Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10030601
rs10030601
C 0.800 GeneticVariation GWASCAT Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. 22949513

2012

dbSNP: rs10030601
rs10030601
C 0.800 GeneticVariation GWASDB Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. 22949513

2012

dbSNP: rs10157763
rs10157763
0.010 GeneticVariation BEFREE Patients with the risk genotype (rs10157763, AA) presented with low scores on the Glasgow Coma Scale and high rate of epileptic seizures. 27193124

2016

dbSNP: rs10234411
rs10234411
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: rs1024611
rs1024611
0.010 GeneticVariation BEFREE In this study, we investigated the association of a tag SNP of the CCL2 gene, rs1024611 (originally designated as -2578G>A or -2518G>A) with drug-resistant epilepsy in Chinese children with epilepsy. 23996681

2013

dbSNP: rs1045642
rs1045642
0.100 GeneticVariation BEFREE Multidrug resistance in patients undergoing resective epilepsy surgery is not associated with C3435T polymorphism in the ABCB1 (MDR1) gene. 18436433

2008

dbSNP: rs1045642
rs1045642
0.100 GeneticVariation BEFREE We conclude that the ABCB1 C3435T polymorphism may be a genetic marker for drug resistance in epilepsy in Caucasian populations. 25799371

2015

dbSNP: rs1045642
rs1045642
0.100 GeneticVariation BEFREE Studies on epilepsy have focused on the C3435T polymorphism of the ABCB1 gene, but other ABC transporters are also thought to be involved in the transport of antiepileptic drugs. 19167193

2009

dbSNP: rs1045642
rs1045642
0.100 GeneticVariation BEFREE The ABCB1 T-129C, C1236T, G2677T/A and C3435T polymorphisms were genotyped in 210 Japanese epileptics who had been prescribed AEDs, including CBZ, for longer than 2 years. 16753003

2006

dbSNP: rs1045642
rs1045642
0.100 GeneticVariation BEFREE Whether the C3435T polymorphism can act as a marker for the natural history of treated epilepsy remains to be determined. 15857428

2005

dbSNP: rs1045642
rs1045642
0.100 GeneticVariation BEFREE One hundred and eight patients with drug-responsive epilepsy, 63 patients with drug-resistant epilepsy, and 219 control migraine subjects were studied, but the analysis for C3435T allele showed no significant association between the CC genotype and the multidrug-resistant epilepsy. 16542858

2006

dbSNP: rs1045642
rs1045642
0.100 GeneticVariation BEFREE These findings suggest that C3435T is unlikely to be a marker for epilepsy multidrug resistance. 17460550

2007

dbSNP: rs1045642
rs1045642
0.100 GeneticVariation BEFREE The aim of this study was to evaluate the effect of C3435T and G2677T/A polymorphisms of MDR1 on AED resistance in Turkish children with epilepsy. 24213830

2014

dbSNP: rs1045642
rs1045642
0.100 GeneticVariation BEFREE We suggest that the influence of the C3435T polymorphism in predicting the drug-resistance in epilepsy, might be significant and further investigations focusing on carbamazepine and phenytoin, in various ethnic populations are necessary to clarify the effect of C3435T polymorphism on the multidrug resistance in epilepsy patients. 24300029

2014

dbSNP: rs1045642
rs1045642
0.100 GeneticVariation BEFREE For a single gene test, it was demonstrated that 3435C>T in the ABCB1 gene had a significant effect on epilepsy treatment responses, but polymorphisms in the NR1I2 gene did not. 17924830

2007

dbSNP: rs1045642
rs1045642
0.100 GeneticVariation BEFREE The G2677T T and C3435T T alleles as well as the TT, CTT and TTT haplotypes seemed to be significantly associated with drug-resistance epilepsy in our population. 29198163

2018

dbSNP: rs1045642
rs1045642
0.100 GeneticVariation BEFREE Our study did not support any significant association between the MDR1 (C3435T) polymorphism and resistance to CBZ in epilepsy patients from Turkey. 17917461

2008

dbSNP: rs1045642
rs1045642
0.100 GeneticVariation BEFREE All the case-control association researches evaluating the role of MDR1 C3435T polymorphism in childhood epilepsy to antiepileptic drugs were identified. 24553780

2014

dbSNP: rs1045642
rs1045642
0.100 GeneticVariation BEFREE These results suggested that ABCB1 rs1045642 and UGT2B7 rs7439366 may affect OXC pharmacokinetics and therapeutic efficacy in Han Chinese patients with epilepsy. 28837897

2017

dbSNP: rs1045642
rs1045642
0.100 GeneticVariation BEFREE Our data suggest that C1236T, G2677T/A, and C3435T polymorphisms in the ABCB1 gene do not contribute to the response to VPA in patients with epilepsy. 21388909

2011

dbSNP: rs1045642
rs1045642
0.100 GeneticVariation BEFREE These findings rule out the MDR1 c.3435C>T polymorphism having a major role or increasing the risk of drug-resistance suggesting a revision is required to determine the contribution of this polymorphism in predicting drug response in epilepsy. 25458099

2015

dbSNP: rs1045642
rs1045642
0.100 GeneticVariation BEFREE No association was found between ABCB1 C3435T polymorphisms and the risk of having epilepsy (odds ratio 1.07, 95% confidence interval 0.76-1.51; p = 0.34). 20491876

2010

dbSNP: rs1045642
rs1045642
0.100 GeneticVariation BEFREE We failed to show an association between the ABCB1 C3435T polymorphism and the risk of drug-resistance suggesting a revision in contribution of this polymorphism in the multi-drug transporters hypothesis of pharmacoresistance to AEDs in epilepsy. 20605481

2010

dbSNP: rs1045642
rs1045642
0.100 GeneticVariation BEFREE ABCB1 3435C>T was genotyped in 746 Han Chinese patients with epilepsy and 179 controls. 17521963

2007

dbSNP: rs1045642
rs1045642
0.100 GeneticVariation BEFREE In this study, the authors investigated the association between the MDR1 gene polymorphisms, C3435T and G2677AT, and drug resistance epilepsy by using polymerase chain reaction/restriction fragment length polymorphism and pyrosequencing methods in a group of 39 patients with drug-resistant epilepsy and 92 controls. 20448249

2010