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Who was studied 20,065 European ancestry cases, 33,065 European ancestry controls, 1,045 other-admixed ancestry cases, 1,103 other-admixed ancestry controls, 1,043 African ancestry cases, 3,206 African ancestry controls.
The effect
Each copy of the G allele carried 0.88 times the odds of Type 1 diabetes; p = 2 × 10−15.
How common The G allele had a frequency of about 23% in the people studied.
Where it sits Chromosome 17, band 17q21.31 — a synonymous change in MAPT.
What ClinVar records
ClassificationBenign for MAPT-Related Spectrum Disorders, Frontotemporal dementia; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 12 submitters), last evaluated 2026-02-04.
ClinVar record 98207NM_001377265.1(MAPT):c.1857A>G (p.Ala619=)
What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.
What each result means
A/ANo copy of the version the research linked to Type 1 diabetes. This is the starting point the study compared everyone against.
A/GOne copy of the version the research linked to Type 1 diabetes. That is a smaller link than two copies.
G/GTwo copies of the version the research linked to Type 1 diabetes. That is the strongest link of the three results. A link in a study is not a diagnosis.
Nature genetics · 2021 · PMID 34127860 · open access
Questions about rs1052553
What is rs1052553?
rs1052553 is a single position in the genome, in or near the MAPT gene. Published research associates it with type 1 diabetes. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs1052553 linked to?
On MyGeneLog this position is linked to Type 1 Diabetes. The research behind each link, and its sources, are set out on that condition page.
Does having rs1052553 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 rs1052553 come from?
GWAS Catalog, Nat Genet 2021, PMID:34127860. 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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Quoting this page
Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.
Type 1 diabetes (rs1052553). MyGeneLog™. https://www.mygenelog.com/variants/rs1052553