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Bartter Disease Type 1, as genome-wide studies have reported it: 27 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.
Genome-wide studies have so far placed 27 positions on Bartter Disease Type 1, from 1 study; the GWAS Catalog files the condition as "Bartter disease type 1". MyGeneLog's code assembles this page from those records and rebuilds it when a new position is reported — nothing here was written by hand, and nothing here goes beyond what the records say.
A study. The 27 positions on this page from it: rs1048935147 (SLC12A1), rs1057520301 (SLC12A1), rs1273695811 (SLC12A1), rs1318795841 (SLC12A1), rs1370120380 (SLC12A1), rs137853158 (SLC12A1), rs137853159 (SLC12A1), rs1400209959 (SLC12A1), and 19 more.
The catalogue maps the 27 positions to 1 gene: SLC12A1. That mapping says where a position sits, in a gene or beside one — not what it does. For what each study measured, follow its citation above.
Association records say which positions differ, on average, between people with Bartter Disease Type 1 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 Bartter Disease Type 1. The 27 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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Bartter Disease Type 1. MyGeneLog™. https://www.mygenelog.com/conditions/bartter-disease-type-1
Bartter Disease Type 1 is the condition the GWAS Catalog files under "Bartter disease type 1". This page does not define it in its own words; it lists what genome-wide studies have reported: 27 positions from 1 study, with each study's sample and citation.
Genes play a part: 27 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: SLC12A1. A mapped gene is the catalogue's location for a position, not a mechanism.
No. Each variant shifts the odds only slightly, and only on average across many people. No guideline predicts Bartter Disease Type 1 from a genotype; a clinician diagnoses it.
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