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Bardet-Biedl Syndrome, as genome-wide studies have reported it: 297 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 297 positions for Bardet-Biedl Syndrome, which the catalogue files as "Bardet-Biedl syndrome". 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. From it, 297 positions on this page: rs1012901050 (BBS1), rs1054138918 (BBS5), rs1057517332 (BBS1), rs1060503690 (BBS1), rs1060503692 (BBS4), rs113994190 (BBS4), rs113994191 (BBS4), rs1160669210 (BBS1), and 289 more.
The 297 positions sit in or beside 18 genes: BBS1, BBS5, BBS4, RPGRIP1L, BBS7, BBS2, BBS12, TRIM32, TTC8, BBS10, BBS9, MKKS, ARL6, WDPCP, IFT27, IFT172, SDCCAG8, TRAPPC3. 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.
Association records say which positions differ, on average, between people with Bardet-Biedl 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.
Nothing on this page diagnoses Bardet-Biedl Syndrome. The 297 variants here are research findings; no guideline uses them to predict, screen for or diagnose the condition — that is a clinician's work.
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
Bardet-Biedl Syndrome. MyGeneLog™. https://www.mygenelog.com/conditions/bardet-biedl-syndrome
In the GWAS Catalog, Bardet-Biedl Syndrome is filed as "Bardet-Biedl syndrome". Rather than define it, this page lists the genome-wide findings: 297 positions from 1 study, each with its study's sample and citation.
Genome-wide studies have reported 297 associated positions. Each common variant has a small effect, and an association in a population is not a cause in any one person.
The catalogue maps the positions to 18 genes: BBS1, BBS5, BBS4, RPGRIP1L, BBS7, BBS2, BBS12, TRIM32, TTC8, BBS10, BBS9, MKKS, ARL6, WDPCP, IFT27, IFT172, SDCCAG8, TRAPPC3. These are where the positions sit, not proof of how they act.
No. They are population-level findings of small effect. Bardet-Biedl Syndrome 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.