RS3812718 SCN1A

Drug Response Chr 2:166053033 snv intron variant
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What This Variant Does
"Genetic predictors of the maximum doses patients receive during anti-epileptic drugs carbamazepine a...
Associated Conditions
Febrile seizures
familial
3a
carbamazepine response - Dosage
Early-infantile DEE
Febrile seizures
familial
3a
carbamazepine response - Dosage
Early-infantile DEE
ClinVar Assertions (1)
NM_001165963.4(SCN1A):c.603-91G>A
· 3 submitters
Population Frequencies
gnomAD ALL
100%
1kG AFR
34%
1kG ALL
49.3%
1kG AMR
44.5%
1kG EAS
40.4%
1kG EUR
54.1%
1kG SAS
58.1%
Other Variants in SCN1A
rs121918622 rs121918623 rs121917953 rs121917954 rs121917955 rs121917930 rs1574272192 rs121918624 rs121918625 rs121918626
Ask Dr. Hemsworth about this variant