Links from this page to related variants, conditions, drugs and topics are not included for automated readers. Those connections are the Gene Knowledge Graph and are licensed as data: https://www.mygenelog.com/license
Bethlem Myopathy 1A, as genome-wide studies have reported it: 194 positions from 1 study. Every figure comes from the studies themselves, gathered by code from the GWAS Catalog and updated as the records grow.
1 study in the GWAS Catalog report 194 positions for Bethlem Myopathy 1A, which the catalogue files as "Bethlem myopathy 1A". MyGeneLog follows the condition as positions arrive: code builds this page from the records, adds each new position when it is reported, and writes no sentence of its own beyond them.
A study. The 194 positions on this page from it: rs1002726737 (COL6A1), rs1012567148 (COL6A2), rs1057517988 (COL6A2), rs1057521152 (COL6A1), rs1064793840 (COL6A1), rs111697581 (COL6A2), rs112667801 (COL6A1), rs112814811 (COL6A1), and 186 more.
The 194 positions sit in or beside 3 genes: COL6A1, COL6A2, COL6A3. These are locations, as the catalogue records them; whether any of these genes is how a position acts is a question the records leave open.
It is a record of what genome-wide studies have reported about Bethlem Myopathy 1A, 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 Bethlem Myopathy 1A; a clinician does. No guideline uses the 194 variants on this page to predict it, screen for it or confirm it.
Everything here comes from population-level association records, put together by code. Those records compare groups of people; they do not examine anyone, and they give no guidance on care. For symptoms, testing or treatment, ask 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
Bethlem Myopathy 1A. MyGeneLog™. https://www.mygenelog.com/conditions/bethlem-myopathy-1a
In the GWAS Catalog, Bethlem Myopathy 1A is filed as "Bethlem myopathy 1A". Rather than define it, this page lists the genome-wide findings: 194 positions from 1 study, each with its study's sample and citation.
Genes play a part: 194 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 3 genes: COL6A1, COL6A2, COL6A3. These are where the positions sit, not proof of how they act.
No. Each variant shifts the odds only slightly, and only on average across many people. No guideline predicts Bethlem Myopathy 1A from a genotype; a clinician diagnoses it.
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