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CHARGE Syndrome, as genome-wide studies have reported it: 213 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 CHARGE Syndrome (the GWAS Catalog's "CHARGE syndrome"): 213 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. From it, 213 positions on this page: rs1021645395 (CHD7), rs1024600310 (CHD7), rs1057517956 (CHD7), rs1057519423 (CHD7), rs1057521078 (CHD7), rs1060503180 (CHD7), rs1060503182 (CHD7), rs1060503183 (CHD7), and 205 more.
The 213 positions lie in or near 1 gene: CHD7. 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.
It is a record of what genome-wide studies have reported about CHARGE Syndrome, kept current by code. It is not a description of the condition, an estimate of how common it is, or guidance of any kind — a page that took those from association records would be inventing them. Each variant page linked here carries that study's own record for the position in fixed sentences, and ClinVar's record where one exists.
A genotype does not diagnose CHARGE Syndrome; a clinician does. No guideline uses the 213 variants on this page to predict it, screen for it or confirm it.
Its sources are association records, and association records carry no clinical guidance, so neither does this page. What a genome-wide study reports is a difference between groups of people, not a finding about any one person. Symptoms, tests and treatment are questions for a clinician.
Databases, guidelines and references
Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license
CHARGE Syndrome. MyGeneLog™. https://www.mygenelog.com/conditions/charge-syndrome
In the GWAS Catalog, CHARGE Syndrome is filed as "CHARGE syndrome". Rather than define it, this page lists the genome-wide findings: 213 positions from 1 study, each with its study's sample and citation.
Genes play a part: 213 positions have been linked to it. But each is a common variant of small effect, and a link found across a population does not cause the condition in any one person.
The positions lie in or near 1 gene: CHD7. A mapped gene is the catalogue's location for a position, not a mechanism.
No. Each variant shifts the odds only slightly, and only on average across many people. No guideline predicts CHARGE Syndrome from a genotype; a clinician diagnoses it.
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