Tag

Cardiovascular

684 genetic variants with this tag.

RSID	Gene	Description	Category
rs1001179	CAT -262C>T	Catalase promoter variant affecting hydrogen peroxide clearance and antioxida...	Methylation & Detox	Cardiovascular	Strong
rs1003194	CALCA/CALCB	Intergenic regulatory variant ~26 kb downstream of CALCB (calcitonin gene-rel...	Neurology & Cognition	Cardiovascular	Strong
rs10033464	KCNN3 KCNN3 AF susceptibility variant	Intergenic 4q25 variant near KCNN3 and PITX2 that confers an independent risk...	Arrhythmia & Heart Rhythm	Cardiovascular	Strong
rs1006737	CACNA1C	L-type calcium channel gene variant affecting mood regulation, emotional proc...	Mood & Behavior	Cardiovascular	Strong
rs1008899	NEDD4L	Intronic NEDD4L variant tagging isoforms with differing ENaC ubiquitination c...	Blood Pressure & Hypertension	Cardiovascular	Moderate
rs1010	VAMP8 VAMP8 3'UTR Variant	Common 3'UTR variant in VAMP8 that disrupts a microRNA-96 binding site, eleva...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Moderate
rs1024611	CCL2 A-2518G	Promoter variant that increases CCL2 (MCP-1) transcription, amplifying monocy...	Vascular Inflammation & Remodeling	Cardiovascular	Moderate
rs1036477	FBN1	Deep intronic FBN1 variant associated with larger ascending aortic dimensions...	Cardiomyopathy & Structural Heart	Cardiovascular	Strong
rs1042713	ADRB2 Arg16Gly	Beta-2 adrenergic receptor variant affecting receptor downregulation, exercis...	Fitness & Body	Cardiovascular	Strong
rs1044250	ANGPTL4 T266M	Protective missense variant that reduces LPL inhibition, lowering fasting tri...	Triglycerides & Fatty Acids	Cardiovascular	Moderate
rs1044317	ABCG1 ABCG1 3'UTR variant	3'UTR variant in ABCG1 that may reduce transporter expression, impairing chol...	Cholesterol & Lipoproteins	Cardiovascular	Moderate
rs10455872	LPA	Intronic variant strongly associated with elevated lipoprotein(a) levels and ...	Atherogenic Lipoproteins	Cardiovascular	Established
rs10509679	CYP2C9	Intronic CYP2C9 haplotype tag associated with increased ischemic stroke risk ...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Emerging
rs1057516616	F11 c.25_28del (p.His9fs)	Frameshift deletion in coagulation factor XI causing complete loss of the FXI...	Coagulation & Clotting Factors	Cardiovascular	Strong
rs10766197	CYP2R1	Reduces CYP2R1 promoter activity and hepatic 25-hydroxylase expression, lower...	Vitamin D Metabolism	Cardiovascular	Strong
rs1079128	SLC2A9	Deeply intronic SLC2A9 variant at chromosome 4:9,949,597 (GRCh38) within the ...	Uric Acid & Kidney Function	Cardiovascular	Emerging
rs11072566	NRG4 NRG4 Variant	Common intronic variant at the NRG4 locus; NRG4 is a brown adipose tissue-enr...	Liver Fat	Cardiovascular	Emerging
rs10177833	SLC4A5	Intronic variant in the sodium bicarbonate cotransporter gene strongly associ...	Blood Pressure & Hypertension	Cardiovascular	Strong
rs10195252	GRB14/COBLL1	Intergenic variant between GRB14 and COBLL1 that acts as an eQTL for GRB14 in...	Blood Sugar & Diabetes	Cardiovascular	Strong
rs10305492	GLP1R A316T	Rare protective missense variant in the GLP-1 receptor associated with lower ...	Pharmacogenomics	Cardiovascular	Strong
rs1041981	LTA Thr26Asn (TNFB*2)	Missense variant in lymphotoxin-alpha, a TNF superfamily cytokine essential f...	Innate Immunity & Infection Defense	Cardiovascular	Moderate
rs104894369	MYL2 Arg58Gln	Pathogenic missense variant in the cardiac regulatory myosin light chain caus...	Cardiomyopathy & Structural Heart	Cardiovascular	Established
rs1049255	CYBA CYBA 3'UTR A640G	3'UTR variant in the NADPH oxidase p22-phox subunit affecting superoxide gene...	Vascular Inflammation & Remodeling	Cardiovascular	Moderate
rs1057517151	F11 c.291del (p.Tyr98fs)	Frameshift deletion in coagulation factor XI causing likely-pathogenic partia...	Coagulation & Clotting Factors	Cardiovascular	Moderate
rs1058322	ADIPOR2	Intronic ADIPOR2 variant whose T allele reduces receptor expression in immune...	Fat Storage & Energy	Cardiovascular	Moderate
rs10739076	PLGRKT PLGRKT Plasminogen Receptor/Fibrinolysis	Intergenic PCOS susceptibility locus downstream of PLGRKT (plasminogen recept...	Fertility & Ovarian Function	Cardiovascular	Moderate
rs10846744	SCARB1	Intronic SCARB1 variant associated with altered HDL-receptor function, subcli...	Cholesterol & Lipoproteins	Cardiovascular	Moderate
rs10918594	NOS1AP	Regulatory variant upstream of NOS1AP (CAPON) associated with QT interval pro...	Arrhythmia & Heart Rhythm	Cardiovascular	Strong
rs11220465	ST3GAL4 ST3GAL4 VWF/FVIII Modifier	Common intronic variant in the ST3GAL4 sialyltransferase gene associated with...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Moderate
rs11591147	PCSK9 R46L	Loss-of-function variant that naturally lowers LDL cholesterol by 15-28% and ...	Atherogenic Lipoproteins	Cardiovascular	Established
rs116843064	ANGPTL4 ANGPTL4 E40K	Missense variant that reduces ANGPTL4's inhibition of lipoprotein lipase, low...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs121909547	SERPINC1 Arg79Cys	Pathogenic missense variant in the antithrombin III heparin-binding domain; h...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Established
rs1021737	CTH CTH Ser403Ile	Missense variant in CTH (cystathionine gamma-lyase) that impairs transsulfura...	Blood Pressure & Hypertension	Cardiovascular	Moderate
rs10278336	YKT6 GCK-Region Intronic Variant	Intronic variant in YKT6 immediately downstream of GCK; the A allele is a GWA...	Blood Sugar & Diabetes	Cardiovascular	Moderate
rs10482605	NR3C1	NR3C1 promoter variant reducing glucocorticoid receptor transcription; G alle...	Longevity & Aging	Cardiovascular	Moderate
rs104894502	TPM1 E180G	Rare pathogenic missense variant in cardiac alpha-tropomyosin causing familia...	Cardiomyopathy & Structural Heart	Cardiovascular	Established
rs1048990	PSMA6 PSMA6 -8C>G	5'UTR variant that enhances PSMA6 transcription, amplifying proteasome-driven...	Innate Immunity & Infection Defense	Cardiovascular	Moderate
rs10505806	MGST1	Intergenic variant near MGST1 that modifies whether aspirin/NSAIDs reduce col...	Vascular Inflammation & Remodeling	Cardiovascular	Moderate
rs1052373	MYBPC3	Cardiac myosin-binding protein variant strongly associated with endurance ath...	Fitness & Body	Cardiovascular	Strong
rs1054564	GDF15 GDF15 3'UTR rs1054564	3'UTR variant that controls GDF15 expression via microRNA regulation — C alle...	Endometriosis & Uterine Health	Cardiovascular	Moderate
rs1059369	GDF15 S48T	GDF15 signal-peptide missense variant that tags a haplotype influencing circu...	Fat Storage & Energy	Cardiovascular	Moderate
rs1061170	CFH Y402H	Strongly increases risk of age-related macular degeneration through impaired ...	Skin & Eyes	Cardiovascular	Established
rs1064608	MTCH2 Pro290Ala	Missense variant in MTCH2 that reduces mitochondrial metabolic efficiency, in...	Hormones & Sleep	Cardiovascular	Moderate
rs11057830	SCARB1	Intronic variant in SCARB1 that affects SR-BI receptor function and the intes...	Cholesterol & Lipoproteins	Cardiovascular	Moderate
rs11265611	IL6R	Intronic IL6R variant in LD with the IL-6 receptor signaling locus; G allele ...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Moderate
rs1148259	ANKRD30A	Synonymous variant in the 3′ UTR of ANKRD30A associated with altered circulat...	Metabolic Enzymes & Rare Disorders	Cardiovascular	Emerging
rs11857380	LIPC	Intronic LIPC variant tagging reduced hepatic lipase expression; G allele ass...	Triglycerides & Fatty Acids	Cardiovascular	Moderate
rs121909548	SERPINC1 Cambridge II (A384S)	Missense variant in antithrombin (SERPINC1) that impairs heparin-catalyzed th...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Strong
rs121965063	F11 Glu117Stop (Type II)	Ashkenazi Jewish founder nonsense mutation in coagulation factor XI causing s...	Coagulation & Clotting Factors	Cardiovascular	Established
rs12232375	ZFPM1 ZFPM1 Hematology/Cardiac Locus Variant	Intronic ZFPM1 variant tagging reduced GATA cofactor regulatory activity; the...	Arrhythmia & Heart Rhythm	Cardiovascular	Strong
rs12487736	SCAP SCAP Val798Ile	Missense variant in the SCAP cholesterol-sensor gene (Val798Ile); the C allel...	Atherogenic Lipoproteins	Cardiovascular	Moderate
rs10423928	GIPR	Intronic GIPR variant that reduces functional GIP receptor expression via alt...	Blood Sugar & Diabetes	Cardiovascular	Strong
rs10483099	QDPR	Intronic variant near QDPR that affects BH4 recycling efficiency, influencing...	Methylation & Detox	Cardiovascular	Emerging
rs104894503	TPM1 D175N (Asp175Asn)	Pathogenic alpha-tropomyosin missense variant that increases thin filament ca...	Cardiomyopathy & Structural Heart	Cardiovascular	Established
rs10507391	ALOX5AP SG13S114 intron variant	Intronic ALOX5AP variant in the HapA haplotype; the A allele is associated wi...	Vascular Inflammation & Remodeling	Cardiovascular	Moderate
rs1053049	PPARD 3'UTR variant	3'UTR variant in PPARD that acts as the third tag in the elite athlete haplot...	Fitness & Body	Cardiovascular	Moderate
rs1063537	ADIPOQ	3'UTR variant in ADIPOQ that modulates adiponectin mRNA stability; the common...	Fat Storage & Energy	Cardiovascular	Moderate
rs10841496	PDE3A	5' UTR variant in phosphodiesterase 3A that may alter PDE3A expression, affec...	Blood Pressure & Hypertension	Cardiovascular	Emerging
rs11057841	SCARB1	Intronic variant in SCARB1 that tags a haplotype affecting SR-BI receptor-med...	Cholesterol & Lipoproteins	Cardiovascular	Moderate
rs115532916	ACAD9 ACAD9 Ala326Pro	Pathogenic missense variant in acyl-CoA dehydrogenase family member 9, causin...	Metabolic Enzymes & Rare Disorders	Cardiovascular	Strong
rs11556924	ZC3HC1 R363H	Missense variant in ZC3HC1/NIPA altering cell cycle regulation; the T (His363...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Strong
rs121909567	SERPINC1 Budapest 3 (Leu131Phe)	Pathogenic missense in antithrombin III; the A allele causes type II heparin-...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Established
rs121965064	F11 Phe301Leu (Type III)	Ashkenazi Jewish founder missense mutation in coagulation factor XI causing i...	Coagulation & Clotting Factors	Cardiovascular	Established
rs12593008	LIPC	Intronic LIPC variant in intron 1 associated with low HDL risk, predominantly...	Triglycerides & Fatty Acids	Cardiovascular	Moderate
rs12785878	DHCR7 Near gene T>G	Influences vitamin D synthesis by regulating how much 7-dehydrocholesterol is...	Vitamin D Metabolism	Cardiovascular	Strong
rs137852912	PCSK9 D374Y	The most severe gain-of-function PCSK9 mutation, increasing LDLR-binding affi...	Atherogenic Lipoproteins	Cardiovascular	Established
rs17175830	ZFPM1 ZFPM1 intronic variant	Intronic variant in ZFPM1 (FOG1), the master transcriptional co-regulator of ...	Arrhythmia & Heart Rhythm	Cardiovascular	Strong
rs1044498	ENPP1 K121Q	ENPP1 K121Q variant that increases ENPP1 binding affinity to the insulin rece...	Blood Sugar & Diabetes	Cardiovascular	Strong
rs1045642	ABCB1 C3435T	Synonymous variant in P-glycoprotein affecting drug efflux pump expression an...	Pharmacogenomics	Cardiovascular	Moderate
rs1048943	CYP1A1 Ile462Val (*2C)	Phase I detoxification enzyme that activates polycyclic aromatic hydrocarbons...	Methylation & Detox	Cardiovascular	Strong
rs104894654	DTNA P121L	Missense variant in alpha-dystrobrevin disrupting the EF-hand calcium-binding...	Cardiomyopathy & Structural Heart	Cardiovascular	Emerging
rs1060502576	BMPR2	Rare stop-gain variant in BMPR2 (p.Trp466Ter) that truncates the kinase domai...	Vascular Inflammation & Remodeling	Cardiovascular	Established
rs10759931	TLR4 -2604G>A	Promoter variant in Toll-like receptor 4 that drives higher TLR4 expression a...	Innate Immunity & Infection Defense	Cardiovascular	Moderate
rs10848554	ADIPOR2	Intronic ADIPOR2 variant co-associated with cardiovascular disease risk in in...	Fat Storage & Energy	Cardiovascular	Moderate
rs10852521	FTO	FTO intron 1 variant associated with BMI and body fat accumulation, with stro...	Fitness & Body	Cardiovascular	Moderate
rs10882398	PLCE1	Intronic PLCE1 variant where the A allele raises systolic blood pressure and ...	Blood Pressure & Hypertension	Cardiovascular	Strong
rs10936599	TERC Near gene (3q26.2)	Near-TERC regulatory variant where the minor T allele associates with shorter...	Longevity & Aging	Cardiovascular	Established
rs1125226	CYP7A1 CYP7A1 upstream promoter variant	Upstream regulatory variant in CYP7A1 that tags haplotypes affecting bile aci...	Cholesterol & Lipoproteins	Cardiovascular	Emerging
rs11881940	HNRNPUL1	Intronic variant in HNRNPUL1, an RNA-processing gene highly expressed in macr...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Moderate
rs121909569	SERPINC1 Ser148Pro	Likely pathogenic missense variant in antithrombin III; the G allele converts...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Strong
rs1260326	GCKR P446L	Coding GCKR variant (Pro446Leu) that directly reduces GCKRP sensitivity to fr...	Liver Fat	Cardiovascular	Strong
rs12678919	LPL	Intergenic variant 19 kb downstream of lipoprotein lipase (LPL) that tags a r...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs13412535	SERPINE2	Intronic regulatory variant in SERPINE2 that modulates expression of Protease...	Coagulation & Clotting Factors	Cardiovascular	Strong
rs137853964	LDLR Val827Ile / Val827Phe	LDLR missense variant at position 827 within the cytoplasmic NPXY internaliza...	Atherogenic Lipoproteins	Cardiovascular	Moderate
