Tag

Pharmacogenomics

79 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; the G allele associates with reduced blood pressure ...	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
rs28937317	SCN5A N1325S	Rare gain-of-function missense variant in the cardiac sodium channel Nav1.5 c...	Arrhythmia & Heart Rhythm	Pharmacogenomics	Established
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
rs2032582	ABCB1 G2677T/A (Ser893Ala/Thr)	Triallelic missense variant in the P-glycoprotein efflux pump that reduces th...	Gamete Quality & DNA Repair	Pharmacogenomics	Moderate
rs1042044	GLP1R Leu260Phe	GLP-1 receptor variant in intracellular loop 2 that alters receptor surface e...	Pharmacogenomics	Pharmacogenomics	Moderate
rs1045642	ABCB1 C3435T	Synonymous variant in P-glycoprotein affecting drug efflux pump expression an...	Pharmacogenomics	Pharmacogenomics	Moderate
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
rs1058932	CYP2C8	CYP2C8 3-prime UTR variant associated with cardiovascular risk via altered ep...	Pharmacogenomics	Pharmacogenomics	Moderate
rs1142345	TPMT *3C	No-function variant causing deficient thiopurine methylation; most common TPM...	Pharmacogenomics	Pharmacogenomics	Established
rs2317676	ITGB3	3' UTR variant in the platelet glycoprotein IIIa gene (ITGB3/GPIIIa) that dis...	Von Willebrand & Anticoagulant Proteins	Pharmacogenomics	Moderate
rs116855232	NUDT15 Arg139Cys	Nucleotide diphosphatase that inactivates toxic thiopurine metabolites; reduc...	Pharmacogenomics	Pharmacogenomics	Established
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 bisphosphonate-related os...	Pharmacogenomics	Pharmacogenomics	Moderate
rs5925	LDLR LDLR Expression Co-variant	Synonymous variant in LDLR exon 13 that modulates mRNA splicing efficiency in...	Atherogenic Lipoproteins	Pharmacogenomics	Moderate
rs72551348	UGT1A1 Q331R	Rare pathogenic missense variant in the UGT1A1 gene that severely reduces bil...	Uric Acid & Kidney Function	Pharmacogenomics	Strong
rs1341164	CYP2C8	Intronic CYP2C8 variant tagging a haplotype associated with altered taxane dr...	Pharmacogenomics	Pharmacogenomics	Emerging
rs20455	KIF6 Trp719Arg	Missense variant in kinesin family member 6; the Arg allele was associated wi...	Coronary Artery Disease & Atherosclerosis	Pharmacogenomics	Moderate
rs6008845	PPARA PPARA intronic C/T	Regulatory PPARA variant where TT homozygotes with type 2 diabetes experience...	Atherogenic Lipoproteins	Pharmacogenomics	Strong
rs16947	CYP2D6 *2	Common CYP2D6 variant defining the *2 allele; previously considered normal-fu...	Pharmacogenomics	Pharmacogenomics	Strong
rs489693	MC4R MC4R AIWG variant	Intergenic variant near MC4R with genome-wide significant association with an...	Appetite & Obesity	Pharmacogenomics	Strong
rs6511720	LDLR Intron 1	Common regulatory variant in the LDL receptor gene affecting LDLR expression,...	Atherogenic Lipoproteins	Pharmacogenomics	Strong
rs17002852	CYP2D6	Synonymous CYP2D6 variant that causes allele dropout in standard CYP2D6*3 gen...	Pharmacogenomics	Pharmacogenomics	Moderate
rs1799971	OPRM1 A118G	Mu-opioid receptor variant affecting opioid response and pain sensitivity	Pharmacogenomics	Pharmacogenomics	Strong
rs1800460	TPMT *3B	Decreased-function variant causing reduced thiopurine methylation; pairs with...	Pharmacogenomics	Pharmacogenomics	Established
rs25531	SLC6A4 A>G	Promoter SNP near 5-HTTLPR that modifies serotonin transporter expression and...	Mood & Behavior	Pharmacogenomics	Moderate
rs1934951	CYP2C8	Intronic CYP2C8 variant associated with paclitaxel-induced toxicity and bisph...	Pharmacogenomics	Pharmacogenomics	Moderate
rs1934953	CYP2C8	Intronic CYP2C8 variant linked to hypertension susceptibility, COPD risk, and...	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
rs887829	UGT1A1 UGT1A1*80	Promoter variant in UGT1A1 that tags the *28 reduced-expression haplotype; T ...	Vascular Inflammation & Remodeling	Pharmacogenomics	Strong
rs1934963	CYP2C9	Deep intronic CYP2C9 variant associated with altered drug response	Pharmacogenomics	Pharmacogenomics	Emerging
rs1934967	CYP2C9	Intronic CYP2C9 haplotype tag associated with altered warfarin sensitivity an...	Pharmacogenomics	Pharmacogenomics	Moderate
rs1934980	CYP2C8	Intronic CYP2C8 variant associated with bisphosphonate-related jaw complicati...	Pharmacogenomics	Pharmacogenomics	Moderate
