Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587784482
rs587784482
TUBA1A
A 0.700 CausalMutation CLINVAR

dbSNP: rs863223361
rs863223361
DYNC1H1
A 0.700 CausalMutation CLINVAR

dbSNP: rs863223377
rs863223377
WDR62
C 0.700 CausalMutation CLINVAR

dbSNP: rs121434592
rs121434592
AKT1
0.010 GeneticVariation BEFREE Within human FMCD-affected brain, we found that cells showing activation of the PI3K-AKT-mTOR pathway were enriched for the AKT3(E17K) mutation. 26523971

2015
dbSNP: rs397514606
rs397514606
AKT3
0.010 GeneticVariation BEFREE Within human FMCD-affected brain, we found that cells showing activation of the PI3K-AKT-mTOR pathway were enriched for the AKT3(E17K) mutation. 26523971

2015