rs16930609	CYP2R1	Upstream regulatory variant in CYP2R1 that tags a haplotype associated with r...	Vitamin D Metabolism	Cardiovascular	Moderate
rs1805123	KCNH2 K897T	Common KCNH2 missense variant that alters hERG potassium channel kinetics, sh...	Arrhythmia & Heart Rhythm	Cardiovascular	Strong
rs10405121	CACNA1A	Common intronic variant in CACNA1A — the P/Q-type calcium channel gene mutate...	Neurology & Cognition	Cardiovascular	Strong
rs104894664	TTR Ala45Thr (A25T)	Rare pathogenic TTR missense variant causing hereditary transthyretin amyloid...	Cardiomyopathy & Structural Heart	Cardiovascular	Strong
rs1060502581	BMPR2	Nonsense variant in BMPR2 introducing a premature stop codon (p.Arg321Ter) th...	Vascular Inflammation & Remodeling	Cardiovascular	Established
rs10865710	PPARG PPARG C-681G	PPARG promoter-region enhancer variant that reduces PPARgamma expression, inc...	Fat Storage & Energy	Cardiovascular	Moderate
rs11568822	APOC1 APOC1 HCR-1 promoter variant	Promoter insertion variant in APOC1 that increases gene transcription by 50%,...	Cholesterol & Lipoproteins	Cardiovascular	Moderate
rs1173771	NPR3 NPR3 promoter variant	Regulatory variant near the NPR3 transcription start site that reduces natriu...	Blood Pressure & Hypertension	Cardiovascular	Strong
rs11942223	SLC2A9	Intronic SLC2A9 variant tagging an independent urate-transport signal; the pr...	Uric Acid & Kidney Function	Cardiovascular	Strong
rs12095080	DIO1 DIO1 cardiac mortality variant	3' UTR variant in the type 1 deiodinase gene associated with markedly increas...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Emerging
rs121918473	PROS1 Asn258Ser	Pathogenic PROS1 missense variant in the fourth EGF domain of protein S; hete...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Strong
rs13236689	CD36	Intronic CD36 variant that acts as a platelet eQTL, modulating CD36 surface e...	Triglycerides & Fatty Acids	Cardiovascular	Moderate
rs1378577	ABCG1 ABCG1 ischemic stroke variant	Regulatory variant ~2kb upstream of ABCG1 that modulates transporter expressi...	Atherogenic Lipoproteins	Cardiovascular	Moderate
rs1776897	HMGA1	Chromatin remodeling variant near HMGA1 associated with waist-to-hip ratio an...	Liver Fat	Cardiovascular	Moderate
rs1799889	SERPINE1 PAI-1 4G/5G Promoter	Promoter insertion/deletion polymorphism that controls PAI-1 (plasminogen act...	Coagulation & Clotting Factors	Cardiovascular	Strong
rs1993116	CYP2R1 CYP2R1 rs1993116	Intronic regulatory variant in CYP2R1 that reduces hepatic vitamin D 25-hydro...	Vitamin D Metabolism	Cardiovascular	Moderate
rs199473521	KCNH2 K595N	Ultra-rare KCNH2 missense variant substituting asparagine for lysine at posit...	Arrhythmia & Heart Rhythm	Cardiovascular	Moderate
rs104894797	DMD Arg3182Ter (R3182*)	Pathogenic nonsense variant in dystrophin creating a premature stop codon at ...	Cardiomyopathy & Structural Heart	Cardiovascular	Established
rs10889160	CYP2J2	Intronic CYP2J2 tag SNP; the C allele marks a haplotype associated with reduc...	Vascular Inflammation & Remodeling	Cardiovascular	Moderate
rs11206244	DIO1 C785T	Common variant in the 3' UTR of the DIO1 gene affecting thyroid hormone metab...	Hormones & Sleep	Cardiovascular	Strong
rs121918474	PROS1 K196E (Lys196Glu)	Pathogenic missense variant in protein S causing autosomal dominant thromboph...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Established
rs12402521	PDC	Intronic PDC variant in the phosducin gene — G homozygotes show 12–15 mmHg hi...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Moderate
rs1256335	ALPL	Intronic variant near ALPL associated with increased alkaline phosphatase act...	Vitamins & Nutrient Absorption	Cardiovascular	Strong
rs13702	LPL	LPL 3'UTR variant disrupting a microRNA-410 binding site; the C allele abolis...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs1799963	F2 G20210A	Second most common inherited thrombophilia; the A allele raises prothrombin l...	Coagulation & Clotting Factors	Cardiovascular	Established
rs1800588	LIPC -514C>T	Promoter variant that reduces hepatic lipase activity, raising HDL-C levels b...	Atherogenic Lipoproteins	Cardiovascular	Strong
rs1800591	MTTP MTTP -493G/T	Promoter-region variant in MTTP that reduces hepatic MTTP transcription; the ...	Liver Fat	Cardiovascular	Moderate
rs2060793	CYP2R1	Upstream regulatory variant in CYP2R1 that reduces hepatic 25-hydroxylase exp...	Vitamin D Metabolism	Cardiovascular	Strong
rs2200733	PITX2 PITX2 4q25 AF susceptibility variant	Intergenic variant at chromosome 4q25 near PITX2 — the strongest GWAS signal ...	Arrhythmia & Heart Rhythm	Cardiovascular	Strong
rs104894805	EMD Pro183His (P183H)	Pathogenic missense variant in emerin that weakens nuclear lamina interaction...	Cardiomyopathy & Structural Heart	Cardiovascular	Established
rs1050450	GPX1 Pro198Leu	Selenium-dependent antioxidant enzyme that neutralizes hydrogen peroxide; the...	Methylation & Detox	Cardiovascular	Strong
rs1058932	CYP2C8	CYP2C8 3-prime UTR variant associated with cardiovascular risk via altered ep...	Pharmacogenomics	Cardiovascular	Moderate
rs10958409	SOX17	Intergenic variant near SOX17 at 8q11 that reduces expression of this endothe...	Vascular Inflammation & Remodeling	Cardiovascular	Strong
rs11061937	ADIPOR2 ADIPOR2 rs11061937	Intronic ADIPOR2 variant associated with cardiovascular disease risk in indiv...	Fat Storage & Energy	Cardiovascular	Moderate
rs11555236	SIRT3	Intronic regulatory variant near the SIRT3 VNTR enhancer — the A allele incre...	Longevity & Aging	Cardiovascular	Moderate
rs121918383	APOB APOB Arg1333Ter	Nonsense mutation in APOB creating a premature stop codon at position 1333, t...	Cholesterol & Lipoproteins	Cardiovascular	Strong
rs121918475	PROS1 Q279X	Pathogenic nonsense variant in protein S that eliminates the anticoagulant co...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Established
rs12740374	SORT1 1p13.3 locus	Regulatory variant that increases sortilin expression, lowering LDL cholester...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Established
rs13193677	TRAF3IP2	Intronic variant near the TRAF3IP2 locus (annotated in IPCEF1 at chr6q25.2 by...	Psoriasis & Spondyloarthropathy	Cardiovascular	Moderate
rs150090666	PDE3B PDE3B R783X	Loss-of-function variant in phosphodiesterase 3B — carriers have enhanced cAM...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs17249754	ATP2B1	Intronic variant in the ATP2B1 calcium pump gene; the common G allele reduces...	Blood Pressure & Hypertension	Cardiovascular	Strong
rs1800595	F5 HR2 haplotype (H1299R / R2)	Factor V HR2 haplotype — a missense variant that mildly impairs the anticoagu...	Coagulation & Clotting Factors	Cardiovascular	Moderate
rs1800871	IL10 -819 C>T	Promoter variant in the IL-10 haplotype system — regulates IL-10 anti-inflamm...	Interferon Signaling & Systemic Autoimmune	Cardiovascular	Strong
rs1801690	APOH Trp316Ser	Missense variant in APOH (beta-2-glycoprotein I) that disrupts the phospholip...	Atherogenic Lipoproteins	Cardiovascular	Moderate
rs199673455	GPD1	Pathogenic missense variant in glycerol-3-phosphate dehydrogenase 1; homozygo...	Liver Fat	Cardiovascular	Strong
rs2228570	VDR FokI C>T	Vitamin D receptor start codon variant — determines receptor protein length a...	Vitamin D Metabolism	Cardiovascular	Strong
rs28634651	ZFPM1	Common intronic variant in the FOG1 megakaryocyte transcription factor gene t...	Arrhythmia & Heart Rhythm	Cardiovascular	Moderate
rs10519177	FBN1	Intronic FBN1 variant that requires two copies of the G allele to impair fibr...	Cardiomyopathy & Structural Heart	Cardiovascular	Emerging
rs11572325	CYP2J2	Intronic CYP2J2 variant associated with increased myocardial infarction risk ...	Vascular Inflammation & Remodeling	Cardiovascular	Moderate
rs121918384	APOB APOB Val1856fs	Frameshift deletion in APOB causing truncated apolipoprotein B-100, reducing ...	Cholesterol & Lipoproteins	Cardiovascular	Strong
rs121918393	APOE Christchurch (R136S)	Ultra-rare APOE3 missense variant that dramatically reduces HSPG binding and ...	Longevity & Aging	Cardiovascular	Strong
rs121918476	PROS1 Arg561Trp	Pathogenic PROS1 missense variant in the SHBG-like domain that impairs protei...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Strong
rs12917707	UMOD	Uromodulin promoter variant — strongest GWAS signal for chronic kidney diseas...	Uric Acid & Kidney Function	Cardiovascular	Established
rs13324341	MRAS	Intronic MRAS variant that creates a MEF2 transcription factor binding site i...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Strong
rs1532085	LIPC	Intronic eQTL that reduces hepatic lipase expression, raising HDL-C levels wh...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs1743963	SGK1	Intronic SGK1 variant associated with depression susceptibility in coronary h...	Blood Pressure & Hypertension	Cardiovascular	Emerging
rs1799945	HFE H63D	Second most common hereditary hemochromatosis variant, mildly increasing iron...	Iron & Mineral Transport	Cardiovascular	Established
rs1800787	FGB -148C>T	Upstream promoter variant in fibrinogen beta chain that elevates circulating ...	Coagulation & Clotting Factors	Cardiovascular	Strong
rs1800896	IL10 -1082 A>G	Promoter variant affecting IL-10 production — the master anti-inflammatory cy...	Interferon Signaling & Systemic Autoimmune	Cardiovascular	Strong
rs186021206	ASGR1	Intergenic tag SNP 7.3 kb downstream of ASGR1; the rare A allele proxies the ...	Atherogenic Lipoproteins	Cardiovascular	Strong
rs2228603	NCAN T130M (Pro92Ser)	Missense variant in neurocan associated with hepatic steatosis, liver inflamm...	Liver Fat	Cardiovascular	Moderate
rs28937317	SCN5A N1325S	Rare gain-of-function missense variant in the cardiac sodium channel Nav1.5 c...	Arrhythmia & Heart Rhythm	Cardiovascular	Established
rs1057518309	DSP Arg451Gly	Rare pathogenic missense variant in desmoplakin that enhances calpain-mediate...	Cardiomyopathy & Structural Heart	Cardiovascular	Strong
rs11172113	LRP1	Intronic enhancer variant in LRP1 that regulates receptor expression in brain...	Fat Storage & Energy	Cardiovascular	Moderate
rs11967262	VEGFA	Regulatory variant ~7 kb upstream of VEGFA linked to elevated varicose vein r...	Vascular Inflammation & Remodeling	Cardiovascular	Moderate
rs121918385	APOB APOB Glu4034fs	Frameshift deletion in APOB that truncates apolipoprotein B, causing familial...	Cholesterol & Lipoproteins	Cardiovascular	Strong
rs13154066	NPR3	Regulatory variant near the NPR3 natriuretic peptide clearance receptor gene ...	Endometriosis & Uterine Health	Cardiovascular	Strong
rs1333040	CDKN2B-AS1	9p21 locus variant in the ANRIL long non-coding RNA gene associated with intr...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Strong
rs1535	FADS2	Intronic FADS2 variant with stronger independent associations than rs174575 f...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs1799998	CYP11B2 -344C>T	Promoter variant in aldosterone synthase increasing CYP11B2 transcription, as...	Blood Pressure & Hypertension	Cardiovascular	Moderate
rs1800380	VWF Arg960= (synonymous)	Common synonymous variant in the VWF D2/D' domain region; the T allele is par...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Strong
rs1800562	HFE C282Y	Primary variant causing hereditary hemochromatosis type 1, disrupting iron re...	Iron & Mineral Transport	Cardiovascular	Established
rs1800629	TNF -308 G>A	Promoter variant increasing TNF-alpha production approximately 2-fold, associ...	TNF, NF-kB & Inflammatory Cytokines	Cardiovascular	Strong
rs1800788	FGB -854G>A	Upstream promoter variant in fibrinogen beta chain that increases IL-6-driven...	Coagulation & Clotting Factors	Cardiovascular	Moderate
rs2131925	ANGPTL3 DOCK7/ANGPTL3 Locus Tag SNP	Intronic tag SNP in the DOCK7/ANGPTL3 region; the T allele is associated with...	Atherogenic Lipoproteins	Cardiovascular	Strong
rs28937319	SCN5A SCN5A Cardiac Sodium Channel Variant 2	Rare loss-of-function missense variant in the cardiac sodium channel Nav1.5 c...	Arrhythmia & Heart Rhythm	Cardiovascular	Strong
rs10811661	CDKN2B	Regulatory variant upstream of CDKN2A/CDKN2B at the 9p21 locus; the T risk al...	Blood Sugar & Diabetes	Cardiovascular	Strong
rs111517471	PKP2	Splice donor variant in plakophilin-2 that disrupts mRNA splicing at an exon–...	Cardiomyopathy & Structural Heart	Cardiovascular	Strong
rs1205	CRP +1846C>T	3' UTR variant that modulates baseline C-reactive protein levels and inflamma...	Vascular Inflammation & Remodeling	Cardiovascular	Strong
rs121918386	APOB APOB Arg2085Ter	Nonsense mutation in APOB creating a premature stop codon at position 2085, p...	Cholesterol & Lipoproteins	Cardiovascular	Strong
rs12212067	FOXO3	Intronic FOXO3 variant whose minor G allele creates an MZF1 transcription fac...	Longevity & Aging	Cardiovascular	Strong
rs17301739	LIPC	Intronic LIPC variant associated with circulating DHA and omega-3 fatty acid ...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs1799750	MMP1 1G/2G	Promoter polymorphism affecting MMP1 expression and collagen degradation rate...	Skin & Eyes	Cardiovascular	Strong
rs1800386	VWF Tyr1584Cys	Low-penetrance variant in von Willebrand factor that causes enhanced protein ...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Strong
rs1800730	HFE S65C	Third HFE variant associated with hemochromatosis; mildly impairs iron regula...	Iron & Mineral Transport	Cardiovascular	Moderate