rs8087522	MC4R MC4R A/G (rs8087522)	Upstream regulatory variant near MC4R that may create a transcription factor ...	Appetite & Obesity	Pharmacogenomics	Emerging
rs2069526	CYP1A2 -739T>G	Intronic CYP1A2 variant near the 5' end; G allele is associated with altered ...	Pharmacogenomics	Pharmacogenomics	Emerging
rs2246709	CYP3A4	Intronic CYP3A4 variant associated with altered drug clearance, affecting met...	Pharmacogenomics	Pharmacogenomics	Moderate
rs2280275	CYP2J2	Intronic variant in CYP2J2	Pharmacogenomics	Pharmacogenomics	Moderate
rs2289669	SLC47A1 MATE1 G-1853A	Intronic variant in MATE1, the renal and hepatic metformin efflux transporter...	Pharmacogenomics	Pharmacogenomics	Moderate
rs78707713	TSPAN15	Intronic TSPAN15 variant; the C allele is associated with a 31% increased ris...	Coronary Artery Disease & Atherosclerosis	Pharmacogenomics	Strong
rs2480256	CYP2E1	3' UTR variant that increases CYP2E1 expression, raising hepatotoxicity risk ...	Pharmacogenomics	Pharmacogenomics	Moderate
rs2515641	CYP2E1	Synonymous exon-8 variant that reduces CYP2E1 mRNA and protein expression, al...	Pharmacogenomics	Pharmacogenomics	Moderate
rs2740574	CYP3A4 *1B -392A>G	Promoter variant affecting CYP3A4 expression, most common in African populations	Pharmacogenomics	Pharmacogenomics	Moderate
rs28371706	CYP2D6 *17	Decreased-function CYP2D6 allele common in African populations, reducing meta...	Pharmacogenomics	Pharmacogenomics	Established
rs28371725	CYP2D6 *41	Intronic splice variant causing decreased CYP2D6 enzyme activity through aber...	Pharmacogenomics	Pharmacogenomics	Established
rs28399433	CYP2A6 *9 (TATA box)	Promoter variant that reduces CYP2A6 expression by ~50%, slowing nicotine met...	Pharmacogenomics	Pharmacogenomics	Strong
rs6166	FSHR Asn680Ser (N680S)	Affects FSH receptor sensitivity, determining ovarian response to FSH stimula...	Hormones & Sleep	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
rs5030868	G6PD G6PD Mediterranean	Severe Class II G6PD deficiency variant (c.563C>T, p.Ser188Phe) causing less ...	Blood Sugar & Diabetes	Pharmacogenomics	Established
rs373489637	CYP2B6 V183G	Near-complete loss-of-function CYP2B6 variant causing severely impaired metab...	Pharmacogenomics	Pharmacogenomics	Moderate
rs3765467	GLP1R Arg131Gln	Missense variant in the GLP-1 receptor that alters drug response to GLP-1 ago...	Pharmacogenomics	Pharmacogenomics	Moderate
rs2653349	HCRTR2 Ile308Val	Missense variant at position 308 of the orexin receptor 2 protein; the minor ...	Neurology & Cognition	Pharmacogenomics	Strong
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	Pharmacogenomics	Pharmacogenomics	Moderate
rs3918290	DPYD *2A	Most critical pharmacogenomic variant causing complete loss of DPD enzyme fun...	Pharmacogenomics	Pharmacogenomics	Established
rs4148323	UGT1A1 *6 Gly71Arg	Phase II glucuronidation enzyme that metabolizes bilirubin and many drugs inc...	Pharmacogenomics	Pharmacogenomics	Established
rs7202877	CTRB1	Intergenic variant near CTRB1/CTRB2 that regulates chymotrypsinogen expressio...	Blood Sugar & Diabetes	Pharmacogenomics	Strong
rs76723693	G6PD G6PD Nefza (c.968T>C)	Missense variant in glucose-6-phosphate dehydrogenase causing Class III G6PD ...	Blood Sugar & Diabetes	Pharmacogenomics	Strong
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	Pharmacogenomics	Pharmacogenomics	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	Pharmacogenomics	Established
rs58194899	EIPR1	Intronic variant in EIPR1 (endosomal trafficking protein) associated with pai...	Pharmacogenomics	Pharmacogenomics	Emerging
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	Pharmacogenomics	Pharmacogenomics	Emerging
rs67784355	CYP3A4 *11 (Thr363Met)	Rare missense variant in CYP3A4 that reduces protein expression and enzymatic...	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
rs72547515	CYP1A2 *16 (Arg377Gln)	Nearly-inactive CYP1A2 missense variant — carriers have severely impaired met...	Pharmacogenomics	Pharmacogenomics	Moderate
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
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
rs6795209	HTR1F	Intergenic variant at the HTR1F locus on chromosome 3; the minor A allele inc...	Neurology & Cognition	Pharmacogenomics	Strong