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Variants linked to Epilepsy

Continuously updated · newest added Nov 8, 2026

20,983 positions on this site are linked to Epilepsy, out of 2,505,961 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

Standard

Congenital hypotonia, epilepsy, developmental delay, and digital anomalies

ATN1 · rs2138219892

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Standard

Epilepsy with myoclonic atonic seizures

SLC6A1 · rs1085307804

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Standard

Developmental and epileptic encephalopathy

STXBP1 · rs1554776948

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Standard

Epilepsy with myoclonic atonic seizures

SLC6A1 · rs1553688015

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Sensitive

Infantile epilepsy syndrome

STXBP1 · rs1841869298

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Sensitive

Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders

SYN1 · rs2147927599

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Sensitive

Cortical dysplasia-focal epilepsy syndrome

CNTNAP2 · rs1176180722

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Sensitive

Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome

KCNK4 · rs1565369746

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Standard

Developmental and epileptic encephalopathy

KCNQ2 · rs1555869700

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Sensitive

Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders

SYN1 · rs757027813

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Sensitive

Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders

SYN1 · rs1556860663

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Sensitive

Infantile epilepsy syndrome

STXBP1 · rs1554777470

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Standard

Progressive myoclonic epilepsy

CSTB · rs1569006250

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Standard

Epilepsy, early-onset, vitamin B6-dependent

PLPBP · rs1057519424

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Sensitive

Infantile epilepsy syndrome

STXBP1 · rs886041668

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Sensitive

Autism spectrum disorder - epilepsy - arthrogryposis syndrome

SLC35A3 · rs398122524

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Sensitive

Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders

SYN1 · rs2147913419

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Sensitive

Cortical dysplasia-focal epilepsy syndrome

CNTNAP2 · rs267601384

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Standard

Pyridoxine-dependent epilepsy

ALDH7A1 · rs1064794242

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Standard

Polyhydramnios, megalencephaly, and symptomatic epilepsy

STRADA · rs1230074670

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Showing 20 of 20983 · page 2 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.