rs1800789	FGB -249G>A	Upstream promoter variant in fibrinogen beta chain that is associated with lo...	Coagulation & Clotting Factors	Cardiovascular	Moderate
rs2004776	AGT	Intronic regulatory variant in angiotensinogen intron I that enhances HNF3β t...	Blood Pressure & Hypertension	Cardiovascular	Strong
rs2282679	GC	Intronic GWAS tag variant in the vitamin D binding protein gene, the stronges...	Vitamin D Metabolism	Cardiovascular	Established
rs28942111	PCSK9 S127R	Gain-of-function PCSK9 missense variant (Ser127Arg) causing autosomal dominan...	Atherogenic Lipoproteins	Cardiovascular	Established
rs2911463	PIEZO1	Intronic variant in PIEZO1, the endothelial mechanosensory ion channel that s...	Arrhythmia & Heart Rhythm	Cardiovascular	Strong
rs10885122	ADRA2A ADRA2A Beta-Cell cAMP Variant	Intergenic variant near ADRA2A that modulates alpha-2A adrenergic receptor ex...	Blood Sugar & Diabetes	Cardiovascular	Moderate
rs11570112	MYBPC3 Gln998X	Pathogenic truncating variant in cardiac myosin-binding protein C causing hap...	Cardiomyopathy & Structural Heart	Cardiovascular	Established
rs121918387	APOB ApoB-67 frameshift	Single-nucleotide deletion in APOB creating a truncated apolipoprotein B (Apo...	Cholesterol & Lipoproteins	Cardiovascular	Strong
rs12696304	TERC	Regulatory variant near the telomerase RNA gene associated with shorter telom...	Longevity & Aging	Cardiovascular	Established
rs12704795	PON2 PON2 intron 1 variant	Intronic PON2 haplotype tag; the A allele is associated with reduced intracel...	Vascular Inflammation & Remodeling	Cardiovascular	Moderate
rs12970134	MC4R MC4R region variant	Near-gene variant ~188kb downstream of MC4R associated with increased waist c...	Appetite & Obesity	Cardiovascular	Strong
rs1360590	CDKN2BAS	Intronic variant in ANRIL at the 9p21.3 locus — the shared susceptibility reg...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Moderate
rs1611115	DBH -1021C>T	Strongest known genetic determinant of dopamine beta-hydroxylase activity, co...	Mood & Behavior	Cardiovascular	Strong
rs16890979	SLC2A9	Missense variant in the GLUT9 renal urate transporter; the T allele (Val→Ile ...	Uric Acid & Kidney Function	Cardiovascular	Moderate
rs17321515	TRIB1	Near-gene variant 30–44 kb downstream of TRIB1; A allele raises triglycerides...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs1800790	FGB -455G>A	Promoter variant in the fibrinogen beta-chain gene that upregulates FGB trans...	Coagulation & Clotting Factors	Cardiovascular	Strong
rs2070699	EDN1 EDN1 G2288T Intronic Variant	Intronic EDN1 variant modulating endothelin-1 expression; the T allele associ...	Blood Pressure & Hypertension	Cardiovascular	Moderate
rs216311	VWF Thr1381Ala	Missense variant in VWF at codon 1381 (Thr→Ala); the Ala allele (C on plus st...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Moderate
rs2303729	LTBP4	Missense variant in LTBP4 encoding Val194Ile; the A allele (Ile) forms the IA...	Gamete Quality & DNA Repair	Cardiovascular	Strong
rs2968863	KCNH2	Intergenic variant near KCNH2 (hERG potassium channel) at 7q36.1 that shorten...	Arrhythmia & Heart Rhythm	Cardiovascular	Moderate
rs3798220	LPA Ile4399Met (I4399M)	Missense variant in the protease-like domain of apolipoprotein(a) causing mar...	Atherogenic Lipoproteins	Cardiovascular	Strong
rs11136000	CLU	Intronic variant in clusterin gene affecting Alzheimer's disease risk through...	Neurology & Cognition	Cardiovascular	Established
rs11590235	SKI	TGF-beta signaling regulator variant identified as the top shared locus betwe...	Cardiomyopathy & Structural Heart	Cardiovascular	Moderate
rs121918388	APOB APOB Q2279X	Nonsense variant creating a premature stop codon at amino acid 2279 of apolip...	Cholesterol & Lipoproteins	Cardiovascular	Strong
rs13107325	SLC39A8 A391T	Zinc and manganese transporter variant that reduces metal ion absorption, aff...	IBD & Mucosal Immunity	Cardiovascular	Strong
rs137852641	NOTCH3	Pathogenic NOTCH3 missense variant p.Arg332Cys that alters the cysteine count...	Vascular Inflammation & Remodeling	Cardiovascular	Established
rs137852769	HADHA p.Glu510Gln	Most common LCHAD deficiency variant; homozygosity causes severe mitochondria...	Metabolic Enzymes & Rare Disorders	Cardiovascular	Established
rs1501299	ADIPOQ +276G>T	Intronic variant in the adiponectin gene that influences circulating adiponec...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Moderate
rs16147	NPY C-399T	Promoter variant in neuropeptide Y that modulates NPY expression under stress...	Mood & Behavior	Cardiovascular	Moderate
rs174535	MYRF	Missense variant in the MYRF/FADS gene cluster region on chromosome 11 associ...	Triglycerides & Fatty Acids	Cardiovascular	Moderate
rs1801020	F12 46C>T	5' UTR variant that reduces Factor XII translation efficiency, lowering plasm...	Coagulation & Clotting Factors	Cardiovascular	Moderate
rs1898830	TLR2	Intronic TLR2 variant that modulates innate immune signaling intensity; G all...	Innate Immunity & Infection Defense	Cardiovascular	Moderate
rs2018643	SLC2A9 SLC2A9 rs2018643	Intronic SLC2A9 variant at the major urate-transporter locus on chromosome 4;...	Uric Acid & Kidney Function	Cardiovascular	Moderate
rs2270915	NPR3 N521D	Missense variant in NPR3 clearance receptor disrupting Gi protein coupling, i...	Blood Pressure & Hypertension	Cardiovascular	Moderate
rs2288904	SLC44A2 R154Q	Missense variant that impairs platelet-neutrophil binding and blocks flow-dep...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Strong
rs2968864	KCNH2 KCNH2 QT interval GWAS variant (7q36.1)	Intergenic variant at 7q36.1 near KCNH2 (hERG potassium channel) that modulat...	Arrhythmia & Heart Rhythm	Cardiovascular	Strong
rs3829251	NADSYN1	Intronic NADSYN1 variant at the DHCR7/NADSYN1 vitamin D locus; A allele was t...	Vitamin D Metabolism	Cardiovascular	Strong
rs4149338	ABCA1 ABCA1 3'UTR Stroke-Associated Variant	3'UTR variant in the ATP-binding cassette transporter A1 gene; the G allele (...	Atherogenic Lipoproteins	Cardiovascular	Emerging
rs121918389	APOB Q1477X (apoB-32)	Nonsense mutation producing a severely truncated apolipoprotein B (apoB-32) t...	Cholesterol & Lipoproteins	Cardiovascular	Strong
rs128627256	DMD Arg2905Ter (R2905X)	Nonsense variant in dystrophin that eliminates full-length protein, causing X...	Cardiomyopathy & Structural Heart	Cardiovascular	Established
rs13217795	FOXO3	Original 2008 Willcox longevity discovery variant; C allele tags the protecti...	Longevity & Aging	Cardiovascular	Strong
rs13900	CCL2 CCL2 3'UTR variant	3'UTR variant that increases CCL2 mRNA stability via enhanced HuR binding, el...	Vascular Inflammation & Remodeling	Cardiovascular	Moderate
rs17228212	SMAD3	Intronic variant in the TGF-beta signaling gene SMAD3 associated with vascula...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Moderate
rs174537	FADS1	Regulatory variant in the FADS1 locus that controls delta-5 desaturase expres...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs17782313	MC4R Near-gene C>T	Intergenic variant 188kb downstream of MC4R affecting appetite regulation, me...	Appetite & Obesity	Cardiovascular	Strong
rs201007090	F11 Trp519Stop	Nonsense mutation in coagulation factor XI creating a premature stop codon, c...	Coagulation & Clotting Factors	Cardiovascular	Established
rs2078267	SLC22A11	Intronic variant in the OAT4 renal urate transporter that modulates uric acid...	Uric Acid & Kidney Function	Cardiovascular	Strong
rs2301612	ADAMTS13 Q448E	Common ADAMTS13 missense variant substituting glutamate for glutamine at posi...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Moderate
rs2681472	ATP2B1	Intronic regulatory variant near the PMCA1 calcium pump gene, one of the most...	Blood Pressure & Hypertension	Cardiovascular	Strong
rs397508068	KCNQ1 Phe340del	Pathogenic in-frame 3-bp deletion in the KCNQ1 potassium channel that removes...	Arrhythmia & Heart Rhythm	Cardiovascular	Established
rs4225	APOC3 APOC3 3'UTR c.*71G>T	3'UTR variant that creates a microRNA-4271 binding site; the T allele suppres...	Atherogenic Lipoproteins	Cardiovascular	Moderate
rs4588	GC Thr436Lys	Alters vitamin D binding protein affinity, affecting total and bioavailable 2...	Vitamin D Metabolism	Cardiovascular	Strong
rs1175543	PPARG PPARG rs1175543	Intronic PPARG variant in strong linkage disequilibrium with rs709158; the G ...	Fat Storage & Energy	Cardiovascular	Emerging
rs121918390	APOB APOB R2522X	Nonsense mutation truncating apolipoprotein B at residue 2522, causing famili...	Cholesterol & Lipoproteins	Cardiovascular	Strong
rs1333049	CDKN2B-AS1 9p21 locus	Strongest GWAS signal for coronary artery disease; risk C allele accelerates ...	Longevity & Aging	Cardiovascular	Established
rs140597	FBN1 D1113G	Pathogenic missense variant in fibrillin-1 replacing the calcium-coordinating...	Cardiomyopathy & Structural Heart	Cardiovascular	Strong
rs16944	IL1B -511C>T	Promoter variant affecting IL-1 beta production, influencing inflammatory res...	Vascular Inflammation & Remodeling	Cardiovascular	Strong
rs174541	FADS1 FADS1 C>G (delta-5 desaturase depth)	Intronic regulatory variant in FADS1 that reduces delta-5 desaturase expressi...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs1746048	CXCL12	Regulatory variant 80 kb downstream of CXCL12 on chromosome 10q11; the T alle...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Strong
rs2066865	FGG 10034C>T	3' region variant in the fibrinogen gamma chain gene that shifts the gamma/ga...	Coagulation & Clotting Factors	Cardiovascular	Strong
rs2317676	ITGB3	3' UTR variant in the platelet glycoprotein IIIa gene (ITGB3/GPIIIa) that dis...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Moderate
rs35929607	STK39	Intronic variant in the SPAK kinase gene that has been studied for associatio...	Blood Pressure & Hypertension	Cardiovascular	Emerging
rs3733585	SLC2A9	Intronic SLC2A9 variant (coding-strand T/C) within the major renal urate tran...	Uric Acid & Kidney Function	Cardiovascular	Emerging
rs397508072	KCNQ1 Q356X	Nonsense mutation in the cardiac IKs potassium channel causing premature prot...	Arrhythmia & Heart Rhythm	Cardiovascular	Established
rs4253623	PPARA	Intronic PPARA variant whose minor G allele has been associated with modest m...	Atherogenic Lipoproteins	Cardiovascular	Emerging
rs121918391	APOB APOB Tyr1200Ter	Rare APOB stop-gain variant that truncates apolipoprotein B to ~27% of its fu...	Cholesterol & Lipoproteins	Cardiovascular	Strong
rs12721627	CYP3A4 *16	Missense variant reducing CYP3A4 enzyme activity by 50–74% depending on subst...	Pharmacogenomics	Cardiovascular	Moderate
rs1600482909	JPH2 Ser101Arg	Rare pathogenic missense variant in junctophilin-2 that disrupts T-tubule/sar...	Cardiomyopathy & Structural Heart	Cardiovascular	Strong
rs17222814	ALOX5AP SG13S114 (HapB tag)	Intronic ALOX5AP variant tagging the HapB risk haplotype; the A allele marks ...	Vascular Inflammation & Remodeling	Cardiovascular	Moderate
rs174546	FADS1	3'UTR regulatory variant in FADS1 that disrupts a miR-149-5p binding site, re...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs17465637	MIA3	Intronic variant in MIA3/TANGO1 affecting collagen secretion and vascular smo...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Strong
rs267607326	VWF Y1146C	Pathogenic missense variant in the VWF D3 domain causing von Willebrand disea...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Established
rs2731672	F12	Regulatory tag variant in the Factor XII locus associated with plasma FXII ac...	Coagulation & Clotting Factors	Cardiovascular	Strong
rs3733590	SLC2A9	Intronic SLC2A9 variant tagging the GLUT9 urate-transport locus; the C allele...	Uric Acid & Kidney Function	Cardiovascular	Emerging
rs3754777	STK39	Intronic STK39 variant that increases SPAK kinase expression, enhancing phosp...	Blood Pressure & Hypertension	Cardiovascular	Moderate
rs397508075	KCNQ1 KCNQ1 Long QT Type 1 Variant 3	Pathogenic nonsense variant (Q359X) in KCNQ1 that truncates the IKs potassium...	Arrhythmia & Heart Rhythm	Cardiovascular	Established
rs505151	PCSK9 E670G	Common missense variant in PCSK9 exon 12 where the rare G allele raises LDL c...	Atherogenic Lipoproteins	Cardiovascular	Moderate
rs6013897	CYP24A1	Near-gene regulatory variant affecting vitamin D 24-hydroxylase expression — ...	Vitamin D Metabolism	Cardiovascular	Strong
rs11558471	SLC30A8 SLC30A8 Zinc Transport Depth Variant	3-prime UTR variant in the SLC30A8 zinc transporter gene that alters ZnT8 mRN...	Blood Sugar & Diabetes	Cardiovascular	Strong
rs12447924	CETP	Upstream promoter variant in CETP that tags the HDL-raising haplotype block —...	Cholesterol & Lipoproteins	Cardiovascular	Moderate
rs1524107	IL6	Intronic IL6 variant tagging a low-producing haplotype — the T allele is prot...	Longevity & Aging	Cardiovascular	Moderate
rs17222842	ALOX5AP ALOX5AP variant (SG13S32)	Intronic ALOX5AP haplotype tag; the common G allele marks the HapB cardiovasc...	Vascular Inflammation & Remodeling	Cardiovascular	Moderate
rs174547	FADS1	Omega-3 fatty acid conversion efficiency - affects ability to make EPA/DHA fr...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs17514846	FURIN	Intronic regulatory variant modulating FURIN expression via allele-specific D...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Strong
rs187830361	MYBPC3 Trp792Arg (W792R)	Ultra-rare pathogenic missense variant in the C6 fibronectin domain of cardia...	Cardiomyopathy & Structural Heart	Cardiovascular	Strong
