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).
"Squamous cell carcinoma" without a qualifier most often means skin cancer — this page is about the lung. A three-stage Han Chinese study found one variant that lowers risk specifically for this histotype; a much larger 2017 meta-analysis then added five more, four of which cluster in one region on chromosome 6.
Read more → AutoimmuneUsually diagnosed and discussed purely as an antibody condition, not a genetic one. The first genome-wide study of it, in 115 Japanese patients, found a locus near C1D conferring substantially elevated risk — part of a picture the paper connects to why live births stay limited even with standard treatment.
Read more → DermatologicAn occupational disease: a severe hypersensitivity reaction some solvent-exposed workers develop to trichloroethylene, an industrial degreasing agent. A study of Chinese factory workers found a genetic risk score at MICA explaining over 20% of the disease's variance — large for this catalogue — with real relevance to pre-employment genetic screening for this specific job risk.
Read more → AutoimmuneA rare autoimmune disease that attacks pigment-bearing cells in the eyes, inner ear, meninges and skin, causing severe recurrent eye inflammation that can threaten vision. A study of 774 cases found a variant in the promoter of IL23R that lowers the gene's activity — in a disease where the affected genes are expressed in the eye's own pigmented tissue.
Read more → BehaviouralFour population-scale studies, from 161,460 to 807,553 people, measured self-reported or broadly defined depression rather than a clinical diagnosis — a related but distinct question from the Major Depressive Disorder page this site already has.
Read more → InfectiousTwo ways of asking the same question — parent-reported diarrhoea at around age one, and the same thing confirmed by a doctor — and one study found both point at the same locus: FUT2, the gene that decides whether the gut lining is a welcoming place for rotavirus and norovirus.
Read more → CancerClearing hepatitis C virus does not reverse liver scarring already present, and people cured with advanced fibrosis keep a real cancer risk for years. A study of 943 cured patients found one variant, in TLL1, that predicts who — independent of the fibrosis and clinical factors already used to judge that risk.
Read more → CancerAlmost always caused by persistent infection with high-risk HPV, which vaccination and screening already address directly. A study of Han Chinese women found a new susceptibility locus at 4q12 — this page's one variant, in the gene EXOC1 — alongside a known immune-gene association.
Read more → PharmacogenomicMost people who complete the hepatitis B vaccine series make a strong antibody response. A minority do not — an already-recognised clinical group, checked by a blood test rather than a genotype. A study of 6,867 Koreans found the strongest signals for who ends up in that group all sit in one gene, HLA-DPB1.
Read more → CardiovascularA heart attack: the moment a coronary artery closes, rather than the years it spends narrowing. Four variants come from the largest case-control study of its time; a fifth was found by watching healthy people prospectively for who had a first one.
Read more → CardiovascularAtherosclerosis narrowing the arteries outside the heart and brain, usually in the legs. This page holds a variant from the first study to find any genetic risk factors for it at all — and the study went as far as showing the risk version of the DNA lowers its nearby gene's activity in the lab.
Read more → NeurologicalCognitive decline caused by damage to the brain's blood supply, the second most common cause of dementia. A variant near a gene called SYK was not just statistically associated with it — a laboratory experiment showed the risk version actually changes how a gene's message gets edited.
Read more → CancerChronic hepatitis B is the leading cause of liver cancer worldwide, but most people with it never develop the disease. Two independent loci, found in two separate studies, each separate who does from who doesn't — one confirmed six times over in more than 3,700 people, the other backed by lab experiments pointing to a tumour-suppressor gene.
Read more → MusculoskeletalA thickening of the connective tissue under the skin of the palm that gradually bends the fingers. A genome-wide study of it found nine risk loci, and six of them independently point at the same signalling pathway — the kind of convergence that makes a genetic finding a mechanism rather than a list.
Read more → SensoryThe leading cause of blindness worldwide, though surgery reliably fixes it where it is available. A locus near CRYAA — a gene the eye's lens is physically built from — showed its activity actually falling in human lens tissue as cataract severity rises.
Read more → MetabolicMost heavy drinkers never develop cirrhosis, which is what made this disease worth a genetic search. The paper behind this page confirmed the field's leading known gene and found two more — and all three turn out to be lipid genes, not alcohol-metabolism genes.
Read more → MetabolicFive measurements — abdominal obesity, high triglycerides, low HDL, high blood pressure and high glucose — that cluster in the same people. Three independent studies, in three different populations, all asked whether that clustering shares a genetic cause and all three answered no, or close to it.
Read more → CancerA tumour-specific subtype of lung cancer, two to five times more common in East Asian patients and the reason a targeted drug class works dramatically better for some patients than others. This page holds one confirmed and one newly found inherited risk locus for it.
Read more → CancerThe most common gynaecological cancer in high-income countries. The largest genetic study of it did not stop at a statistical signal — it showed in the laboratory that the lead variant's region physically touches the promoter of the gene it sits near.
Read more → RespiratoryScarring and stiffening of the tissue between the lungs' air sacs. The genetics of the largest subtype, idiopathic pulmonary fibrosis, keeps returning to a mucus gene and a telomere gene, and this page's four variants are newer loci from the same large study, in different biology again.
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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.