Tag

Pharmacogenomics

118 genetic variants with this tag.

RSID	Gene	Description	Category
rs1000940	RABEP1 RABEP1 Metabolic-Immune Regulatory Variant	Intronic variant in RABEP1 associated with fasting glucose modulation under p...	Autoimmune Tolerance & T-Cell Regulation	Pharmacogenomics	Emerging
rs1008899	NEDD4L	Intronic NEDD4L variant tagging isoforms with differing ENaC ubiquitination c...	Blood Pressure & Hypertension	Pharmacogenomics	Moderate
rs10305420	GLP1R Pro7Leu	GLP-1 receptor signal peptide variant that enhances semaglutide and tirzepati...	Pharmacogenomics	Pharmacogenomics	Moderate
rs10509679	CYP2C9	Intronic CYP2C9 haplotype tag associated with increased ischemic stroke risk ...	Coronary Artery Disease & Atherosclerosis	Pharmacogenomics	Emerging
rs10305492	GLP1R A316T	Rare protective missense variant in the GLP-1 receptor associated with lower ...	Pharmacogenomics	Pharmacogenomics	Strong
rs10403955	CYP2B6	Intronic CYP2B6 haplotype-tagging variant associated with altered plasma conc...	Pharmacogenomics	Pharmacogenomics	Moderate
rs11854484	SLC28A2 SLC28A2 Pro22Leu	Missense variant in the concentrative nucleoside transporter 2 (CNT2) gene th...	Vitamins & Nutrient Absorption	Pharmacogenomics	Moderate
rs1042044	GLP1R Leu260Phe	GLP-1 receptor variant in intracellular loop 2 that alters receptor surface e...	Pharmacogenomics	Pharmacogenomics	Moderate
rs12188300	IL12B	Near-gene variant at the IL12B locus associated with psoriasis risk through a...	Psoriasis & Spondyloarthropathy	Pharmacogenomics	Moderate
rs1045642	ABCB1 C3435T	Synonymous variant in P-glycoprotein affecting drug efflux pump expression an...	Pharmacogenomics	Pharmacogenomics	Moderate
rs1805123	KCNH2 K897T	Common KCNH2 missense variant that alters hERG potassium channel kinetics, sh...	Arrhythmia & Heart Rhythm	Pharmacogenomics	Strong
rs199473521	KCNH2 K595N	Ultra-rare KCNH2 missense variant substituting asparagine for lysine at posit...	Arrhythmia & Heart Rhythm	Pharmacogenomics	Moderate
rs1058164	CYP2D6	Synonymous CYP2D6 variant that promotes exon 3 skipping, reducing functional ...	Pharmacogenomics	Pharmacogenomics	Moderate
rs1058932	CYP2C8	CYP2C8 3-prime UTR variant associated with cardiovascular risk via altered ep...	Pharmacogenomics	Pharmacogenomics	Moderate
rs1800975	XPA A23G	5' UTR variant in the XPA DNA damage recognition gene that modulates nucleoti...	Cancer Risk	Pharmacogenomics	Strong
rs2032582	ABCB1 G2677T/A (Ser893Ala/Thr)	Triallelic missense variant in the P-glycoprotein efflux pump that reduces th...	Gamete Quality & DNA Repair	Pharmacogenomics	Moderate
rs11572325	CYP2J2	Intronic CYP2J2 variant associated with increased myocardial infarction risk ...	Vascular Inflammation & Remodeling	Pharmacogenomics	Moderate
rs28937317	SCN5A N1325S	Rare gain-of-function missense variant in the cardiac sodium channel Nav1.5 c...	Arrhythmia & Heart Rhythm	Pharmacogenomics	Established
rs1080985	CYP2D6 *2A promoter	CYP2D6 promoter variant (-1584C>G) that reduces enzyme expression; the C alle...	Pharmacogenomics	Pharmacogenomics	Strong
rs1113129	CYP2C8	Intronic tagging SNP for CYP2C8 haplotype C, a low-activity haplotype associa...	Pharmacogenomics	Pharmacogenomics	Moderate
rs1142345	TPMT *3C	No-function variant causing deficient thiopurine methylation; most common TPM...	Pharmacogenomics	Pharmacogenomics	Established
rs116855232	NUDT15 Arg139Cys	Nucleotide diphosphatase that inactivates toxic thiopurine metabolites; reduc...	Pharmacogenomics	Pharmacogenomics	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	Pharmacogenomics	Strong
