Tag

Cardiovascular

199 genetic variants with this tag.

RSID	Gene	Description	Category
rs1801133	MTHFR C677T	Key enzyme for converting folate to its active methylfolate form	Methylation & Detox	Methylation Folate B Vitamins	Established
rs1815739	ACTN3 R577X	Determines presence of alpha-actinin-3 protein in fast-twitch muscle fibers, ...	Fitness & Body	Fitness Muscle Sprint & Power	Strong
rs2802292	FOXO3	Longevity-associated intronic enhancer variant with 1.9-fold increased probab...	Longevity & Aging	Longevity Aging Cardiovascular	Established
rs429358	APOE E4 determinant	Lipid metabolism and Alzheimer's risk - E4 carriers respond worse to high sat...	Lipid & Fat Metabolism	Cholesterol Cardiovascular Alzheimer's	Established
rs10455872	LPA	Intronic variant strongly associated with elevated lipoprotein(a) levels and ...	Heart & Inflammation	Cardiovascular Cholesterol Blood Thinners	Established
rs11206244	DIO1 C785T	Common variant in the 3' UTR of the DIO1 gene affecting thyroid hormone metab...	Hormones & Sleep	Thyroid Hormones Metabolism	Strong
rs7412	APOE E2 determinant	APOE E2 variant - generally protective for cardiovascular health	Lipid & Fat Metabolism	Cholesterol Cardiovascular Fat Metabolism	Established
rs9536314	KLOTHO F352V (KL-VS)	Longevity-associated variant exhibiting overdominance where heterozygotes sho...	Longevity & Aging	Mental Health Longevity Cardiovascular	Strong
rs11591147	PCSK9 R46L	Loss-of-function variant that naturally lowers LDL cholesterol by 15-28% and ...	Heart & Inflammation	Cardiovascular Cholesterol Diet	Established
rs1611115	DBH -1021C>T	Strongest known genetic determinant of dopamine beta-hydroxylase activity, co...	Mood & Behavior	Cognition Dopamine Neurotransmitters	Strong
rs1799941	SHBG	Promoter region variant affecting sex hormone-binding globulin levels, with t...	Hormones & Sleep	Hormones & Thyroid Cardiovascular Diabetes	Strong
rs2736100	TERT	Common intron 2 variant in the telomerase gene that influences telomere lengt...	Longevity & Aging	Mental Health Telomere Biology Aging	Strong
rs4986790	TLR4 Asp299Gly	Missense variant in Toll-like receptor 4 reducing bacterial endotoxin recogni...	Immune & Gut	Immune System Inflammation Autoimmune	Strong
rs5082	APOA2 -265T>C	Promoter variant that reduces APOA2 expression by 30%; GG homozygotes consumi...	Lipid & Fat Metabolism	Fat Metabolism Diet Obesity	Strong
rs1042713	ADRB2 Arg16Gly	Beta-2 adrenergic receptor variant affecting receptor downregulation, exercis...	Fitness & Body	Fitness Cardiovascular Beta-Agonist	Strong
rs12696304	TERC	Regulatory variant near the telomerase RNA gene associated with shorter telom...	Longevity & Aging	Mental Health Cardiovascular Diet	Established
rs1800896	IL10 -1082 A>G	Promoter variant affecting IL-10 production — the master anti-inflammatory cy...	Immune & Gut	Immune & Autoimmune Inflammation Autoimmune	Strong
rs3135506	APOA5 S19W	Triglyceride metabolism - affects fasting triglyceride levels and cardiovascu...	Lipid & Fat Metabolism	Triglycerides Cardiovascular Fat Metabolism	Strong
rs5219	KCNJ11 E23K	Controls the pancreatic beta-cell potassium channel that regulates insulin se...	Energy & Weight	Diabetes Insulin Metabolic	Strong
rs708272	CETP TaqIB	Influences HDL cholesterol levels and particle size through effects on choles...	Heart & Inflammation	Cardiovascular Cholesterol Longevity	Strong
rs11136000	CLU	Intronic variant in clusterin gene affecting Alzheimer's disease risk through...	Neurology & Cognition	Alzheimer's Neurological Risk Cardiovascular	Established
rs13266634	SLC30A8 Arg325Trp (C>T)	Zinc transporter 8 variant affecting zinc loading into insulin granules, infl...	Energy & Weight	Zinc Insulin Diabetes	Established
rs1799750	MMP1 1G/2G	Promoter polymorphism affecting MMP1 expression and collagen degradation rate...	Skin & Eyes	Skin, Hair & Pigmentation Cardiovascular Diet	Strong
rs1800629	TNF -308 G>A	Promoter variant increasing TNF-alpha production approximately 2-fold, associ...	Immune & Gut	Immune & Autoimmune Inflammation Drug Metabolism	Strong
rs693	APOB XbaI (C/T)	Silent variant affecting LDL particle number and lipid metabolism; A allele c...	Heart & Inflammation	Cardiovascular Cholesterol Triglycerides	Strong
