epilepsy |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
All Snps(Total Genotypes:144) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs1044352 | 25087078 | 5099 | PCDH7 | umls:C0014544 | GWASCAT | Meta-analysis of the all-epilepsy cohort identified loci at 2q24.3 (p=8·71 × 10(-10)), implicating SCN1A, and at 4p15.1 (p=5·44 × 10(-9)), harbouring PCDH7, which encodes a protocadherin molecule not previously implicated in epilepsy. | 0.120271442 | 2014 | PCDH7 | 4 | 31146252 | G | A,C,T |
rs1045642 | 23984379 | 1577 | CYP3A5 | umls:C0014544 | BeFree | The study failed to corroborate association between polymorphism CYP3A5*3 and C3435T polymorphism in MDR1 gene and pharmacoresistant epilepsy. | 0.002909916 | 2013 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 24213830 | 5243 | ABCB1 | umls:C0014544 | BeFree | The drug-transporter gene MDR1 C3435T and G2677T/A polymorphisms and the risk of multidrug-resistant epilepsy in Turkish children. | 0.194338987 | 2013 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 24553780 | 5243 | ABCB1 | umls:C0014544 | BeFree | All the case-control association researches evaluating the role of MDR1 C3435T polymorphism in childhood epilepsy to antiepileptic drugs were identified. | 0.194338987 | 2014 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 25223475 | 5243 | ABCB1 | umls:C0014544 | BeFree | The aim of our study was to investigate the relationship between C3435T polymorphism of the MDR1 gene and drug resistance in epilepsy with the consideration of 4 different criteria for qualification to groups sensitive and resistant to applied pharmacotherapy. | 0.194338987 | 2015 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 20605481 | 5243 | ABCB1 | umls:C0014544 | BeFree | ABCB1 C3435T polymorphism and the risk of resistance to antiepileptic drugs in epilepsy: a systematic review and meta-analysis. | 0.194338987 | 2010 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 25846690 | 5243 | ABCB1 | umls:C0014544 | BeFree | Association of ABCB1 C3435T polymorphism with phenobarbital resistance in Thai patients with epilepsy. | 0.194338987 | 2015 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 19178561 | 5243 | ABCB1 | umls:C0014544 | BeFree | We included all published studies until September 2007, in which patients with responsive and unresponsive seizure disorders underwent genotyping for ABCB1 C3435T. | 0.194338987 | 2009 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 15857428 | 5243 | ABCB1 | umls:C0014544 | BeFree | This study failed to corroborate a previously reported association between the C3435T polymorphism in the human MDR1 gene and pharmacoresistant epilepsy. | 0.194338987 | 2005 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 24300029 | 5243 | ABCB1 | umls:C0014544 | BeFree | Significance of MDR1 gene polymorphism C3435T in predicting drug response in epilepsy. | 0.194338987 | 2013 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 22239287 | 5243 | ABCB1 | umls:C0014544 | BeFree | Role of MDR1 C3435T and GABRG2 C588T gene polymorphisms in seizure occurrence and MDR1 effect on anti-epileptic drug (phenytoin) absorption. | 0.194338987 | 2012 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 17917461 | 5243 | ABCB1 | umls:C0014544 | BeFree | Association of MDR1 (C3435T) polymorphism and resistance to carbamazepine in epileptic patients from Turkey. | 0.194338987 | 2008 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 16542858 | 5243 | ABCB1 | umls:C0014544 | BeFree | Lack of association between C3435T nucleotide MDR1 genetic polymorphism and multidrug-resistant epilepsy. | 0.194338987 | 2006 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 23984379 | 5243 | ABCB1 | umls:C0014544 | BeFree | The study failed to corroborate association between polymorphism CYP3A5*3 and C3435T polymorphism in MDR1 gene and pharmacoresistant epilepsy. | 0.194338987 | 2013 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 23465586 | 5243 | ABCB1 | umls:C0014544 | BeFree | Multidrug resistance 1 (MDR1) 3435C/T genotyping in childhood drug-resistant epilepsy. | 0.194338987 | 2013 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 24794827 | 5243 | ABCB1 | umls:C0014544 | BeFree | Previous studies have attempted to confirm the association between the ABCB1-C3435T polymorphism and drug-resistant epilepsy and produced discordant findings. | 0.194338987 | 2014 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 22239287 | 2566 | GABRG2 | umls:C0014544 | BeFree | To assess the role of MDR1 and gamma-aminobutyric acid receptor-gamma 2 sub unit (GABRG2) gene polymorphism in seizure susceptibility in generalized seizure (GS) and febrile seizure (FS) patients and to evaluate MDR1 C3435T gene polymorphism's role in absorption of the anti-epileptic drug, phenytoin (PHT) in a cohort of patients. | 0.017806881 | 2012 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 25799371 | 5243 | ABCB1 | umls:C0014544 | BeFree | ABCB1 gene C3435T polymorphism and drug resistance in epilepsy: evidence based on 8,604 subjects. | 0.194338987 | 2015 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 19167193 | 5243 | ABCB1 | umls:C0014544 | 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. | 0.194338987 | 2009 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 17521963 | 5243 | ABCB1 | umls:C0014544 | BeFree | Association between ABCB1 C3435T polymorphism and drug-resistant epilepsy in Han Chinese. | 0.194338987 | 2007 | ABCB1 | 7 | 87509329 | A | T,G |
