Sensitive

Ischemic stroke

COL6A3 · rs146092501

Where this position leads

Condition: Ischaemic Stroke

What the study found

Who was studied 450 Japanese ancestry cases, 5,774 Japanese ancestry controls.

The effect The reported allele is C; the catalogue records no effect size ; p = 1 × 10⁻⁸.

How common The C allele had a frequency of about 9% in the people studied.

Where it sits Chromosome 2, band 2q37.3 — a missense change in COL6A3.

What ClinVar records

Classification Conflicting classifications of pathogenicity for Collagen 6-related myopathy, Bethlem myopathy 1A, Tip-toe gait, COL6A3-related disorder; criteria provided, conflicting classifications (1 of 4 stars, 15 submitters), last evaluated 2026-06-01. ClinVar record 128819 NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys)

What this is ClinVar's aggregate record for this position (as of its 2026-09-24 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 Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Ischemic stroke compared to the general population.

C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Ischemic stroke.

T/T Published research associates this genotype with typical/baseline likelihood of Ischemic stroke — no copies of the reported risk allele.

Source

Identification of nine genes as novel susceptibility loci for early-onset ischemic stroke, intracerebral hemorrhage, or subarachnoid hemorrhage

Yamada Y, Kato K, Oguri M, Horibe H, Fujimaki T, Yasukochi Y, Takeuchi I, Sakuma J

Biomedical reports · 2018 · PMID 29930801 · open access

Questions about rs146092501

What is rs146092501?

rs146092501 is a single position in the genome, in or near the COL6A3 gene. Published research associates it with ischemic stroke. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs146092501 linked to?

On MyGeneLog this position is linked to Ischaemic Stroke. The research behind each link, and its sources, are set out on that condition page.

Does having rs146092501 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 rs146092501 come from?

GWAS Catalog, Biomed Rep 2018, PMID:29930801. 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.

Ischemic stroke (rs146092501). MyGeneLog™. https://www.mygenelog.com/variants/rs146092501

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