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Cone-rod Dystrophy, as genome-wide studies have reported it: 29 positions from 1 study. Built from the GWAS Catalog's records and rebuilt when a new position is reported; the figures are the studies'.
This is the record of what genome-wide association studies have found for Cone-rod Dystrophy (the GWAS Catalog's "Cone-rod dystrophy"): 29 positions reported by 1 study. The page is put together by code from the catalogue's records and the studies' own listings, and it is rebuilt whenever the records change, so it always reflects them as they stand.
A study. It contributes 29 positions: rs1131691378 (PRPH2), rs1282472315 (ABCA4), rs1296826479 (PROM1), rs142980820 (CDHR1), rs1437021651 (CRX), rs1439202144 (TTLL5), rs1464167194 (CNGA3), rs1553901823 (PROM1), and 21 more.
The 29 positions lie in or near 20 genes: PRPH2, ABCA4, PROM1, CDHR1, CRX, TTLL5, CNGA3, GUCA1A, ADAM9, RBP3, GUCY2D, RPGR, CACNA1F, POC1B, CLN3, IMPG2, NMNAT1, CRB1, RPE65, CEP290. A gene named here is the catalogue's mapped location for a position, not a mechanism; the studies are cited above so that a reader can go to them.
Read this page as a list of findings about Cone-rod Dystrophy, not as an account of it. Each finding is a position that a genome-wide study linked to the condition across a population; the page adds no description, no prevalence and no advice, because the records hold none. The variant pages linked above give each study's record for its position, and ClinVar's where one exists.
A genotype does not diagnose Cone-rod Dystrophy; a clinician does. No guideline uses the 29 variants on this page to predict it, screen for it or confirm it.
This page was assembled by code from association records. It holds no clinical guidance, because its sources hold none: a genome-wide study reports which positions differ between people with a condition and people without, at the population level, and that is all this page repeats. A question about a symptom, a test or a treatment belongs with a clinician.
Databases, guidelines and references
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Cone-rod Dystrophy. MyGeneLog™. https://www.mygenelog.com/conditions/cone-rod-dystrophy
Cone-rod Dystrophy is the condition the GWAS Catalog files under "Cone-rod dystrophy". This page does not define it in its own words; it lists what genome-wide studies have reported: 29 positions from 1 study, with each study's sample and citation.
Genome-wide studies have reported 29 associated positions. Each common variant has a small effect, and an association in a population is not a cause in any one person.
The catalogue maps the positions to 20 genes: PRPH2, ABCA4, PROM1, CDHR1, CRX, TTLL5, CNGA3, GUCA1A, ADAM9, RBP3, GUCY2D, RPGR, CACNA1F, POC1B, CLN3, IMPG2, NMNAT1, CRB1, RPE65, CEP290. These are where the positions sit, not proof of how they act.
No. They are population-level findings of small effect. Cone-rod Dystrophy is diagnosed by a clinician, and no guideline uses a genotype to predict it.
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