rs699	AGT M235T	Angiotensinogen level variant affecting blood pressure, sodium sensitivity, a...	Fitness & Body	Cardiovascular Diet Fitness	Strong
rs7895833	SIRT1 A>G	Intronic variant in SIRT1 affecting NAD-dependent deacetylase expression and ...	Longevity & Aging	Mental Health Neurotransmitters Cardiovascular	Moderate
rs174547	FADS1	Omega-3 fatty acid conversion efficiency - affects ability to make EPA/DHA fr...	Lipid & Fat Metabolism	Omega-3 Fat Metabolism Diet	Strong
rs2295080	MTOR	Promoter variant that reduces mTOR expression; the G allele lowers mTOR trans...	Longevity & Aging	Longevity Aging Autophagy	Moderate
rs2943641	IRS1 Near-gene C>T	Regulates insulin signaling efficiency and cellular glucose uptake	Energy & Weight	Diabetes Insulin Cardiovascular	Strong
rs4588	GC Thr436Lys	Alters vitamin D binding protein affinity, affecting total and bioavailable 2...	Vitamins & Micronutrients	Vitamin D Bone Health Cardiovascular	Strong
rs5186	AGTR1 A1166C	3' UTR variant in angiotensin II type 1 receptor affecting blood pressure reg...	Heart & Inflammation	Cardiovascular Drug Metabolism Blood Thinners	Moderate
rs75932628	TREM2 R47H	Rare missense variant in microglial receptor TREM2 that significantly increas...	Neurology & Cognition	Alzheimer's Neurological Risk Neuroinflammation	Established
rs10423928	GIPR	Intronic GIPR variant that reduces functional GIP receptor expression via alt...	Energy & Weight	Diabetes Insulin Diet	Strong
rs1061170	CFH Y402H	Strongly increases risk of age-related macular degeneration through impaired ...	Skin & Eyes	Eye Health Inflammation Cardiovascular	Established
rs174537	FADS1	Regulatory variant in the FADS1 locus that controls delta-5 desaturase expres...	Lipid & Fat Metabolism	Omega-3 Fat Metabolism Cardiovascular	Strong
rs2234693	ESR1 PvuII	Estrogen receptor alpha intron variant affecting receptor expression and estr...	Hormones & Sleep	Hormones & Thyroid Bone Health Cardiovascular	Moderate
rs3851179	PICALM	Variant in the PICALM gene affecting amyloid-beta clearance across the blood-...	Neurology & Cognition	Alzheimer's Neurological Risk Cardiovascular	Established
rs4253778	PPARA intron 7 G/C	Regulates fatty acid oxidation and muscle fiber composition, influencing endu...	Fitness & Body	Endurance Exercise Fat Metabolism	Moderate
rs662	PON1 Q192R	Affects paraoxonase-1 enzyme activity for detoxifying organophosphates and pr...	Heart & Inflammation	Cardiovascular Detoxification Cholesterol	Moderate
rs6721961	NFE2L2	Promoter variant reducing NRF2 transcriptional activity by >50%, impairing th...	Longevity & Aging	Oxidative Stress Antioxidants Detoxification	Moderate
rs762551	CYP1A2 *1F	Caffeine metabolism - affects how quickly you process caffeine	Pharmacogenomics	Drug Metabolism Diet Cardiovascular	Strong
rs1205	CRP +1846C>T	3' UTR variant that modulates baseline C-reactive protein levels and inflamma...	Heart & Inflammation	Inflammation Cardiovascular Diabetes	Strong
rs1532085	LIPC	Intronic eQTL that reduces hepatic lipase expression, raising HDL-C levels wh...	Lipid & Fat Metabolism	HDL Cholesterol Fat Metabolism Cholesterol	Strong
rs1800795	IL6 -174G/C	Promoter variant controlling interleukin-6 expression — affects inflammation,...	Fitness & Body	Inflammation Cardiovascular Fitness	Strong
rs2282679	GC	Intronic GWAS tag variant in the vitamin D binding protein gene, the stronges...	Vitamins & Micronutrients	Vitamin D Bone Health Cardiovascular	Established
rs4149056	SLCO1B1 *5	Statin transport - affects muscle side effect risk with statins	Pharmacogenomics	Drug Metabolism Statins Cardiovascular	Established
rs9939609	FTO Intron 1 T>A	The most strongly replicated obesity-associated variant, affecting body weigh...	Energy & Weight	Obesity Metabolic Diabetes	Established
rs11057830	SCARB1	Intronic variant in SCARB1 that affects SR-BI receptor function and the intes...	Lipid & Fat Metabolism	Vitamin E Vitamins Fat Metabolism	Moderate
rs12785878	DHCR7 Near gene T>G	Influences vitamin D synthesis by regulating how much 7-dehydrocholesterol is...	Vitamins & Micronutrients	Vitamin D Bone Health Immune System	Strong
