RS121918807 SCN1A

Health Risk Chr 2:165994274 snv missense variant

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Associated Conditions

Severe myoclonic epilepsy in infancy

Inborn genetic diseases

Early-infantile DEE

Severe myoclonic epilepsy in infancy

Inborn genetic diseases

Early-infantile DEE

Population Frequencies

gnomAD ALL

100%

1kG AFR

100%

1kG ALL

100%

1kG AMR

100%

1kG EAS

0.2%

1kG EUR

100%

1kG SAS

100%

Other Variants in SCN1A