RS117217073 SCN8A

Health Risk Chr 12:51769038 snv missense variant
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Associated Conditions
Developmental and epileptic encephalopathy
13
Inborn genetic diseases
Early-infantile DEE
Developmental and epileptic encephalopathy
13
Inborn genetic diseases
Early-infantile DEE
Population Frequencies
gnomAD ALL
98.7%
1kG AFR
100%
1kG ALL
99.5%
1kG AMR
0.9%
1kG EAS
100%
1kG EUR
1.7%
1kG SAS
0.1%
Other Variants in SCN8A
rs202151337 rs397514738 rs587780453 rs201458257 rs587780454 rs587780455 rs587780586 rs587777721 rs587777722 rs587777723
Ask Dr. Hemsworth about this variant