Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918775
rs121918775
SCN1A ; SCN1A-AS1
0.020 GeneticVariation BEFREE Therefore, we performed a biophysical analysis of three SCN1A missense mutations (R865G, R946C and R946H) we detected in six patients with DS. 21864321

2011
dbSNP: rs121918775
rs121918775
SCN1A ; SCN1A-AS1
0.020 GeneticVariation BEFREE The possibility of participation of ion selectivity dysfunction of the channel in the pathogenesis of SMEI was suggested by a mutation in the pore region (R946C) identified in a SMEI patient. 15277629

2004