Who was studied 737,823 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals.
The effect
The reported allele is T; the catalogue records no effect size
; p = 1 × 10−14.
How common The T allele had a frequency of about 40% in the people studied.
Where it sits Chromosome 7, band 7q21.2 — in an intron of CYP51A1.
What each result means
C/CPublished research associates this genotype with typical/baseline likelihood of Hematocrit — no copies of the reported risk allele.
C/TPublished research associates this genotype (one copy of the reported risk allele) with an intermediate association with Hematocrit.
T/TPublished research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Hematocrit compared to the general population.
rs12112262 is a single position in the genome, in or near the CYP51A1 gene. Published research associates it with hematocrit. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs12112262 linked to?
On MyGeneLog this position is linked to Blood Cell Counts. The research behind each link, and its sources, are set out on that condition page.
Does having rs12112262 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 rs12112262 come from?
GWAS Catalog, Cell 2020, PMID:32888493. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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