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Marfan Syndrome, as genome-wide studies have reported it: 924 positions from 1 study. Assembled by code from the GWAS Catalog's records and kept current as positions arrive; every figure is the studies' own.
This is the record of what genome-wide association studies have found for Marfan Syndrome (the GWAS Catalog's "Marfan syndrome"): 924 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 924 positions: rs1013747861 (FBN1), rs1042807324 (FBN1), rs1052480459 (FBN1), rs1057517855 (FBN1), rs1057518076 (FBN1), rs1057518881 (FBN1), rs1057518973 (FBN1), rs1057519502 (FBN1), and 916 more.
The 924 positions lie in or near 2 genes: FBN1, LTBP2. 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 Marfan Syndrome 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.
Marfan Syndrome is diagnosed by a clinician — not from a genotype. None of the 924 variants on this page is used by any guideline to predict, screen for or diagnose 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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Marfan Syndrome. MyGeneLog™. https://www.mygenelog.com/conditions/marfan-syndrome
In the GWAS Catalog, Marfan Syndrome is filed as "Marfan syndrome". Rather than define it, this page lists the genome-wide findings: 924 positions from 1 study, each with its study's sample and citation.
Genes play a part: 924 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 2 genes: FBN1, LTBP2. A mapped gene is the catalogue's location for a position, not a mechanism.
No. They are population-level findings of small effect. Marfan Syndrome is diagnosed by a clinician, and no guideline uses a genotype to predict it.
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