rs228921	TMPRSS6 TMPRSS6 iron regulation variant	Upstream regulatory variant near TMPRSS6 that independently lowers hemoglobin...	Iron & Mineral Transport	Cardiovascular	Strong
rs267607352	VWF W1745C	Missense variant in the VWF A3 collagen-binding domain causing isolated colla...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Strong
rs3733591	SLC2A9 Arg265His	Missense variant in the major renal urate transporter; the Arg265 (C) allele ...	Uric Acid & Kidney Function	Cardiovascular	Strong
rs3755351	ADD2	Intronic variant in beta-adducin modulating renal Na+/K+-ATPase trafficking a...	Blood Pressure & Hypertension	Cardiovascular	Emerging
rs397508077	KCNQ1 Long QT Type 1 Variant 4 (c.1124_1127del)	Pathogenic 4bp frameshift deletion in KCNQ1 that eliminates the IKs potassium...	Arrhythmia & Heart Rhythm	Cardiovascular	Established
rs4220	FGB Arg448Lys (R448K)	Missense variant in the fibrinogen beta chain that elevates circulating fibri...	Coagulation & Clotting Factors	Cardiovascular	Moderate
rs5128	APOC3 3238C>G (SstI)	Regulates triglyceride metabolism through effects on APOC3 expression in the ...	Atherogenic Lipoproteins	Cardiovascular	Strong
rs58542926	TM6SF2 E167K	Lipid transport variant that impairs VLDL secretion, creating a paradoxical t...	Liver Fat	Cardiovascular	Strong
rs1138272	GSTP1 Ala114Val	Second functional variant in glutathione S-transferase Pi 1, reducing enzyme ...	Methylation & Detox	Cardiovascular	Moderate
rs1169288	HNF1A HNF1A Ile27Leu	Common coding variant in the HNF1A transcription factor dimerization domain t...	Blood Sugar & Diabetes	Cardiovascular	Strong
rs12686004	ABCA1	Intronic ABCA1 variant associated with population differences in HDL choleste...	Cholesterol & Lipoproteins	Cardiovascular	Emerging
rs16847897	TERC	Regulatory variant at the TERC locus associated with shorter telomeres and ac...	Longevity & Aging	Cardiovascular	Strong
rs174548	FADS1	Intronic regulatory variant in FADS1 that reduces delta-5 desaturase expressi...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs17576	MMP9 MMP9 Q279R	Missense variant in the MMP9 fibronectin type II domain affecting matrix meta...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Moderate
rs17697419	VEGFC	Intronic variant in the primary lymphangiogenesis growth factor gene; the min...	Vascular Inflammation & Remodeling	Cardiovascular	Moderate
rs193922239	FBN1	Pathogenic missense variant in fibrillin-1 replacing glycine 2627 with argini...	Cardiomyopathy & Structural Heart	Cardiovascular	Strong
rs2413450	TMPRSS6 TMPRSS6 iron regulation variant	Intronic TMPRSS6 variant associated with lower MCV, MCH, and hemoglobin level...	Iron & Mineral Transport	Cardiovascular	Strong
rs267607353	VWF S1783A	Rare pathogenic missense variant in the VWF A3 collagen-binding domain causin...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Strong
rs28362491	NFKB1 -94ins/delATTG	Promoter insertion/deletion polymorphism reducing NF-κB p50 transcription and...	Innate Immunity & Infection Defense	Cardiovascular	Strong
rs33912345	SIX6 Asn141His	Affects optic nerve development and retinal ganglion cell survival, strongly ...	Skin & Eyes	Cardiovascular	Strong
rs3825016	SLC22A12	Synonymous coding variant in the URAT1 renal urate transporter; the C allele ...	Uric Acid & Kidney Function	Cardiovascular	Moderate
rs3865418	NEDD4L	Intronic NEDD4L variant that tags reduced ubiquitin-ligase activity toward th...	Blood Pressure & Hypertension	Cardiovascular	Moderate
rs422187	F9 Intronic F9 variant	Intronic variant in the Factor IX gene in near-perfect linkage disequilibrium...	Coagulation & Clotting Factors	Cardiovascular	Moderate
rs5174	LRP8 LRP8 R952Q	Missense variant in LRP8 (ApoER2) replacing arginine with glutamine at positi...	Atherogenic Lipoproteins	Cardiovascular	Moderate
rs57875989	PER3 PER3 VNTR (4/5 repeat)	Coding VNTR in exon 18 of the circadian clock gene PER3; 4-repeat vs 5-repeat...	Arrhythmia & Heart Rhythm	Cardiovascular	Moderate
rs613084	CPT1A CPT1A carnitine shuttle variant	Intronic variant that influences CPT1A expression and fatty acid oxidation ca...	Liver Fat	Cardiovascular	Moderate
rs12713559	APOB APOB R3558C	Rare APOB missense variant reducing LDL-receptor binding affinity by ~40-50%,...	Cholesterol & Lipoproteins	Cardiovascular	Moderate
rs174553	FADS1	Intronic variant in the FADS1 gene cluster that reduces delta-5 desaturase ac...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs17697515	VEGFC	Intronic VEGFC variant independently associated with reduced diabetic retinop...	Vascular Inflammation & Remodeling	Cardiovascular	Moderate
rs1805762	M6PR	Intronic M6PR variant associated with modest hypertension risk in East Asian ...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Emerging
rs193922385	MYBPC3 Arg177Cys	A rare missense variant in the C1 immunoglobulin domain of cardiac myosin-bin...	Cardiomyopathy & Structural Heart	Cardiovascular	Emerging
rs2229616	MC4R V103I	Missense variant in MC4R converting valine to isoleucine at position 103; the...	Appetite & Obesity	Cardiovascular	Strong
rs28647808	ADAMTS13 Pro618Ala	Missense variant in the spacer domain of ADAMTS13 that reduces VWF-cleaving p...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Moderate
rs3910053	NR3C2	Intronic NR3C2 variant associated with salt sensitivity of blood pressure and...	Blood Pressure & Hypertension	Cardiovascular	Emerging
rs4253238	KLKB1 KLKB1 intronic variant	Intronic KLKB1 variant whose T allele elevates plasma kallikrein enzymatic ac...	Coagulation & Clotting Factors	Cardiovascular	Moderate
rs4293393	UMOD	UMOD promoter variant affecting uromodulin expression, linked to CKD, salt-se...	Uric Acid & Kidney Function	Cardiovascular	Established
rs5177	LRP8 LRP8 3'UTR variant	3'UTR variant in LRP8 (ApoER2) that affects mRNA stability and forms part of ...	Atherogenic Lipoproteins	Cardiovascular	Moderate
rs6997709	KCNK9	Intergenic variant upstream of KCNK9 (TASK3 potassium channel) associated wit...	Arrhythmia & Heart Rhythm	Cardiovascular	Moderate
rs11708067	ADCY5 ADCY5 Glucose Signaling Variant	Intronic regulatory variant that reduces ADCY5 expression in pancreatic islet...	Blood Sugar & Diabetes	Cardiovascular	Strong
rs1341162	CYP2C8	Intronic CYP2C8 haplotype-tagging variant linked to altered drug metabolism c...	Pharmacogenomics	Cardiovascular	Moderate
rs137943601	LDLR LDLR E408* (Glu408Ter)	Nonsense mutation in the LDLR gene creating a premature stop codon at positio...	Cholesterol & Lipoproteins	Cardiovascular	Strong
rs174561	FADS1	Intronic variant in the FADS1 gene cluster that tags a haplotype block contro...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs1799752	ACE I/D (Alu insertion/deletion)	The causal ACE insertion/deletion structural variant — presence or absence of...	Fitness & Body	Cardiovascular	Strong
rs1799987	CCR5 CCR5 Promoter -2459A>G	Regulatory variant in the CCR5 promoter that reduces CCR5 expression by ~45%;...	Vascular Inflammation & Remodeling	Cardiovascular	Moderate
rs193922680	ACTC1 ACTC1 p.Glu101Lys	Pathogenic missense variant in cardiac alpha-actin that causes hypertrophic c...	Cardiomyopathy & Structural Heart	Cardiovascular	Established
rs20455	KIF6 Trp719Arg	Missense variant in kinesin family member 6; the Arg allele was associated wi...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Moderate
rs234709	CBS	Intronic CBS variant that tags the CBS locus in GWAS studies; associated with...	Vitamins & Nutrient Absorption	Cardiovascular	Moderate
rs28673647	ADAMTS13	Intronic ADAMTS13 variant modulating plasma ADAMTS13 levels; the G allele con...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Strong
rs3918226	NOS3	NOS3 promoter variant that reduces eNOS expression and increases hypertension...	Blood Pressure & Hypertension	Cardiovascular	Strong
rs4473653	SLC2A9	Intronic SLC2A9 variant in a third independent haplotype block within the GLU...	Uric Acid & Kidney Function	Cardiovascular	Moderate
rs55714927	ASGR1 ASGR1 K89K	Synonymous coding variant (Lys89Lys) in the asialoglycoprotein receptor 1 gen...	Atherogenic Lipoproteins	Cardiovascular	Strong
rs5985	F13A1 Val34Leu	Missense variant in Factor XIII A subunit; the Leu34 allele accelerates throm...	Coagulation & Clotting Factors	Cardiovascular	Strong
rs7940244	NADSYN1 Near DHCR7	Intronic NADSYN1 variant in the DHCR7/NADSYN1 vitamin D locus; T allele tags ...	Vitamin D Metabolism	Cardiovascular	Strong
rs11627387	MTHFD1	Intronic variant in the cytoplasmic trifunctional folate enzyme MTHFD1, assoc...	Methylation & Detox	Cardiovascular	Moderate
rs1341164	CYP2C8	Intronic CYP2C8 variant tagging a haplotype associated with altered taxane dr...	Pharmacogenomics	Cardiovascular	Emerging
rs1457043	CYP7A1	Intronic variant in CYP7A1 that tags a haplotype block influencing cholestero...	Cholesterol & Lipoproteins	Cardiovascular	Moderate
rs174568	FADS2 FADS2 C>T (delta-6 desaturase)	Intronic regulatory variant in FADS2 encoding delta-6 desaturase, the rate-li...	Triglycerides & Fatty Acids	Cardiovascular	Moderate
rs1800471	TGFB1 R25P (Arg25Pro)	Signal-peptide missense variant altering TGF-β1 secretion levels, associated ...	Vascular Inflammation & Remodeling	Cardiovascular	Moderate
rs199474703	MYL3 Arg94His (R94H)	Rare pathogenic missense variant in the myosin essential light chain causing ...	Cardiomyopathy & Structural Heart	Cardiovascular	Strong
rs2231137	ABCG2 ABCG2 V12M (Val12Met)	Missense variant in the ABCG2 transporter that impairs membrane localization ...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Moderate
rs33978901	VWF p.Arg924Gln	VWF missense variant (R924Q) that reduces von Willebrand factor and Factor VI...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Moderate
rs3889728	AGT AGT Intronic Variant	Intronic variant in the angiotensinogen (AGT) gene; the T allele has been inc...	Reproductive Hormones	Cardiovascular	Emerging
rs4236601	CAV1	Intergenic variant near caveolin genes affecting primary open-angle glaucoma ...	Skin & Eyes	Cardiovascular	Strong
rs4762	AGT T174M	Missense variant in angiotensinogen that increases AGT protein levels and rai...	Blood Pressure & Hypertension	Cardiovascular	Moderate
rs4820268	TMPRSS6 TMPRSS6 D512E	TMPRSS6 missense variant affecting matriptase-2 activity; A allele (Asp512Glu...	Iron & Mineral Transport	Cardiovascular	Strong
rs5925	LDLR LDLR Expression Co-variant	Synonymous variant in LDLR exon 13 that modulates mRNA splicing efficiency in...	Atherogenic Lipoproteins	Cardiovascular	Moderate
rs6048	F9 Factor IX Malmö	Common missense variant in the X-linked coagulation factor IX gene; the G all...	Coagulation & Clotting Factors	Cardiovascular	Moderate
rs7944926	DHCR7	Near-gene intronic variant in the DHCR7/NADSYN1 locus on chromosome 11 that t...	Vitamin D Metabolism	Cardiovascular	Strong
rs12598836	HMOX2	Intronic variant near heme oxygenase 2 (HMOX2) associated with migraine-with-...	Neurology & Cognition	Cardiovascular	Moderate
rs174572	FADS2	Intronic variant in FADS2 that reduces delta-6 desaturase activity, impairing...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs1800206	PPARA Leu162Val (L162V)	Missense variant in PPARA that reduces receptor transcriptional activity, ele...	Fitness & Body	Cardiovascular	Moderate
rs1800775	CETP -629C>A	CETP promoter variant that reduces CETP expression via Sp1/Sp3 repression, ra...	Cholesterol & Lipoproteins	Cardiovascular	Strong
rs1800872	IL10 -592 C>A	Promoter variant affecting IL-10 production — a key anti-inflammatory cytokin...	Vascular Inflammation & Remodeling	Cardiovascular	Strong
rs1935949	FOXO3	Second independent FOXO3 longevity signal tagging a distinct intronic haploty...	Longevity & Aging	Cardiovascular	Moderate
rs201457110	DCHS1	Rare pathogenic missense variant in DCHS1 (R2513H) causing mitral valve prola...	Cardiomyopathy & Structural Heart	Cardiovascular	Moderate
rs2241766	ADIPOQ T45G	Synonymous exon 2 variant in the adiponectin gene that affects mRNA stability...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Moderate
rs369504169	PROC p.Arg42His (c.125G>A)	Rare missense variant in the PROC gene encoding protein C; the A allele subst...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Strong
rs4580649	SLC2A9 SLC2A9 rs4580649	Intronic variant in the major renal urate transporter SLC2A9 (GLUT9); the A a...	Uric Acid & Kidney Function	Cardiovascular	Moderate
rs482843	CTH	Intronic CTH variant where GG homozygotes show significantly elevated preecla...	Blood Pressure & Hypertension	Cardiovascular	Moderate
rs5756504	TMPRSS6 TMPRSS6 variant	Intronic TMPRSS6 variant associated with hemoglobin levels and erythrocyte pa...	Iron & Mineral Transport	Cardiovascular	Moderate
rs6008845	PPARA PPARA intronic C/T	Regulatory PPARA variant where TT homozygotes with type 2 diabetes experience...	Atherogenic Lipoproteins	Cardiovascular	Strong
rs6050	FGA Thr312Ala	Missense variant in the fibrinogen alpha chain (FGA) that substitutes alanine...	Coagulation & Clotting Factors	Cardiovascular	Strong
rs174575	FADS2	Intronic variant in FADS2 that reduces delta-6 desaturase activity, impairing...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs1799941	SHBG	Promoter region variant affecting sex hormone-binding globulin levels, with t...	Hormones & Sleep	Cardiovascular	Strong
rs1800764	ACE Promoter T>C	Upstream promoter-region ACE variant on a separate LD block from the I/D poly...	Fitness & Body	Cardiovascular	Moderate
