Heart & Inflammation

Intronic variant strongly associated with elevated lipoprotein(a) levels and significantly increased risk of coronary artery disease and aortic valve stenosis

Loss-of-function variant that naturally lowers LDL cholesterol by 15-28% and reduces coronary disease risk by up to 47%

Influences HDL cholesterol levels and particle size through effects on cholesterol ester transfer protein activity

Silent variant affecting LDL particle number and lipid metabolism; T allele carriers have higher ApoB, LDL-C, and total cholesterol levels

3' UTR variant in angiotensin II type 1 receptor affecting blood pressure regulation and ARB drug response

Affects paraoxonase-1 enzyme activity for detoxifying organophosphates and protecting LDL from oxidation

3' UTR variant that modulates baseline C-reactive protein levels and inflammatory status

Promoter variant affecting IL-1 beta production, influencing inflammatory response and cardiovascular disease risk

Common regulatory variant in the LDL receptor gene affecting LDLR expression, baseline LDL cholesterol levels, and statin response

Regulatory variant that increases sortilin expression, lowering LDL cholesterol and cardiovascular risk

Regulates triglyceride metabolism through effects on APOC3 expression in the 3'UTR

Synonymous exon 2 variant that influences baseline C-reactive protein expression and inflammatory phenotypes

Promoter variant affecting interleukin-8 transcription and inflammatory burden

Promoter variant affecting IL-10 production — a key anti-inflammatory cytokine regulating inflammation and cardiovascular risk

Second most common inherited thrombophilia; the A allele raises prothrombin levels by 30%, increasing venous thromboembolism risk 2-5 fold and is highly actionable for women considering oral contraceptives

Promoter variant that reduces hepatic lipase activity, raising HDL-C levels but shifting to larger, less protective HDL particles with a genotype-specific dietary fat response

Promoter variant that reduces APOA5 expression, impairing lipoprotein lipase activity and raising triglycerides by 15–36%; major determinant of hypertriglyceridemia and dietary fat response

Intronic variant in the adiponectin gene that influences circulating adiponectin levels, insulin sensitivity, and metabolic response to diet; the T allele is associated with lower adiponectin and higher insulin resistance

Tag SNP for the ABO blood group locus; T allele marks blood type O (lower clotting proteins), C allele marks non-O types (A, B, AB) with elevated VTE and cardiovascular risk

Synonymous exon 2 variant in the adiponectin gene that affects mRNA stability and adiponectin secretion; the G allele is associated with lower circulating adiponectin, higher metabolic syndrome risk, and altered fat distribution

TGF-beta signaling regulator variant identified as the top shared locus between migraine and type 2 diabetes

Adipose tissue vascularization variant near VEGFA influencing fat distribution, insulin resistance, and waist-to-hip ratio with strong female-specific effects

Independent 9p21.3 CAD risk signal in ANRIL; G allele elevates coronary artery disease risk ~30% per allele and is specifically amplified by sugar-sweetened beverage intake while vegetable intake attenuates risk

Intronic variant in MIA3/TANGO1 affecting collagen secretion and vascular smooth muscle cell behavior, with well-replicated association with coronary artery disease risk

Pleiotropic missense variant reducing SH2B3 inhibitory function, increasing blood pressure, CAD risk, platelet count, and susceptibility to autoimmune diseases

Missense variant in ZC3HC1/NIPA altering cell cycle regulation; the T (His363) allele is protective against coronary artery disease (OR 0.90, p=2.4×10⁻¹⁷)

Intronic regulatory variant near the PMCA1 calcium pump gene, one of the most replicated blood pressure GWAS hits; the common A allele reduces calcium efflux efficiency in vascular cells, raising blood pressure ~1 mmHg per allele

Promoter variant in aldosterone synthase increasing CYP11B2 transcription, associated with elevated aldosterone, higher blood pressure, and sodium-sensitive left ventricular hypertrophy

3'UTR variant that disrupts miR-425 binding, increasing atrial natriuretic peptide levels and conferring cardioprotection against hypertension and metabolic syndrome

Intronic regulatory variant modulating FURIN expression via allele-specific DNA methylation, associated with coronary artery disease risk and blood pressure through macrophage and endothelial cell mechanisms

Missense variant in the protease-like domain of apolipoprotein(a) causing markedly elevated Lp(a) levels and substantially increased risk of coronary artery disease, peripheral vascular disease, and aortic valve stenosis; carriers show differential benefit from aspirin therapy

3' UTR variant near miRNA binding sites in MRAS, associated with ~15% increased coronary artery disease risk through altered vascular smooth muscle cell signaling