Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863223953
rs863223953
DNM1L ; YARS2
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
dbSNP: rs863223953
rs863223953
DNM1L ; YARS2
T 0.700 CausalMutation CLINVAR DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000

2016
dbSNP: rs1060505041
rs1060505041
NACC1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553920379
rs1553920379
PPP3CA
AAAGT 0.700 CausalMutation CLINVAR

dbSNP: rs374259530
rs374259530
ADSL
C 0.700 CausalMutation CLINVAR

dbSNP: rs387907260
rs387907260
KCTD7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs727502818
rs727502818
KCNC1
A 0.700 CausalMutation CLINVAR

dbSNP: rs756210458
rs756210458
ADSL
T 0.700 CausalMutation CLINVAR

dbSNP: rs796052686
rs796052686
KCTD7
A 0.700 GeneticVariation CLINVAR