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).
Not how much fat a person carries, but where. One landmark study found that reaching the same waist-to-hip ratio through too little hip fat carries more diabetes and heart-disease risk than reaching it through too much waist fat. A second, larger study of the same trait found the genetic effects themselves often differ between women and men.
Read more → HematologicHow many monocytes — the white blood cells that become macrophages, the immune system's general-purpose cleanup and signalling cells — circulate in a person's blood. A measurement rather than a disease, the same way this site's C-reactive protein page is: a number a blood test reports, with some of its variation explained by common genetics.
Read more → BehaviouralNot a page about autism, and not a page about schizophrenia — a page about the genetic overlap between the two. Thirty variants, twenty-eight of which sit within one crowded region on chromosome 6 — the same MHC/HLA region already known as schizophrenia's single strongest signal — which likely means one real association is being counted many times over, not thirty separate findings.
Read more → PharmacogenomicChildhood ALL is cured in more than 85% of cases, so the genetics worth knowing here is not about who gets it — nothing in our catalogue predicts that — but about who reacts badly to which part of the standard treatment. Four variants, four different drugs and side effects, and very different strength of evidence between them.
Read more → CancerThe most common kind of kidney cancer in adults. Six risk loci were already known before this study; a large European-ancestry meta-analysis found seven more, five of which are the variants on this page.
Read more → CancerThe most common subtype of classical Hodgkin lymphoma in Western countries, with genetics of its own beyond the one locus shared by the disease as a whole. The variant here sits near GATA3, a transcription factor central to how immune cells develop — the same immune process the study's other nodular-sclerosis-specific loci cluster around.
Read more → BehaviouralDepression and alcohol dependence often occur together, and this page is specifically about the genetics of that co-occurrence — a different question from either condition alone. The one variant found here was significant only in African American participants; no association reached significance in the European American participants in the same study.
Read more → CancerA distinct histological subtype of ovarian cancer, separate from the more common serous subtype already covered on this site's Ovarian Cancer page. The variant here sits near a gene pair — IFNL3/IFNL4 — almost entirely known for a different disease: predicting how the immune system responds to hepatitis C.
Read more → MusculoskeletalPain and reduced function in the jaw joint and chewing muscles, affecting about 5% of people in the US and twice as many women as men. Both variants here turned up only when the study looked at women separately — and one of the two, genome-wide significant in discovery, failed to replicate.
Read more → AutoimmunePatchy hair loss caused by the immune system attacking hair follicles directly — a different disease from male-pattern baldness despite the shared word "alopecia." About a 2% lifetime risk, usually starting before age 30, affecting men and women alike. The two variants here come from a 2015 meta-analysis that resolved the field's long-known HLA signal and found two loci beyond it.
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 → PharmacogenomicA narrower, distinctly studied outcome of Stevens-Johnson syndrome and toxic epidermal necrolysis: cases triggered by cold medicine that go on to cause severe eye damage. An ethnicity-specific study in Japanese and Korean cohorts found a variant near REC114 — a different gene from this site's general SJS/TEN page.
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.
Read more → HematologicHow fast red blood cells break down in sickle cell anaemia varies between patients in ways that matter clinically. This variant reached genome-wide significance in a study whose headline finding was elsewhere (NPRL3) — its own nearest genes are olfactory receptors with no established link to blood biology, stated plainly rather than dressed up with an invented mechanism.
Read more → PharmacogenomicPazopanib, a targeted cancer therapy, carries a real risk of liver enzyme elevation. The study behind this page found its strongest signal at HLA-B*57:01 (31% of carriers had severe elevation, versus 19% of non-carriers) — this page's AGER variant is a secondary signal from the same study, reported plainly as weaker.
Read more → PharmacogenomicCancer pain relief from opioids varies substantially between patients on the same dose. An explicitly exploratory 71-patient study found a candidate variant in ABAT (GABA transaminase) — reported here as a candidate needing validation, exactly as the study itself frames it, not a finding ready to guide dosing.
Read more → CardiovascularPeople living with HIV on antiretroviral therapy face elevated cardiovascular risk. A small study of 177 men on HAART found a variant in RYR3 — a gene that regulates calcium release in vessel-wall muscle — associated with an early ultrasound marker of artery narrowing, reported honestly as a first finding rather than a settled one.
Read more → CancerOvarian cancer is not one disease — clear cell carcinoma is a distinct, less common histotype, more resistant to standard chemotherapy and more strongly linked to endometriosis. HNF1B, the gene this page's variant sits in, is the most consistently replicated clear-cell-specific susceptibility locus in the literature.
Read more → CancerStomach cancer is split by location — cardia versus non-cardia — because the two behave differently and are linked to different causes, Helicobacter pylori chief among them for the non-cardia form covered here. A pooled Chinese study found a new locus at 1q22 specific to East Asian populations, near ASH1L.
Read more → BehaviouralAnxiety disorders are usually studied one at a time. A meta-analysis of over 18,000 people pooled several of them together to ask whether a shared genetic signal exists across the category, and found one — the strongest hit in its case-control analysis is the variant on this page.
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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.