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Estimated bone mineral density

JAG1 · rs35308216

What the study found

Who was studied 448,010 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.06 higher (95% confidence interval 0.054-0.066); p = 2 × 10−77.

How common The T allele had a frequency of about 92% in the people studied.

Where it sits Chromosome 20, band 20p12.2 — in an intron of JAG1.

What ClinVar records

Classification Benign; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2015-03-03. ClinVar record 1272397 NM_000214.3(JAG1):c.1396-155A>G

What this is ClinVar's aggregate record for this position (as of its 2026-10-12 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

C/C No copy of the version the research linked to Estimated bone mineral density. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Estimated bone mineral density. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Estimated bone mineral density. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs35308216

What is rs35308216?

rs35308216 is a single position in the genome, in or near the JAG1 gene. Published research associates it with estimated bone mineral density. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs35308216 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 rs35308216 come from?

GWAS Catalog, Nature genetics 2026, PMID:42432248. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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.

Estimated bone mineral density (rs35308216). MyGeneLog™. https://www.mygenelog.com/variants/rs35308216

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