Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1024611
rs1024611 		0.010 GeneticVariation BEFREE The rs1024611 AA genotype was associated with a greater susceptibility to drug-resistant epilepsy (p=0.008; OR=2.51, 95% CI: 1.33-4.72), adjusted for age, sex, and seizure type, and the association remained significant after Bonferroni correction for multiple testing (p<0.05). 23996681

2013
dbSNP: rs1045642
rs1045642
ABCB1
0.040 GeneticVariation BEFREE The ABCB1 3435C>T genotype does not have a major role in determining the efficacy of seizure control with initial AED therapy. 19453704

2009
dbSNP: rs1045642
rs1045642
ABCB1
0.040 GeneticVariation BEFREE There was no association of the ABCB1 3435C-->T polymorphism, the three-SNP haplotype, or any gene-wide tag SNP with time to first seizure after starting drug therapy, time to 12-month remission, or time to drug withdrawal due to unacceptable side-effects or to lack of seizure control. 16857572

2006
dbSNP: rs1045642
rs1045642
ABCB1
0.040 GeneticVariation BEFREE The association of ABCB1-C3435T with risk of drug-resistance was significant in the overall population (T allele vs. C allele, OR: 1.21; 95%CI: 1.06-1.39; P=0.006) and in Caucasians, adults, groups treated with various drugs, a '>10 seizures in a year' group based on resistance and a '≥2 years seizure free' group based on response subgroup analysis. 24794827

2014
dbSNP: rs1045642
rs1045642
ABCB1
0.040 GeneticVariation BEFREE One hundred twenty-seven cases of seizure (86 GS and 41 FS) patients were analyzed for MDR1 C3435T and GABRG2 C588T gene polymorphisms using restriction fragment length polymorphism-polymerase chain reaction.Serum PHT levels were analyzed. 22239287

2012
dbSNP: rs1364926780
rs1364926780
ABCB1
0.010 GeneticVariation BEFREE Further, low protein-expressing CGT and TGT (c.-24C>T, c.1249G>A, c.3972C>T) haplotypes were always observed to be present in combination with the AG (c.-1549G>A, c.-1019A>G) haplotype that was over-represented in women with 'no seizures'. 22565165

2012
dbSNP: rs1404008939
rs1404008939
ABCB1
0.010 GeneticVariation BEFREE Further, low protein-expressing CGT and TGT (c.-24C>T, c.1249G>A, c.3972C>T) haplotypes were always observed to be present in combination with the AG (c.-1549G>A, c.-1019A>G) haplotype that was over-represented in women with 'no seizures'. 22565165

2012
dbSNP: rs2273697
rs2273697
ABCC2
0.010 GeneticVariation BEFREE Further, low protein-expressing CGT and TGT (c.-24C>T, c.1249G>A, c.3972C>T) haplotypes were always observed to be present in combination with the AG (c.-1549G>A, c.-1019A>G) haplotype that was over-represented in women with 'no seizures'. 22565165

2012
dbSNP: rs3740066
rs3740066
ABCC2
0.010 GeneticVariation BEFREE Further, low protein-expressing CGT and TGT (c.-24C>T, c.1249G>A, c.3972C>T) haplotypes were always observed to be present in combination with the AG (c.-1549G>A, c.-1019A>G) haplotype that was over-represented in women with 'no seizures'. 22565165

2012
dbSNP: rs72653762
rs72653762
ABCC6
C 0.700 CausalMutation CLINVAR

dbSNP: rs1569540688
rs1569540688
ABCD1 ; BCAP31
C 0.700 GeneticVariation CLINVAR

dbSNP: rs587776625
rs587776625
ADGRG1
T 0.700 CausalMutation CLINVAR

dbSNP: rs397514452
rs397514452
ADK
A 0.700 CausalMutation CLINVAR

dbSNP: rs11001109
rs11001109
ADK
0.010 GeneticVariation BEFREE Comparing Kaplan-Meier curves, rs11001109 (ADK) rare allele homozygosity and rs9444348 (NT5E) heterozygosity were significantly associated with shorter time to first seizure and an increased seizure rate 3 years post-TBI. 26040919

2015
dbSNP: rs886041116
rs886041116
ADNP
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1131692272
rs1131692272
AFF3
T 0.700 CausalMutation CLINVAR

dbSNP: rs121912707
rs121912707
ALDH7A1
G 0.700 CausalMutation CLINVAR Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients. 19128417

2009
dbSNP: rs121912707
rs121912707
ALDH7A1
G 0.700 CausalMutation CLINVAR Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination. 26224730

2015
dbSNP: rs121912707
rs121912707
ALDH7A1
G 0.700 CausalMutation CLINVAR Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. 20370816

2010
dbSNP: rs121912707
rs121912707
ALDH7A1
G 0.700 CausalMutation CLINVAR Mutations in antiquitin in individuals with pyridoxine-dependent seizures. 16491085

2006
dbSNP: rs121912707
rs121912707
ALDH7A1
G 0.700 CausalMutation CLINVAR Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. 22784480

2012
dbSNP: rs121912707
rs121912707
ALDH7A1
G 0.700 CausalMutation CLINVAR Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. 17068770

2007
dbSNP: rs121912707
rs121912707
ALDH7A1
G 0.700 CausalMutation CLINVAR Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy. 22371912

2012
dbSNP: rs121912707
rs121912707
ALDH7A1
G 0.700 CausalMutation CLINVAR Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel. 29056246

2017
dbSNP: rs121912708
rs121912708
ALDH7A1
A 0.700 CausalMutation CLINVAR