RS121917973 SCN1A

Health Risk Chr 2:166012273 snv missense variant
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Associated Conditions
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus
type 2
Inborn genetic diseases
Early-infantile DEE
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus
type 2
Inborn genetic diseases
Early-infantile DEE
Population Frequencies
gnomAD ALL
0%
1kG AFR
100%
1kG ALL
0%
1kG AMR
99.9%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in SCN1A
rs3812718 rs121918622 rs121918623 rs121917953 rs121917954 rs121917955 rs121917930 rs1574272192 rs121918624 rs121918625
Ask Dr. Hemsworth about this variant