rs1800947	CRP +1059G>C	Synonymous exon 2 variant that influences baseline C-reactive protein express...	Vascular Inflammation & Remodeling	Cardiovascular	Strong
rs185392267	PCSK9 Arg96Cys	Gain-of-function missense variant in PCSK9 that increases intracellular LDL r...	Cholesterol & Lipoproteins	Cardiovascular	Strong
rs2118181	FBN1	Intronic FBN1 variant associated with elevated thoracic aortic dissection ris...	Cardiomyopathy & Structural Heart	Cardiovascular	Emerging
rs2298566	SNX19	Missense variant in sorting nexin 19 that alters endolysosomal positioning at...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Moderate
rs387906674	PROS1 R355C	Rare pathogenic missense variant in protein S causing hereditary type III pro...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Strong
rs475688	SLC22A12	Intronic regulatory variant in the URAT1 renal urate transporter gene; the T ...	Uric Acid & Kidney Function	Cardiovascular	Strong
rs4961	ADD1 Gly460Trp	Alpha-adducin missense variant that increases renal tubular sodium reabsorpti...	Blood Pressure & Hypertension	Cardiovascular	Strong
rs5756506	TMPRSS6	Intronic TMPRSS6 variant associated with hemoglobin and hematocrit levels, in...	Iron & Mineral Transport	Cardiovascular	Emerging
rs6063	FGG Gly191Arg	Rare missense variant in the fibrinogen gamma chain that disrupts fibrin poly...	Coagulation & Clotting Factors	Cardiovascular	Moderate
rs6511720	LDLR Intron 1	Common regulatory variant in the LDL receptor gene affecting LDLR expression,...	Atherogenic Lipoproteins	Cardiovascular	Strong
rs13266634	SLC30A8 Arg325Trp (C>T)	Zinc transporter 8 variant affecting zinc loading into insulin granules, infl...	Blood Sugar & Diabetes	Cardiovascular	Established
rs174616	FADS2 FADS2 Haplotype Block Variant	Intronic FADS2 variant tagging the FADS1/FADS2 haplotype block; A allele carr...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs1800624	AGER -374T/A	Promoter variant in the AGER gene that increases RAGE transcription approxima...	Hormones & Sleep	Cardiovascular	Moderate
rs1800795	IL6 -174G/C	Promoter variant controlling interleukin-6 expression — affects inflammation,...	Fitness & Body	Cardiovascular	Strong
rs1831281	CFH	Intronic CFH variant that tags the complement-risk haplotype; the C allele (c...	Vascular Inflammation & Remodeling	Cardiovascular	Moderate
rs2228314	SREBF2 SREBF2 G1784C	Missense variant in the master cholesterol transcription factor SREBP-2 that ...	Cholesterol & Lipoproteins	Cardiovascular	Moderate
rs2361502	MROH2A	Intronic variant adjacent to the UGT1A gene cluster; C allele tags elevated s...	Metabolic Enzymes & Rare Disorders	Cardiovascular	Moderate
rs267606908	MYH7 D906G	Pathogenic beta-myosin heavy chain missense variant causing a hypercontractil...	Cardiomyopathy & Structural Heart	Cardiovascular	Established
rs2943634	IRS1	Intergenic variant near IRS1 at 2q36.3 associated with ischemic stroke risk, ...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Moderate
rs387906675	PROS1 Y234C	Pathogenic missense variant in the vitamin K-dependent anticoagulant gene PRO...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Established
rs5051	AGT G-6A	Promoter variant that increases angiotensinogen gene transcription, raising p...	Blood Pressure & Hypertension	Cardiovascular	Strong
rs505802	SLC22A12	Upstream regulatory variant in the URAT1 urate reabsorption transporter gene;...	Uric Acid & Kidney Function	Cardiovascular	Established
rs662799	APOA5 -1131T>C	Promoter variant that reduces APOA5 expression, impairing lipoprotein lipase ...	Atherogenic Lipoproteins	Cardiovascular	Strong
rs7385804	TFR2	Intronic variant in transferrin receptor 2 that tags altered TFR2 expression ...	Iron & Mineral Transport	Cardiovascular	Strong
rs780094	GCKR	Intronic GCKR variant in strong LD with the coding P446L substitution (rs1260...	Liver Fat	Cardiovascular	Strong
rs16928751	ADIPOR2 ADIPOR2 CVD co-association variant	Synonymous coding variant in ADIPOR2 (Q265Q) that was co-associated with card...	Fat Storage & Energy	Cardiovascular	Emerging
rs17482753	LPL LPL G>T (Intergenic Variant)	Intergenic variant near the lipoprotein lipase gene on 8p21.3 with an indepen...	Triglycerides & Fatty Acids	Cardiovascular	Moderate
rs1800625	AGER AGER -429T>C	Promoter variant at position -429 in the AGER gene that increases RAGE transc...	Hormones & Sleep	Cardiovascular	Moderate
rs1801252	ADRB1 Ser49Gly	Beta-1 adrenergic receptor variant at position 49 affecting receptor downregu...	Fitness & Body	Cardiovascular	Strong
rs2069837	IL6	Intronic IL6 enhancer variant that regulates the anti-inflammatory gene GPNMB...	Longevity & Aging	Cardiovascular	Moderate
rs2234714	ABCG1 ABCG1 promoter variant	Intronic ABCG1 variant near the promoter region; homozygous carriers of the m...	Cholesterol & Lipoproteins	Cardiovascular	Emerging
rs30021	SNX24 VEGFA Vascular Growth Co-variant	Intronic variant in SNX24 (sorting nexin 24) with roles in vascular endotheli...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Emerging
rs36211723	MYBPC3 Asp770Asn (c.2308G>A)	Rare pathogenic missense variant at the last nucleotide of MYBPC3 exon 23, ca...	Cardiomyopathy & Structural Heart	Cardiovascular	Strong
rs41276738	VWF p.Arg854Gln (R854Q) type 2N	Missense variant in the VWF D' domain that abolishes high-affinity Factor VII...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Established
rs5068	NPPA	3'UTR variant that disrupts miR-425 binding, increasing atrial natriuretic pe...	Blood Pressure & Hypertension	Cardiovascular	Strong
rs6742078	UGT1A10	Intronic variant in the UGT1A gene cluster (chromosome 2q37) strongly associa...	Uric Acid & Kidney Function	Cardiovascular	Strong
rs688	LDLR Asn591Asn (c.1773C>T)	Synonymous LDLR variant that disrupts exon 12 splicing, reduces LDL receptor ...	Atherogenic Lipoproteins	Cardiovascular	Strong
rs855791	TMPRSS6 Ala736Val	Master regulator of iron absorption via hepcidin control — the strongest comm...	Iron & Mineral Transport	Cardiovascular	Established
rs1532268	MTRR MTRR S175L	Missense variant in methionine synthase reductase that raises homocysteine wh...	Methylation & Detox	Cardiovascular	Moderate
rs1801253	ADRB1 Arg389Gly	Beta-1 adrenergic receptor variant where Arg389 produces higher basal activit...	Fitness & Body	Cardiovascular	Strong
rs1927911	TLR4	Intronic TLR4 variant in the innate immune receptor gene; the A allele associ...	Vascular Inflammation & Remodeling	Cardiovascular	Moderate
rs2153960	FOXO3	Intronic FOXO3 tag SNP whose A allele associates with higher circulating IGF-...	Longevity & Aging	Cardiovascular	Moderate
rs2249891	ABCA1	Intronic ABCA1 variant associated with lower HDL-cholesterol susceptibility a...	Cholesterol & Lipoproteins	Cardiovascular	Moderate
rs3184504	SH2B3 R262W	Pleiotropic missense variant reducing SH2B3 inhibitory function, increasing b...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Strong
rs371898076	MYH7 Arg663His (R663H)	Pathogenic missense variant in the myosin motor domain causing hypertrophic c...	Cardiomyopathy & Structural Heart	Cardiovascular	Strong
rs5186	AGTR1 A1166C	3' UTR variant in angiotensin II type 1 receptor affecting blood pressure reg...	Blood Pressure & Hypertension	Cardiovascular	Moderate
rs61748497	VWF C1060R	Pathogenic missense in the VWF D3 domain that abolishes factor VIII binding; ...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Established
rs693	APOB XbaI (C/T)	Silent variant affecting LDL particle number and lipid metabolism; A allele c...	Atherogenic Lipoproteins	Cardiovascular	Strong
rs17300539	ADIPOQ -11391G>A	Promoter variant affecting adiponectin secretion and metabolic syndrome risk	Fat Storage & Energy	Cardiovascular	Strong
rs200330818	GDF2	Rare missense variant in BMP9/GDF2 that impairs processing of the mature BMP9...	Vascular Inflammation & Remodeling	Cardiovascular	Moderate
rs2575876	ABCA1	Intronic ABCA1 variant associated with HDL-C levels under a recessive model; ...	Cholesterol & Lipoproteins	Cardiovascular	Moderate
rs340875	PROX1	Intronic variant in PROX1, the master transcription factor for lymphatic endo...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Moderate
rs375882485	MYBPC3 Arg502Trp	Pathogenic missense variant in the C3 domain of cardiac myosin-binding protei...	Cardiomyopathy & Structural Heart	Cardiovascular	Established
rs5335	EDNRA	3' UTR variant in the endothelin receptor type A gene associated with ambulat...	Blood Pressure & Hypertension	Cardiovascular	Moderate
rs61750579	VWF V1607D	Pathogenic missense variant in von Willebrand factor A2 domain adjacent to th...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Strong
rs6849729	SLC2A9	Intronic SLC2A9 variant 70 bp from rs6815001 tagging the same renal urate-cle...	Uric Acid & Kidney Function	Cardiovascular	Emerging
rs708272	CETP TaqIB	Influences HDL cholesterol levels and particle size through effects on choles...	Atherogenic Lipoproteins	Cardiovascular	Strong
rs1797912	PPARG PPARG intronic haplotype variant	Intronic PPARG variant in the same haplotype block as rs1175543; the C allele...	Fat Storage & Energy	Cardiovascular	Emerging
rs1815739	ACTN3 R577X	Determines presence of alpha-actinin-3 protein in fast-twitch muscle fibers, ...	Fitness & Body	Cardiovascular	Strong
rs2000813	LIPG	Missense variant in endothelial lipase that tags a regulatory haplotype assoc...	Triglycerides & Fatty Acids	Cardiovascular	Moderate
rs2237583	PON1 PON1 intron variant	Intronic PON1 variant that modulates arylesterase activity of the HDL-bound a...	Vascular Inflammation & Remodeling	Cardiovascular	Moderate
rs2253310	FOXO3	Intronic FOXO3 longevity variant; C allele (minor in East Asians) associated ...	Longevity & Aging	Cardiovascular	Moderate
rs2853579	ABCA1	Synonymous coding variant in ABCA1 that tags a regulatory element influencing...	Cholesterol & Lipoproteins	Cardiovascular	Strong
rs28929474	SERPINA1 Z allele (E342K)	Most common alpha-1 antitrypsin deficiency variant causing protein misfolding...	Metabolic Enzymes & Rare Disorders	Cardiovascular	Established
rs35257264	ST3GAL4	Intronic variant near ST3GAL4 that modulates VWF and Factor VIII sialylation,...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Strong
rs3900940	MYH15 T1105A	Missense variant in MYH15 encoding a Thr1105Ala substitution in myosin heavy ...	Cardiomyopathy & Structural Heart	Cardiovascular	Emerging
rs549476	NEDD4L	Intronic NEDD4L variant influencing ubiquitin ligase isoform expression and s...	Blood Pressure & Hypertension	Cardiovascular	Moderate
rs61750581	VWF S1613P	A2 domain missense variant in von Willebrand factor associated with type 2A v...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Moderate
rs6852441	SLC2A9	Intronic SLC2A9 variant tagging a urate-transport regulatory haplotype; the p...	Uric Acid & Kidney Function	Cardiovascular	Moderate
rs730882094	LDLR Asn316Ser (N316S)	Rare likely-pathogenic missense variant in the LDLR EGF-like repeat domain ca...	Atherogenic Lipoproteins	Cardiovascular	Strong
rs1537373	CDKN2B-AS1 ANRIL T2D/Cardiovascular Variant	Regulatory intronic variant within ANRIL (CDKN2B-AS1) at the 9p21.3 locus; th...	Blood Sugar & Diabetes	Cardiovascular	Strong
rs2010963	VEGFA G-634C (+405G>C)	Promoter variant affecting VEGF-A expression and angiogenesis, influencing mu...	Fitness & Body	Cardiovascular	Strong
rs2072114	FADS2 FADS2 Intron 1 Variant	Intronic FADS2 haplotype tag SNP — the G allele is linked to altered delta-6 ...	Triglycerides & Fatty Acids	Cardiovascular	Moderate
rs2881766	ESR1 ESR1 intron variant	Intronic variant in estrogen receptor alpha that alters ESR1 expression and h...	Vascular Inflammation & Remodeling	Cardiovascular	Moderate
rs28942083	LDLR Cys667Tyr	Pathogenic LDLR missense variant abolishing LDL receptor surface expression, ...	Cholesterol & Lipoproteins	Cardiovascular	Established
rs3825942	LOXL1 G153D (Gly153Asp)	Missense variant in the elastin-crosslinking enzyme LOXL1; the common G allel...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Strong
rs396514912	OBSCN Protein-truncating variant	Protein-truncating frameshift deletion in obscurin; homozygous or compound he...	Cardiomyopathy & Structural Heart	Cardiovascular	Moderate
rs61750584	VWF I1628T	Missense variant in the VWF A2 domain that destabilizes the protein and incre...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Established
rs6841581	EDNRA	Regulatory variant upstream of the endothelin receptor type A gene that reduc...	Blood Pressure & Hypertension	Cardiovascular	Strong
rs730882105	LDLR p.Val524Met	Rare LDLR missense variant (c.1570G>A, p.Val524Met) associated with familial ...	Atherogenic Lipoproteins	Cardiovascular	Moderate
rs1934953	CYP2C8	Intronic CYP2C8 variant linked to epoxygenase pathway activity, hypertension ...	Pharmacogenomics	Cardiovascular	Emerging
rs2016520	PPARD +294T>C	Regulatory variant that increases PPARD transcription, enhancing fat oxidatio...	Fitness & Body	Cardiovascular	Moderate
rs2073658	USF1 USF1 FCHL Variant	Intronic USF1 variant; the T allele disrupts insulin-responsive USF1 regulati...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs2295080	MTOR	Promoter variant that reduces mTOR expression; the G allele lowers mTOR trans...	Longevity & Aging	Cardiovascular	Moderate
rs28934568	TGFBR2	Pathogenic missense variant in TGFBR2 (Leu308Pro) causing Loeys-Dietz syndrom...	Vascular Inflammation & Remodeling	Cardiovascular	Established