rs1045642 | 24953225 | 5243 | ABCB1 | umls:C0014544 | BeFree | The relationship established in a subset of the Chinese population between the MDR1 C3435T polymorphism and refractory epilepsy will guide epilepsy treatment and development of new AEDs. | 0.194338987 | 2014 | ABCB1 | 7 | 87509329 | A | T,G |
rs104894718 | 21994374 | 6324 | SCN1B | umls:C0014544 | BeFree | In contrast, two other SCN1B mutations associated with epilepsy, p.C121W and p.R85H, are expressed at the cell surface. | 0.01482102 | 2011 | SCN1B | 19 | 35033654 | C | G,T |
rs1128503 | 21079659 | 5243 | ABCB1 | umls:C0014544 | BeFree | Association between ABCB1-T1236C polymorphism and drug-resistant epilepsy in Iranian female patients. | 0.194338987 | 2010 | ABCB1 | 7 | 87550285 | A | G |
rs1130183 | 23965030 | 3766 | KCNJ10 | umls:C0014544 | BeFree | It was also observed that the variant, p.Arg271Cys in KCNJ10, previously thought to have a protective effect against seizure susceptibility, was found in a patient with Pendred syndrome with co-existing epilepsy. | 0.005624334 | 2013 | KCNJ10 | 1 | 160041722 | G | A |
rs113994049 | 18005052 | 8893 | EIF2B5 | umls:C0014544 | BeFree | Pregnancy was complicated by a non-convulsive epileptic status leading to the identification of compound heterozygous EIF2B5 mutation (p.Arg113His and p.Arg299His). | 0.000271442 | 2008 | EIF2B5 | 3 | 184137637 | G | A |
rs113994060 | 18005052 | 8893 | EIF2B5 | umls:C0014544 | BeFree | Pregnancy was complicated by a non-convulsive epileptic status leading to the identification of compound heterozygous EIF2B5 mutation (p.Arg113His and p.Arg299His). | 0.000271442 | 2008 | EIF2B5 | 3 | 184140470 | G | A |
rs113994095 | 21515089 | 5428 | POLG | umls:C0014544 | BeFree | Treatment of epilepsy in patients with a POLG1 compound heterozygous A467T/W748S genotype is very challenging; the epilepsy may preferentially respond to sodium channel blockers. | 0.122985861 | 2011 | POLG;MIR6766 | 15 | 89327201 | C | T |
rs113994097 | 21515089 | 5428 | POLG | umls:C0014544 | BeFree | Treatment of epilepsy in patients with a POLG1 compound heterozygous A467T/W748S genotype is very challenging; the epilepsy may preferentially respond to sodium channel blockers. | 0.122985861 | 2011 | POLG | 15 | 89323426 | C | G |
rs115716690 | 20022885 | 3767 | KCNJ11 | umls:C0014544 | BeFree | We report two novel mutations on the same haplotype (cis), F60Y and V64L, in the slide helix of Kir6.2 in a patient with neonatal diabetes, developmental delay and epilepsy. | 0.010344586 | 2010 | KCNJ11 | 11 | 17387902 | C | A |
rs118192207 | 18246739 | 3785 | KCNQ2 | umls:C0014544 | BeFree | The absence of the mutation both in the healthy members of the family and in a control group, and the lack of any other change in the KCNQ2 gene of the patients indicate that N258S substitution is a pathogenic mutation leading to epileptic seizures in this family. | 0.140030617 | 2007 | KCNQ2 | 20 | 63442449 | T | C |
rs118192249 | 18425618 | 3786 | KCNQ3 | umls:C0014544 | BeFree | Altered KCNQ3 potassium channel function caused by the W309R pore-helix mutation found in human epilepsy. | 0.008967513 | 2008 | KCNQ3 | 8 | 132175461 | A | G |
rs11890028 | 22949513 | 6323 | SCN1A | umls:C0014544 | BeFree | Suggestive evidence for an association with GGEs was found in the region 2q24.3 (rs11890028, P(meta) = 4.0 × 10(-6)) nearby the SCN1A gene, which is currently the gene with the largest number of known epilepsy-related mutations. | 0.323466984 | 2012 | SCN1A;LOC101929680 | 2 | 166086767 | T | G |
rs119488099 | 21504429 | 9211 | LGI1 | umls:C0014544 | BeFree | We found two pathogenic LGI1 mutations with uncommonly low penetrance: the R136W mutation, previously detected in a sporadic case with telephone-induced partial seizures, gave rise to the epileptic phenotype in three of nine mutation carriers in one family; the novel C179R mutation caused epilepsy in an isolated patient from a family where the mutation segregated. | 0.015687547 | 2011 | LGI1;LOC105378437 | 10 | 93777592 | C | T |
rs12059546 | 22949513 | 1131 | CHRM3 | umls:C0014544 | GWASCAT | Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. | 0.120271442 | 2012 | CHRM3 | 1 | 239806797 | A | G |
rs121434610 | 18550699 | 6611 | SMS | umls:C0014544 | BeFree | This missense mutation, p.G56S, greatly reduces SMS activity and leads to severe epilepsy and cognitive impairment. | 0.000271442 | 2008 | SMS | X | 21967312 | G | A |
rs121909674 | 26005849 | 2566 | GABRG2 | umls:C0014544 | BeFree | The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration. | 0.017806881 | 2015 | GABRG2 | 5 | 162153132 | C | T |
