Each page covers one condition properly: what it actually is and what it feels like, what causes it, how common it really is and in whom, and how it's diagnosed — followed by the specific variants with a replicated link to it, and, where the research supports it, how genetics can change the way a medicine behaves.
Written in two registers so one page serves both readers: plain language first, then a clinical detail section with the precise terminology, effect sizes and diagnostic thresholds. Every claim is sourced from freely-available published research and cited on the page, so you can check us — or hand the page to your doctor. 385 conditions so far, growing continuously, and free to reuse with attribution (CC BY 4.0).
33 results in Cardiovascular
Transthyretin amyloidosis (ATTR) is when a blood protein called transthyretin falls apart, misfolds and builds up in the heart or the nerves. It can be inherited through a typo in the TTR gene, or come with age in people whose gene is normal. Three medicines are now approved for the heart form.
Read more → CardiovascularA heart muscle disease in which the main pumping chamber enlarges and contracts weakly, and a leading cause of heart failure. The largest study behind this page found 70 genome-wide significant loci and pointed to higher body weight and higher systolic blood pressure as potential causes.
Read more → CardiovascularHypertrophic Obstructive Cardiomyopathy, as genome-wide studies have reported it: 8 positions from 1 study, the largest recording 990 cases and 571,707 controls (African American or Afro-Caribbean ancestry, European ancestry). Every figure comes from the studies themselves, gathered by code from the GWAS Catalog and updated as the records grow.
Read more → CardiovascularAcute Pericarditis, as genome-wide studies have reported it: 13 positions from 1 study, the largest recording 1,045 cases and 571,040 controls (African American or Afro-Caribbean ancestry, European ancestry). Built from the GWAS Catalog's records and rebuilt when a new position is reported; the figures are the studies'.
Read more → CardiovascularCardioembolic Stroke, as genome-wide studies have reported it: 3 positions from 2 studies, the largest recording 10,804 cases and 1,234,808 controls (European ancestry). Every figure comes from the studies themselves, gathered by code from the GWAS Catalog and updated as the records grow.
Read more → CardiovascularBrugada Syndrome, as genome-wide studies have reported it: 7 positions from 2 studies, the largest recording 2,820 cases and 10,001 controls (European ancestry). Assembled by code from the GWAS Catalog's records and kept current as positions arrive; every figure is the studies' own.
Read more → CardiovascularArrhythmia, as genome-wide studies have reported it: 7 positions from 1 study, the largest recording 17,861 cases and 194,592 controls (Japanese ancestry). Every figure comes from the studies themselves, gathered by code from the GWAS Catalog and updated as the records grow.
Read more → CardiovascularCardiomyopathy, as genome-wide studies have reported it: 2 positions from 1 study, the largest recording 7,053 cases and 111,507 controls (African American or Afro-Caribbean ancestry). Assembled by code from the GWAS Catalog's records and kept current as positions arrive; every figure is the studies' own.
Read more → CardiovascularHypertrophic Cardiomyopathy, as genome-wide studies have reported it: 28 positions from 4 studies, the largest recording 890 cases and 666,965 controls (European ancestry, East Asian ancestry). Assembled by code from the GWAS Catalog's records and kept current as positions arrive; every figure is the studies' own.
Read more → CardiovascularWho develops heart failure, not what happens after — a study of 1.9 million people found 66 genetic loci, and that the genetics differ by cause: a blocked artery, a weakly pumping heart, and a stiffly filling one are genetically distinguishable, not one disease with three names.
Read more → CardiovascularA narrowing of the neck arteries that supply the brain, and a real stroke risk factor. The study behind this page confirmed a well-known lipoprotein(a) link and found a second, genuinely new locus that -- unlike the first -- does not also raise coronary heart disease risk.
Read more → CardiovascularA common condition with no approved drug treatment, and a study of nearly half a million people that found a genuinely surprising, causal risk factor: being taller.
Read more → CardiovascularThe most common heart valve disease in older adults -- a narrowing of the aortic valve, usually from calcium buildup over decades. The largest genetic study of it to date found 241 risk loci on the autosomes and 3 more on the X chromosome, in a dataset of nearly 87,000 cases among 2.85 million people.
Read more → CardiovascularThe most common congenital heart defect, present in roughly 1 in 100 to 1 in 200 people. A large genome-wide study's real headline is a biological pathway — cilia and a cell-trafficking complex — validated in animal models, with the variant on this page a separate locus from the same study.
Read more → CardiovascularNot who develops heart failure — this is about people who already have it, and what separates a stable course from one that ends sooner in death or a hospital admission for it. A study of over 50,000 people with established heart failure found that higher body mass index causally worsens that course, and built its own genetic map of the outcome to prove it.
Read more → CardiovascularA group of heart-rhythm disorders caused by the heart's own natural pacemaker malfunctioning — a 2021 GWAS found 4 genome-wide significant risk loci, one of them PITX2, this site's most-recurring atrial fibrillation gene.
Read more → CardiovascularHigh blood pressure that stays above target despite 3 or more medications used together — a 2018 GWAS across European and Hispanic cohorts found a genome-wide significant variant near MSX2.
Read more → CardiovascularA rare, progressive disease of high blood pressure in the lung arteries, whose known genetics was almost entirely one gene (BMPR2) until a 2019 GWAS of 11,744 people found the first common-variant risk loci — in SOX17 and in HLA-DPA1/HLA-DPB1.
Read more → CardiovascularVisible varicose veins, skin changes, and occasionally venous ulcers, caused by faulty vein valves that let blood pool in the legs. Common enough that most people know someone affected, yet this page's variant comes from the first genome-wide study of the condition ever conducted.
Read more → CardiovascularMost genetic studies search one trait at a time. This one asked whether any variants move several cardiometabolic markers together in the same 11,693-person cohort — and found a locus that raises LDL cholesterol while lowering CRP, an awkward result for treating either marker in isolation.
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One diagnosed condition or measurable trait covered properly: what it actually is, what causes it, how common it is, how it is diagnosed, and the specific variants with a replicated link to it — every claim sourced from published research.
No. Every page here is informational, not a diagnosis. A result should be discussed with a doctor or a licensed genetic counselor, never acted on alone.
Because they are not disorders. Height, ABO blood group and a handful of others describe a measurable characteristic with nothing to diagnose — "Trait" says so plainly instead of implying a disease that is not one.
Only after a replicated association in published research, verified against the primary study rather than a gene name or a marketing claim — the same discipline the variant pages themselves follow.