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Osmotic hemolysis of cold stored red blood cells

SPTA1 · rs2518489

What the study found

Who was studied 3,789 European ancestry women, 773 African American women, 654 Asian ancestry women, 568 Hispanic women, 319 women.

The effect Each copy of the G allele shifted the measure 1.93 higher; p = 3 × 10−16.

How common The G allele had a frequency of about 28% in the people studied.

Where it sits Chromosome 1, band 1q23.1 — in an intron of SPTA1.

What each result means

A/A No copy of the version the research linked to Osmotic hemolysis of cold stored red blood cells. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Osmotic hemolysis of cold stored red blood cells. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Osmotic hemolysis of cold stored red blood cells. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs2518489

What is rs2518489?

rs2518489 is a single position in the genome, in or near the SPTA1 gene. Published research associates it with osmotic hemolysis of cold stored red blood cells. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2518489 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 rs2518489 come from?

GWAS Catalog, BMC genomics 2022, PMID:35321643. 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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Osmotic hemolysis of cold stored red blood cells (rs2518489). MyGeneLog™. https://www.mygenelog.com/variants/rs2518489

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