Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142540948
rs142540948
DEPDC5
0.700 GeneticVariation UNIPROT Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. 27173016

2016
dbSNP: rs142540948
rs142540948
DEPDC5
0.700 GeneticVariation UNIPROT Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. 26505888

2016
dbSNP: rs541024038
rs541024038
DEPDC5
T 0.700 CausalMutation CLINVAR Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy. 26704558

2016
dbSNP: rs564667614
rs564667614
DEPDC5
0.700 GeneticVariation UNIPROT Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. 26505888

2016
dbSNP: rs564667614
rs564667614
DEPDC5
0.700 GeneticVariation UNIPROT Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. 27173016

2016
dbSNP: rs578244490
rs578244490
DEPDC5
0.700 GeneticVariation UNIPROT Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. 27173016

2016
dbSNP: rs578244490
rs578244490
DEPDC5
0.700 GeneticVariation UNIPROT Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. 26505888

2016
dbSNP: rs754608531
rs754608531
DEPDC5
0.700 GeneticVariation UNIPROT Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. 27173016

2016
dbSNP: rs754608531
rs754608531
DEPDC5
0.700 GeneticVariation UNIPROT Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. 26505888

2016
dbSNP: rs757511744
rs757511744
DEPDC5
T 0.700 CausalMutation CLINVAR Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. 26505888

2016
dbSNP: rs772872014
rs772872014
DEPDC5
T 0.700 CausalMutation CLINVAR Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. 26505888

2016
dbSNP: rs780960812
rs780960812
DEPDC5
T 0.700 CausalMutation CLINVAR Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. 26505888

2016
dbSNP: rs886039247
rs886039247
DEPDC5
A 0.700 CausalMutation CLINVAR Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. 26505888

2016
dbSNP: rs886039250
rs886039250
DEPDC5
T 0.700 CausalMutation CLINVAR Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. 26505888

2016
dbSNP: rs886039251
rs886039251
DEPDC5
T 0.700 CausalMutation CLINVAR Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. 26505888

2016
dbSNP: rs886039255
rs886039255
DEPDC5
T 0.700 CausalMutation CLINVAR Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy. 26704558

2016
dbSNP: rs886039257
rs886039257
DEPDC5
G 0.700 CausalMutation CLINVAR Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. 26505888

2016
dbSNP: rs886039258
rs886039258
DEPDC5
TGGATTTG 0.700 CausalMutation CLINVAR Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. 26505888

2016
dbSNP: rs886039265
rs886039265
DEPDC5
T 0.700 CausalMutation CLINVAR Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy. 26704558

2016
dbSNP: rs886039267
rs886039267
DEPDC5
A 0.700 CausalMutation CLINVAR Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. 26505888

2016
dbSNP: rs886039269
rs886039269
DEPDC5
T 0.700 CausalMutation CLINVAR Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. 26505888

2016
dbSNP: rs886039269
rs886039269
DEPDC5
T 0.700 CausalMutation CLINVAR Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy. 26704558

2016
dbSNP: rs886039270
rs886039270
DEPDC5
G 0.700 CausalMutation CLINVAR Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. 26505888

2016
dbSNP: rs886039271
rs886039271
DEPDC5
G 0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400

2016
dbSNP: rs142540948
rs142540948
DEPDC5
0.700 GeneticVariation UNIPROT Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy. 25366275

2015