rs16944	IL1B -511C>T	Promoter variant affecting IL-1 beta production, influencing inflammatory res...	Heart & Inflammation	Inflammation Cardiovascular Sepsis	Strong
rs17782313	MC4R Near-gene C>T	Intergenic variant 188kb downstream of MC4R affecting appetite regulation, me...	Energy & Weight	Appetite Obesity Metabolic	Strong
rs2954021	TRIB1	Near-gene variant influencing hepatic lipid metabolism; G allele raises trigl...	Lipid & Fat Metabolism	Triglycerides Cardiovascular Cholesterol	Established
rs4236601	CAV1	Intergenic variant near caveolin genes affecting primary open-angle glaucoma ...	Skin & Eyes	Eye Health Cardiovascular Aging	Strong
rs6025	F5 Leiden	Factor V Leiden - blood clotting disorder affecting thrombosis risk	Pharmacogenomics	Cardiovascular Blood Thinners	Established
rs6511720	LDLR Intron 1	Common regulatory variant in the LDL receptor gene affecting LDLR expression,...	Heart & Inflammation	Cardiovascular Cholesterol Statins	Strong
rs7944926	DHCR7	Near-gene intronic variant in the DHCR7/NADSYN1 locus on chromosome 11 that t...	Vitamins & Micronutrients	Vitamin D Bone Health Immune System	Strong
rs11555236	SIRT3	Intronic regulatory variant near the SIRT3 VNTR enhancer — the A allele incre...	Longevity & Aging	Longevity Aging Mitochondria	Moderate
rs12740374	SORT1 1p13.3 locus	Regulatory variant that increases sortilin expression, lowering LDL cholester...	Heart & Inflammation	Cholesterol Cardiovascular Lipid Metabolism	Established
rs17321515	TRIB1	Near-gene variant 30–44 kb downstream of TRIB1; A allele raises triglycerides...	Lipid & Fat Metabolism	Triglycerides Cardiovascular Cholesterol	Strong
rs2228570	VDR FokI C>T	Vitamin D receptor start codon variant — determines receptor protein length a...	Vitamins & Micronutrients	Vitamin D Bone Health Diet	Strong
rs234706	CBS C699T	Common synonymous variant in the CBS gene associated with reduced cardiovascu...	Methylation & Detox	Methylation Cardiovascular Folate	Moderate
rs33912345	SIX6 Asn141His	Affects optic nerve development and retinal ganglion cell survival, strongly ...	Skin & Eyes	Eye Health Glaucoma Cardiovascular	Strong
rs41423247	NR3C1 BclI	Intronic glucocorticoid receptor variant affecting cortisol sensitivity and s...	Mood & Behavior	Mental Health Stress Response Cortisol	Strong
rs1052373	MYBPC3	Cardiac myosin-binding protein variant strongly associated with endurance ath...	Fitness & Body	Endurance Cardiovascular Fitness	Strong
rs16147	NPY C-399T	Promoter variant in neuropeptide Y that modulates NPY expression under stress...	Mood & Behavior	Stress Response Appetite Obesity	Moderate
rs1776897	HMGA1	Chromatin remodeling variant near HMGA1 associated with waist-to-hip ratio an...	Lipid & Fat Metabolism	Fat Metabolism Obesity Insulin	Moderate
rs1801181	CBS A360A	A synonymous variant in CBS affecting homocysteine metabolism and associated ...	Methylation & Detox	Methylation Homocysteine B Vitamins	Moderate
rs2542052	APOC3	Promoter variant that reduces APOC3 expression, associated with lower triglyc...	Longevity & Aging	Longevity Triglycerides Cardiovascular	Strong
rs5128	APOC3 3238C>G (SstI)	Regulates triglyceride metabolism through effects on APOC3 expression in the ...	Heart & Inflammation	Triglycerides Cardiovascular Cholesterol	Strong
rs6013897	CYP24A1	Near-gene regulatory variant affecting vitamin D 24-hydroxylase expression — ...	Vitamins & Micronutrients	Vitamin D Bone Health Diet	Strong
rs13107325	SLC39A8 A391T	Zinc and manganese transporter variant that reduces metal ion absorption, aff...	Immune & Gut	Cardiovascular Inflammation Diet	Strong
rs1800947	CRP +1059G>C	Synonymous exon 2 variant that influences baseline C-reactive protein express...	Heart & Inflammation	Inflammation Cardiovascular Cancer Risk	Strong
rs2010963	VEGFA G-634C (+405G>C)	Promoter variant affecting VEGF-A expression and angiogenesis, influencing mu...	Fitness & Body	Angiogenesis Fitness Injury Risk	Strong
rs567754	BHMT BHMT-02	Intronic variant in betaine-homocysteine methyltransferase gene associated wi...	Methylation & Detox	Methylation Homocysteine B Vitamins	Moderate
