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).
Exotropia, as genome-wide studies have reported it: 2 positions from 1 study, the largest recording 3,998 cases and 583,468 controls (European ancestry). Built from the GWAS Catalog's records and rebuilt when a new position is reported; the figures are the studies'.
Read more → MusculoskeletalLumbar Disc Herniation, as genome-wide studies have reported it: 15 positions from 1 study, the largest recording 80,724 cases and 748,975 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 → DermatologicPalmoplantar Pustulosis, as genome-wide studies have reported it: 2 positions from 1 study, the largest recording 1,456 cases and 402,050 controls (European ancestry). Built from the GWAS Catalog's records and rebuilt when a new position is reported; the figures are the studies'.
Read more → NeurologicalHippocampal Atrophy, as genome-wide studies have reported it: 2 positions from 1 study, the largest recording 1,149 cases, 188 controls, 336 individuals (European ancestry). Built from the GWAS Catalog's records and rebuilt when a new position is reported; the figures are the studies'.
Read more → OphthalmicDiabetic Retinopathy, as genome-wide studies have reported it: 6 positions from 3 studies, the largest recording 47,590 cases and 563,698 controls (African American or Afro-Caribbean ancestry, Hispanic or Latin American ancestry, East Asian ancestry, 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 → OphthalmicCorneal Astigmatism, as genome-wide studies have reported it: 3 positions from 2 studies, the largest recording 69,140 cases and 17,195 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 → CancerNeuroblastoma, as genome-wide studies have reported it: 3 positions from 2 studies, the largest recording 2,101 cases and 4,202 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 → UrologicalIdiopathic Membranous Nephropathy, as genome-wide studies have reported it: 4 positions from 1 study, the largest recording 556 cases and 2,338 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 → HematologicImmunoglobulin Light Chain (AL) Amyloidosis, as genome-wide studies have reported it: 4 positions from 2 studies, the largest recording 1,229 cases, 7,526 controls. Built from the GWAS Catalog's records and rebuilt when a new position is reported; the figures are the studies'.
Read more → MusculoskeletalRepairing a groin hernia is one of the most common operations in the world, and men are far more likely to need it than women. Three studies have mapped the inherited part, the largest finding 63 loci — some of them specific to one sex. 14 positions are on this page.
Read more → RespiratoryNasal polyps and asthma often arrive together, and the pair is harder to treat than either alone. A 2025 study found 131 associations across the two and showed that 71 loci act on both. 15 of its positions for the polyp disease are in this catalogue.
Read more → DevelopmentalStuttering runs in families, and until 2025 almost none of its genetics had been mapped. A study of more than one million people found 57 loci — and a genetic overlap with autism, depression and the ability to keep a musical beat. 18 of its positions are in this catalogue.
Read more → OphthalmicClouding of the lens is the leading cause of blindness among the elderly. A 2021 multiethnic study found 54 loci, 37 of them new, and one that appeared only in women. Six of the positions it reports are in this catalogue.
Read more → BehaviouralPTSD has been harder to map genetically than most psychiatric disorders. A 2024 study of more than 1.2 million people found 95 loci, 80 of them new, and 43 likely causal genes. 13 of the positions it reports are in this catalogue.
Read more → MusculoskeletalThe largest genetic study of osteoarthritis, in 1,962,069 people, found 962 associations and named 700 genes likely to act in the joint. 62 of the positions it reports are in this catalogue — and 51 of them were already here for something else, from height to body weight.
Read more → TraitHow large the thyroid gland is varies between healthy people, and part of that is inherited. A 2011 study of 3,620 people found four loci for thyroid volume — and the same positions raised the odds of goiter.
Read more → SensoryThe largest genetic study of hearing loss, in 723,266 people, found 48 loci — and traced the common-variant signal to a specific structure in the inner ear, the stria vascularis. This page holds 15 of those positions.
Read more → PregnancyDiabetes that first appears in pregnancy shares most of its known genetics with type 2 diabetes. A 2026 study across British, Finnish and Chinese populations added two genes of its own, ELL2 and ATRAID, and pointed at how the body regulates insulin.
Read more → RespiratoryA progressive scarring disease of the lungs with a strong genetic component: two genome-wide studies found risk variants in TOLLIP, SPPL2C and AKAP13 beside the well-known MUC5B signal — and one TOLLIP variant that protects against getting the disease but predicts worse survival in those who get it anyway.
Read more → DevelopmentalA 2025 study of 2,268 children with orofacial clefts asked whether the cleft subtypes share their genetics — the answer was "partly": 27 risk regions, some shared, some specific to one subtype, three pulling in opposite directions.
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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.