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).
High 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 → ImmunologicThe most common primary immunodeficiency, usually mild or symptom-free — a 2016 GWAS named four risk loci directly in its title, one of them the ATG13/AMBRA1 region represented on this page.
Read more → ConditionSwollen, inflamed veins in the lowest part of the rectum or anus, common enough that a 2021 study analyzed 944,133 people at once — finding a genome-wide significant, if individually small, risk variant near BMP8B.
Read more → AutoimmuneAn adult-onset autoimmune diabetes often mistaken at first for type 2 diabetes — the first systematic GWAS of LADA, published in 2018, found its strongest genetic risk overlaps with type 1 diabetes, while type 2-diabetes-associated genes also contribute to a lesser degree.
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 → InfectiousA digestive condition most often caused by Helicobacter pylori infection or NSAID use — a 2021 UK Biobank GWAS of 456,327 people found genome-wide significant loci and, unusually, found the disease shares genetics with depression as well as with other digestive conditions.
Read more → AutoimmuneA pediatric vasculitis and the leading cause of acquired heart disease in children in industrialized countries — a 2021 European-ancestry GWAS confirmed ITPKC as a susceptibility gene and found a separate, novel locus specific to the disease's most serious complication, coronary artery aneurysm.
Read more → TraitSmall molecules the kidneys filter, reabsorb, or excrete into urine — three studies found 12 genetic contributors, on this page, most of them in the transporter proteins that move those molecules across kidney cells.
Read more → ConditionA brain tumor arising from glial cells, about 50% more common in men than women — three studies from 2009 to 2018 found 6 contributing variants, on this page, including one whose effect differs by sex.
Read more → ConditionA balloon-like weak spot in a brain artery wall, affecting about 2% of people — three studies from 2008 to 2012 found 6 contributing variants, on this page, including one confirmed twice independently.
Read more → ConditionA 199,000-person Japanese GWAS more than doubled the number of known genetic risk loci for kidney and urinary stones — 6 of the 14 it found are on this page.
Read more → ConditionA chronic inflammatory arthritis of the spine and pelvis, driven mainly by HLA-B27 — three separate studies have also found 6 other variants, on this page, each independently.
Read more → TraitA 139,555-person meta-analysis found 112 genetic loci linked to eye pressure, the single biggest known risk factor for glaucoma — 7 of them are on this page.
Read more → TraitA GWAS found that just 4 genetic variants explain 48% of the heritability of blood VEGF levels — an unusually large share for a genetic score that small.
Read more → TraitFive studies, two of them already covered on this site's femoral neck bone density page, found the genetic loci behind bone density measured at the spine specifically.
Read more → TraitFour studies across different populations all point to one gene, ADIPOQ, as the strongest genetic driver of adiponectin, a hormone inversely linked to type 2 diabetes risk.
Read more → TraitA GWAS in the Framingham cohort found that genetic variation at the IL1RL1 gene, functionally validated in cell culture, drives much of the variation in sST2 — a soluble protein linked to cardiovascular disease risk.
Read more → TraitA meta-analysis raised the number of known genetic loci for allergic sensitization — the presence of allergen-specific antibodies — from 3 to 10, explaining at least a quarter of the trait.
Read more → TraitTwo studies found the genetic loci behind femoral neck bone density — the specific measurement site a clinical DXA scan uses to diagnose osteoporosis.
Read more → TraitA meta-analysis of nearly 48,000 children found 15 loci shaping childhood BMI, mostly shared with adult BMI genetics but including three loci specific to childhood.
Read more →Showing 20 of 385 · page 9 of 20
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.