rs659366	UCP2	Promoter variant at position -866 of UCP2 that controls mitochondrial uncoupl...	Longevity & Aging	Longevity Aging Mitochondria	Moderate
rs7940244	NADSYN1 Near DHCR7	Intronic NADSYN1 variant in the DHCR7/NADSYN1 vitamin D locus; T allele tags ...	Vitamins & Micronutrients	Vitamin D Bone Health Immune System	Strong
rs1862513	RETN -420C>G	Promoter variant that increases resistin expression via Sp1/Sp3 transcription...	Energy & Weight	Nutrition & Metabolism Insulin Resistance Inflammation	Moderate
rs1979277	SHMT1 C1420T	Alters one-carbon metabolism and folate distribution; influences cancer risk,...	Methylation & Detox	Methylation Folate B Vitamins	Moderate
rs3829251	NADSYN1	Intronic NADSYN1 variant at the DHCR7/NADSYN1 vitamin D locus; A allele was t...	Vitamins & Micronutrients	Vitamin D Bone Health Immune System	Strong
rs4073	IL8 -251A>T	Promoter variant affecting interleukin-8 transcription and inflammatory burden	Heart & Inflammation	Inflammation Cardiovascular Heart Disease	Strong
rs58542926	TM6SF2 E167K	Lipid transport variant that impairs VLDL secretion, creating a paradoxical t...	Lipid & Fat Metabolism	Metabolic Cardiovascular Cholesterol	Strong
rs5882	CETP I405V	Missense variant that reduces CETP enzyme activity, raising HDL-C and enlargi...	Longevity & Aging	Longevity Aging Cholesterol	Moderate
rs17300539	ADIPOQ -11391G>A	Promoter variant affecting adiponectin secretion and metabolic syndrome risk	Energy & Weight	Nutrition & Metabolism Insulin Diabetes	Strong
rs1800872	IL10 -592 C>A	Promoter variant affecting IL-10 production — a key anti-inflammatory cytokin...	Heart & Inflammation	Inflammation Cardiovascular Immune & Autoimmune	Strong
rs819147	AHCY	Regulatory variant affecting S-adenosylhomocysteine hydrolase expression, inf...	Methylation & Detox	Methylation Homocysteine Cardiovascular	Moderate
rs8192678	PPARGC1A Gly482Ser	Master mitochondrial biogenesis regulator — Ser482 variant reduces PGC-1alpha...	Longevity & Aging	Fitness Endurance Diabetes	Strong
rs1799963	F2 G20210A	Second most common inherited thrombophilia; the A allele raises prothrombin l...	Heart & Inflammation	Blood Clotting Cardiovascular Thrombophilia	Established
rs4654748	NBPF3	Tag SNP in the NBPF3/ALPL locus on chromosome 1 — the strongest common geneti...	Vitamins & Micronutrients	B Vitamins Homocysteine Neurotransmitters	Strong
rs4994	ADRB3 Trp64Arg	Beta-3 adrenergic receptor variant that impairs catecholamine-stimulated lipo...	Energy & Weight	Fat Metabolism Obesity Insulin	Moderate
rs1256335	ALPL	Intronic variant near ALPL associated with increased alkaline phosphatase act...	Vitamins & Micronutrients	B Vitamins Methylation Cardiovascular	Strong
rs1800588	LIPC -514C>T	Promoter variant that reduces hepatic lipase activity, raising HDL-C levels b...	Heart & Inflammation	Cholesterol Fat Metabolism Cardiovascular	Strong
rs2287161	CRY1 3' Downstream G>C	Cryptochrome 1 circadian gene variant influencing glucose metabolism, sleep t...	Hormones & Sleep	Circadian Sleep Chronotype	Strong
rs7664413	VEGFC	Intronic variant in the primary lymphangiogenesis growth factor gene associat...	Immune & Gut	Lymphatic Lipedema Fat Metabolism	Emerging
rs5443	GNB3 C825T	Synonymous exon-10 variant that triggers alternative splicing of the G-protei...	Hormones & Sleep	Hypertension Blood Pressure Antidepressants	Strong
rs660339	UCP2 Ala55Val	Missense variant reducing mitochondrial uncoupling efficiency in white adipos...	Energy & Weight	Fat Metabolism Obesity Diet	Moderate
rs662799	APOA5 -1131T>C	Promoter variant that reduces APOA5 expression, impairing lipoprotein lipase ...	Heart & Inflammation	Triglycerides Fat Metabolism Cardiovascular	Strong
rs1333049	CDKN2B-AS1 9p21 locus	Strongest GWAS signal for coronary artery disease; risk C allele accelerates ...	Longevity & Aging	Cardiovascular Diet Lifestyle	Established
rs1501299	ADIPOQ +276G>T	Intronic variant in the adiponectin gene that influences circulating adiponec...	Heart & Inflammation	Cardiovascular Diabetes Insulin	Moderate
rs234709	CBS	Intronic CBS variant that tags the CBS locus in GWAS studies; associated with...	Vitamins & Micronutrients	Methylation Homocysteine B Vitamins	Moderate
