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Arthrogryposis, Renal Dysfunction, and Cholestasis 1, as genome-wide studies have reported it: 16 positions from 1 study. Built from the GWAS Catalog's records and rebuilt when a new position is reported; the figures are the studies'.
1 study in the GWAS Catalog report 16 positions for Arthrogryposis, Renal Dysfunction, and Cholestasis 1, which the catalogue files as "Arthrogryposis, renal dysfunction, and cholestasis 1". 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. It contributes 16 positions: rs121434383 (VPS33B), rs121434384 (VPS33B), rs121434385 (VPS33B), rs1263540507 (VPS33B), rs1555459218 (VPS33B), rs1594895847 (VIPAS39), rs1596348299 (VPS33B), rs2041122746 (VPS33B), and 8 more.
The 16 positions lie in or near 2 genes: VPS33B, VIPAS39. 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 Arthrogryposis, Renal Dysfunction, and Cholestasis 1, 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.
Nothing on this page diagnoses Arthrogryposis, Renal Dysfunction, and Cholestasis 1. The 16 variants here are research findings; no guideline uses them to predict, screen for or diagnose the condition — that is a clinician's work.
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
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
Arthrogryposis, Renal Dysfunction, and Cholestasis 1. MyGeneLog™. https://www.mygenelog.com/conditions/arthrogryposis-renal-dysfunction-and-cholestasis-1
In the GWAS Catalog, Arthrogryposis, Renal Dysfunction, and Cholestasis 1 is filed as "Arthrogryposis, renal dysfunction, and cholestasis 1". Rather than define it, this page lists the genome-wide findings: 16 positions from 1 study, each with its study's sample and citation.
Genes play a part: 16 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: VPS33B, VIPAS39. A mapped gene is the catalogue's location for a position, not a mechanism.
No. They are population-level findings of small effect. Arthrogryposis, Renal Dysfunction, and Cholestasis 1 is diagnosed by a clinician, and no guideline uses a genotype to predict it.
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