Who was studied 3,590 European ancestry cases, 752,599 European ancestry controls, 172 African ancestry cases, 3,295 African ancestry controls, 79 Admixed American ancestry cases, 1,795 Admixed American ancestry controls.
The effect
Each copy of the C allele shifted the measure 0.229 higher (95% confidence interval 0.15-0.31); p = 2 × 10−8.
How common The C allele had a frequency of about 9% in the people studied.
Where it sits Chromosome 12, band 12p13.32 — between genes, 8.9 kb from GALNT8.
What each result means
C/CPublished research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Non-ischemic heart failure with preserved ejection fraction compared to the general population.
C/TPublished research associates this genotype (one copy of the reported risk allele) with an intermediate association with Non-ischemic heart failure with preserved ejection fraction.
T/TPublished research associates this genotype with typical/baseline likelihood of Non-ischemic heart failure with preserved ejection fraction — no copies of the reported risk allele.
Nature genetics · 2025 · PMID 40038546 · open access
Questions about rs73048654
What is rs73048654?
rs73048654 is a single position in the genome, in or near the near GALNT8 gene. Published research associates it with non-ischemic heart failure with preserved ejection fraction. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs73048654 linked to?
On MyGeneLog this position is linked to Heart Failure. The research behind each link, and its sources, are set out on that condition page.
Does having rs73048654 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 rs73048654 come from?
GWAS Catalog, Nature genetics 2025, PMID:40038546. 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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Non-ischemic heart failure with preserved ejection fraction (rs73048654). MyGeneLog™. https://www.mygenelog.com/variants/rs73048654