rs121918622 | 21156207 | 6334 | SCN8A | umls:C0014544 | BeFree | Our results demonstrate that variants in Scn2a, Kcnq2, and Scn8a can dramatically influence the phenotype of mice carrying the Scn1a-R1648H mutation and suggest that ion channel variants may contribute to the clinical variation seen in patients with monogenic epilepsy. | 0.124071628 | 2011 | SCN1A;LOC102724058 | 2 | 165992332 | C | T,A |
rs121918622 | 21156207 | 3785 | KCNQ2 | umls:C0014544 | BeFree | Our results demonstrate that variants in Scn2a, Kcnq2, and Scn8a can dramatically influence the phenotype of mice carrying the Scn1a-R1648H mutation and suggest that ion channel variants may contribute to the clinical variation seen in patients with monogenic epilepsy. | 0.140030617 | 2011 | SCN1A;LOC102724058 | 2 | 165992332 | C | T,A |
rs121918622 | 25378155 | 6323 | SCN1A | umls:C0014544 | BeFree | Here, we present a multisystem analysis of an SCN1A mouse model carrying the NaV1.1-R1648H mutation, which causes febrile seizures and epilepsy in humans. | 0.323466984 | 2015 | SCN1A;LOC102724058 | 2 | 165992332 | C | T,A |
rs121918622 | 21156207 | 6323 | SCN1A | umls:C0014544 | BeFree | Our results demonstrate that variants in Scn2a, Kcnq2, and Scn8a can dramatically influence the phenotype of mice carrying the Scn1a-R1648H mutation and suggest that ion channel variants may contribute to the clinical variation seen in patients with monogenic epilepsy. | 0.323466984 | 2011 | SCN1A;LOC102724058 | 2 | 165992332 | C | T,A |
rs121918628 | 16054936 | 6323 | SCN1A | umls:C0014544 | BeFree | Sequencing of candidate genes in this region revealed a heterozygous missense mutation (Gln1489Lys) in the neuronal voltage-gated sodium channel gene SCN1A, mutations of which have been associated with epilepsy. | 0.323466984 | 2005 | SCN1A;LOC102724058 | 2 | 165998049 | G | T |
rs121918799 | 23398611 | 6323 | SCN1A | umls:C0014544 | BeFree | To report the identification of the T1174S SCN1A (NaV 1.1) mutation in a three-generation family with both epileptic and familial hemiplegic migraine (FHM) phenotypes and clarify the pathomechanism. | 0.323466984 | 2013 | SCN1A;LOC102724058 | 2 | 166015636 | G | C |
rs122460159 | 17993579 | 6792 | CDKL5 | umls:C0014544 | BeFree | We screened the entire coding region of CDKL5 in 151 affected girls with a clinically heterogeneous phenotype ranging from encephalopathy with epilepsy to atypical Rett syndrome by denaturing high liquid performance chromatography and direct sequencing, and we identified three novel missense mutations located in catalytic domain (p.Ala40Val, p.Arg65Gln, p.Leu220Pro). | 0.02005048 | 2008 | CDKL5 | X | 18564496 | C | T |
rs12912233 | 25668517 | 6323 | SCN1A | umls:C0014544 | BeFree | RORA gene rs12912233 and rs880626 polymorphisms and their interaction with SCN1A rs3812718 in the risk of epilepsy: a case-control study in Malaysia. | 0.323466984 | 2015 | RORA | 15 | 60974897 | C | T |
rs12912233 | 25668517 | 6095 | RORA | umls:C0014544 | BeFree | RORA gene rs12912233 and rs880626 polymorphisms and their interaction with SCN1A rs3812718 in the risk of epilepsy: a case-control study in Malaysia. | 0.000271442 | 2015 | RORA | 15 | 60974897 | C | T |
rs12987787 | 25087078 | 6323 | SCN1A | umls:C0014544 | GWASCAT | Meta-analysis of the all-epilepsy cohort identified loci at 2q24.3 (p=8·71 × 10(-10)), implicating SCN1A, and at 4p15.1 (p=5·44 × 10(-9)), harbouring PCDH7, which encodes a protocadherin molecule not previously implicated in epilepsy. | 0.323466984 | 2014 | SCN1A;LOC102724058 | 2 | 166001881 | T | C |
rs12987787 | 25087078 | 102724058 | LOC102724058 | umls:C0014544 | GWASCAT | Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies. | 0.12 | 2014 | SCN1A;LOC102724058 | 2 | 166001881 | T | C |
rs13026414 | 22949513 | 101927235 | LOC101927235 | umls:C0014544 | GWASCAT | Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. | 0.12 | 2012 | LOC101927235;LOC105377629;LOC105377630;LOC105377632 | 2 | 57706920 | C | T |
rs149055334 | 25489633 | 114327 | EFHC1 | umls:C0014544 | BeFree | Public databases also show that the EFHC1 P77T-R221H JME haplotype is present in unphenotyped West African ancestry populations, and we show that it can be found at appreciable frequency in healthy individuals with no family history of epilepsy. | 0.004895885 | 2014 | EFHC1 | 6 | 52424111 | C | A |
rs1611115 | 22881836 | 1621 | DBH | umls:C0014544 | BeFree | Stage 1 analysis included 290 patients with epilepsy and revealed a higher load of adverse psychotropic side effects of LEV in patients carrying genetic variants associated with decreased dopaminergic activity: rs1611115 (dopamine-β-hydroxylase, DBH), rs4680 (catechol-O-methyltransferase, COMT), and rs1800497 (dopamine receptor D2-associated ANKK1 TAQ-1A). | 0.000271442 | 2013 | DBH | 9 | 133635393 | T | C |
rs1611115 | 22881836 | 1312 | COMT | umls:C0014544 | BeFree | Stage 1 analysis included 290 patients with epilepsy and revealed a higher load of adverse psychotropic side effects of LEV in patients carrying genetic variants associated with decreased dopaminergic activity: rs1611115 (dopamine-β-hydroxylase, DBH), rs4680 (catechol-O-methyltransferase, COMT), and rs1800497 (dopamine receptor D2-associated ANKK1 TAQ-1A). | 0.000271442 | 2013 | DBH | 9 | 133635393 | T | C |