rs932764	PLCE1	Intronic variant in PLCE1 (phospholipase C epsilon 1) associated with elevate...	Fertility & Reproductive Health	Preeclampsia Fertility Reproductive Health	Strong
rs13154066	NPR3	Regulatory variant near the NPR3 natriuretic peptide clearance receptor gene ...	Fertility & Reproductive Health	Preeclampsia Fertility Reproductive Health	Strong
rs1935949	FOXO3	Second independent FOXO3 longevity signal tagging a distinct intronic haploty...	Longevity & Aging	Longevity Aging Oxidative Stress	Moderate
rs2231142	ABCG2 Q141K	Reduces ABCG2 transporter function affecting rosuvastatin levels and uric aci...	Pharmacogenomics	Drug Metabolism Statins Cardiovascular	Established
rs2651899	PRDM16	Intronic variant in the master regulator of brown/beige fat differentiation, ...	Energy & Weight	Fat Metabolism Thermogenesis Cardiovascular	Moderate
rs3736228	LRP5 A1330V	Wnt signaling co-receptor variant affecting bone mineral density and fracture...	Fitness & Body	Bone & Joint Osteoporosis Cardiovascular	Strong
rs505922	ABO ABO blood group tag SNP	Tag SNP for the ABO blood group locus; T allele marks blood type O (lower clo...	Heart & Inflammation	Cardiovascular Thrombosis Blood Thinners	Established
rs1799983	NOS3 Glu298Asp	Nitric oxide production - reduced activity increases cardiovascular risk and ...	Methylation & Detox	Cardiovascular Nitric Oxide Detoxification	Established
rs2108622	CYP4F2 V433M (*3)	Reduces vitamin K metabolism, requiring higher warfarin doses to achieve anti...	Pharmacogenomics	Drug Metabolism Warfarin Blood Thinners	Established
rs2241766	ADIPOQ T45G	Synonymous exon 2 variant in the adiponectin gene that affects mRNA stability...	Heart & Inflammation	Fat Metabolism Obesity Insulin	Moderate
rs2304795	PLIN1	Synonymous exon 8 variant in perilipin 1 that tags a haplotype associated wit...	Energy & Weight	Fat Metabolism Obesity Diet	Moderate
rs2764264	FOXO3	Intronic FOXO3 variant that disrupts an NKX3 transcription factor binding sit...	Longevity & Aging	Longevity Aging Cardiovascular	Strong
rs3801387	WNT16	Intronic variant affecting cortical bone thickness, bone mineral density, and...	Fitness & Body	Bone & Joint Cardiovascular Diet	Established
rs780094	GCKR	Intronic GCKR variant in strong LD with the coding P446L substitution (rs1260...	Lipid & Fat Metabolism	Triglycerides Fat Metabolism Insulin	Strong
rs8065080	TRPV1 Ile585Val	Capsaicin receptor variant affecting heat and pain sensitivity	Neurology & Cognition	Pain Sensitivity Neurotransmitters Cardiovascular	Strong
rs11590235	SKI	TGF-beta signaling regulator variant identified as the top shared locus betwe...	Heart & Inflammation	Inflammation Cardiovascular Diabetes	Moderate
rs1260326	GCKR P446L	Coding GCKR variant (Pro446Leu) that directly reduces GCKRP sensitivity to fr...	Lipid & Fat Metabolism	Triglycerides Fat Metabolism Insulin	Strong
rs2070744	NOS3 T-786C promoter	NOS3 expression - controls how much eNOS enzyme is produced for nitric oxide ...	Methylation & Detox	Cardiovascular Nitric Oxide Detoxification	Strong
rs6198	NR3C1 9β	3'UTR variant that increases glucocorticoid-resistant GRβ isoform expression,...	Longevity & Aging	Longevity Aging HPA Axis	Strong
rs7566605	INSIG2	Upstream regulatory variant near INSIG2 that influences lipogenesis control a...	Energy & Weight	Obesity Fat Metabolism Diet	Moderate
rs8007267	GCH1	Promoter variant affecting GTP cyclohydrolase 1 expression and pain sensitivi...	Neurology & Cognition	Pain Sensitivity Nitric Oxide Neurotransmitters	Strong
rs10195252	GRB14/COBLL1	Intergenic variant between GRB14 and COBLL1 that acts as an eQTL for GRB14 in...	Energy & Weight	Fat Metabolism Insulin Lipedema	Strong
rs1045642	ABCB1 C3435T	Synonymous variant in P-glycoprotein affecting drug efflux pump expression an...	Pharmacogenomics	Drug Metabolism Pharmacogenomics Immunosuppressants	Moderate
rs2069837	IL6	Intronic IL6 enhancer variant that regulates the anti-inflammatory gene GPNMB...	Longevity & Aging	Longevity Aging Inflammation	Moderate
rs3025058	MMP3 5A/6A	Promoter polymorphism affecting MMP3 enzyme expression levels, influencing ca...	Fitness & Body	Bone & Joint Inflammation Cardiovascular	Strong
