Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918622
rs121918622
SCN1A ; SCN1A-AS1 ; LOC102724058
0.010 GeneticVariation BEFREE A relevant example is the pleiotropic R1648H mutation that can cause either mild GEFS+ or severe DS. 30659983

2019