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Folate-deficiency anemia (PheCode 281.13)

near CXXC1 · rs144445234

Where this position leads

Condition: Folate-deficiency Anemia

rs144445234 Condition: Folate-deficiency Anemia Folate-deficiency Anemia Condition rs144445234 rs144445234 near CXXC1

What the study found

Who was studied 450 African American or Afro-Caribbean cases, 120,910 African American or Afro-Caribbean controls, 903 European ancestry cases, 449,159 European ancestry controls.

The effect Each copy of the A allele shifted the measure 2.92 lower (95% confidence interval 2.89-2.95); p = 7 × 10−13.

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

Where it sits Chromosome 18, band 18q21.1 — between genes, 6.3 kb from CXXC1.

What each result means

A/A Two copies of the version the research linked to Folate-deficiency anemia (PheCode 281.13). That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Folate-deficiency anemia (PheCode 281.13). That is a smaller link than two copies.
G/G No copy of the version the research linked to Folate-deficiency anemia (PheCode 281.13). This is the starting point the study compared everyone against.
Source
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program
Verma A, Huffman JE, Rodriguez A, Conery M, Liu M, Ho YL, Kim Y, Heise DA, Guare L, Panickan VA, Garcon H, Linares F
and 59 more — show all
Costa L, Goethert I, Tipton R, Honerlaw J, Davies L, Whitbourne S, Cohen J, Posner DC, Sangar R, Murray M, Wang X, Dochtermann DR, Devineni P, Shi Y, Nandi TN, Assimes TL, Brunette CA, Carroll RJ, Clifford R, Duvall S, Gelernter J, Hung A, Iyengar SK, Joseph J, Kember R, Kranzler H, Kripke CM, Levey D, Luoh SW, Merritt VC, Overstreet C, Deak JD, Grant SFA, Polimanti R, Roussos P, Shakt G, Sun YV, Tsao N, Venkatesh S, Voloudakis G, Justice A, Begoli E, Ramoni R, Tourassi G, Pyarajan S, Tsao P, O'Donnell CJ, Muralidhar S, Moser J, Casas JP, Bick AG, Zhou W, Cai T, Voight BF, Cho K, Gaziano JM, Madduri RK, Damrauer S, Liao KP
Science (New York, N.Y.) · 2024 · PMID 39024449 · open access

Questions about rs144445234

What is rs144445234?

rs144445234 is a single position in the genome, in or near the near CXXC1 gene. Published research associates it with folate-deficiency anemia (phecode 281.13). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs144445234 linked to?

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

Does having rs144445234 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 rs144445234 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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Folate-deficiency anemia (PheCode 281.13) (rs144445234). MyGeneLog™. https://www.mygenelog.com/variants/rs144445234

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