Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863223953
rs863223953
T 0.700 CausalMutation CLINVAR DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000

2016

dbSNP: rs863223953
rs863223953
T 0.700 CausalMutation CLINVAR A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208

2016