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Hyperthyroidism

BACH2 · rs604912

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

1 / 4

Its strongest genetic-study result is p = 10−8, 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 3,557 European ancestry cases, 456,942 European ancestry controls, 994 East Asian ancestry cases, 172,656 East Asian ancestry controls.

The effect Each copy of the G allele shifted the measure 0.12 higher (95% confidence interval 0.077-0.162); p = 3 × 10−8.

Where it sits Chromosome 6, band 6q15 — in an intron of BACH2.

What each result means

A/A No copy of the version the research linked to Hyperthyroidism. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Hyperthyroidism. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Hyperthyroidism. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source
A cross-population atlas of genetic associations for 220 human phenotypes
Sakaue S, Kanai M, Tanigawa Y, Karjalainen J, Kurki M, Koshiba S, Narita A, Konuma T, Yamamoto K, Akiyama M, Ishigaki K, Suzuki A
and 34 more — show all
Suzuki K, Obara W, Yamaji K, Takahashi K, Asai S, Takahashi Y, Suzuki T, Shinozaki N, Yamaguchi H, Minami S, Murayama S, Yoshimori K, Nagayama S, Obata D, Higashiyama M, Masumoto A, Koretsune Y, Ito K, Terao C, Yamauchi T, Komuro I, Kadowaki T, Tamiya G, Yamamoto M, Nakamura Y, Kubo M, Murakami Y, Yamamoto K, Kamatani Y, Palotie A, Rivas MA, Daly MJ, Matsuda K, Okada Y
FinnGen
Nature genetics · 2021 · PMID 34594039

Questions about rs604912

What is rs604912?

rs604912 is a single position in the genome, in or near the BACH2 gene. Published research associates it with hyperthyroidism. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs604912 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 rs604912 come from?

GWAS Catalog, Nature genetics 2021, PMID:34594039. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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

Hyperthyroidism (rs604912). MyGeneLog™. https://www.mygenelog.com/variants/rs604912

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