rs2317676	ITGB3	3' UTR variant in the platelet glycoprotein IIIa gene (ITGB3/GPIIIa) that dis...	Von Willebrand & Anticoagulant Proteins	Pharmacogenomics	Moderate
rs12721627	CYP3A4 *16	Missense variant reducing CYP3A4 enzyme activity by 50–74% depending on subst...	Pharmacogenomics	Pharmacogenomics	Moderate
rs12721629	CYP3A4 *16B	Missense variant causing substrate-dependent reduced CYP3A4 activity, most pr...	Pharmacogenomics	Pharmacogenomics	Moderate
rs2293275	LHCGR Asn312Ser (N312S)	Affects LH/hCG receptor sensitivity near a glycosylation site, influencing ov...	Fertility & Ovarian Function	Pharmacogenomics	Strong
rs1341162	CYP2C8	Intronic CYP2C8 haplotype-tagging variant linked to altered drug metabolism c...	Pharmacogenomics	Pharmacogenomics	Moderate
rs20455	KIF6 Trp719Arg	Missense variant in kinesin family member 6; the Arg allele was associated wi...	Coronary Artery Disease & Atherosclerosis	Pharmacogenomics	Moderate
rs1341164	CYP2C8	Intronic CYP2C8 variant tagging a haplotype associated with altered taxane dr...	Pharmacogenomics	Pharmacogenomics	Emerging
rs2413775	SLC28A2	Promoter variant that increases SLC28A2/CNT2 transcription via enhanced HNF1 ...	Vitamins & Nutrient Absorption	Pharmacogenomics	Emerging
rs5925	LDLR LDLR Expression Co-variant	Synonymous variant in LDLR exon 13 that modulates mRNA splicing efficiency in...	Atherogenic Lipoproteins	Pharmacogenomics	Moderate
rs16947	CYP2D6 *2	Common CYP2D6 variant defining the *2 allele; previously considered normal-fu...	Pharmacogenomics	Pharmacogenomics	Strong
rs6008845	PPARA PPARA intronic C/T	Regulatory PPARA variant where TT homozygotes with type 2 diabetes experience...	Atherogenic Lipoproteins	Pharmacogenomics	Strong
rs17002852	CYP2D6	Synonymous CYP2D6 variant that causes allele dropout in standard CYP2D6*3 gen...	Pharmacogenomics	Pharmacogenomics	Moderate
rs6511720	LDLR Intron 1	Common regulatory variant in the LDL receptor gene affecting LDLR expression,...	Atherogenic Lipoproteins	Pharmacogenomics	Strong
rs1799971	OPRM1 A118G	Mu-opioid receptor variant affecting opioid response, pain sensitivity, and p...	Pharmacogenomics	Pharmacogenomics	Strong
rs25531	SLC6A4 A>G	Promoter SNP near 5-HTTLPR that modifies serotonin transporter expression and...	Mood & Behavior	Pharmacogenomics	Moderate
rs1800460	TPMT *3B	Decreased-function variant causing reduced thiopurine methylation; pairs with...	Pharmacogenomics	Pharmacogenomics	Established
rs1800462	TPMT *2	The original TPMT deficiency allele — a no-function star allele causing ~100-...	Pharmacogenomics	Pharmacogenomics	Established
rs1801272	CYP2A6 *2 (L160H)	Loss-of-function CYP2A6 variant that abolishes nicotine metabolism, slowing c...	Pharmacogenomics	Pharmacogenomics	Established
rs489693	MC4R MC4R AIWG variant	Intergenic variant near MC4R with genome-wide significant association with an...	Appetite & Obesity	Pharmacogenomics	Strong
rs1934951	CYP2C8	Intronic CYP2C8 variant associated with paclitaxel-induced toxicity and bisph...	Pharmacogenomics	Pharmacogenomics	Moderate
rs72551348	UGT1A1 Q331R	Rare pathogenic missense variant in the UGT1A1 gene that severely reduces bil...	Uric Acid & Kidney Function	Pharmacogenomics	Strong
rs1934953	CYP2C8	Intronic CYP2C8 variant linked to epoxygenase pathway activity, hypertension ...	Pharmacogenomics	Pharmacogenomics	Emerging
rs396991	FCGR3A V158F	Missense variant in Fc gamma receptor IIIa (CD16a) that determines NK cell Ig...	Innate Immunity & Infection Defense	Pharmacogenomics	Strong
rs1934963	CYP2C9	Deep intronic CYP2C9 variant associated with altered drug response to sulfony...	Pharmacogenomics	Pharmacogenomics	Emerging
