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Pernicious anemia (PheCode 281.11)

MARCHF1 · rs576359040

Where this position leads

Condition: Pernicious Anemia

rs576359040 Condition: Pernicious Anemia Pernicious Anemia Condition rs576359040 rs576359040 MARCHF1

What the study found

Who was studied 211 African American or Afro-Caribbean cases, 121,521 African American or Afro-Caribbean controls, 1,218 European ancestry cases, 449,047 European ancestry controls.

The effect Each copy of the T allele shifted the measure 3.08 lower (95% confidence interval 3.05-3.1); p = 2 × 10−11.

How common The T allele had a frequency of about 100% in the people studied.

Where it sits Chromosome 4, band 4q32.3 — in an intron of MARCHF1.

What each result means

C/C No copy of the version the research linked to Pernicious anemia (PheCode 281.11). This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Pernicious anemia (PheCode 281.11). That is a smaller link than two copies.
T/T Two copies of the version the research linked to Pernicious anemia (PheCode 281.11). That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs576359040

What is rs576359040?

rs576359040 is a single position in the genome, in or near the MARCHF1 gene. Published research associates it with pernicious anemia (phecode 281.11). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs576359040 linked to?

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

Does having rs576359040 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 rs576359040 come from?

GWAS Catalog, Science (New York, N.Y.) 2024, PMID:39024449. 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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Pernicious anemia (PheCode 281.11) (rs576359040). MyGeneLog™. https://www.mygenelog.com/variants/rs576359040

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