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