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Myeloproliferative neoplasms

JAK2 · rs12339666

Where this position leads

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10⁻¹⁰, 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 524 European ancestry JAK2 negative cases, 2,674 European ancestry controls; replicated in 1,383 European ancestry JAK2 negative cases, 4,609 European ancestry controls, 526 JAK2 negative cases, 5,506 controls.

The effect Each copy of the T allele carried 1.34 times the odds of Myeloproliferative neoplasms (95% confidence interval 1.23-1.47); p = 1 × 10⁻¹⁰.

How common The T allele had a frequency of about 26% in the people studied.

Where it sits Chromosome 9, band 9p24.1 — in an intron of JAK2.

How common each version is

GT

Korean KRGDB

G 75.8% · T 24.2%

Korean Korea4K

G 76.0% · T 24.0%

Korean Korea1K

G 76.5% · T 23.5%

Japanese ToMMo

G 74.0% · T 26.1%

Vietnamese

G 69.9% · T 30.1%

World gnomAD

G 66.2% · T 33.8%

World 1000 Genomes

G 64.7% · T 35.3%

World TOPMed

G 66.2% · T 33.8%

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

G/G No copy of the version the research linked to Myeloproliferative neoplasms. This is the starting point the study compared everyone against.

G/T One copy of the version the research linked to Myeloproliferative neoplasms. That is a smaller link than two copies.

T/T Two copies of the version the research linked to Myeloproliferative neoplasms. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms

Tapper W, Jones AV, Kralovics R, Harutyunyan AS, Zoi K, Leung W, Godfrey AL, Guglielmelli P, Callaway A, Ward D, Aranaz P, White HE

and 38 more — show all

Nature communications · 2015 · PMID 25849990 · open access

Questions about rs12339666

What is rs12339666?

rs12339666 is a single position in the genome, in or near the JAK2 gene. Published research associates it with myeloproliferative neoplasms. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs12339666 linked to?

On MyGeneLog this position is linked to Myeloproliferative Neoplasms. The research behind each link, and its sources, are set out on that condition page.

Does having rs12339666 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 rs12339666 come from?

GWAS Catalog, Nat Commun 2015, PMID:25849990. 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

Myeloproliferative neoplasms (rs12339666). MyGeneLog™. https://www.mygenelog.com/variants/rs12339666

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