Tag

Pharmacogenomics

27 genetic variants with this tag.

RSID	Gene	Description	Category
rs6511720	LDLR Intron 1	Common regulatory variant in the LDL receptor gene affecting LDLR expression,...	Heart & Inflammation	Cardiovascular Cholesterol Statins	Strong
rs16947	CYP2D6 *2	Common CYP2D6 variant defining the *2 allele; previously considered normal-fu...	Pharmacogenomics	Pharmacogenomics Drug Metabolism Antidepressants	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
rs1800975	XPA A23G	5' UTR variant in the XPA DNA damage recognition gene that modulates nucleoti...	Cancer Risk	Cancer Risk DNA Repair Pharmacogenomics	Strong
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
rs6166	FSHR Asn680Ser (N680S)	Affects FSH receptor sensitivity, determining ovarian response to FSH stimula...	Hormones & Sleep	Reproductive Health Hormones Fertility	Strong
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
rs2293275	LHCGR Asn312Ser (N312S)	Affects LH/hCG receptor sensitivity near a glycosylation site, influencing ov...	Fertility & Reproductive Health	Reproductive Health Hormones Fertility	Strong
rs396991	FCGR3A V158F	Missense variant in Fc gamma receptor IIIa (CD16a) that determines NK cell Ig...	Immune & Gut	Immune & Gut Pharmacogenomics Innate Immunity	Strong
rs5219	KCNJ11 E23K	Controls the pancreatic beta-cell potassium channel that regulates insulin se...	Nutrition & Metabolism	Diabetes Insulin Metabolic	Strong
rs6923761	GLP1R Gly168Ser	GLP-1 receptor variant that alters response to GLP-1 agonist medications used...	Pharmacogenomics	Drug Response Diabetes Obesity	Moderate
rs3765467	GLP1R Arg131Gln	Missense variant in the GLP-1 receptor that alters drug response to GLP-1 ago...	Pharmacogenomics	Drug Response Diabetes Obesity	Moderate
rs10305492	GLP1R A316T	Rare protective missense variant in the GLP-1 receptor associated with lower ...	Pharmacogenomics	Drug Metabolism Diabetes Insulin	Strong
rs1042044	GLP1R Leu260Phe	GLP-1 receptor variant in intracellular loop 2 that alters receptor surface e...	Pharmacogenomics	Drug Response Pharmacogenomics Obesity	Moderate
rs35599367	CYP3A4 *22	Intronic splice variant causing ~50% reduced CYP3A4 mRNA expression, affectin...	Pharmacogenomics	Drug Metabolism Statins Immunosuppressants	Established
rs622342	SLC22A1 A>C	Intronic variant in the OCT1 organic cation transporter reducing hepatic metf...	Pharmacogenomics	Drug Metabolism Pharmacogenomics Diabetes	Moderate
rs12188300	IL12B	Near-gene variant at the IL12B locus associated with psoriasis risk through a...	Immune & Gut	Immune & Gut Immune & Autoimmune Inflammation	Moderate
rs368234815	IFNL4 ss469415590 (TT/ΔG)	Causal frameshift polymorphism controlling IFNL4 protein production; the ΔG a...	Immune & Gut	Immune & Antiviral Hepatitis C Interferon	Established