmacogenomics	Drug Metabolism	Established
rs4410790	AHR	Regulatory variant 54 kb upstream of the aryl hydrocarbon receptor gene; the ...	Hormones & Sleep	Drug Metabolism	Strong
rs373489637	CYP2B6 V183G	Near-complete loss-of-function CYP2B6 variant causing severely impaired metab...	Pharmacogenomics	Drug Metabolism	Moderate
rs3745274	CYP2B6 516G>T	Decreased-function variant affecting metabolism of efavirenz, methadone, bupr...	Pharmacogenomics	Drug Metabolism	Established
rs3758581	CYP2C19 Ile331Val (CYP2C19*1B)	Common CYP2C19 missense variant defining the *1B allele; the G (Val331) allel...	Pharmacogenomics	Drug Metabolism	Moderate
rs3788189	SLC19A1 SLC19A1 IVS2 variant	Intronic variant in the folate transporter gene associated with pemetrexed tr...	Methylation & Detox	Drug Metabolism	Emerging
rs3791033	KDM4A	Intronic variant in KDM4A histone demethylase associated with problematic opi...	Pharmacogenomics	Drug Metabolism	Moderate
rs523349	SRD5A2 V89L	Missense variant reducing 5-alpha-reductase type 2 enzyme activity, affecting...	Hormones & Sleep	Drug Metabolism	Moderate
rs3814637	CYP2C19	Upstream CYP2C19 variant associated with altered R-warfarin clearance and inc...	Pharmacogenomics	Drug Metabolism	Moderate
rs5030868	G6PD G6PD Mediterranean	Severe Class II G6PD deficiency variant (c.563C>T, p.Ser188Phe) causing less ...	Blood Sugar & Diabetes	Drug Metabolism	Established
rs3892097	CYP2D6 *4	CYP2D6 *4 splice-defect null allele — the most common loss-of-function CYP2D6...	Pharmacogenomics	Drug Metabolism	Established
rs3918290	DPYD *2A	Most critical pharmacogenomic variant causing complete loss of DPD enzyme fun...	Pharmacogenomics	Drug Metabolism	Established
rs5219	KCNJ11 E23K	Controls the pancreatic beta-cell potassium channel that regulates insulin se...	Blood Sugar & Diabetes	Drug Metabolism	Strong
rs4148323	UGT1A1 *6 Gly71Arg	Phase II glucuronidation enzyme that metabolizes bilirubin and many drugs inc...	Pharmacogenomics	Drug Metabolism	Established
rs4149056	SLCO1B1 *5	Statin transport - affects muscle side effect risk with statins	Pharmacogenomics	Drug Metabolism	Established
rs4244285	CYP2C19 *2	No-function CYP2C19 variant affecting PPIs, clopidogrel, and some antidepress...	Pharmacogenomics	Drug Metabolism	Established
rs700518	CYP19A1 Val80	Synonymous variant in aromatase gene affecting estrogen production, bone dens...	Hormones & Sleep	Drug Metabolism	Strong
rs4646438	CYP3A4 *6 (17776insA / frameshift)	Frameshift insertion in CYP3A4 exon 9 that produces a truncated, non-function...	Pharmacogenomics	Drug Metabolism	Strong
rs4646976	CYP2E1	CYP2E1 intronic haplotype tag — affects enzyme activity and susceptibility to...	Pharmacogenomics	Drug Metabolism	Moderate
rs4986893	CYP2C19 *3	No-function CYP2C19 stop-gain variant — second most common loss-of-function a...	Pharmacogenomics	Drug Metabolism	Established
rs4997557	CYP2A6	Rare CYP2A6 missense variant (p.Thr294Ile) that likely reduces nicotine-metab...	Pharmacogenomics	Drug Metabolism	Emerging
rs5030655	CYP2D6 *6	Frameshift deletion causing no enzyme function, defining poor metabolizer sta...	Pharmacogenomics	Drug Metabolism	Established
rs55785340	CYP3A4 *2	Missense variant reducing CYP3A4-mediated nifedipine clearance, causing eleva...	Pharmacogenomics	Drug Metabolism	Moderate