rs6905288	VEGFA	Adipose tissue vascularization variant near VEGFA influencing fat distributio...	Heart & Inflammation	Fat Metabolism Cardiovascular Insulin	Moderate
rs6994076	TTPA -980T>A	Regulates expression of the alpha-tocopherol transfer protein, the key determ...	Vitamins & Micronutrients	Vitamins Vitamin E Diet	Strong
rs1800562	HFE C282Y	Primary variant causing hereditary hemochromatosis type 1, disrupting iron re...	Vitamins & Micronutrients	Iron Hemochromatosis Vitamins	Established
rs3803304	AKT1	Intronic AKT1 variant near a conserved exon-intron boundary; the G allele is ...	Longevity & Aging	Longevity Aging Insulin	Moderate
rs4148323	UGT1A1 *6 Gly71Arg	Phase II glucuronidation enzyme that metabolizes bilirubin and many drugs inc...	Pharmacogenomics	Pharmacogenomics Drug Metabolism Chemotherapy	Established
rs4977574	CDKN2B-AS1 9p21.3	Independent 9p21.3 CAD risk signal in ANRIL; G allele elevates coronary arter...	Heart & Inflammation	Cardiovascular Atherosclerosis Diet	Established
rs60910145	APOL1 G1 I384M	Second component of the APOL1 G1 kidney disease risk haplotype — a missense v...	Lipid & Fat Metabolism	Kidney Disease Cardiovascular Inflammation	Established
rs9491696	RSPO3	Intronic enhancer variant in RSPO3 that increases gene expression in adipocyt...	Energy & Weight	Fat Metabolism Obesity Insulin Resistance	Strong
rs9594759	TNFSF11	Regulatory variant in the RANKL gene affecting bone mineral density and osteo...	Fitness & Body	Bone & Joint Cardiovascular Calcium	Strong
rs17465637	MIA3	Intronic variant in MIA3/TANGO1 affecting collagen secretion and vascular smo...	Heart & Inflammation	Cardiovascular Atherosclerosis Inflammation	Strong
rs1799945	HFE H63D	Second most common hereditary hemochromatosis variant, mildly increasing iron...	Vitamins & Micronutrients	Iron Hemochromatosis Cardiovascular	Established
rs243865	MMP2 C-1306T	Promoter polymorphism that disrupts an Sp1-binding site and reduces MMP-2 enz...	Fitness & Body	Connective Tissue Extracellular Matrix Inflammation	Moderate
rs2605100	LYPLAL1	Intronic variant in the LYPLAL1 locus associated with waist-hip ratio and fat...	Energy & Weight	Fat Metabolism Obesity Diet	Strong
rs3751143	P2RX7 Glu496Ala	Loss-of-function variant in the P2X7 receptor that reduces inflammatory respo...	Neurology & Cognition	Pain Sensitivity Inflammation Immune Function	Strong
rs71785313	APOL1 G2 (del388N389Y)	Six-base-pair in-frame deletion removing two amino acids from apolipoprotein ...	Lipid & Fat Metabolism	Kidney Disease Cardiovascular Infectious Disease	Established
rs16847897	TERC	Regulatory variant at the TERC locus associated with shorter telomeres and ac...	Longevity & Aging	Telomere Biology Aging Longevity	Strong
rs3184504	SH2B3 R262W	Pleiotropic missense variant reducing SH2B3 inhibitory function, increasing b...	Heart & Inflammation	Cardiovascular Inflammation Autoimmune	Strong
rs4341	ACE I/D tag SNP	Tag SNP for the ACE insertion/deletion polymorphism — the C allele tracks the...	Fitness & Body	Fitness Endurance Sprint & Power	Strong
rs855791	TMPRSS6 Ala736Val	Master regulator of iron absorption via hepcidin control — the strongest comm...	Vitamins & Micronutrients	Iron Cardiovascular Diet	Established
rs11556924	ZC3HC1 R363H	Missense variant in ZC3HC1/NIPA altering cell cycle regulation; the T (His363...	Heart & Inflammation	Cardiovascular Heart Disease Atherosclerosis	Strong
rs1801253	ADRB1 Arg389Gly	Beta-1 adrenergic receptor variant where Arg389 produces higher basal activit...	Fitness & Body	Fitness Cardiovascular Heart Disease	Strong
rs4880	SOD2 Val16Ala	Primary mitochondrial antioxidant enzyme - variant reduces superoxide detoxif...	Methylation & Detox	Detoxification Oxidative Stress Antioxidants	Strong
rs1006737	CACNA1C	L-type calcium channel gene variant affecting mood regulation, emotional proc...	Mood & Behavior	Mental Health Brain Health Mood	Strong
rs1050450	GPX1 Pro198Leu	Selenium-dependent antioxidant enzyme that neutralizes hydrogen peroxide; the...	Methylation & Detox	Detoxification Oxidative Stress Selenium	Strong