rs1934967	CYP2C9	Intronic CYP2C9 haplotype tag associated with altered warfarin sensitivity an...	Pharmacogenomics	Pharmacogenomics	Moderate
rs3846662	HMGCR HMGCR Intron 13 Splice Variant	Intronic HMGCR variant that modulates alternative splicing of exon 13, produc...	Cholesterol & Lipoproteins	Pharmacogenomics	Moderate
rs1934980	CYP2C8	Intronic CYP2C8 variant linked to altered enzyme expression and associated wi...	Pharmacogenomics	Pharmacogenomics	Moderate
rs3846663	HMGCR HMGCR Exon 13 Haplotype Tag	Intronic HMGCR variant that tags a haplotype influencing exon 13 alternative ...	Cholesterol & Lipoproteins	Pharmacogenomics	Strong
rs2069526	CYP1A2 -739T>G	Intronic CYP1A2 variant near the 5' end; G allele is associated with altered ...	Pharmacogenomics	Pharmacogenomics	Emerging
rs2070672	CYP2E1	CYP2E1 promoter variant affecting enzyme expression and susceptibility to ace...	Pharmacogenomics	Pharmacogenomics	Moderate
rs2070676	CYP2E1	Intronic CYP2E1 variant tagging the *1B haplotype; C allele marks reduced CYP...	Pharmacogenomics	Pharmacogenomics	Moderate
rs6295	HTR1A C-1019G	Functional promoter variant in the serotonin 1A receptor gene that increases ...	Mood & Behavior	Pharmacogenomics	Strong
rs2242480	CYP3A4 *1G	Intronic variant in CYP3A4 intron 10 that upregulates a suppressive lncRNA, r...	Pharmacogenomics	Pharmacogenomics	Strong
rs2246709	CYP3A4	Intronic CYP3A4 variant associated with altered drug clearance, affecting met...	Pharmacogenomics	Pharmacogenomics	Moderate
rs2280275	CYP2J2	Intronic variant in CYP2J2 that tags reduced epoxyeicosatrienoic acid (EET) p...	Pharmacogenomics	Pharmacogenomics	Moderate
rs2289669	SLC47A1 MATE1 G-1853A	Intronic variant in MATE1, the renal and hepatic metformin efflux transporter...	Pharmacogenomics	Pharmacogenomics	Moderate
rs2480256	CYP2E1	3' UTR variant that increases CYP2E1 expression, raising hepatotoxicity risk ...	Pharmacogenomics	Pharmacogenomics	Moderate
rs8087522	MC4R MC4R A/G (rs8087522)	Upstream regulatory variant near MC4R that may create a transcription factor ...	Appetite & Obesity	Pharmacogenomics	Emerging
rs2515641	CYP2E1	Synonymous exon-8 variant that reduces CYP2E1 mRNA and protein expression, al...	Pharmacogenomics	Pharmacogenomics	Moderate
rs887829	UGT1A1 UGT1A1*80	Promoter variant in UGT1A1 that tags the *28 reduced-expression haplotype; T ...	Vascular Inflammation & Remodeling	Pharmacogenomics	Strong
rs2740574	CYP3A4 *1B -392A>G	Promoter variant affecting CYP3A4 expression, most common in African populations	Pharmacogenomics	Pharmacogenomics	Moderate
rs63749869	RYR1 R4861H (Arg4861His)	RYR1 missense variant causing malignant hyperthermia susceptibility and centr...	Fitness & Body	Pharmacogenomics	Established
rs28371706	CYP2D6 *17	Decreased-function CYP2D6 allele common in African populations, reducing meta...	Pharmacogenomics	Pharmacogenomics	Established
rs78707713	TSPAN15	Intronic TSPAN15 variant that modulates ADAM10-mediated shedding of GPVI, the...	Coronary Artery Disease & Atherosclerosis	Pharmacogenomics	Strong
rs28371725	CYP2D6 *41	Intronic splice variant causing decreased CYP2D6 enzyme activity through aber...	Pharmacogenomics	Pharmacogenomics	Established
rs28371733	CYP2D6	Rare CYP2D6 stop-gain variant (Glu418Ter) that eliminates enzyme activity, ca...	Pharmacogenomics	Pharmacogenomics	Established
rs28371759	CYP3A4 *18 (L293R)	Rare missense variant causing a Leu293Arg substitution in CYP3A4, associated ...	Pharmacogenomics	Pharmacogenomics	Moderate
