Sensitive

Creutzfeldt-Jakob disease (sporadic)

STX6 · rs3747957

Where this position leads

Condition: Sporadic Creutzfeldt-Jakob Disease

rs3747957 Condition: Sporadic Creutzfeldt-Jakob Disease Sporadic Creutzfeldt-Jakob Disease Condition rs3747957 rs3747957 STX6

What the study found

Who was studied 4,110 European ancestry cases, 13,569 European ancestry controls; replicated in 1,098 European ancestry cases, 498 ,016 European ancestry controls.

The effect Each copy of the A allele carried 1.15 times the odds of Creutzfeldt-Jakob disease (sporadic) (95% confidence interval 1·04–1·28); p = 1 × 10−10.

How common The A allele had a frequency of about 41% in the people studied.

Where it sits Chromosome 1, band 1q25.3 — a synonymous change in STX6.

What each result means

A/A Two copies of the version the research linked to Creutzfeldt-Jakob disease (sporadic). That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Creutzfeldt-Jakob disease (sporadic). That is a smaller link than two copies.
G/G No copy of the version the research linked to Creutzfeldt-Jakob disease (sporadic). This is the starting point the study compared everyone against.
Source

Questions about rs3747957

What is rs3747957?

rs3747957 is a single position in the genome, in or near the STX6 gene. Published research associates it with creutzfeldt-jakob disease (sporadic). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs3747957 linked to?

On MyGeneLog this position is linked to Sporadic Creutzfeldt-Jakob Disease. The research behind each link, and its sources, are set out on that condition page.

Does having rs3747957 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 rs3747957 come from?

GWAS Catalog, Lancet Neurol 2020, PMID:32949544. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Creutzfeldt-Jakob disease (sporadic) (rs3747957). MyGeneLog™. https://www.mygenelog.com/variants/rs3747957

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