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Usher Syndrome Type 1, as genome-wide studies have reported it: 78 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 Usher Syndrome Type 1 (the GWAS Catalog's "Usher syndrome type 1"): 78 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 78 positions: rs1039517349 (CDH23), rs1057519383 (ADGRV1), rs1057520662 (CDH23), rs1060499716 (MYO7A), rs111033178 (MYO7A), rs111033180 (MYO7A), rs111033198 (MYO7A), rs111033201 (MYO7A), and 70 more.
The 78 positions lie in or near 6 genes: CDH23, ADGRV1, MYO7A, PCDH15, C10orf105, CIB2. 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.
Association records say which positions differ, on average, between people with Usher Syndrome Type 1 and people without. They do not describe the condition, say how common it is, or tell anyone what to do, so this page does not either. For a single position, open its variant page: it gives that study's record in fixed sentences, with ClinVar's where there is one.
Nothing on this page diagnoses Usher Syndrome Type 1. The 78 variants here are research findings; no guideline uses them to predict, screen for or diagnose the condition — that is a clinician's work.
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
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Usher Syndrome Type 1. MyGeneLog™. https://www.mygenelog.com/conditions/usher-syndrome-type-1
Usher Syndrome Type 1 is the condition the GWAS Catalog files under "Usher syndrome type 1". This page does not define it in its own words; it lists what genome-wide studies have reported: 78 positions from 1 study, with each study's sample and citation.
Genes play a part: 78 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 catalogue maps the positions to 6 genes: CDH23, ADGRV1, MYO7A, PCDH15, C10orf105, CIB2. These are where the positions sit, not proof of how they act.
No. They are population-level findings of small effect. Usher Syndrome Type 1 is diagnosed by a clinician, and no guideline uses a genotype to predict it.
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