Sensitive

Focal epilepsy (with hippocampal sclerosis)

C3orf33 · rs1991545

Where this position leads

Condition: Epilepsy

rs1991545 Condition: Epilepsy Epilepsy Condition rs1991545 rs1991545 C3orf33

What the study found

Who was studied 709 European ancestry cases, 24,218 European ancestry controls.

The effect Each copy of the A allele shifted the measure 6.78 higher; p = 1 × 10−11.

How common The A allele had a frequency of about 4% in the people studied.

Where it sits Chromosome 3, band 3q25.31 — in an intron of SLC33A1.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Focal epilepsy (with hippocampal sclerosis) compared to the general population.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Focal epilepsy (with hippocampal sclerosis).
G/G Published research associates this genotype with typical/baseline likelihood of Focal epilepsy (with hippocampal sclerosis) — no copies of the reported risk allele.
Source

Questions about rs1991545

What is rs1991545?

rs1991545 is a single position in the genome, in or near the C3orf33 gene. Published research associates it with focal epilepsy (with hippocampal sclerosis). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1991545 linked to?

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

Does having rs1991545 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 rs1991545 come from?

GWAS Catalog, Nat Commun 2018, PMID:30531953. 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.

Focal epilepsy (with hippocampal sclerosis) (rs1991545). MyGeneLog™. https://www.mygenelog.com/variants/rs1991545

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