rs16944 | 22578659 | 3569 | IL6 | umls:C0014544 | BeFree | To understand the role of genes encoding pro-inflammatory cytokines in epilepsy, this study aimed to evaluate the polymorphisms of the promoter regions of IL-1β-511C>T (rs16944), TNF-α-308G>A (rs1800629) and IL-6-174G>C (rs1800795) genes and to look into the interaction between these genes in influencing seizure susceptibility, seizure frequency and response to therapy. | 0.001357209 | 2012 | IL1B | 2 | 112837290 | A | G |
rs16944 | 22578659 | 3553 | IL1B | umls:C0014544 | BeFree | To understand the role of genes encoding pro-inflammatory cytokines in epilepsy, this study aimed to evaluate the polymorphisms of the promoter regions of IL-1β-511C>T (rs16944), TNF-α-308G>A (rs1800629) and IL-6-174G>C (rs1800795) genes and to look into the interaction between these genes in influencing seizure susceptibility, seizure frequency and response to therapy. | 0.002442977 | 2012 | IL1B | 2 | 112837290 | A | G |
rs16969925 | 21994374 | 6324 | SCN1B | umls:C0014544 | BeFree | In contrast, two other SCN1B mutations associated with epilepsy, p.C121W and p.R85H, are expressed at the cell surface. | 0.01482102 | 2011 | SCN1B | 19 | 35033545 | G | A |
rs1800497 | 22881836 | 1621 | DBH | umls:C0014544 | BeFree | Stage 1 analysis included 290 patients with epilepsy and revealed a higher load of adverse psychotropic side effects of LEV in patients carrying genetic variants associated with decreased dopaminergic activity: rs1611115 (dopamine-β-hydroxylase, DBH), rs4680 (catechol-O-methyltransferase, COMT), and rs1800497 (dopamine receptor D2-associated ANKK1 TAQ-1A). | 0.000271442 | 2013 | ANKK1 | 11 | 113400106 | G | A |
rs1800497 | 22881836 | 1312 | COMT | umls:C0014544 | BeFree | Stage 1 analysis included 290 patients with epilepsy and revealed a higher load of adverse psychotropic side effects of LEV in patients carrying genetic variants associated with decreased dopaminergic activity: rs1611115 (dopamine-β-hydroxylase, DBH), rs4680 (catechol-O-methyltransferase, COMT), and rs1800497 (dopamine receptor D2-associated ANKK1 TAQ-1A). | 0.000271442 | 2013 | ANKK1 | 11 | 113400106 | G | A |
rs1800629 | 22578659 | 3553 | IL1B | umls:C0014544 | BeFree | To understand the role of genes encoding pro-inflammatory cytokines in epilepsy, this study aimed to evaluate the polymorphisms of the promoter regions of IL-1β-511C>T (rs16944), TNF-α-308G>A (rs1800629) and IL-6-174G>C (rs1800795) genes and to look into the interaction between these genes in influencing seizure susceptibility, seizure frequency and response to therapy. | 0.002442977 | 2012 | TNF | 6 | 31575254 | G | A |
rs1800629 | 22578659 | 3569 | IL6 | umls:C0014544 | BeFree | To understand the role of genes encoding pro-inflammatory cytokines in epilepsy, this study aimed to evaluate the polymorphisms of the promoter regions of IL-1β-511C>T (rs16944), TNF-α-308G>A (rs1800629) and IL-6-174G>C (rs1800795) genes and to look into the interaction between these genes in influencing seizure susceptibility, seizure frequency and response to therapy. | 0.001357209 | 2012 | TNF | 6 | 31575254 | G | A |
rs1800795 | 22578659 | 3553 | IL1B | umls:C0014544 | BeFree | To understand the role of genes encoding pro-inflammatory cytokines in epilepsy, this study aimed to evaluate the polymorphisms of the promoter regions of IL-1β-511C>T (rs16944), TNF-α-308G>A (rs1800629) and IL-6-174G>C (rs1800795) genes and to look into the interaction between these genes in influencing seizure susceptibility, seizure frequency and response to therapy. | 0.002442977 | 2012 | IL6;LOC541472 | 7 | 22727026 | C | G |
rs1800795 | 22578659 | 3569 | IL6 | umls:C0014544 | BeFree | To understand the role of genes encoding pro-inflammatory cytokines in epilepsy, this study aimed to evaluate the polymorphisms of the promoter regions of IL-1β-511C>T (rs16944), TNF-α-308G>A (rs1800629) and IL-6-174G>C (rs1800795) genes and to look into the interaction between these genes in influencing seizure susceptibility, seizure frequency and response to therapy. | 0.001357209 | 2012 | IL6;LOC541472 | 7 | 22727026 | C | G |
rs1801545 | 18625963 | 3785 | KCNQ2 | umls:C0014544 | BeFree | In KCNQ2, a silent single nucleotide polymorphism (rs1801545) was found overrepresented in both epilepsy samples (IGE, p = 0.004). | 0.140030617 | 2008 | KCNQ2 | 20 | 63414925 | G | C,A |
rs1805087 | 21543238 | 4548 | MTR | umls:C0014544 | BeFree | The purpose of the study was to determine the frequency of occurrence of polymorphisms of genes MTHFR (C677T), MTR (A2756G), and MTHFD1 (G1958A), as well as to analyze the concentration of homocysteine (Hcy), methionine (Met), asymmetric dimethylarginine (ADMA), and arginine (Arg) in epileptics treatment with antiepileptic drugs (AEDs), and controls. | 0.002909916 | 2011 | MTR | 1 | 236885200 | A | G |