rs55886062	DPYD *13	No-function DPYD star allele (I560S) causing severe DPD deficiency; one of fo...	Pharmacogenomics	Drug Metabolism	Established
rs55897648	CYP2E1 *3 (Val389Ile)	CYP2E1*3 missense variant with no demonstrated change in enzyme activity for ...	Pharmacogenomics	Drug Metabolism	Emerging
rs56038477	DPYD HapB3 tag (c.1236G>A, E412E)	Synonymous exon-11 tag SNP for the DPYD HapB3 haplotype; benign on its own bu...	Pharmacogenomics	Drug Metabolism	Established
rs76723693	G6PD G6PD Nefza (c.968T>C)	Missense variant in glucose-6-phosphate dehydrogenase causing Class III G6PD ...	Blood Sugar & Diabetes	Drug Metabolism	Strong
rs58440431	CYP2D6	Intronic CYP2D6 variant tagging East Asian *10-lineage suballeles; the C alle...	Pharmacogenomics	Drug Metabolism	Strong
rs622342	SLC22A1 A>C	Intronic variant in the OCT1 organic cation transporter reducing hepatic metf...	Pharmacogenomics	Drug Metabolism	Moderate
rs6413419	CYP2E1 *4 (V179I)	Missense variant (Val179Ile) defining the CYP2E1*4 allele; associated with al...	Pharmacogenomics	Drug Metabolism	Emerging
rs671	ALDH2 *2	Alcohol metabolism - flush reaction and cancer risk	Pharmacogenomics	Drug Metabolism	Established
rs67376798	DPYD D949V	Decreased-function variant reducing DPD enzyme activity ~30%, requiring 50% f...	Pharmacogenomics	Drug Metabolism	Established
rs67784355	CYP3A4 *11 (Thr363Met)	Rare missense variant in CYP3A4 that reduces protein expression and enzymatic...	Pharmacogenomics	Drug Metabolism	Emerging
rs67807361	CYP2C9 p.Leu19Ile	Rare CYP2C9 N-terminal missense variant of uncertain functional significance ...	Pharmacogenomics	Drug Metabolism	Emerging
rs71328650	CYP2D6	Intronic CYP2D6 haplotype tag variant (rs28371702 canonical form) associated ...	Pharmacogenomics	Drug Metabolism	Emerging
rs72547511	CYP1A2 CYP1A2*15 (Pro42Arg)	Rare CYP1A2 missense variant at the critical Pro42 position; nearly abolishes...	Pharmacogenomics	Drug Metabolism	Moderate
rs72547515	CYP1A2 *16 (Arg377Gln)	Nearly-inactive CYP1A2 missense variant — carriers have severely impaired met...	Pharmacogenomics	Drug Metabolism	Moderate
rs72547516	CYP1A2 Ile386Val	Rare CYP1A2 missense variant (Ile386Val) associated with potentially reduced ...	Pharmacogenomics	Drug Metabolism	Emerging
rs72547517	CYP1A2 *8	CYP1A2*8 — near-complete loss-of-function missense variant causing severely r...	Pharmacogenomics	Drug Metabolism	Strong
rs72549354	CYP2D6 *20	Frameshift insertion creating a null CYP2D6 allele; carriers cannot metaboliz...	Pharmacogenomics	Drug Metabolism	Established
rs75017182	DPYD HapB3 (c.1129-5923C>G)	Deep intronic splice-site variant that is the functional driver of the DPYD H...	Pharmacogenomics	Drug Metabolism	Established
rs762551	CYP1A2 *1F	CYP1A2 *1F intronic inducibility variant — defines fast vs slow caffeine meta...	Pharmacogenomics	Drug Metabolism	Strong
rs776746	CYP3A5 *3	Splice site variant creating a non-functional CYP3A5 enzyme, dramatically aff...	Pharmacogenomics	Drug Metabolism	Established
rs8099917	IFNL3	Intergenic variant upstream of IFNL3 — second major IL28B locus predictor of ...	Pharmacogenomics	Drug Metabolism	Established
rs8192780	CYP2E1	Downstream regulatory variant near CYP2E1 associated with nasopharyngeal carc...	Pharmacogenomics	Drug Metabolism	Emerging
rs9923231	VKORC1 -1639G>A	Warfarin sensitivity - determines initial dosing	Pharmacogenomics	Drug Metabolism	Established