Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Benign Familial Convulsion
CUI: C3889476
Disease: Benign Familial Convulsion
0.010 GeneticVariation BEFREE The mutation in KCNQ3, c.989G>A, was novel and occurred in an infant with BFNS. 25052858 2014