Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918799
rs121918799
SCN1A ; SCN1A-AS1 ; LOC102724058
0.010 GeneticVariation BEFREE Here we describe a child with intractable myoclonic epilepsy and autism spectrum disorder who carries an inherited mutation in SCN1A (c.3521C>G, p.T1174S). 22550089

2013