rs28399433	CYP2A6 *9 (TATA box)	Promoter variant that reduces CYP2A6 expression by ~50%, slowing nicotine met...	Pharmacogenomics	Pharmacogenomics	Strong
rs28399444	CYP2A6 *7 (I471T)	CYP2A6*7 missense variant that nearly abolishes nicotine C-oxidase activity; ...	Pharmacogenomics	Pharmacogenomics	Established
rs28695233	CYP2D6	Deep intronic CYP2D6 variant in intron 2 that serves as a haplotype tag in sp...	Pharmacogenomics	Pharmacogenomics	Emerging
rs2653349	HCRTR2 Ile308Val	Missense variant at position 308 of the orexin receptor 2 protein; the minor ...	Neurology & Cognition	Pharmacogenomics	Strong
rs316019	SLC22A2 Ala270Ser	Reduces OCT2 organic cation transporter function in the kidney, lowering metf...	Pharmacogenomics	Pharmacogenomics	Moderate
rs35599367	CYP3A4 *22	Intronic splice variant causing ~50% reduced CYP3A4 mRNA expression, affectin...	Pharmacogenomics	Pharmacogenomics	Established
rs368234815	IFNL4 ss469415590 (TT/ΔG)	Causal frameshift polymorphism controlling IFNL4 protein production; the ΔG a...	Pharmacogenomics	Pharmacogenomics	Established
rs373489637	CYP2B6 V183G	Near-complete loss-of-function CYP2B6 variant causing severely impaired metab...	Pharmacogenomics	Pharmacogenomics	Moderate
rs3758581	CYP2C19 Ile331Val (CYP2C19*1B)	Common CYP2C19 missense variant defining the *1B allele; the G (Val331) allel...	Pharmacogenomics	Pharmacogenomics	Moderate
rs3765467	GLP1R Arg131Gln	Missense variant in the GLP-1 receptor that alters drug response to GLP-1 ago...	Pharmacogenomics	Pharmacogenomics	Moderate
rs3788189	SLC19A1 SLC19A1 IVS2 variant	Intronic variant in the folate transporter gene associated with pemetrexed tr...	Methylation & Detox	Pharmacogenomics	Emerging
rs3791033	KDM4A	Intronic variant in KDM4A histone demethylase associated with problematic opi...	Pharmacogenomics	Pharmacogenomics	Moderate
rs3814637	CYP2C19	Upstream CYP2C19 variant associated with altered R-warfarin clearance and inc...	Pharmacogenomics	Pharmacogenomics	Moderate
rs5030868	G6PD G6PD Mediterranean	Severe Class II G6PD deficiency variant (c.563C>T, p.Ser188Phe) causing less ...	Blood Sugar & Diabetes	Pharmacogenomics	Established
rs3918290	DPYD *2A	Most critical pharmacogenomic variant causing complete loss of DPD enzyme fun...	Pharmacogenomics	Pharmacogenomics	Established
rs5219	KCNJ11 E23K	Controls the pancreatic beta-cell potassium channel that regulates insulin se...	Blood Sugar & Diabetes	Pharmacogenomics	Strong
rs4148323	UGT1A1 *6 Gly71Arg	Phase II glucuronidation enzyme that metabolizes bilirubin and many drugs inc...	Pharmacogenomics	Pharmacogenomics	Established
rs6166	FSHR Asn680Ser (N680S)	Affects FSH receptor sensitivity, determining ovarian response to FSH stimula...	Hormones & Sleep	Pharmacogenomics	Strong
rs4684059	HRH1	Intronic variant in the histamine H1 receptor gene associated with altered re...	Methylation & Detox	Pharmacogenomics	Emerging
rs4646438	CYP3A4 *6 (17776insA / frameshift)	Frameshift insertion in CYP3A4 exon 9 that produces a truncated, non-function...	Pharmacogenomics	Pharmacogenomics	Strong
rs4646976	CYP2E1	CYP2E1 intronic haplotype tag — affects enzyme activity and susceptibility to...	Pharmacogenomics	Pharmacogenomics	Moderate
rs4997557	CYP2A6	Rare CYP2A6 missense variant (p.Thr294Ile) that likely reduces nicotine-metab...	Pharmacogenomics	Pharmacogenomics	Emerging
rs5030655	CYP2D6 *6	Frameshift deletion causing no enzyme function, defining poor metabolizer sta...	Pharmacogenomics	Pharmacogenomics	Established
rs55785340	CYP3A4 *2	Missense variant reducing CYP3A4-mediated nifedipine clearance, causing eleva...	Pharmacogenomics	Pharmacogenomics	Moderate