rs28942084	LDLR LDLR Pro685Leu	Pathogenic LDLR missense variant in the EGF precursor domain causing familial...	Cholesterol & Lipoproteins	Cardiovascular	Established
rs3850641	TNFSF4 TNFSF4 (OX40L) Intron 1 Variant	Intronic variant in TNFSF4 (OX40 ligand) linked to a promoter haplotype that ...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Moderate
rs397514752	MYBPC3 Gly490Val	Ultra-rare autosomal recessive MYBPC3 missense variant; homozygotes develop s...	Cardiomyopathy & Structural Heart	Cardiovascular	Emerging
rs61750591	VWF c.4944del	A frameshift deletion in VWF that truncates von Willebrand factor from positi...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Strong
rs7305099	WNK1 WNK1 intronic variant	Intronic WNK1 variant where the G allele is associated with increased essenti...	Blood Pressure & Hypertension	Cardiovascular	Moderate
rs73885316	APOL1 p.N264K	Protective missense modifier in APOL1 that abolishes G2 risk allele cytotoxic...	Uric Acid & Kidney Function	Cardiovascular	Strong
rs763625913	LDLR Q770* (c.2308C>T)	Rare pathogenic nonsense variant in the LDL receptor gene that abolishes rece...	Atherogenic Lipoproteins	Cardiovascular	Established
rs28936687	ACVRL1	Pathogenic missense variant in ALK1 kinase domain causing hereditary hemorrha...	Vascular Inflammation & Remodeling	Cardiovascular	Established
rs28942085	LDLR LDLR Y828C (J.D. mutation)	Pathogenic LDLR missense variant (p.Tyr828Cys) that traps LDL receptors outsi...	Cholesterol & Lipoproteins	Cardiovascular	Established
rs3918242	MMP9 MMP9 C-1562T	Promoter variant that disrupts an SP1 transcription factor binding site, incr...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Strong
rs397515953	MYBPC3	Rare pathogenic/likely pathogenic missense variant in the C5 immunoglobulin-l...	Cardiomyopathy & Structural Heart	Cardiovascular	Strong
rs41423247	NR3C1 BclI	Intronic glucocorticoid receptor variant affecting cortisol sensitivity and s...	Mood & Behavior	Cardiovascular	Strong
rs4845625	IL6R	Intronic IL6R variant associated with coronary artery disease risk, elevated ...	TNF, NF-kB & Inflammatory Cytokines	Cardiovascular	Moderate
rs61750595	VWF R1659X	Nonsense mutation creating a premature stop codon in von Willebrand factor; h...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Established
rs7571842	SLC4A5	Intronic variant in the renal sodium-bicarbonate cotransporter gene SLC4A5 as...	Blood Pressure & Hypertension	Cardiovascular	Strong
rs182052	ADIPOQ ADIPOQ promoter -10066A>G	Intronic/promoter-region ADIPOQ variant where the A allele reduces circulatin...	Fat Storage & Energy	Cardiovascular	Strong
rs1934967	CYP2C9	Intronic CYP2C9 haplotype tag associated with altered warfarin sensitivity an...	Pharmacogenomics	Cardiovascular	Moderate
rs2197089	LPL LPL Regulatory Variant	Downstream regulatory variant affecting LPL expression and triglyceride clear...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs3846662	HMGCR HMGCR Intron 13 Splice Variant	Intronic HMGCR variant that modulates alternative splicing of exon 13, produc...	Cholesterol & Lipoproteins	Cardiovascular	Moderate
rs397516127	MYH7 Arg663Cys (R663C)	Pathogenic missense variant in the beta-myosin heavy chain motor domain causi...	Cardiomyopathy & Structural Heart	Cardiovascular	Strong
rs4537545	IL6R IL6R intron variant	Intronic IL6R variant in linkage disequilibrium with the functional Asp358Ala...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Strong
rs61750612	VWF R1853X	Nonsense mutation creating a premature stop codon at position 1853 of von Wil...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Established
rs8094327	NEDD4L	Intronic NEDD4L variant tagging the haplotype block that modulates ENaC sodiu...	Blood Pressure & Hypertension	Cardiovascular	Moderate
rs1862513	RETN -420C>G	Promoter variant that increases resistin expression via Sp1/Sp3 transcription...	Fat Storage & Energy	Cardiovascular	Moderate
rs1934980	CYP2C8	Intronic CYP2C8 variant linked to altered enzyme expression and associated wi...	Pharmacogenomics	Cardiovascular	Moderate
rs2070600	AGER Gly82Ser	Missense variant in the AGER pattern-recognition receptor that reduces solubl...	Hormones & Sleep	Cardiovascular	Strong
rs2236212	ELOVL2	Intronic variant in ELOVL2 that reduces elongase-2 enzyme activity, impairing...	Triglycerides & Fatty Acids	Cardiovascular	Moderate
rs2542052	APOC3	Promoter variant that reduces APOC3 expression, associated with lower triglyc...	Longevity & Aging	Cardiovascular	Strong
rs28936701	CYP1B1 R469W	Pathogenic CYP1B1 missense variant (Arg469Trp) that severely reduces enzyme a...	Vascular Inflammation & Remodeling	Cardiovascular	Established
rs3846663	HMGCR HMGCR Exon 13 Haplotype Tag	Intronic HMGCR variant that tags a haplotype influencing exon 13 alternative ...	Cholesterol & Lipoproteins	Cardiovascular	Strong
rs397516394	TPM1 Met281Val	Ultra-rare TPM1 missense variant of uncertain significance found in hypertrop...	Cardiomyopathy & Structural Heart	Cardiovascular	Emerging
rs4252185	PLG	Intronic PLG variant (intron 1) whose C allele is enriched in Europeans and a...	Innate Immunity & Infection Defense	Cardiovascular	Emerging
rs4888378	CFDP1	Intronic CFDP1 locus variant that regulates BCAR1 expression in vascular tiss...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Strong
rs61750630	VWF C2362F	Pathogenic missense variant in von Willebrand factor causing intracellular re...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Strong
rs7679916	SLC2A9	Regulatory upstream variant in the SLC2A9 promoter region; the T allele is as...	Uric Acid & Kidney Function	Cardiovascular	Emerging
rs841	GCH1	Intronic/3'UTR GCH1 variant tagging reduced tetrahydrobiopterin (BH4) synthes...	Blood Pressure & Hypertension	Cardiovascular	Moderate
rs1799983	NOS3 Glu298Asp	Nitric oxide production - reduced activity increases cardiovascular risk and ...	Methylation & Detox	Cardiovascular	Established
rs2241767	ADIPOQ +349A>G	Intronic variant in the adiponectin gene associated with lower circulating ad...	Fat Storage & Energy	Cardiovascular	Moderate
rs2278236	ANGPTL4 ANGPTL4 Intronic Variant	Intronic ANGPTL4 variant tagging reduced LPL inhibition; the A allele is asso...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs243865	MMP2 C-1306T	Promoter polymorphism that disrupts an Sp1-binding site and reduces MMP-2 enz...	Fitness & Body	Cardiovascular	Moderate
rs3091244	CRP -286C>T>A	Triallelic promoter variant that strongly influences basal CRP transcription;...	Vascular Inflammation & Remodeling	Cardiovascular	Strong
rs377022708	ACAD9 Arg532Trp (R532W)	Pathogenic missense variant in the ACAD9 complex I assembly factor causing se...	Metabolic Enzymes & Rare Disorders	Cardiovascular	Strong
rs397516406	MYL2 G162E (Gly162Glu)	Pathogenic missense variant in the ventricular regulatory myosin light chain ...	Cardiomyopathy & Structural Heart	Cardiovascular	Strong
rs4149268	ABCA1	Intronic ABCA1 variant — the C allele tags a liver enhancer that boosts ABCA1...	Cholesterol & Lipoproteins	Cardiovascular	Moderate
rs4977574	CDKN2B-AS1 9p21.3	Independent 9p21.3 CAD risk signal in ANRIL; G allele elevates coronary arter...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Established
rs61751290	VWF c.7437+1G>T	Splice donor variant in VWF intron 43 that destroys the canonical GT dinucleo...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Emerging
rs77924615	UMOD PDILT-UMOD regulatory variant	Intronic regulatory variant physically located in PDILT that controls uromodu...	Uric Acid & Kidney Function	Cardiovascular	Strong
rs1800566	NQO1 Pro187Ser (C609T)	Phase II detoxification enzyme that reduces quinones and recycles CoQ10 to it...	Methylation & Detox	Cardiovascular	Strong
rs2234693	ESR1 PvuII	Estrogen receptor alpha intron variant affecting receptor expression and estr...	Hormones & Sleep	Cardiovascular	Moderate
rs2524299	FADS2	Intronic regulatory variant in FADS2 (Block 2 haplotype) that reduces basal F...	Triglycerides & Fatty Acids	Cardiovascular	Moderate
rs2736100	TERT	Common intron 2 variant in the telomerase gene that influences telomere lengt...	Longevity & Aging	Cardiovascular	Strong
rs28937900	FKRP L276I	The most common pathogenic mutation in FKRP causing limb-girdle muscular dyst...	Fitness & Body	Cardiovascular	Established
rs3093059	CRP -757T>C	Promoter variant that elevates baseline C-reactive protein levels, increasing...	Vascular Inflammation & Remodeling	Cardiovascular	Strong
rs397516407	MYL2 Glu163Ala	Pathogenic missense variant in the regulatory myosin light chain gene; hetero...	Cardiomyopathy & Structural Heart	Cardiovascular	Strong
rs4149274	ABCA1	Intronic ABCA1 variant influencing HDL-cholesterol levels through altered ABC...	Cholesterol & Lipoproteins	Cardiovascular	Moderate
rs501120	CXCL12	Regulatory variant ~80 kb downstream of CXCL12 (SDF-1) associated with elevat...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Strong
rs61753993	VWF D141G	Missense variant in von Willebrand factor (p.Asp141Gly) associated with type ...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Moderate
rs2297508	SREBF1 SREBF1 G952G	SREBF1 3' UTR variant that subtly impairs SREBP-1c function, increasing risk ...	Fat Storage & Energy	Cardiovascular	Moderate
rs264	LPL LPL Intron 6 Variant	Intronic LPL variant associated with altered triglyceride clearance and HDL l...	Triglycerides & Fatty Acids	Cardiovascular	Moderate
rs2764264	FOXO3	Intronic FOXO3 variant that disrupts an NKX3 transcription factor binding sit...	Longevity & Aging	Cardiovascular	Strong
rs397516919	DSP DSP Trp550Ter	Nonsense variant in desmoplakin that truncates the protein at codon 550, caus...	Cardiomyopathy & Structural Heart	Cardiovascular	Strong
rs4073	IL8 -251A>T	Promoter variant affecting interleukin-8 transcription and inflammatory burden	Vascular Inflammation & Remodeling	Cardiovascular	Strong
rs429358	APOE E4 determinant	Lipid metabolism and Alzheimer's risk - E4 carriers respond worse to high sat...	Cholesterol & Lipoproteins	Cardiovascular	Established
rs4654748	NBPF3	Tag SNP in the NBPF3/ALPL locus on chromosome 1 — the strongest common geneti...	Vitamins & Nutrient Absorption	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...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Established
rs61754002	VWF Y357X	Nonsense mutation creating a premature stop codon in von Willebrand factor; n...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Established
rs17857135	RNF213 Met270Thr	Missense variant (Met270Thr) in RNF213, the major moyamoya disease susceptibi...	Neurology & Cognition	Cardiovascular	Strong
rs2304795	PLIN1	Synonymous exon 8 variant in perilipin 1 that tags a haplotype associated wit...	Fat Storage & Energy	Cardiovascular	Moderate
rs2727270	FADS2	Intronic regulatory variant in FADS2 that tags a 10-SNP haplotype reducing ba...	Triglycerides & Fatty Acids	Cardiovascular	Moderate
rs2779249	NOS2 Promoter -1026C/A	Functional promoter variant that increases iNOS transcriptional activity up t...	Longevity & Aging	Cardiovascular	Moderate
rs3025058	MMP3 5A/6A	Promoter polymorphism affecting MMP3 enzyme expression levels, influencing ca...	Fitness & Body	Cardiovascular	Strong
rs397516923	DSP DSP Q72Ter	Rare truncating variant in desmoplakin that creates a premature stop codon at...	Cardiomyopathy & Structural Heart	Cardiovascular	Moderate
rs4729189	PON2	Intronic PON2 variant associated with variation in serum paraoxonase activity...	Vascular Inflammation & Remodeling	Cardiovascular	Emerging
rs4783961	CETP	CETP promoter variant that raises HDL cholesterol by reducing cholesteryl est...	Cholesterol & Lipoproteins	Cardiovascular	Moderate
rs4986790	TLR4 Asp299Gly	Missense variant in Toll-like receptor 4 reducing bacterial endotoxin recogni...	Innate Immunity & Infection Defense	Cardiovascular	Strong
rs56062135	SMAD3 SMAD3 intronic variant	Intronic SMAD3 variant tagging the CAD-protective haplotype where the T allel...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Strong
rs5749131	TCN2	Upstream regulatory variant near TCN2 associated with reduced holotranscobala...	Vitamins & Nutrient Absorption	Cardiovascular	Moderate
rs61754010	VWF N528S	Pathogenic missense variant in the VWF propeptide D2 domain that introduces a...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Strong
rs1801133	MTHFR C677T	Key enzyme for converting folate to its active methylfolate form	Methylation & Detox	Cardiovascular	Established
rs2108622	CYP4F2 V433M (*3)	Reduces vitamin K metabolism, requiring higher warfarin doses to achieve anti...	Pharmacogenomics	Cardiovascular	Established
rs2605100	LYPLAL1	Intronic variant in the LYPLAL1 locus associated with waist-hip ratio and fat...	Fat Storage & Energy	Cardiovascular	Strong
rs2727271	FADS2	Intronic variant in FADS2 (delta-6 desaturase) associated with reduced enzyme...	Triglycerides & Fatty Acids	Cardiovascular	Moderate
rs2802292	FOXO3	Longevity-associated intronic enhancer variant with 1.9-fold increased probab...	Longevity & Aging	Cardiovascular	Established
rs397516929	DSP Ser987Pro	Rare missense variant in desmoplakin that likely disrupts desmosomal integrit...	Cardiomyopathy & Structural Heart	Cardiovascular	Emerging
rs4986791	TLR4 Thr399Ile	Missense variant in Toll-like receptor 4 that co-segregates with Asp299Gly on...	Innate Immunity & Infection Defense	Cardiovascular	Strong
rs57035593	TC2N	Intronic variant in TC2N (tandem C2 domains, nuclear) robustly associated wit...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Strong