rs2016520	PPARD +294T>C	Regulatory variant that increases PPARD transcription, enhancing fat oxidatio...	Fitness & Body	Endurance Exercise Fat Metabolism	Moderate
rs2681472	ATP2B1	Intronic regulatory variant near the PMCA1 calcium pump gene, one of the most...	Heart & Inflammation	Cardiovascular Blood Pressure Hypertension	Strong
rs602662	FUT2 Gly258Ser	Missense variant in the FUT2 fucosyltransferase enzyme that alters haptocorri...	Vitamins & Micronutrients	Vitamin B12 B Vitamins Homocysteine	Strong
rs10305492	GLP1R A316T	Rare protective missense variant in the GLP-1 receptor associated with lower ...	Pharmacogenomics	Drug Metabolism Diabetes Insulin	Strong
rs11172113	LRP1	Intronic enhancer variant in LRP1 that regulates receptor expression in brain...	Energy & Weight	Leptin Cardiovascular Brain Health	Moderate
rs1799998	CYP11B2 -344C>T	Promoter variant in aldosterone synthase increasing CYP11B2 transcription, as...	Heart & Inflammation	Cardiovascular Blood Pressure Salt Sensitivity	Moderate
rs1801252	ADRB1 Ser49Gly	Beta-1 adrenergic receptor variant at position 49 affecting receptor downregu...	Fitness & Body	Fitness Cardiovascular Exercise Performance	Strong
rs4946935	FOXO3	Functionally validated FOXO3 intronic variant that creates an SRF binding sit...	Longevity & Aging	Longevity Aging Oxidative Stress	Strong
rs1138272	GSTP1 Ala114Val	Second functional variant in glutathione S-transferase Pi 1, reducing enzyme ...	Methylation & Detox	Detoxification Glutathione Phase II	Moderate
rs1799752	ACE I/D (Alu insertion/deletion)	The causal ACE insertion/deletion structural variant — presence or absence of...	Fitness & Body	Fitness Endurance Sprint & Power	Strong
rs5068	NPPA	3'UTR variant that disrupts miR-425 binding, increasing atrial natriuretic pe...	Heart & Inflammation	Cardiovascular Blood Pressure Hypertension	Strong
rs1053049	PPARD 3'UTR variant	3'UTR variant in PPARD that acts as the third tag in the elite athlete haplot...	Fitness & Body	Endurance Exercise Fat Metabolism	Moderate
rs17514846	FURIN	Intronic regulatory variant modulating FURIN expression via allele-specific D...	Heart & Inflammation	Cardiovascular Inflammation Blood Pressure	Strong
rs2963154	NR3C1	Intronic NR3C1 variant with TT genotype enriched in Polish centenarians; C al...	Longevity & Aging	Longevity Aging HPA Axis	Emerging
rs35599367	CYP3A4 *22	Intronic splice variant causing ~50% reduced CYP3A4 mRNA expression, affectin...	Pharmacogenomics	Drug Metabolism Statins Immunosuppressants	Established
rs3733591	SLC2A9 Arg265His	Missense variant in the major renal urate transporter; the Arg265 (C) allele ...	Vitamins & Micronutrients	Gout Cardiovascular Diet	Strong
rs11942223	SLC2A9	Intronic SLC2A9 variant tagging an independent urate-transport signal; the pr...	Vitamins & Micronutrients	Gout Uric Acid Cardiovascular	Strong
rs1800566	NQO1 Pro187Ser (C609T)	Phase II detoxification enzyme that reduces quinones and recycles CoQ10 to it...	Methylation & Detox	Detoxification Phase II Oxidative Stress	Strong
rs3798220	LPA Ile4399Met (I4399M)	Missense variant in the protease-like domain of apolipoprotein(a) causing mar...	Heart & Inflammation	Cardiovascular Cholesterol Blood Thinners	Strong
rs1048943	CYP1A1 Ile462Val (*2C)	Phase I detoxification enzyme that activates polycyclic aromatic hydrocarbons...	Methylation & Detox	Detoxification Phase I Xenobiotics	Strong
rs16890979	SLC2A9	Missense variant in the GLUT9 renal urate transporter; the T allele (Val→Ile ...	Vitamins & Micronutrients	Gout Uric Acid Diet	Moderate
rs9818870	MRAS	3' UTR variant near miRNA binding sites in MRAS, associated with ~15% increas...	Heart & Inflammation	Cardiovascular Inflammation Statins	Strong
rs13217795	FOXO3	Original 2008 Willcox longevity discovery variant; C allele tags the protecti...	Longevity & Aging	Longevity Aging Oxidative Stress	Strong
rs17697419	VEGFC	Intronic variant in the primary lymphangiogenesis growth factor gene; the min...	Heart & Inflammation	Cardiovascular Diabetes Inflammation	Moderate
rs1800764	ACE Promoter T>C	Upstream promoter-region ACE variant on a separate LD block from the I/D poly...	Fitness & Body	Fitness Cardiovascular Hypertension	Moderate
