Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039278
rs886039278
DEPDC5
0.010 GeneticVariation BEFREE No phenotypic rescue was obtained upon expression of epilepsy-associated <i>DEPDC5</i> mutations (p.Arg487* and p.Arg485Gln), indicating that these mutations cause a loss of function of the protein. 29761115

2018