Have questions? Visit https://www.reddit.com/r/SNPedia

rs121917967(A;T)

From SNPedia

Dravet syndrome and severe epileptic seizure syndrome(s) possible
Is agenotype
ofrs121917967
GeneSCN1A
Chromosome2
Position166,046,910
mentionedby
Magnitude8
ReputeBad
Geno Mag Summary
(A;T) 8 Dravet syndrome and severe epileptic seizure syndrome(s) possible
(T;T) 0 common/normal

Originally classified as a variant of unknown significance (VUS); more recently considered likely to be pathogenic. See discussion at rs121917967.