Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917921
rs121917921
SCN1A ; SCN1A-AS1 ; LOC102724058
0.010 GeneticVariation BEFREE Here we describe that a C57BL/6 J knock-in mouse strain carrying a heterozygous, clinically relevant SCN1A mutation (A1783V) presents a full spectrum of DS manifestations. 31578435

2019