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Mastocytosis (KIT D816V positive)

LINC01412 · rs4662380

What the study found

Who was studied 414 European ancestry cases, 9,504 European ancestry controls; replicated in 621 European ancestry cases, 8,456 European ancestry controls.

The effect The reported allele is C; the catalogue records no effect size ; p = 2 × 10−12.

Where it sits Chromosome 2, band 2q22.3 — in an intron of LINC01412.

What each result means

C/C Two copies of the version the research linked to Mastocytosis (KIT D816V positive). That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to Mastocytosis (KIT D816V positive). That is a smaller link than two copies.
T/T No copy of the version the research linked to Mastocytosis (KIT D816V positive). This is the starting point the study compared everyone against.
Source

Questions about rs4662380

What is rs4662380?

rs4662380 is a single position in the genome, in or near the LINC01412 gene. Published research associates it with mastocytosis (kit d816v positive). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs4662380 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 rs4662380 come from?

GWAS Catalog, American journal of human genetics 2021, PMID:33421400. 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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Mastocytosis (KIT D816V positive) (rs4662380). MyGeneLog™. https://www.mygenelog.com/variants/rs4662380

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