A/ATwo copies of the associated allele. Still a small shift, and still not a finding an individual can act on. The reason to record it is what it points at biologically, not what it predicts.
G/AOne copy of the associated allele. It is close to a coin toss in most populations — about 33% in Europe, 39% in East Asia, 59% in Africa. The measured effect is a small shift in the odds across a population of tens of thousands of people — not something that shows up in one person.
G/GNeither copy carries the associated allele at this position. PTPRF encodes a receptor phosphatase involved in building and maintaining the connections between neurons. On its own this says almost nothing about anyone: the effect of this position is a few percent, and ADHD involves thousands of positions plus a great deal that is not genetic.
ADHD is diagnosed by a clinician from behaviour observed in more than one setting, over time. No genotype contributes to that assessment, and nothing at this position rules the diagnosis in or out.
Source: Demontis et al., Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder, Nature Genetics 2019 (PMID 30478444) — meta-analysis of 20,183 diagnosed individuals and 35,191 controls. Position and alleles checked against Ensembl (GRCh38). Reported P = 1e-8.
Questions about rs3001723
What is rs3001723?
rs3001723 is a single position in the genome, in or near the PTPRF gene. Published research associates it with adhd susceptibility (ptprf). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs3001723 linked to?
On MyGeneLog this position is linked to ADHD (Attention Deficit Hyperactivity Disorder). The research behind each link, and its sources, are set out on that condition page.
Does having rs3001723 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 rs3001723 come from?
Demontis et al., Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder, Nature Genetics 2019 (PMID 30478444) — meta-analysis of 20,183 diagnosed individuals and 35,191 controls. Position and alleles checked against Ensembl (GRCh38). Reported P = 1e-8. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.