Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906799
rs387906799
KIF1A
A 0.700 CausalMutation CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474

2016
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: rs1057524820
rs1057524820
SCN8A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121913578
rs121913578
MTR
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1556913180
rs1556913180
HUWE1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1556914274
rs1556914274
HUWE1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs34757931
rs34757931
VPS11
G 0.700 CausalMutation CLINVAR

dbSNP: rs370717845
rs370717845
HGSNAT
A 0.700 CausalMutation CLINVAR

dbSNP: rs61750240
rs61750240
MECP2
A 0.700 CausalMutation CLINVAR

dbSNP: rs75184679
rs75184679
RNASEH2B
A 0.700 CausalMutation CLINVAR