rs1805087 | 21543238 | 4524 | MTHFR | umls:C0014544 | BeFree | The purpose of the study was to determine the frequency of occurrence of polymorphisms of genes MTHFR (C677T), MTR (A2756G), and MTHFD1 (G1958A), as well as to analyze the concentration of homocysteine (Hcy), methionine (Met), asymmetric dimethylarginine (ADMA), and arginine (Arg) in epileptics treatment with antiepileptic drugs (AEDs), and controls. | 0.022636753 | 2011 | MTR | 1 | 236885200 | A | G |
rs1939012 | 25087078 | 4317 | MMP8 | umls:C0014544 | GWASCAT | Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies. | 0.12 | 2014 | MMP8 | 11 | 102724404 | T | C |
rs193929358 | 17259376 | 3767 | KCNJ11 | umls:C0014544 | BeFree | Here we describe a patient with severe PNDM, which includes developmental delay and epilepsy, in addition to neonatal diabetes (developmental delay, epilepsy, and neonatal diabetes [DEND]), due to a G334D mutation in the Kir6.2 subunit of K(ATP) channel. | 0.010344586 | 2007 | KCNJ11 | 11 | 17387091 | C | T |
rs2032582 | 24213830 | 5243 | ABCB1 | umls:C0014544 | BeFree | The drug-transporter gene MDR1 C3435T and G2677T/A polymorphisms and the risk of multidrug-resistant epilepsy in Turkish children. | 0.194338987 | 2013 | ABCB1 | 7 | 87531302 | A | T,C |
rs2071197 | 24384557 | 8856 | NR1I2 | umls:C0014544 | BeFree | The common polymorphisms of nuclear receptors--a tentative pregnane X receptor (PXR)*1B, hepatocyte nuclear factor 4α (HNF4α) rs2071197 (c.115+308G>A), and cytochrome P450 3A5*3 polymorphisms--were genotyped in 168 Japanese patients with epilepsy. | 0.003181358 | 2014 | HNF4A | 20 | 44401795 | G | A |
rs2071197 | 24384557 | 1577 | CYP3A5 | umls:C0014544 | BeFree | The common polymorphisms of nuclear receptors--a tentative pregnane X receptor (PXR)*1B, hepatocyte nuclear factor 4α (HNF4α) rs2071197 (c.115+308G>A), and cytochrome P450 3A5*3 polymorphisms--were genotyped in 168 Japanese patients with epilepsy. | 0.002909916 | 2014 | HNF4A | 20 | 44401795 | G | A |
rs2071197 | 24384557 | 3172 | HNF4A | umls:C0014544 | BeFree | The common polymorphisms of nuclear receptors--a tentative pregnane X receptor (PXR)*1B, hepatocyte nuclear factor 4α (HNF4α) rs2071197 (c.115+308G>A), and cytochrome P450 3A5*3 polymorphisms--were genotyped in 168 Japanese patients with epilepsy. | 0.000271442 | 2014 | HNF4A | 20 | 44401795 | G | A |
rs211037 | 22239287 | 5243 | ABCB1 | umls:C0014544 | BeFree | Role of MDR1 C3435T and GABRG2 C588T gene polymorphisms in seizure occurrence and MDR1 effect on anti-epileptic drug (phenytoin) absorption. | 0.194338987 | 2012 | GABRG2 | 5 | 162101274 | C | T |
rs211037 | 24061200 | 2554 | GABRA1 | umls:C0014544 | BeFree | We investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subtype genes namely; rs2279020 (GABRA1), rs3219151 (GABRA6), rs2229944 (GABRB2), and rs211037 (GABRG2) with predisposition to epilepsy and AED resistance. | 0.004810009 | 2014 | GABRG2 | 5 | 162101274 | C | T |
rs211037 | 24061200 | 2559 | GABRA6 | umls:C0014544 | BeFree | We investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subtype genes namely; rs2279020 (GABRA1), rs3219151 (GABRA6), rs2229944 (GABRB2), and rs211037 (GABRG2) with predisposition to epilepsy and AED resistance. | 0.000542884 | 2014 | GABRG2 | 5 | 162101274 | C | T |
rs211037 | 23140995 | 2566 | GABRG2 | umls:C0014544 | BeFree | GABRG2 rs211037 polymorphism and epilepsy: a systematic review and meta-analysis. | 0.017806881 | 2013 | GABRG2 | 5 | 162101274 | C | T |
rs211037 | 24061200 | 2566 | GABRG2 | umls:C0014544 | BeFree | GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures. | 0.017806881 | 2014 | GABRG2 | 5 | 162101274 | C | T |
rs211037 | 24061200 | 2561 | GABRB2 | umls:C0014544 | BeFree | We investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subtype genes namely; rs2279020 (GABRA1), rs3219151 (GABRA6), rs2229944 (GABRB2), and rs211037 (GABRG2) with predisposition to epilepsy and AED resistance. | 0.000814326 | 2014 | GABRG2 | 5 | 162101274 | C | T |
rs2229944 | 24061200 | 2554 | GABRA1 | umls:C0014544 | BeFree | We investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subtype genes namely; rs2279020 (GABRA1), rs3219151 (GABRA6), rs2229944 (GABRB2), and rs211037 (GABRG2) with predisposition to epilepsy and AED resistance. | 0.004810009 | 2014 | GABRB2 | 5 | 161294312 | G | A |
rs2229944 | 24061200 | 2561 | GABRB2 | umls:C0014544 | BeFree | We investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subtype genes namely; rs2279020 (GABRA1), rs3219151 (GABRA6), rs2229944 (GABRB2), and rs211037 (GABRG2) with predisposition to epilepsy and AED resistance. | 0.000814326 | 2014 | GABRB2 | 5 | 161294312 | G | A |
rs2229944 | 24061200 | 2559 | GABRA6 | umls:C0014544 | BeFree | We investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subtype genes namely; rs2279020 (GABRA1), rs3219151 (GABRA6), rs2229944 (GABRB2), and rs211037 (GABRG2) with predisposition to epilepsy and AED resistance. | 0.000542884 | 2014 | GABRB2 | 5 | 161294312 | G | A |
rs2273697 | 25847339 | 1244 | ABCC2 | umls:C0014544 | BeFree | The recessive model of MRP2 G1249A polymorphism decrease the risk of drug-resistant in Asian Epilepsy: a systematic review and meta-analysis. | 0.009348576 | 2015 | ABCC2 | 10 | 99804058 | G | A |
