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Its strongest genetic-study result is p = 10−19, with 2 associations in the GWAS Catalog.
How this is scored
4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.
What the study found
Who was studied 577,663 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 = 5 × 10−20.
How common The T allele had a frequency of about 60% in the people studied.
Where it sits Chromosome 10, band 10q26.13 — in an intron of FAM53B.
How common each version is
CT
KoreanKRGDB
C 47.0% · T 53.0%
KoreanKorea4K
C 45.5% · T 54.5%
KoreanKorea1K
C 43.1% · T 56.9%
Japanese ToMMo
C 53.2% · T 46.8%
Vietnamese
C 44.0% · T 56.0%
World gnomAD
C 46.1% · T 53.9%
World 1000 Genomes
C 50.3% · T 49.7%
World TOPMed
C 46.2% · T 53.8%
The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.
What each result means
C/CNo copy of the version the research linked to Basophil count. This is the starting point the study compared everyone against.
C/TOne copy of the version the research linked to Basophil count. That is a smaller link than two copies.
T/TTwo copies of the version the research linked to Basophil count. That is the strongest link of the three results. A link in a study is not a diagnosis.
rs7075794 is a single position in the genome, in or near the FAM53B gene. Published research associates it with basophil count. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs7075794 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 rs7075794 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 rs7075794 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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