Folate-deficiency Anemia, as genome-wide studies have reported it: 6 positions from 1 study, the largest recording 1,353 cases and 570,069 controls (African American or Afro-Caribbean ancestry, European ancestry). Built from the GWAS Catalog's records and rebuilt when a new position is reported; the figures are the studies'.
1 study in the GWAS Catalog report 6 positions for Folate-deficiency Anemia, which the catalogue files as "Folate-deficiency anemia (PheCode 281.13)". MyGeneLog follows the condition as positions arrive: code builds this page from the records, adds each new position when it is reported, and writes no sentence of its own beyond them.
Verma A et al. 2024, in Science — Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Studied in 1,353 cases and 570,069 controls (African American or Afro-Caribbean ancestry, European ancestry). It contributes 6 positions: rs765132976 (near VDAC1P12), rs144445234 (near CXXC1), rs148603992 (KCNIP4), rs181869483 (near RNU6-1059P), rs116187676 (near EEF1A1P35), rs139864875 (CEP83). PMID:39024449.
The 6 positions sit in or beside 6 genes: VDAC1P12, CXXC1, KCNIP4, RNU6-1059P, EEF1A1P35, CEP83. These are locations, as the catalogue records them; whether any of these genes is how a position acts is a question the records leave open.
Of all these, rs765132976 near VDAC1P12 carries the strongest signal: P = 6 × 10-14, in Verma A et al. 2024.
Association records say which positions differ, on average, between people with Folate-deficiency Anemia and people without. They do not describe the condition, say how common it is, or tell anyone what to do, so this page does not either. For a single position, open its variant page: it gives that study's record in fixed sentences, with ClinVar's where there is one.
Folate-deficiency Anemia is diagnosed by a clinician — not from a genotype. None of the 6 variants on this page is used by any guideline to predict, screen for or diagnose it.
Its sources are association records, and association records carry no clinical guidance, so neither does this page. What a genome-wide study reports is a difference between groups of people, not a finding about any one person. Symptoms, tests and treatment are questions for a clinician.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Folate-deficiency Anemia comes down to these specific, well-studied positions — not a diagnosis.
near RNU6-1059P · rs181869483
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Folate-deficiency Anemia. MyGeneLog™. https://www.mygenelog.com/conditions/folate-deficiency-anemia
Folate-deficiency Anemia is the condition the GWAS Catalog files under "Folate-deficiency anemia (PheCode 281.13)". This page does not define it in its own words; it lists what genome-wide studies have reported: 6 positions from 1 study, with each study's sample and citation.
Genome-wide studies have reported 6 associated positions; the largest study behind this page recorded 1,353 cases and 570,069 controls (African American or Afro-Caribbean ancestry, European ancestry). Each common variant has a small effect, and an association in a population is not a cause in any one person.
The positions lie in or near 6 genes: VDAC1P12, CXXC1, KCNIP4, RNU6-1059P, EEF1A1P35, CEP83. A mapped gene is the catalogue's location for a position, not a mechanism.
No. They are population-level findings of small effect. Folate-deficiency Anemia is diagnosed by a clinician, and no guideline uses a genotype to predict it.
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