rs2273697 | 24624913 | 1244 | ABCC2 | umls:C0014544 | BeFree | ABCC2 rs2273697 and rs3740066 polymorphisms and resistance to antiepileptic drugs in Asia Pacific epilepsy cohorts. | 0.009348576 | 2015 | ABCC2 | 10 | 99804058 | G | A |
rs2279020 | 24061200 | 2559 | GABRA6 | umls:C0014544 | BeFree | We investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subtype genes namely; rs2279020 (GABRA1), rs3219151 (GABRA6), rs2229944 (GABRB2), and rs211037 (GABRG2) with predisposition to epilepsy and AED resistance. | 0.000542884 | 2014 | GABRA1 | 5 | 161895883 | G | A |
rs2279020 | 24061200 | 2554 | GABRA1 | umls:C0014544 | BeFree | We investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subtype genes namely; rs2279020 (GABRA1), rs3219151 (GABRA6), rs2229944 (GABRB2), and rs211037 (GABRG2) with predisposition to epilepsy and AED resistance. | 0.004810009 | 2014 | GABRA1 | 5 | 161895883 | G | A |
rs2279020 | 24061200 | 2561 | GABRB2 | umls:C0014544 | BeFree | We investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subtype genes namely; rs2279020 (GABRA1), rs3219151 (GABRA6), rs2229944 (GABRB2), and rs211037 (GABRG2) with predisposition to epilepsy and AED resistance. | 0.000814326 | 2014 | GABRA1 | 5 | 161895883 | G | A |
rs2292096 | 22116939 | 23271 | CAMSAP2 | umls:C0014544 | GAD | [Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese.] | 0.122909916 | 2012 | CAMSAP2 | 1 | 200857641 | A | G |
rs2292096 | 22116939 | 23271 | CAMSAP2 | umls:C0014544 | GWASCAT | Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese. | 0.122909916 | 2012 | CAMSAP2 | 1 | 200857641 | A | G |
rs2304016 | 18784617 | 6326 | SCN2A | umls:C0014544 | GAD | [Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: correlation among phenotype, genotype, and mRNA expression.] | 0.143688845 | 2008 | SCN2A | 2 | 165311993 | A | G |
rs267608436 | 17993579 | 6792 | CDKL5 | umls:C0014544 | BeFree | We screened the entire coding region of CDKL5 in 151 affected girls with a clinically heterogeneous phenotype ranging from encephalopathy with epilepsy to atypical Rett syndrome by denaturing high liquid performance chromatography and direct sequencing, and we identified three novel missense mutations located in catalytic domain (p.Ala40Val, p.Arg65Gln, p.Leu220Pro). | 0.02005048 | 2008 | CDKL5 | X | 18575402 | G | A |
rs267608511 | 17993579 | 6792 | CDKL5 | umls:C0014544 | BeFree | We screened the entire coding region of CDKL5 in 151 affected girls with a clinically heterogeneous phenotype ranging from encephalopathy with epilepsy to atypical Rett syndrome by denaturing high liquid performance chromatography and direct sequencing, and we identified three novel missense mutations located in catalytic domain (p.Ala40Val, p.Arg65Gln, p.Leu220Pro). | 0.02005048 | 2008 | CDKL5 | X | 18588058 | T | C |
rs267608665 | 19428276 | 6792 | CDKL5 | umls:C0014544 | BeFree | A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder. | 0.02005048 | 2010 | RS1;CDKL5 | X | 18650520 | C | T |
rs281865071 | 15964197 | 1141 | CHRNB2 | umls:C0014544 | BeFree | The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits. | 0.001085767 | 2005 | CHRNB2 | 1 | 154571759 | C | G |
rs28934906 | 20231667 | 4204 | MECP2 | umls:C0014544 | BeFree | MECP2 mutations most frequently associated with epilepsy were T158M (74%) and R106W (78%), and less frequently R255X and R306C (both 49%). | 0.014168516 | 2010 | MECP2 | X | 154031355 | G | A |
rs28934907 | 20231667 | 4204 | MECP2 | umls:C0014544 | BeFree | MECP2 mutations most frequently associated with epilepsy were T158M (74%) and R106W (78%), and less frequently R255X and R306C (both 49%). | 0.014168516 | 2010 | MECP2 | X | 154032268 | G | C,A |
rs28935468 | 20231667 | 4204 | MECP2 | umls:C0014544 | BeFree | MECP2 mutations most frequently associated with epilepsy were T158M (74%) and R106W (78%), and less frequently R255X and R306C (both 49%). | 0.014168516 | 2010 | MECP2 | X | 154030912 | G | A |
rs2920502 | 25595263 | 6854 | SYN2 | umls:C0014544 | BeFree | Evidence has shown linkage disequilibrium between rs3755724 (-55C/T) of this gene with synapsin 2 (SYN2) rs3773364 and peroxisome proliferator-activated G receptor (PPARG) rs2920502 loci, which contribute to epilepsy in Caucasians. | 0.003181358 | 2014 | PPARG | 3 | 12287696 | G | C |
rs3219151 | 24061200 | 2561 | GABRB2 | umls:C0014544 | BeFree | We investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subtype genes namely; rs2279020 (GABRA1), rs3219151 (GABRA6), rs2229944 (GABRB2), and rs211037 (GABRG2) with predisposition to epilepsy and AED resistance. | 0.000814326 | 2014 | GABRA6 | 5 | 161701908 | C | T |
rs3219151 | 24061200 | 2559 | GABRA6 | umls:C0014544 | BeFree | We investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subtype genes namely; rs2279020 (GABRA1), rs3219151 (GABRA6), rs2229944 (GABRB2), and rs211037 (GABRG2) with predisposition to epilepsy and AED resistance. | 0.000542884 | 2014 | GABRA6 | 5 | 161701908 | C | T |