rs55886062	DPYD *13	No-function DPYD star allele (I560S) causing severe DPD deficiency; one of fo...	Pharmacogenomics	Pharmacogenomics	Established
rs55897648	CYP2E1 *3 (Val389Ile)	CYP2E1*3 missense variant with no demonstrated change in enzyme activity for ...	Pharmacogenomics	Pharmacogenomics	Emerging
rs7202877	CTRB1	Intergenic variant near CTRB1/CTRB2 that regulates chymotrypsinogen expressio...	Blood Sugar & Diabetes	Pharmacogenomics	Strong
rs56038477	DPYD HapB3 tag (c.1236G>A, E412E)	Synonymous exon-11 tag SNP for the DPYD HapB3 haplotype; benign on its own bu...	Pharmacogenomics	Pharmacogenomics	Established
rs76723693	G6PD G6PD Nefza (c.968T>C)	Missense variant in glucose-6-phosphate dehydrogenase causing Class III G6PD ...	Blood Sugar & Diabetes	Pharmacogenomics	Strong
rs58194899	EIPR1	Intronic variant in EIPR1 (endosomal trafficking protein) associated with pai...	Pharmacogenomics	Pharmacogenomics	Emerging
rs58440431	CYP2D6	Intronic CYP2D6 variant tagging East Asian *10-lineage suballeles; the C alle...	Pharmacogenomics	Pharmacogenomics	Strong
rs622342	SLC22A1 A>C	Intronic variant in the OCT1 organic cation transporter reducing hepatic metf...	Pharmacogenomics	Pharmacogenomics	Moderate
rs640561	LRRIQ3	Intergenic variant near LRRIQ3 associated with problematic opioid prescriptio...	Pharmacogenomics	Pharmacogenomics	Emerging
rs6413419	CYP2E1 *4 (V179I)	Missense variant (Val179Ile) defining the CYP2E1*4 allele; associated with al...	Pharmacogenomics	Pharmacogenomics	Emerging
rs67376798	DPYD D949V	Decreased-function variant reducing DPD enzyme activity ~30%, requiring 50% f...	Pharmacogenomics	Pharmacogenomics	Established
rs67784355	CYP3A4 *11 (Thr363Met)	Rare missense variant in CYP3A4 that reduces protein expression and enzymatic...	Pharmacogenomics	Pharmacogenomics	Emerging
rs67807361	CYP2C9 p.Leu19Ile	Rare CYP2C9 N-terminal missense variant of uncertain functional significance ...	Pharmacogenomics	Pharmacogenomics	Emerging
rs6923761	GLP1R Gly168Ser	GLP-1 receptor variant that alters response to GLP-1 agonist medications used...	Pharmacogenomics	Pharmacogenomics	Moderate
rs71328650	CYP2D6	Intronic CYP2D6 haplotype tag variant (rs28371702 canonical form) associated ...	Pharmacogenomics	Pharmacogenomics	Emerging
rs72547511	CYP1A2 CYP1A2*15 (Pro42Arg)	Rare CYP1A2 missense variant at the critical Pro42 position; nearly abolishes...	Pharmacogenomics	Pharmacogenomics	Moderate
rs72547515	CYP1A2 *16 (Arg377Gln)	Nearly-inactive CYP1A2 missense variant — carriers have severely impaired met...	Pharmacogenomics	Pharmacogenomics	Moderate
rs6795209	HTR1F	Intergenic variant at the HTR1F locus on chromosome 3; the minor A allele inc...	Neurology & Cognition	Pharmacogenomics	Strong
rs72547516	CYP1A2 Ile386Val	Rare CYP1A2 missense variant (Ile386Val) associated with potentially reduced ...	Pharmacogenomics	Pharmacogenomics	Emerging
rs72547517	CYP1A2 *8	CYP1A2*8 — near-complete loss-of-function missense variant causing severely r...	Pharmacogenomics	Pharmacogenomics	Strong
rs72549354	CYP2D6 *20	Frameshift insertion creating a null CYP2D6 allele; carriers cannot metaboliz...	Pharmacogenomics	Pharmacogenomics	Established
rs75017182	DPYD HapB3 (c.1129-5923C>G)	Deep intronic splice-site variant that is the functional driver of the DPYD H...	Pharmacogenomics	Pharmacogenomics	Established
rs776746	CYP3A5 *3	Splice site variant creating a non-functional CYP3A5 enzyme, dramatically aff...	Pharmacogenomics	Pharmacogenomics	Established
rs8192780	CYP2E1	Downstream regulatory variant near CYP2E1 associated with nasopharyngeal carc...	Pharmacogenomics	Pharmacogenomics	Emerging