Standard

Systemic mastocytosis

near TPSAB1 · rs9937881

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.

What the study found

Who was studied 93 European ancestry cases, 5,606 European ancestry controls.

The effect Each copy of the T allele carried 2.29 times the odds of Systemic mastocytosis (95% confidence interval 1.99-2.59); p = 3 × 10⁻⁸.

How common The T allele had a frequency of about 21% in the people studied.

Where it sits Chromosome 16, band 16p13.3 — between genes, 4.5 kb from TPSAB1.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of Systemic mastocytosis — no copies of the reported risk allele.

C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Systemic mastocytosis.

T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Systemic mastocytosis compared to the general population.

Source

Results from a Genome-Wide Association Study (GWAS) in Mastocytosis Reveal New Gene Polymorphisms Associated with WHO Subgroups

Nedoszytko B, Sobalska-Kwapis M, Strapagiel D, Lange M, Górska A, Elberink JNGO, van Doormaal J, Słomka M, Kalinowski L, Gruchała-Niedoszytko M, Nowicki RJ, Valent P

and 1 more — show all

Niedoszytko M

International journal of molecular sciences · 2020 · PMID 32752121 · open access

Questions about rs9937881

What is rs9937881?

rs9937881 is a single position in the genome, in or near the near TPSAB1 gene. Published research associates it with systemic mastocytosis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs9937881 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 rs9937881 come from?

GWAS Catalog, Int J Mol Sci 2020, PMID:32752121. 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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Systemic mastocytosis (rs9937881). MyGeneLog™. https://www.mygenelog.com/variants/rs9937881

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