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Hypercholesterolemia, Familial, 1, as genome-wide studies have reported it: 639 positions from 1 study. Every figure comes from the studies themselves, gathered by code from the GWAS Catalog and updated as the records grow.
1 study in the GWAS Catalog report 639 positions for Hypercholesterolemia, Familial, 1, which the catalogue files as "Hypercholesterolemia, familial, 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 639 positions: rs1013147010 (LDLR), rs1057516127 (LDLR), rs1057519647 (LDLR), rs1057519650 (LDLR), rs1057519654 (LDLR), rs1057519655 (LDLR), rs1057519663 (LDLR), rs1057519664 (LDLR), and 631 more.
The 639 positions lie in or near 4 genes: LDLR, APOB, PCSK9, STAP1. 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 Hypercholesterolemia, Familial, 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 Hypercholesterolemia, Familial, 1. The 639 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
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Hypercholesterolemia, Familial, 1. MyGeneLog™. https://www.mygenelog.com/conditions/hypercholesterolemia-familial-1
Hypercholesterolemia, Familial, 1 is the condition the GWAS Catalog files under "Hypercholesterolemia, familial, 1". This page does not define it in its own words; it lists what genome-wide studies have reported: 639 positions from 1 study, with each study's sample and citation.
Genes play a part: 639 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 4 genes: LDLR, APOB, PCSK9, STAP1. A mapped gene is the catalogue's location for a position, not a mechanism.
No. They are population-level findings of small effect. Hypercholesterolemia, Familial, 1 is diagnosed by a clinician, and no guideline uses a genotype to predict it.
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