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Stands on its own.
Nothing else here links to this position yet — but the page above is the point: what the
research found, what each genotype means, and where it came from, in language you can
read. Links to conditions, drugs and the senses appear automatically if we write them.
What the study found
Who was studied 17,101 European ancestry cases, 721,947 European ancestry controls.
The effect
Each copy of the C allele carried 1.21 times the odds of Kidney stone disease (95% confidence interval 1.14-1.28); p = 8 × 10−10.
How common The C allele had a frequency of about 92% in the people studied.
Where it sits Chromosome 17, band 17q23.2 — in an intron of BCAS3.
What each result means
C/CTwo copies of the version the research linked to Kidney stone disease. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/TOne copy of the version the research linked to Kidney stone disease. That is a smaller link than two copies.
T/TNo copy of the version the research linked to Kidney stone disease. This is the starting point the study compared everyone against.
Journal of the American Society of Nephrology : JASN · 2023 · PMID 37787550 · open access
Questions about rs117518238
What is rs117518238?
rs117518238 is a single position in the genome, in or near the BCAS3 gene. Published research associates it with kidney stone disease. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
Does having rs117518238 mean I will get this?
No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.
Where does the information about rs117518238 come from?
GWAS Catalog, Journal of the American Society of Nephrology : JASN 2023, PMID:37787550. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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Quoting this page
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Kidney stone disease (rs117518238). MyGeneLog™. https://www.mygenelog.com/variants/rs117518238