rs505802	SLC22A12	Upstream regulatory variant in the URAT1 urate reabsorption transporter gene;...	Vitamins & Micronutrients	Gout Uric Acid Cardiovascular	Established
rs987237	TFAP2B	Adipocyte transcription factor variant influencing central fat distribution a...	Energy & Weight	Fat Metabolism Diet Obesity	Moderate
rs1001179	CAT -262C>T	Catalase promoter variant affecting hydrogen peroxide clearance and antioxida...	Methylation & Detox	Detoxification Antioxidants Oxidative Stress	Strong
rs17697515	VEGFC	Intronic VEGFC variant independently associated with reduced diabetic retinop...	Heart & Inflammation	Cardiovascular Inflammation Diabetes	Moderate
rs2078267	SLC22A11	Intronic variant in the OAT4 renal urate transporter that modulates uric acid...	Vitamins & Micronutrients	Uric Acid Gout Diet	Strong
rs2253310	FOXO3	Intronic FOXO3 longevity variant; C allele (minor in East Asians) associated ...	Longevity & Aging	Longevity Aging Oxidative Stress	Moderate
rs12212067	FOXO3	Intronic FOXO3 variant whose minor G allele creates an MZF1 transcription fac...	Longevity & Aging	Longevity Aging Inflammation	Strong
rs12917707	UMOD	Uromodulin promoter variant — strongest GWAS signal for chronic kidney diseas...	Vitamins & Micronutrients	Kidney Function Hypertension Cardiovascular	Established
rs1800206	PPARA Leu162Val (L162V)	Missense variant in PPARA that reduces receptor transcriptional activity, ele...	Fitness & Body	Fat Metabolism Cardiovascular Omega-3	Moderate
rs2270915	NPR3 N521D	Missense variant in NPR3 clearance receptor disrupting Gi protein coupling, i...	Heart & Inflammation	Cardiovascular Blood Pressure Hypertension	Moderate
rs10482605	NR3C1	NR3C1 promoter variant reducing glucocorticoid receptor transcription; G alle...	Longevity & Aging	Longevity Aging HPA Axis	Moderate
rs4293393	UMOD	UMOD promoter variant affecting uromodulin expression, linked to CKD, salt-se...	Vitamins & Micronutrients	Kidney Disease Hypertension Gout	Established
rs9470080	FKBP5	Intronic FKBP5 variant in the stress-aging haplotype block — T allele carrier...	Longevity & Aging	Longevity Aging HPA Axis	Strong
rs10936599	TERC Near gene (3q26.2)	Near-TERC regulatory variant where the minor T allele associates with shorter...	Longevity & Aging	Telomere Biology Aging Longevity	Established
rs891512	NOS3	Intronic NOS3 variant that alters splicing factor binding and is associated w...	Vitamins & Micronutrients	Nitric Oxide Cardiovascular Hypertension	Moderate
rs1808593	NOS3	Intronic NOS3 variant associated with ankle-brachial index and peripheral art...	Vitamins & Micronutrients	Cardiovascular Nitric Oxide Endothelial Health	Moderate
rs9420907	OBFC1	Intronic variant in the CST complex component STN1/OBFC1 that influences telo...	Longevity & Aging	Telomere Biology Aging Longevity	Strong
rs28929474	SERPINA1 Z allele (E342K)	Most common alpha-1 antitrypsin deficiency variant causing protein misfolding...	Vitamins & Micronutrients	Detoxification Lung Health Liver Disease	Established
rs7675998	NAF1	Regulatory variant near the NAF1 telomerase assembly gene associated with sho...	Longevity & Aging	Telomere Biology Longevity Cardiovascular	Strong
rs1524107	IL6	Intronic IL6 variant tagging a low-producing haplotype — the T allele is prot...	Longevity & Aging	Inflammation Longevity Aging	Moderate
rs2918418	NR3C1	Intronic NR3C1 variant with CC genotype enriched in Polish centenarians; GG g...	Longevity & Aging	Longevity Aging HPA Axis	Emerging
rs2779249	NOS2 Promoter -1026C/A	Functional promoter variant that increases iNOS transcriptional activity up t...	Longevity & Aging	Longevity Inflammaging Nitric Oxide	Moderate
rs4986791	TLR4 Thr399Ile	Missense variant in Toll-like receptor 4 that co-segregates with Asp299Gly on...	Immune & Gut	Immune System Inflammation Autoimmune	Strong
rs1800871	IL10 -819 C>T	Promoter variant in the IL-10 haplotype system — regulates IL-10 anti-inflamm...	Immune & Gut	Inflammation Immune & Autoimmune Autoimmune	Strong
rs5743810	TLR6 Ser249Pro	Coding variant replacing serine with proline at TLR6 position 249, altering T...	Immune & Gut	Innate Immunity Infectious Disease Immune & Gut	Moderate