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Hypothyroidism

SIK3 · rs12277910

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.

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−22, 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 98,805 European ancestry cases, 948,186 European ancestry controls, 14,588 cases, 117,082 controls; replicated in 34,835 European ancestry cases, 492,149 European ancestry controls.

The effect Each copy of the A allele shifted the measure 0.1 lower (95% confidence interval 0.08-0.12); p = 1 × 10−22.

How common The A allele had a frequency of about 6% in the people studied.

Where it sits Chromosome 11, band 11q23.3 — in an intron of SIK3.

How common each version is

AC
Korean KRGDB
A 25.4% · C 74.6%
Korean Korea4K
A 24.6% · C 75.3%
Korean Korea1K
A 23.9% · C 76.1%
Japanese ToMMo
A 24.6% · C 75.4%
World gnomAD
A 7.6% · C 92.4%
World 1000 Genomes
A 9.6% · C 90.4%
World TOPMed
A 7.6% · C 92.4%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.

What each result means

A/A Two copies of the version the research linked to Hypothyroidism. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/C One copy of the version the research linked to Hypothyroidism. That is a smaller link than two copies.
C/C No copy of the version the research linked to Hypothyroidism. This is the starting point the study compared everyone against.
Source
Genome-wide association study and polygenic risk prediction of hypothyroidism
Rand SA, Ahlberg G, Tragante V, Monfort LM, Zheng C, Feldt-Rasmussen U, Klose MC, Teder-Laving M, Metspalu A, Poulsen HE, Ellervik C, Nygaard B
and 18 more — show all
Erikstrup C, Bruun MT, A Jensen B, Ullum H, Brunak S, Schwinn M, Ostrowski SR, Pedersen OB, Sørensen E, Jonsdottir I, Gudbjartsson DF, Thorleifsson G, Holm H, Saevarsdottir S, Stefansson K, Salling Olesen M, Bundgaard H, Ghouse J
DBDS Genomic Consortium · Estonian Biobank Research Team · 23andMe Research Team
Nature genetics · 2025 · PMID 41238958 · open access

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Hypothyroidism (rs12277910). MyGeneLog™. https://www.mygenelog.com/variants/rs12277910

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