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).
10 results in Ophthalmic
Allergic Conjunctivitis, as genome-wide studies have reported it: 4 positions from 1 study, the largest recording 45,734 cases and 1,084,159 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 → OphthalmicFuchs's Corneal Dystrophy, as genome-wide studies have reported it: 6 positions from 1 study, the largest recording 3,655 cases and 254,909 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 → OphthalmicExotropia, 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 → 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 → 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 → OphthalmicNearsightedness, already affecting an estimated 23% of the world and projected to reach half of it by 2050. Common-variant genetics explains only a fraction of the risk; a splicing mechanism in the X-linked cone opsin genes explains much more in some people, and the same genes are why red-green colour blindness exists.
Read more → OphthalmicThe leading cause of vision loss in older adults in high-income countries. Two genes discovered in 2005 — CFH and ARMS2 — account for most of the known genetic risk; a run of later meta-analyses added ten smaller loci, mostly in the same complement and lipid-metabolism pathways.
Read more → OphthalmicThe cornea thins and bulges into a cone, and vision distorts. It starts in children and young adults and is one of the commonest reasons for a corneal transplant. The first large genetic study of it found collagen — the protein the cornea is built from.
Read more → OphthalmicGlaucoma is a group of eye diseases that silently damage the optic nerve. A variant near SRBD1 has been linked to normal-tension glaucoma in Japanese cohorts, but evidence outside that population is thin.
Read more →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.