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Its strongest genetic-study result is p = 10−9, with 1 associations in the GWAS Catalog.
How this is scored
4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.
What the study found
Who was studied 50,603 European ancestry cases, 1,756,950 European ancestry controls.
The effect
Each copy of the C allele shifted the measure 0.0453 lower (95% confidence interval 0.03-0.06); p = 2 × 10−9.
How common The C allele had a frequency of about 29% in the people studied.
Where it sits Chromosome 1, band 1p36.21 — in an intron of SPEN.
What each result means
C/CTwo copies of the version the research linked to Benign nodular goiter. 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 Benign nodular goiter. That is a smaller link than two copies.
T/TNo copy of the version the research linked to Benign nodular goiter. This is the starting point the study compared everyone against.
Nature genetics · 2026 · PMID 41644669 · open access
Questions about rs35514973
What is rs35514973?
rs35514973 is a single position in the genome, in or near the SPEN gene. Published research associates it with benign nodular goiter. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs35514973 linked to?
On MyGeneLog this position is linked to Benign Nodular Goiter. The research behind each link, and its sources, are set out on that condition page.
Does having rs35514973 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 rs35514973 come from?
GWAS Catalog, Nature genetics 2026, PMID:41644669. 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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