rs3219151 | 24061200 | 2554 | GABRA1 | umls:C0014544 | BeFree | We investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subtype genes namely; rs2279020 (GABRA1), rs3219151 (GABRA6), rs2229944 (GABRB2), and rs211037 (GABRG2) with predisposition to epilepsy and AED resistance. | 0.004810009 | 2014 | GABRA6 | 5 | 161701908 | C | T |
rs3740066 | 24624913 | 1244 | ABCC2 | umls:C0014544 | BeFree | ABCC2 rs2273697 and rs3740066 polymorphisms and resistance to antiepileptic drugs in Asia Pacific epilepsy cohorts. | 0.009348576 | 2015 | ABCC2 | 10 | 99844450 | C | T,G |
rs3755724 | 25595263 | 6854 | SYN2 | umls:C0014544 | BeFree | Evidence has shown linkage disequilibrium between rs3755724 (-55C/T) of this gene with synapsin 2 (SYN2) rs3773364 and peroxisome proliferator-activated G receptor (PPARG) rs2920502 loci, which contribute to epilepsy in Caucasians. | 0.003181358 | 2014 | SYN2;TIMP4 | 3 | 12159406 | C | T |
rs3773364 | 25595263 | 6854 | SYN2 | umls:C0014544 | BeFree | Evidence has shown linkage disequilibrium between rs3755724 (-55C/T) of this gene with synapsin 2 (SYN2) rs3773364 and peroxisome proliferator-activated G receptor (PPARG) rs2920502 loci, which contribute to epilepsy in Caucasians. | 0.003181358 | 2014 | SYN2 | 3 | 12148468 | A | G |
rs3812718 | 24076350 | 6323 | SCN1A | umls:C0014544 | BeFree | SCN1A rs3812718 polymorphism and susceptibility to epilepsy with febrile seizures: a meta-analysis. | 0.323466984 | 2013 | SCN1A | 2 | 166053034 | C | T |
rs3812718 | 25668517 | 6323 | SCN1A | umls:C0014544 | BeFree | RORA gene rs12912233 and rs880626 polymorphisms and their interaction with SCN1A rs3812718 in the risk of epilepsy: a case-control study in Malaysia. | 0.323466984 | 2015 | SCN1A | 2 | 166053034 | C | T |
rs3812718 | 25668517 | 6095 | RORA | umls:C0014544 | BeFree | RORA gene rs12912233 and rs880626 polymorphisms and their interaction with SCN1A rs3812718 in the risk of epilepsy: a case-control study in Malaysia. | 0.000271442 | 2015 | SCN1A | 2 | 166053034 | C | T |
rs3815823 | 23751308 | 9961 | MVP | umls:C0014544 | BeFree | We conclude that rs4788187, rs3815824, rs3815823 variants of the MVP gene are associated neither with predisposition for epilepsy nor with AED-resistance in the population that we have studied. | 0.000542884 | 2013 | MVP | 16 | 29847228 | G | A |
rs3815824 | 23751308 | 9961 | MVP | umls:C0014544 | BeFree | We conclude that rs4788187, rs3815824, rs3815823 variants of the MVP gene are associated neither with predisposition for epilepsy nor with AED-resistance in the population that we have studied. | 0.000542884 | 2013 | MVP | 16 | 29841539 | C | T |
rs386596107 | 22119635 | 6648 | SOD2 | umls:C0014544 | BeFree | The association between the superoxide dismutase 2 (SOD2) Val16Ala polymorphism and the serum aminotransferase levels was retrospectively investigated in 207 valproic acid-treated patients with epilepsy. | 0.000542884 | 2012 | NA | NA | NA | NA | NA |
rs386596107 | 25372290 | 6648 | SOD2 | umls:C0014544 | BeFree | Our results showed that the SOD2 Val16Ala polymorphism has an impact on the relationship between VPA exposure and γ-GT elevation in patients with epilepsy. | 0.000542884 | 2014 | NA | NA | NA | NA | NA |
rs386602118 | 21890420 | 627 | BDNF | umls:C0014544 | BeFree | The Val66Met polymorphism in the BDNF gene may be involved in the alteration of normal secretion of the mature peptide and may modulate the epileptic phenotype observed in some patients with FXS. | 0.13062984 | 2011 | NA | NA | NA | NA | NA |
rs386833981 | 17607606 | 1203 | CLN5 | umls:C0014544 | BeFree | We report two sibs harbouring a novel mutation (p.Tyr258Asp) in the CLN5 gene and displaying behaviour disturbances and mental deterioration, rather than epilepsy, as the dominant disease manifestation at onset. | 0.000542884 | 2007 | CLN5 | 13 | 77000517 | T | G |
rs387906783 | 20022885 | 3767 | KCNJ11 | umls:C0014544 | BeFree | We report two novel mutations on the same haplotype (cis), F60Y and V64L, in the slide helix of Kir6.2 in a patient with neonatal diabetes, developmental delay and epilepsy. | 0.010344586 | 2010 | KCNJ11 | 11 | 17387913 | A | T |
rs397507444 | 15970629 | 4524 | MTHFR | umls:C0014544 | BeFree | Screening for C677T and A1298C MTHFR polymorphisms in patients with epilepsy and risk of hyperhomocysteinemia. | 0.022636753 | 2004 | MTHFR | 1 | 11794407 | T | G |
rs397507444 | 24183735 | 4524 | MTHFR | umls:C0014544 | BeFree | The role of C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase gene (MTHFR) on the increase of plasma tHcy in patients with epilepsy taking AEDs is still controversial. | 0.022636753 | 2013 | MTHFR | 1 | 11794407 | T | G |
rs39861 | 22949513 | 375449 | MAST4 | umls:C0014544 | GWASCAT | Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. | 0.12 | 2012 | MAST4 | 5 | 66856430 | A | G |
rs4680 | 22881836 | 1621 | DBH | umls:C0014544 | BeFree | Stage 1 analysis included 290 patients with epilepsy and revealed a higher load of adverse psychotropic side effects of LEV in patients carrying genetic variants associated with decreased dopaminergic activity: rs1611115 (dopamine-β-hydroxylase, DBH), rs4680 (catechol-O-methyltransferase, COMT), and rs1800497 (dopamine receptor D2-associated ANKK1 TAQ-1A). | 0.000271442 | 2013 | COMT;MIR4761 | 22 | 19963748 | G | A |
