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Variants linked to Epilepsy

Continuously updated · newest added Nov 9, 2026

20,983 positions on this site are linked to Epilepsy, out of 2,508,068 published in total. Each was published only after passing the same quality gate; being on this list is an association, not a diagnosis.

Strength of the evidence: all 2+ 3+ 4 Connections: all only those linked to a condition, drug or sense

← Back to Epilepsy

Sensitive

Cortical dysplasia-focal epilepsy syndrome

CNTNAP2 · rs972116002

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Standard

Developmental and epileptic encephalopathy, 9

PCDH19 · rs796052839

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Standard

EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2

GABRG2 · rs796052510

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Sensitive

Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

AFG2A · rs768528444

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Standard

Severe myoclonic epilepsy in infancy

SCN1A-AS1 · rs1698961617

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Standard

Epilepsy, familial focal, with variable foci 4

SCN3A · rs1553527930

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Sensitive

Cortical dysplasia-focal epilepsy syndrome

CNTNAP2 · rs771533907

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Sensitive

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

ASAH1 · rs145873635

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Standard

Pyridoxine-dependent epilepsy

ALDH7A1 · rs372660425

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Standard

EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2

GABRG2 · rs1581351046

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Standard

Pyridoxine-dependent epilepsy

ALDH7A1 · rs1749930301

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Sensitive

Cortical dysplasia-focal epilepsy syndrome

CNTNAP2 · rs752550849

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Standard

Pyridoxine-dependent epilepsy

ALDH7A1 · rs794727058

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Standard

Pyridoxine-dependent epilepsy

ALDH7A1 · rs773814169

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Standard

Autosomal dominant nocturnal frontal lobe epilepsy 1

CHRNA4 · rs121909580

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Standard

Epilepsy with myoclonic atonic seizures

SLC6A1 · rs876657400

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Standard

Progressive myoclonic epilepsy

EPM2A · rs781291421

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Standard

Congenital muscular dystrophy with intellectual disability and severe epilepsy

DPM2 · rs549450795

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Standard

Progressive myoclonic epilepsy type 3

KCTD7 · rs141191660

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Standard

Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities

P4HTM · rs1339145374

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Showing 20 of 20983 · page 8 of 1050

Questions about variants on this site

What is a "variant" page on this site?

One specific position in the genome (an rsID), explained in plain language with what published research has found it linked to, and how strong that link actually is.

Where does new variant data come from?

The public GWAS Catalog, checked every twenty minutes, plus variants added manually after research review. Every one passes the same quality gate before publishing.

Does being listed here mean a variant causes a condition?

No. Listing reflects an association from published research, not a diagnosis or a cause. Most common variants shift probability modestly rather than determining an outcome.

Can I search this list by gene or rsID?

Yes — the search box above matches gene symbols and rsIDs as well as trait names.