Sensitive

Dementia with Lewy bodies

GBA1 · rs2230288

Where this position leads

What the study found

Who was studied 3,663 European ancestry cases, 5,290 European ancestry controls; replicated in 589 European ancestry cases, 184,000 European ancestry controls.

The effect Each copy of the T allele carried 2.08 times the odds of Dementia with Lewy bodies (95% confidence interval 1.73-2.5); p = 4 × 10⁻¹⁵.

Where it sits Chromosome 1, band 1q22 — a missense change in GBA1.

What ClinVar records

Classification Conflicting classifications of pathogenicity; risk factor for Parkinsonian disorder, Tremor, Rigidity, Cogwheel rigidity, Gaucher disease and 2 more; criteria provided, conflicting classifications (1 of 4 stars, 21 submitters), last evaluated 2026-06-01. ClinVar record 199044 NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)

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 with typical/baseline likelihood of Dementia with Lewy bodies — no copies of the reported risk allele.

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

T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Dementia with Lewy bodies compared to the general population.

Source

Genome-wide association study provides insights into the genetic basis of Lewy body dementia

Zhu P, Jin Z, Wu S, Gao S, He Y, Hu S, Liu F, Chen Y, Wang M, Wang K, Liu G

Molecular psychiatry · 2025 · PMID 41068259

Questions about rs2230288

What is rs2230288?

rs2230288 is a single position in the genome, in or near the GBA1 gene. Published research associates it with dementia with lewy bodies. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2230288 linked to?

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

Does having rs2230288 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 rs2230288 come from?

GWAS Catalog, Molecular psychiatry 2025, PMID:41068259. 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.

Dementia with Lewy bodies (rs2230288). MyGeneLog™. https://www.mygenelog.com/variants/rs2230288

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