Cholelithiasis with Acute Cholecystitis, as genome-wide studies have reported it: 7 positions from 1 study, the largest recording 2,327 cases and 627,131 controls (African American or Afro-Caribbean ancestry, European ancestry, Hispanic or Latin American ancestry). 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 7 positions for Cholelithiasis with Acute Cholecystitis, which the catalogue files as "Cholelithiasis with acute cholecystitis (PheCode 574.11)". 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.
Verma A et al. 2024, in Science — Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. The catalogue records its sample as 2,327 cases and 627,131 controls (African American or Afro-Caribbean ancestry, European ancestry, Hispanic or Latin American ancestry). It contributes 7 positions: rs190283052 (near EHF), rs557276480 (near U3), rs138848276 (ADAM19), rs557813643 (LARP1), rs185569110 (near RPL4P5), rs191449316 (near SUMF1), rs949226368 (near DYRK1A). PMID:39024449.
The catalogue maps the 7 positions to 7 genes: EHF, U3, ADAM19, LARP1, RPL4P5, SUMF1, DYRK1A. 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.
The strongest association in the records is rs190283052 near EHF, reported by Verma A et al. 2024 at P = 2 × 10-12.
Association records say which positions differ, on average, between people with Cholelithiasis with Acute Cholecystitis 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.
A genotype does not diagnose Cholelithiasis with Acute Cholecystitis; a clinician does. No guideline uses the 7 variants on this page to predict it, screen for it or confirm it.
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.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Cholelithiasis with Acute Cholecystitis comes down to these specific, well-studied positions — not a diagnosis.
near EHF · rs190283052
See detailed info →near U3 · rs557276480
See detailed info →ADAM19 · rs138848276
See detailed info →LARP1 · rs557813643
See detailed info →near RPL4P5 · rs185569110
See detailed info →near SUMF1 · rs191449316
See detailed info →near DYRK1A · rs949226368
See detailed info →Databases, guidelines and references
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Cholelithiasis with Acute Cholecystitis. MyGeneLog™. https://www.mygenelog.com/conditions/cholelithiasis-with-acute-cholecystitis
In the GWAS Catalog, Cholelithiasis with Acute Cholecystitis is filed as "Cholelithiasis with acute cholecystitis (PheCode 574.11)". Rather than define it, this page lists the genome-wide findings: 7 positions from 1 study, each with its study's sample and citation.
Genes play a part: 7 positions have been linked to it, the largest study recording 2,327 cases and 627,131 controls (African American or Afro-Caribbean ancestry, European ancestry, Hispanic or Latin American ancestry). 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 catalogue maps the positions to 7 genes: EHF, U3, ADAM19, LARP1, RPL4P5, SUMF1, DYRK1A. These are where the positions sit, not proof of how they act.
No. Each variant shifts the odds only slightly, and only on average across many people. No guideline predicts Cholelithiasis with Acute Cholecystitis from a genotype; a clinician diagnoses it.
Free to reuse. This page's text is original writing from freely-available research, licensed CC BY 4.0 — reuse it, including commercially, with attribution to MyGeneLog™. It's general research-derived information, not medical advice or a diagnosis — see Terms of Use.