rs121917967(A;T)
From SNPedia
Dravet syndrome and severe epileptic seizure syndrome(s) possible |
Is a | genotype |
of | rs121917967 |
Gene | SCN1A |
Chromosome | 2 |
Position | 166,046,910 |
mentioned | by |
Magnitude | 8 |
Repute | Bad |
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.