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Nemaline Myopathy 2, as genome-wide studies have reported it: 474 positions from 1 study. Every figure comes from the studies themselves, gathered by code from the GWAS Catalog and updated as the records grow.
This is the record of what genome-wide association studies have found for Nemaline Myopathy 2 (the GWAS Catalog's "Nemaline myopathy 2"): 474 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. The 474 positions on this page from it: rs1011425121 (NEB), rs10172023 (NEB), rs1032240985 (NEB), rs1035343199 (NEB), rs1037388276 (NEB), rs1039759571 (NEB), rs1057515575 (NEB), rs1057516676 (NEB), and 466 more.
The 474 positions sit in or beside 1 gene: NEB. 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.
Read this page as a list of findings about Nemaline Myopathy 2, 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.
Nothing on this page diagnoses Nemaline Myopathy 2. The 474 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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Nemaline Myopathy 2. MyGeneLog™. https://www.mygenelog.com/conditions/nemaline-myopathy-2
Nemaline Myopathy 2 is the condition the GWAS Catalog files under "Nemaline myopathy 2". This page does not define it in its own words; it lists what genome-wide studies have reported: 474 positions from 1 study, with each study's sample and citation.
Genes play a part: 474 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: NEB. A mapped gene is the catalogue's location for a position, not a mechanism.
No. They are population-level findings of small effect. Nemaline Myopathy 2 is diagnosed by a clinician, and no guideline uses a genotype to predict it.
Free to reuse, non-commercially. This page's text is original writing from freely-available research, licensed CC BY-NC 4.0 — share and adapt it with attribution to MyGeneLog™; commercial use is licensed. It's general research-derived information, not medical advice or a diagnosis — see Terms of Use.