rs61754011	VWF Gly550Arg	Pathogenic missense variant in the VWF propeptide D2 domain that prevents hig...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Established
rs662	PON1 Q192R	Affects paraoxonase-1 enzyme activity for detoxifying organophosphates and pr...	Vascular Inflammation & Remodeling	Cardiovascular	Moderate
rs1801181	CBS A360A	A synonymous variant in CBS affecting homocysteine metabolism and associated ...	Methylation & Detox	Cardiovascular	Moderate
rs2231142	ABCG2 Q141K	Reduces ABCG2 transporter function affecting rosuvastatin levels and uric aci...	Pharmacogenomics	Cardiovascular	Established
rs2287161	CRY1 3' Downstream G>C	Cryptochrome 1 circadian gene variant influencing glucose metabolism, sleep t...	Hormones & Sleep	Cardiovascular	Strong
rs2651899	PRDM16	Intronic variant in the master regulator of brown/beige fat differentiation, ...	Fat Storage & Energy	Cardiovascular	Moderate
rs2811712	CDKN2BAS	Regulatory variant in the ANRIL long non-coding RNA at the 9p21.3 locus that ...	Longevity & Aging	Cardiovascular	Moderate
rs2854116	APOC3 T-455C	APOC3 promoter variant that disrupts insulin suppression of ApoC-III, raising...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs3736228	LRP5 A1330V	Wnt signaling co-receptor variant affecting bone mineral density and fracture...	Fitness & Body	Cardiovascular	Strong
rs397516933	DSP DSP Gln1277Ter	Nonsense variant in desmoplakin that truncates the protein at codon 1277, cau...	Cardiomyopathy & Structural Heart	Cardiovascular	Strong
rs520354	APOB APOB IVS6+360	Intronic APOB variant where the A allele (plus strand) is associated with app...	Cholesterol & Lipoproteins	Cardiovascular	Moderate
rs619203	ROS1 Ser2229Cys	Missense variant in the ROS1 receptor tyrosine kinase associated with atherot...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Emerging
rs6905288	VEGFA	Adipose tissue vascularization variant near VEGFA influencing fat distributio...	Vascular Inflammation & Remodeling	Cardiovascular	Moderate
rs867186	PROCR S219G	Missense variant in the endothelial protein C receptor gene that increases EP...	Von Willebrand & Anticoagulant Proteins	Cardiovascular	Strong
rs2242480	CYP3A4 *1G	Intronic variant in CYP3A4 intron 10 that upregulates a suppressive lncRNA, r...	Pharmacogenomics	Cardiovascular	Strong
rs2291725	GIP Ser103Gly	Missense variant in the GIP incretin hormone that changes its bioactivity and...	Hormones & Sleep	Cardiovascular	Moderate
rs266729	ADIPOQ -11391G>C	Promoter variant reducing adiponectin transcription, increasing T2D, NAFLD, a...	Fat Storage & Energy	Cardiovascular	Strong
rs2854117	APOC3 APOC3 C-482T	Promoter variant in APOC3 disrupting insulin-responsive regulation of apolipo...	Triglycerides & Fatty Acids	Cardiovascular	Moderate
rs28933979	TTR Val30Met (V30M)	Most common pathogenic TTR variant causing hereditary transthyretin amyloidos...	Longevity & Aging	Cardiovascular	Established
rs3801387	WNT16	Intronic variant affecting cortical bone thickness, bone mineral density, and...	Fitness & Body	Cardiovascular	Established
rs397516943	DSP	Pathogenic DSP nonsense variant creating a premature stop codon at position 1...	Cardiomyopathy & Structural Heart	Cardiovascular	Established
rs5888	SCARB1	Synonymous variant that reduces SR-BI receptor expression and impairs HDL cho...	Cholesterol & Lipoproteins	Cardiovascular	Moderate
rs602662	FUT2 Gly258Ser	Missense variant in the FUT2 fucosyltransferase enzyme that alters haptocorri...	Vitamins & Nutrient Absorption	Cardiovascular	Strong
rs6797312	SERPINI1	Intronic variant in the neuroserpin gene; the A allele has been associated wi...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Emerging
rs7030781	VEGFA VEGFA Regulatory Co-variant	Chromosome 9 regulatory co-variant near a lncRNA locus that co-segregates wit...	Vascular Inflammation & Remodeling	Cardiovascular	Emerging
rs932764	PLCE1	Intronic variant in PLCE1 (phospholipase C epsilon 1) associated with elevate...	Endometriosis & Uterine Health	Cardiovascular	Strong
rs2246709	CYP3A4	Intronic CYP3A4 variant associated with altered drug clearance, affecting met...	Pharmacogenomics	Cardiovascular	Moderate
rs2918418	NR3C1	Intronic NR3C1 variant with CC genotype enriched in Polish centenarians; GG g...	Longevity & Aging	Cardiovascular	Emerging
rs2919872	FABP1 FABP1 Promoter Variant	Promoter variant 2 kb upstream of FABP1 (liver fatty acid binding protein) th...	Triglycerides & Fatty Acids	Cardiovascular	Moderate
rs397516946	DSP DSP Q1810X	Pathogenic stop-gain in desmoplakin's tail domain; one copy truncates the pro...	Cardiomyopathy & Structural Heart	Cardiovascular	Strong
rs5743810	TLR6 Ser249Pro	Coding variant replacing serine with proline at TLR6 position 249, altering T...	Innate Immunity & Infection Defense	Cardiovascular	Moderate
rs606231236	APOB	Pathogenic APOB splice acceptor variant causing familial hypobetalipoproteine...	Cholesterol & Lipoproteins	Cardiovascular	Strong
rs6922269	MTHFD1L	Intronic variant in the mitochondrial folate enzyme MTHFD1L, associated with ...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Strong
rs705379	PON1 PON1 promoter -108C>T	Promoter polymorphism that controls PON1 gene expression — the T allele (A on...	Vascular Inflammation & Remodeling	Cardiovascular	Strong
rs7566605	INSIG2	Upstream regulatory variant near INSIG2 that influences lipogenesis control a...	Appetite & Obesity	Cardiovascular	Moderate
rs1802059	MTRR	Synonymous MTRR variant (c.1911G>A) associated with congenital heart disease ...	Methylation & Detox	Cardiovascular	Emerging
rs2280275	CYP2J2	Intronic variant in CYP2J2 that tags reduced epoxyeicosatrienoic acid (EET) p...	Pharmacogenomics	Cardiovascular	Moderate
rs2954021	TRIB1	Near-gene variant influencing hepatic lipid metabolism; G allele raises trigl...	Triglycerides & Fatty Acids	Cardiovascular	Established
rs2963154	NR3C1	Intronic NR3C1 variant with TT genotype enriched in Polish centenarians; C al...	Longevity & Aging	Cardiovascular	Emerging
rs41309766	NOTCH1 c.4512del (p.Cys1505fs)	Pathogenic frameshift deletion in NOTCH1 causing haploinsufficiency; carriers...	Cardiomyopathy & Structural Heart	Cardiovascular	Strong
rs4253778	PPARA intron 7 G/C	Regulates fatty acid oxidation and muscle fiber composition, influencing endu...	Fitness & Body	Cardiovascular	Moderate
rs60910145	APOL1 G1 I384M	Second component of the APOL1 G1 kidney disease risk haplotype — a missense v...	Cholesterol & Lipoproteins	Cardiovascular	Established
rs700651	BOLL	Intronic variant near the BOLL gene associated with increased intracranial an...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Moderate
rs854555	PON1 PON1 3'UTR variant	Intronic/downstream PON1 haplotype-tagging variant associated with PON1 activ...	Vascular Inflammation & Remodeling	Cardiovascular	Emerging
rs3135506	APOA5 S19W	Triglyceride metabolism - affects fasting triglyceride levels and cardiovascu...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs4341	ACE I/D tag SNP	Tag SNP for the ACE insertion/deletion polymorphism — the C allele tracks the...	Fitness & Body	Cardiovascular	Strong
rs4855559	MYH15	Intronic variant in the myosin heavy chain 15 gene associated with impaired c...	Cardiomyopathy & Structural Heart	Cardiovascular	Emerging
rs673548	APOB	Intronic APOB variant associated with modest differences in apolipoprotein B ...	Cholesterol & Lipoproteins	Cardiovascular	Moderate
rs7025486	DAB2IP DAB2IP intron variant	Intronic variant in DAB2IP associated with increased risk of abdominal aortic...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Strong
rs854571	PON1 PON1 -108C>T promoter variant	Promoter variant that controls PON1 transcription; the T allele reduces PON1 ...	Vascular Inflammation & Remodeling	Cardiovascular	Strong
rs1808593	NOS3	Intronic NOS3 variant associated with ankle-brachial index and peripheral art...	Methylation & Detox	Cardiovascular	Moderate
rs2237886	KCNQ1 KCNQ1 Potassium Channel Diabetes Variant	Intronic variant in KCNQ1's imprinted region, tagging the same LD block as es...	Blood Sugar & Diabetes	Cardiovascular	Moderate
rs3211867	CD36	Intronic CD36 variant that reduces CD36 expression, impairing postprandial fa...	Triglycerides & Fatty Acids	Cardiovascular	Moderate
rs587782951	JPH2 Thr161Lys	Pathogenic missense variant in junctophilin-2 that disrupts sarcoplasmic reti...	Cardiomyopathy & Structural Heart	Cardiovascular	Strong
rs71785313	APOL1 G2 (del388N389Y)	Six-base-pair in-frame deletion removing two amino acids from apolipoprotein ...	Cholesterol & Lipoproteins	Cardiovascular	Established
rs74315329	MYOC Gln368Ter (Q368X)	Pathogenic nonsense variant in myocilin causing autosomal dominant juvenile a...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Established
rs854572	PON1 PON1 promoter -909G>C	Promoter polymorphism that modulates PON1 gene expression level — the G allel...	Vascular Inflammation & Remodeling	Cardiovascular	Moderate
rs1979277	SHMT1 C1420T	Alters one-carbon metabolism and folate distribution; influences cancer risk,...	Methylation & Detox	Cardiovascular	Moderate
rs3211883	CD36	Intronic CD36 variant associated with altered body adiposity and platelet CD3...	Triglycerides & Fatty Acids	Cardiovascular	Moderate
rs3734254	PPARD T+294C	PPARD 3'UTR variant that reduces fatty acid oxidation capacity and blunts the...	Fat Storage & Energy	Cardiovascular	Moderate
rs3803304	AKT1	Intronic AKT1 variant near a conserved exon-intron boundary; the G allele is ...	Longevity & Aging	Cardiovascular	Moderate
rs71180793	OBSCN OBSCN c.23838del	Frameshift deletion in obscurin, a giant sarcomeric scaffold protein; heteroz...	Cardiomyopathy & Structural Heart	Cardiovascular	Emerging
rs753085	COL27A1	Intronic variant in COL27A1 (collagen type XXVII alpha-1) associated with alt...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Moderate
rs887829	UGT1A1 UGT1A1*80	Promoter variant in UGT1A1 that tags the *28 reduced-expression haplotype; T ...	Vascular Inflammation & Remodeling	Cardiovascular	Strong
rs2295490	TRIB3 Q84R	TRIB3 pseudokinase missense variant that increases Akt inhibition, impairing ...	Blood Sugar & Diabetes	Cardiovascular	Strong
rs4946935	FOXO3	Functionally validated FOXO3 intronic variant that creates an SRF binding sit...	Longevity & Aging	Cardiovascular	Strong
rs7412	APOE E2 determinant	APOE E2 variant - generally protective for cardiovascular health	Cholesterol & Lipoproteins	Cardiovascular	Established
rs74315379	TNNT2 R141W / R151W	Rare pathogenic missense variant in cardiac troponin T causing calcium desens...	Cardiomyopathy & Structural Heart	Cardiovascular	Established
rs767603	LOC105378189	Regulatory variant near LOC105378189 non-coding RNA locus on chromosome 14q23...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Moderate
rs9298506	SOX17	Regulatory tag variant near SOX17 at chromosome 8q11.23 associated with intra...	Vascular Inflammation & Remodeling	Cardiovascular	Strong
rs987237	TFAP2B	Adipocyte transcription factor variant influencing central fat distribution a...	Appetite & Obesity	Cardiovascular	Moderate
rs35136575	APOC1P1 HCR-2 Enhancer Variant	Regulatory variant in the APOE/APOC hepatic enhancer HCR-2 that lowers plasma...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs3774261	ADIPOQ ADIPOQ rs3774261	Intronic ADIPOQ variant that reduces circulating adiponectin levels in G alle...	Fat Storage & Energy	Cardiovascular	Moderate
rs76992529	TTR Val142Ile (V142I)	Most common amyloidogenic TTR variant in African Americans, causing late-onse...	Cardiomyopathy & Structural Heart	Cardiovascular	Established
rs78707713	TSPAN15	Intronic TSPAN15 variant that modulates ADAM10-mediated shedding of GPVI, the...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Strong
rs8192870	CYP7A1 CYP7A1 intron 1 variant	Intronic variant in the rate-limiting bile acid synthesis gene; T allele carr...	Cholesterol & Lipoproteins	Cardiovascular	Moderate
rs9939609	FTO Intron 1 T>A	The most strongly replicated obesity-associated variant, affecting body weigh...	Appetite & Obesity	Cardiovascular	Established
rs3734398	ELOVL2	3' UTR variant in the ELOVL2 elongase gene that reduces DHA synthesis from it...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs699	AGT M235T	Angiotensinogen level variant affecting blood pressure, sodium sensitivity, a...	Fitness & Body	Cardiovascular	Strong
rs6994076	TTPA -980T>A	Regulates expression of the alpha-tocopherol transfer protein, the key determ...	Vitamins & Nutrient Absorption	Cardiovascular	Strong
rs7664413	VEGFC	Intronic variant in the primary lymphangiogenesis growth factor gene associat...	Innate Immunity & Infection Defense	Cardiovascular	Emerging
rs77931234	ACADM c.985A>G (p.Lys329Glu)	Pathogenic missense variant in ACADM reducing MCAD enzyme activity, predispos...	Cardiomyopathy & Structural Heart	Cardiovascular	Established
rs838880	SCARB1	3' UTR variant in SCARB1 that tags a haplotype with reduced SR-BI expression ...	Cholesterol & Lipoproteins	Cardiovascular	Strong
rs9818870	MRAS	3' UTR variant near miRNA binding sites in MRAS, associated with ~15% increas...	Coronary Artery Disease & Atherosclerosis	Cardiovascular	Strong
rs2070744	NOS3 T-786C promoter	NOS3 expression - controls how much eNOS enzyme is produced for nitric oxide ...	Methylation & Detox	Cardiovascular	Strong
rs3798713	ELOVL2	Intronic variant in ELOVL2 associated with altered plasma phospholipid PUFA l...	Triglycerides & Fatty Acids	Cardiovascular	Moderate
