Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917971
rs121917971
SCN1A ; SCN1A-AS1
0.010 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