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