rs3856806	PPARG His477His (C1431T)	Synonymous PPARG variant where the T allele reduces type 2 diabetes risk and ...	Fat Storage & Energy	Cardiovascular	Strong
rs7061710	FMO3	Intronic FMO3 variant associated with reduced hepatic oxidation of garlic-der...	Vitamins & Nutrient Absorption	Cardiovascular	Moderate
rs2073067	MTHFD1L MTHFD1L variant	Intronic variant in the mitochondrial folate enzyme MTHFD1L, associated with ...	Methylation & Detox	Cardiovascular	Moderate
rs2943641	IRS1 Near-gene C>T	Regulates insulin signaling efficiency and cellular glucose uptake	Blood Sugar & Diabetes	Cardiovascular	Strong
rs3829462	LIPC	Missense variant in hepatic lipase encoding p.Phe356Leu; the rare C allele (P...	Triglycerides & Fatty Acids	Cardiovascular	Emerging
rs4684847	PPARG PPARG cis-regulatory variant (PR domain recruitment)	Intronic cis-regulatory PPARG variant where the C allele recruits PR domain r...	Fat Storage & Energy	Cardiovascular	Moderate
rs5882	CETP I405V	Missense variant that reduces CETP enzyme activity, raising HDL-C and enlargi...	Longevity & Aging	Cardiovascular	Moderate
rs2236224	MTHFD1 MTHFD1 R653Q	Intronic tag variant in MTHFD1 in strong LD with the R653Q missense variant, ...	Methylation & Detox	Cardiovascular	Moderate
rs3487348	PTPN1 PTPN1 LD Block Co-Variant	Intronic PTPN1 variant in the 100-kb haplotype block; T allele associated wit...	Blood Sugar & Diabetes	Cardiovascular	Moderate
rs3834458	FADS2	A 3-bp deletion in intron 3 of FADS2 that reduces delta-6 desaturase activity...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs4684854	PPARG	Intergenic regulatory variant downstream of PPARG associated with central obe...	Fat Storage & Energy	Cardiovascular	Emerging
rs6198	NR3C1 9β	3'UTR variant that increases glucocorticoid-resistant GRβ isoform expression,...	Longevity & Aging	Cardiovascular	Strong
rs9594759	TNFSF11	Regulatory variant in the RANKL gene affecting bone mineral density and osteo...	Fitness & Body	Cardiovascular	Strong
rs367643250	DYRK1B R102C	Rare gain-of-function variant causing autosomal dominant metabolic syndrome (...	Blood Sugar & Diabetes	Cardiovascular	Strong
rs4148102	ABCG1 ABCG1 intronic PUFA-interaction variant	Intronic variant in the ABCG1 cholesterol efflux transporter gene that modifi...	Triglycerides & Fatty Acids	Cardiovascular	Emerging
rs659366	UCP2	Promoter variant at position -866 of UCP2 that controls mitochondrial uncoupl...	Longevity & Aging	Cardiovascular	Moderate
rs3787345	PTPN1 PTPN1 LD Block Co-Variant	Intronic PTPN1 tag SNP within the 100-kb PTP1B insulin-resistance haplotype b...	Blood Sugar & Diabetes	Cardiovascular	Moderate
rs4775065	LIPC	Intronic LIPC variant associated with susceptibility to low HDL-C and coronar...	Triglycerides & Fatty Acids	Cardiovascular	Moderate
rs4994	ADRB3 Trp64Arg	Beta-3 adrenergic receptor variant that impairs catecholamine-stimulated lipo...	Fat Storage & Energy	Cardiovascular	Moderate
rs6721961	NFE2L2	Promoter variant reducing NRF2 transcriptional activity by >50%, impairing th...	Longevity & Aging	Cardiovascular	Moderate
rs234706	CBS C699T	Common synonymous variant in the CBS gene associated with reduced cardiovascu...	Methylation & Detox	Cardiovascular	Moderate
rs4783244	CDH13	Intronic CDH13 variant altering T-cadherin expression; T allele carriers have...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs5181	LRP8 Trp466Cys	Rare missense variant in the ApoE receptor 2 (LRP8) ligand-binding domain, di...	Fat Storage & Energy	Cardiovascular	Emerging
rs35599367	CYP3A4 *22	Intronic splice variant causing ~50% reduced CYP3A4 mRNA expression, affectin...	Pharmacogenomics	Cardiovascular	Established
rs4939883	LOC105372112	Intronic variant near LIPG whose T allele increases circulating endothelial l...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs660339	UCP2 Ala55Val	Missense variant reducing mitochondrial uncoupling efficiency in white adipos...	Fat Storage & Energy	Cardiovascular	Moderate
rs2228145	IL6R Asp358Ala	Missense variant in the IL-6 receptor that increases receptor shedding and en...	Allergy & Atopic Disease	Cardiovascular	Strong
rs5082	APOA2 -265T>C	Promoter variant that reduces APOA2 expression by 30%; GG homozygotes consumi...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs7675998	NAF1	Regulatory variant near the NAF1 telomerase assembly gene associated with sho...	Longevity & Aging	Cardiovascular	Strong
rs5085	APOA2 APOA2 rs5085	Intronic APOA2 tag SNP that captures the saturated fat-weight gain interactio...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs6954668	SFRP5 SFRP5 Wnt5a inhibitor variant	Intergenic variant near the SFRP5 adipokine locus; the A allele is strongly e...	Fat Storage & Energy	Cardiovascular	Emerging
rs7895833	SIRT1 A>G	Intronic variant in SIRT1 affecting NAD-dependent deacetylase expression and ...	Longevity & Aging	Cardiovascular	Moderate
rs3733890	BHMT R239Q	Missense variant in betaine-homocysteine methyltransferase that reduces enzym...	Methylation & Detox	Cardiovascular	Moderate
rs57137919	ABCG1	ABCG1 promoter variant that reduces transporter expression, impairing macroph...	Triglycerides & Fatty Acids	Cardiovascular	Moderate
rs8192678	PPARGC1A Gly482Ser	Master mitochondrial biogenesis regulator — Ser482 variant reduces PGC-1alpha...	Longevity & Aging	Cardiovascular	Strong
rs3758581	CYP2C19 Ile331Val (CYP2C19*1B)	Common CYP2C19 missense variant defining the *1B allele; the G (Val331) allel...	Pharmacogenomics	Cardiovascular	Moderate
rs5956	CD36	Synonymous coding variant in CD36 fatty acid translocase; the minor A allele ...	Triglycerides & Fatty Acids	Cardiovascular	Emerging
rs709158	PPARG	Intronic PPARG variant in strong linkage disequilibrium with rs1175543; the G...	Fat Storage & Energy	Cardiovascular	Emerging
rs9420907	OBFC1	Intronic variant in the CST complex component STN1/OBFC1 that influences telo...	Longevity & Aging	Cardiovascular	Strong
rs6507931	LIPG	Intronic LIPG variant that modulates HDL cholesterol levels, with strongest e...	Triglycerides & Fatty Acids	Cardiovascular	Moderate
rs7649970	PPARG PPARG C-689T	PPARG PPARγ2 P2 promoter variant that reduces basal promoter activity, elevat...	Fat Storage & Energy	Cardiovascular	Moderate
rs9470080	FKBP5	Intronic FKBP5 variant in the stress-aging haplotype block — T allele carrier...	Longevity & Aging	Cardiovascular	Strong
rs692383	ABCG1 ABCG1 HDL-c Variant	Intronic variant in the ABCG1 cholesterol efflux transporter gene associated ...	Triglycerides & Fatty Acids	Cardiovascular	Emerging
rs767870	ADIPOR2 ADIPOR2 intron 6 variant	Intronic variant in ADIPOR2 (adiponectin receptor 2) associated with reduced ...	Fat Storage & Energy	Cardiovascular	Moderate
rs9536314	KLOTHO F352V (KL-VS)	Longevity-associated variant exhibiting overdominance where heterozygotes sho...	Longevity & Aging	Cardiovascular	Strong
rs3814637	CYP2C19	Upstream CYP2C19 variant associated with altered R-warfarin clearance and inc...	Pharmacogenomics	Cardiovascular	Moderate
rs5443	GNB3 C825T	Synonymous exon-10 variant that triggers alternative splicing of the G-protei...	Hormones & Sleep	Cardiovascular	Strong
rs8034802	LIPC	Intronic LIPC variant associated with higher baseline HDL-C and an amplified ...	Triglycerides & Fatty Acids	Cardiovascular	Emerging
rs822391	ADIPOQ IVS1+407C>T	Intronic variant in the adiponectin gene associated with circulating adiponec...	Fat Storage & Energy	Cardiovascular	Moderate
rs9491696	RSPO3	Intronic enhancer variant in RSPO3 that increases gene expression in adipocyt...	Fat Storage & Energy	Cardiovascular	Strong
rs953413	ELOVL2	Intronic enhancer variant in ELOVL2 that controls transcription factor bindin...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs3751143	P2RX7 Glu496Ala	Loss-of-function variant in the P2X7 receptor that reduces inflammatory respo...	Neurology & Cognition	Cardiovascular	Strong
rs5219	KCNJ11 E23K	Controls the pancreatic beta-cell potassium channel that regulates insulin se...	Blood Sugar & Diabetes	Cardiovascular	Strong
rs964184	ZNF259 ZNF259/BUD13 Triglyceride Variant	Common regulatory variant at the APOA5-ZNF259 locus; G allele reduces ApoAV p...	Triglycerides & Fatty Acids	Cardiovascular	Strong
rs4148323	UGT1A1 *6 Gly71Arg	Phase II glucuronidation enzyme that metabolizes bilirubin and many drugs inc...	Pharmacogenomics	Cardiovascular	Established
rs564398	CDKN2B-AS1	Secondary T2D risk variant at the 9p21 CDKN2A/B locus within ANRIL (CDKN2B-AS...	Blood Sugar & Diabetes	Cardiovascular	Moderate
rs968567	FADS2 FADS2 Promoter D6D Activity Variant	Promoter variant in FADS2 that increases delta-6 desaturase (D6D) expression ...	Triglycerides & Fatty Acids	Cardiovascular	Moderate
rs4149056	SLCO1B1 *5	Statin transport - affects muscle side effect risk with statins	Pharmacogenomics	Cardiovascular	Established
rs587777380	DYRK1B H90P / H90R	Multi-allelic pathogenic locus — both H90P (T>G) and H90R (T>C) disrupt the D...	Blood Sugar & Diabetes	Cardiovascular	Strong
rs6885099	PDE8B PDE8B TSH variant	Intronic TSH quantitative trait locus in phosphodiesterase 8B — the G allele ...	Hormones & Sleep	Cardiovascular	Strong
rs9951026	LIPG	Intronic LIPG variant that tags a haplotype associated with higher LDL choles...	Triglycerides & Fatty Acids	Cardiovascular	Moderate
rs3851179	PICALM	Variant in the PICALM gene affecting amyloid-beta clearance across the blood-...	Neurology & Cognition	Cardiovascular	Established
rs99780	FADS2	Intronic variant in the FADS1-FADS2 cluster influencing delta-6 desaturase ac...	Triglycerides & Fatty Acids	Cardiovascular	Moderate
rs4880	SOD2 Val16Ala	Primary mitochondrial antioxidant enzyme - variant reduces superoxide detoxif...	Methylation & Detox	Cardiovascular	Strong
rs6020611	PTPN1	Intronic PTPN1 tag SNP in the PTP1B regulatory LD block; the minor A allele i...	Blood Sugar & Diabetes	Cardiovascular	Moderate
rs567754	BHMT BHMT-02	Intronic variant in betaine-homocysteine methyltransferase gene associated wi...	Methylation & Detox	Cardiovascular	Moderate
rs61886492	FOLH1 H475Y	Reduces intestinal GCPII enzyme activity by 53%, paradoxically raising circul...	Methylation & Detox	Cardiovascular	Strong
rs653178	SH2B3 ATXN2/SH2B3 12q24 pleiotropic locus	Pleiotropic 12q24 locus variant in SH2B3 (LNK) modulating JAK-STAT cytokine s...	Blood Sugar & Diabetes	Cardiovascular	Strong
rs6814664	SLC2A9 SLC2A9 Uric Acid Transport Variant	Intronic SLC2A9 variant tagging a regulatory signal for renal urate reabsorpt...	Blood Sugar & Diabetes	Cardiovascular	Moderate
rs55785340	CYP3A4 *2	Missense variant reducing CYP3A4-mediated nifedipine clearance, causing eleva...	Pharmacogenomics	Cardiovascular	Moderate
rs6815001	SLC2A9 SLC2A9 Renal Urate Clearance Variant	Intronic variant in the major renal urate transporter; the G allele tags a ha...	Blood Sugar & Diabetes	Cardiovascular	Strong
rs819147	AHCY	Regulatory variant affecting S-adenosylhomocysteine hydrolase expression, inf...	Methylation & Detox	Cardiovascular	Moderate
rs891512	NOS3	Intronic NOS3 variant that alters splicing factor binding and is associated w...	Methylation & Detox	Cardiovascular	Moderate
rs4129267	IL6R IL6R intronic multi-trait variant	Intronic IL6R variant in perfect linkage disequilibrium with the functional A...	Allergy & Atopic Disease	Cardiovascular	Strong
rs780095	GCKR GCKR Glucose-Lipid Regulation Variant	Intronic GCKR enhancer variant on the CGG regulatory haplotype; the G allele ...	Blood Sugar & Diabetes	Cardiovascular	Moderate
rs914232	SLC19A1 RFC1 -43T>C	Regulatory variant that reduces reduced folate carrier protein expression, im...	Methylation & Detox	Cardiovascular	Moderate
rs6025	F5 Leiden	Factor V Leiden - blood clotting disorder affecting thrombosis risk	Pharmacogenomics	Cardiovascular	Established
rs63750066	APP A713T (Calabrian)	Rare pathogenic missense variant in APP at the gamma-secretase cleavage site ...	Neurology & Cognition	Cardiovascular	Strong
rs67784355	CYP3A4 *11 (Thr363Met)	Rare missense variant in CYP3A4 that reduces protein expression and enzymatic...	Pharmacogenomics	Cardiovascular	Emerging
rs67338227	FHL5	Intronic variant in FHL5 (four and a half LIM domains 5), a transcriptional c...	Neurology & Cognition	Cardiovascular	Strong
rs72547511	CYP1A2 CYP1A2*15 (Pro42Arg)	Rare CYP1A2 missense variant at the critical Pro42 position; nearly abolishes...	Pharmacogenomics	Cardiovascular	Moderate
rs72547515	CYP1A2 *16 (Arg377Gln)	Nearly-inactive CYP1A2 missense variant — carriers have severely impaired met...	Pharmacogenomics	Cardiovascular	Moderate
rs872129	CHI3L1 CHI3L1 eQTL Variant	Third independent eQTL signal at the CHI3L1/YKL-40 locus on chromosome 1q32.1...	Allergy & Atopic Disease	Cardiovascular	Moderate
rs762551	CYP1A2 *1F	CYP1A2 *1F intronic inducibility variant — defines fast vs slow caffeine meta...	Pharmacogenomics	Cardiovascular	Strong
rs75932628	TREM2 R47H	Rare missense variant in microglial receptor TREM2 that significantly increas...	Neurology & Cognition	Cardiovascular	Established
rs8007267	GCH1	Promoter variant affecting GTP cyclohydrolase 1 expression and pain sensitivi...	Neurology & Cognition	Cardiovascular	Strong
rs8065080	TRPV1 Ile585Val	Capsaicin receptor variant affecting heat and pain sensitivity	Neurology & Cognition	Cardiovascular	Strong
rs9349379	PHACTR1	Intronic regulatory variant in PHACTR1 that controls endothelin-1 and arteria...	Neurology & Cognition	Cardiovascular	Strong