Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918793
rs121918793
SCN1A ; SCN1A-AS1 ; LOC102724058
0.010 GeneticVariation BEFREE Here we report the functional characterization of eight SCN1A mutations (G177E, I227S, R393H, Y426N, H939Q, C959R, delF1289, and T1909I) previously identified in SMEI probands. 17054685

2006