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Vertex-wise sulcal depth

MSX2 · rs2381939

What the study found

Who was studied 33,748 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 7.35 z score higher; p = 2 × 10−13.

How common The A allele had a frequency of about 17% in the people studied.

Where it sits Chromosome 5, band 5q35.2 — in the 3′ untranslated region of MSX2.

What ClinVar records

Classification Benign for Craniosynostosis 2, Parietal foramina 1; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2018-01-13. ClinVar record 352849 NM_002449.5(MSX2):c.*510A>G

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/A Two copies of the version the research linked to Vertex-wise sulcal depth. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Vertex-wise sulcal depth. That is a smaller link than two copies.
G/G No copy of the version the research linked to Vertex-wise sulcal depth. This is the starting point the study compared everyone against.
Source

Questions about rs2381939

What is rs2381939?

rs2381939 is a single position in the genome, in or near the MSX2 gene. Published research associates it with vertex-wise sulcal depth. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2381939 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 rs2381939 come from?

GWAS Catalog, Science advances 2021, PMID:34910505. 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.

Vertex-wise sulcal depth (rs2381939). MyGeneLog™. https://www.mygenelog.com/variants/rs2381939

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