Standard

Obstructive heart defect

SLC44A2 · rs2360743

What the study found

Who was studied 715 European ancestry, African American or Afro-Caribbean, Hispanic or Latin American, Asian ancestry, Oceanian ancestry, NR ancestry case-parental trios.

The effect The reported allele is T; the catalogue records no effect size ; p = 7 × 10−13.

Where it sits Chromosome 19, band 19p13.2 — in an intron of SLC44A2.

What each result means

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

Questions about rs2360743

What is rs2360743?

rs2360743 is a single position in the genome, in or near the SLC44A2 gene. Published research associates it with obstructive heart defect. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2360743 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 rs2360743 come from?

GWAS Catalog, American journal of medical genetics. Part A 2022, PMID:35451555. 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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Obstructive heart defect (rs2360743). MyGeneLog™. https://www.mygenelog.com/variants/rs2360743

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