Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909323
rs121909323
CACNA1A
A 0.700 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015
dbSNP: rs786200962
rs786200962
CACNA1A
G 0.700 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015
dbSNP: rs786200963
rs786200963
CACNA1A
T 0.700 GeneticVariation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015
dbSNP: rs796053124
rs796053124
SCN2A
T 0.700 CausalMutation CLINVAR SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. 20956790

2010
dbSNP: rs387906686
rs387906686
SCN2A
T 0.700 CausalMutation CLINVAR

dbSNP: rs863224852
rs863224852
CACNA1A
0.010 GeneticVariation BEFREE Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation. 27871455

2016
dbSNP: rs137852620
rs137852620
SLC1A3
0.010 GeneticVariation BEFREE We identified a missense C186S mutation that segregated with EA in 3 family members. 19139306

2009
dbSNP: rs121908226
rs121908226
CACNA1A
0.010 GeneticVariation BEFREE The Glu 1757 Lys missense mutation is likely to be pathogenic, causing episodic ataxia within a family whose phenotype is indistinguishable from EA2 except for a slightly later age of onset. 11176968

2001
dbSNP: rs1805031
rs1805031
CACNB4
0.010 GeneticVariation BEFREE The missense mutation C104F was identified both in a German family with generalized epilepsy and praxis-induced seizures and in a French Canadian family with episodic ataxia. 10762541

2000