Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307113
rs1085307113
MTOR
0.810 GeneticVariation BEFREE Here, we used deep whole-exome sequencing (read depth, 412-668×) validated by site-specific amplicon sequencing (100-347,499×) in paired brain-blood DNA from four subjects with FCDII and uncovered a de novo brain somatic mutation, mechanistic target of rapamycin (MTOR) c.7280T>C (p.Leu2427Pro) in two subjects. 25799227

2015
dbSNP: rs1085307113
rs1085307113
MTOR
0.810 GeneticVariation UNIPROT

dbSNP: rs1085307113
rs1085307113
MTOR
T 0.810 CausalMutation CLINVAR

dbSNP: rs1085307113
rs1085307113
MTOR
G 0.810 CausalMutation CLINVAR

dbSNP: rs749030456
rs749030456
TSC1
0.800 GeneticVariation UNIPROT Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. 28215400

2017
dbSNP: rs587777893
rs587777893
MTOR
0.800 GeneticVariation UNIPROT Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. 27830187

2016
dbSNP: rs587777894
rs587777894
MTOR
0.800 GeneticVariation UNIPROT Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. 27830187

2016
dbSNP: rs587777893
rs587777893
MTOR
0.800 GeneticVariation UNIPROT Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb. 26018084

2015
dbSNP: rs587777893
rs587777893
MTOR
0.800 GeneticVariation UNIPROT Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. 25799227

2015
dbSNP: rs587777893
rs587777893
MTOR
0.800 GeneticVariation UNIPROT Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR. 25878179

2015
dbSNP: rs587777894
rs587777894
MTOR
0.800 GeneticVariation UNIPROT Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb. 26018084

2015
dbSNP: rs587777894
rs587777894
MTOR
0.800 GeneticVariation UNIPROT Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR. 25878179

2015
dbSNP: rs587777894
rs587777894
MTOR
0.800 GeneticVariation UNIPROT Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. 25799227

2015
dbSNP: rs1057519779
rs1057519779
MTOR
G 0.800 CausalMutation CLINVAR

dbSNP: rs1057519779
rs1057519779
MTOR
0.800 GeneticVariation UNIPROT

dbSNP: rs1085307114
rs1085307114
MTOR
C 0.800 CausalMutation CLINVAR

dbSNP: rs1085307114
rs1085307114
MTOR
0.800 GeneticVariation UNIPROT

dbSNP: rs587777893
rs587777893
MTOR
A 0.800 CausalMutation CLINVAR

dbSNP: rs587777894
rs587777894
MTOR
T 0.800 CausalMutation CLINVAR

dbSNP: rs587777894
rs587777894
MTOR
A 0.800 CausalMutation CLINVAR

dbSNP: rs749030456
rs749030456
TSC1
A 0.800 CausalMutation CLINVAR

dbSNP: rs1060505021
rs1060505021
TSC1
0.700 GeneticVariation UNIPROT Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. 28215400

2017
dbSNP: rs745895675
rs745895675
TSC2
0.700 GeneticVariation UNIPROT Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia. 28215400

2017
dbSNP: rs1057519914
rs1057519914
MTOR
0.700 GeneticVariation UNIPROT Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. 27830187

2016
dbSNP: rs587777895
rs587777895
MTOR
0.700 GeneticVariation UNIPROT Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. 27830187

2016