Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730882229
rs730882229
PTPN23
T 0.700 GeneticVariation CLINVAR

dbSNP: rs730882242
rs730882242
DIAPH1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs759317757
rs759317757
OTUD6B
A 0.700 CausalMutation CLINVAR

dbSNP: rs796053216
rs796053216
SCN8A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs80359826
rs80359826
SLC2A1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs886039798
rs886039798
BBS1 ; ZDHHC24
CT 0.700 CausalMutation CLINVAR

dbSNP: rs773724817
rs773724817
KCNH2
0.010 GeneticVariation BEFREE R863X alteration in HERG channel may be involved in both prolonged QTc interval and epilepsy. 22515331

2012
dbSNP: rs776746
rs776746
CYP3A5 ; ZSCAN25
0.010 GeneticVariation BEFREE rs776746 and rs15524 in the CYP3A5 gene tend to affect CBZ metabolism, and rs2032582, rs10234411 in the ABCB1 gene may contribute to inter-individual variation in CBZ and in CBZ-E transport among patients with epilepsy using CBZ in combination with PHT or PB. 26421491

2015
dbSNP: rs1045642
rs1045642
ABCB1
0.100 GeneticVariation BEFREE C3435T polymorphism of MDR1 gene was analysed by the high resolution melting technique in a group of patients with drug-resistant (n = 106) and drug-responsive epilepsy (n = 67), as well as in non-epileptic children (n = 98) hospitalised at the Department of Neurology, Polish Mother's Memorial Hospital in Lodz. 27391700

2016
dbSNP: rs28898617
rs28898617
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3
0.010 GeneticVariation BEFREE rs28898617 (UGT1A6, A > G) variation was associated with an increase in NCVPA. rs2279020 (GABRA1, G > A) variation was associated with a decreased risk of developing VPA-resistant epilepsy. 27855134

2016
dbSNP: rs587777308
rs587777308
GABRA1
0.010 GeneticVariation BEFREE A p.R112Q mutation in the long extracellular N-terminus was identified in a patient with infantile epilepsy; p.P260L, p.M263T, and p.M263I in transmembrane spanning domain 1 (TM1) were identified in three unrelated patients with West syndrome and a patient with Ohtahara syndrome, respectively; and p.V287L in TM2 was identified in a patient with unclassified early onset epileptic encephalopathy. 26918889

2016
dbSNP: rs3812718
rs3812718
SCN1A ; SCN1A-AS1
0.060 GeneticVariation BEFREE A common SCN1A IVS5-91G>A (rs3812718) allele has been attributed to be a possible modifying factor for epilepsy susceptibility and therapeutic response. 23466530

2013
dbSNP: rs1319484809
rs1319484809
SCN8A
0.010 GeneticVariation BEFREE A comprehensive drug repurposing screen identified potential new candidates for the treatment of epilepsy caused by the R1872Q mutation in the SCN8A gene. 29574705

2018
dbSNP: rs796053229
rs796053229
SCN8A
0.010 GeneticVariation BEFREE A comprehensive drug repurposing screen identified potential new candidates for the treatment of epilepsy caused by the R1872Q mutation in the SCN8A gene. 29574705

2018
dbSNP: rs492146
rs492146 		A 0.700 GeneticVariation GWASCAT A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy. 23962720

2014
dbSNP: rs61670327
rs61670327 		A 0.700 GeneticVariation GWASCAT A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy. 23962720

2014
dbSNP: rs72700966
rs72700966
PTPRD
C 0.700 GeneticVariation GWASCAT A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy. 23962720

2014
dbSNP: rs111908689
rs111908689 		0.700 GeneticVariation GWASCAT A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine. 30868120

2019
dbSNP: rs11214136
rs11214136
BCO2
0.700 GeneticVariation GWASCAT A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine. 30868120

2019
dbSNP: rs1394074
rs1394074
OLFML3
0.700 GeneticVariation GWASCAT A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine. 30868120

2019
dbSNP: rs148173957
rs148173957
LOC105378976
0.700 GeneticVariation GWASCAT A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine. 30868120

2019
dbSNP: rs4895178
rs4895178 		0.700 GeneticVariation GWASCAT A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine. 30868120

2019
dbSNP: rs71547482
rs71547482 		0.700 GeneticVariation GWASCAT A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine. 30868120

2019
dbSNP: rs9833158
rs9833158
LOC105377641
0.700 GeneticVariation GWASCAT A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine. 30868120

2019
dbSNP: rs1057520918
rs1057520918
CACNA1A
0.010 GeneticVariation BEFREE A genotype-phenotype comparison of R1347Q mutation carriers revealed a wide clinical spectrum ranging from (trauma triggered) hemiplegic migraine with and without ataxia, loss of consciousness and epilepsy. 18400034

2008