rs4680 | 22881836 | 1312 | COMT | umls:C0014544 | BeFree | Stage 1 analysis included 290 patients with epilepsy and revealed a higher load of adverse psychotropic side effects of LEV in patients carrying genetic variants associated with decreased dopaminergic activity: rs1611115 (dopamine-β-hydroxylase, DBH), rs4680 (catechol-O-methyltransferase, COMT), and rs1800497 (dopamine receptor D2-associated ANKK1 TAQ-1A). | 0.000271442 | 2013 | COMT;MIR4761 | 22 | 19963748 | G | A |
rs4788187 | 23751308 | 9961 | MVP | umls:C0014544 | BeFree | We conclude that rs4788187, rs3815824, rs3815823 variants of the MVP gene are associated neither with predisposition for epilepsy nor with AED-resistance in the population that we have studied. | 0.000542884 | 2013 | MVP | 16 | 29834364 | T | C |
rs4828696 | 24236484 | 2555 | GABRA2 | umls:C0014544 | BeFree | Further multivariate logistic regression and multifactor dimensionality reduction analyses of interactions between these genes showed that under adjustment of clinical factors, the epilepsy treatment outcomes were significantly associated with the genotype combinations of GABRA1 rs6883877, GABRA2 rs511310 and GABRA3 rs4828696 (p < 0.0001; adjusted r(2) = 0.149). | 0.000271442 | 2014 | GABRA3 | X | 152413524 | T | C |
rs4828696 | 24236484 | 2554 | GABRA1 | umls:C0014544 | BeFree | Further multivariate logistic regression and multifactor dimensionality reduction analyses of interactions between these genes showed that under adjustment of clinical factors, the epilepsy treatment outcomes were significantly associated with the genotype combinations of GABRA1 rs6883877, GABRA2 rs511310 and GABRA3 rs4828696 (p < 0.0001; adjusted r(2) = 0.149). | 0.004810009 | 2014 | GABRA3 | X | 152413524 | T | C |
rs4828696 | 24236484 | 2556 | GABRA3 | umls:C0014544 | BeFree | Further multivariate logistic regression and multifactor dimensionality reduction analyses of interactions between these genes showed that under adjustment of clinical factors, the epilepsy treatment outcomes were significantly associated with the genotype combinations of GABRA1 rs6883877, GABRA2 rs511310 and GABRA3 rs4828696 (p < 0.0001; adjusted r(2) = 0.149). | 0.000271442 | 2014 | GABRA3 | X | 152413524 | T | C |
rs4880 | 22119635 | 6648 | SOD2 | umls:C0014544 | BeFree | The association between the superoxide dismutase 2 (SOD2) Val16Ala polymorphism and the serum aminotransferase levels was retrospectively investigated in 207 valproic acid-treated patients with epilepsy. | 0.000542884 | 2012 | SOD2 | 6 | 159692840 | A | G |
rs4880 | 25372290 | 6648 | SOD2 | umls:C0014544 | BeFree | Our results showed that the SOD2 Val16Ala polymorphism has an impact on the relationship between VPA exposure and γ-GT elevation in patients with epilepsy. | 0.000542884 | 2014 | SOD2 | 6 | 159692840 | A | G |
rs4986790 | 20807077 | 7099 | TLR4 | umls:C0014544 | BeFree | A total of 140 patients with NCC (82 symptomatic [ie, with active epilepsy] and 58 asymptomatic) and 150 healthy control subjects were examined for TLR4 Asp299Gly and Thr399Ile polymorphisms by means of polymerase chain reaction and restriction fragment-length polymorphism. | 0.003181358 | 2010 | TLR4 | 9 | 117713024 | A | G |
rs4986791 | 20807077 | 7099 | TLR4 | umls:C0014544 | BeFree | A total of 140 patients with NCC (82 symptomatic [ie, with active epilepsy] and 58 asymptomatic) and 150 healthy control subjects were examined for TLR4 Asp299Gly and Thr399Ile polymorphisms by means of polymerase chain reaction and restriction fragment-length polymorphism. | 0.003181358 | 2010 | TLR4 | 9 | 117713324 | C | T |
rs511310 | 24236484 | 2554 | GABRA1 | umls:C0014544 | BeFree | Further multivariate logistic regression and multifactor dimensionality reduction analyses of interactions between these genes showed that under adjustment of clinical factors, the epilepsy treatment outcomes were significantly associated with the genotype combinations of GABRA1 rs6883877, GABRA2 rs511310 and GABRA3 rs4828696 (p < 0.0001; adjusted r(2) = 0.149). | 0.004810009 | 2014 | NA | 4 | 46237987 | A | G |
rs511310 | 24236484 | 2555 | GABRA2 | umls:C0014544 | BeFree | Further multivariate logistic regression and multifactor dimensionality reduction analyses of interactions between these genes showed that under adjustment of clinical factors, the epilepsy treatment outcomes were significantly associated with the genotype combinations of GABRA1 rs6883877, GABRA2 rs511310 and GABRA3 rs4828696 (p < 0.0001; adjusted r(2) = 0.149). | 0.000271442 | 2014 | NA | 4 | 46237987 | A | G |
rs511310 | 24236484 | 2556 | GABRA3 | umls:C0014544 | BeFree | Further multivariate logistic regression and multifactor dimensionality reduction analyses of interactions between these genes showed that under adjustment of clinical factors, the epilepsy treatment outcomes were significantly associated with the genotype combinations of GABRA1 rs6883877, GABRA2 rs511310 and GABRA3 rs4828696 (p < 0.0001; adjusted r(2) = 0.149). | 0.000271442 | 2014 | NA | 4 | 46237987 | A | G |
rs59007384 | 24786335 | 10452 | TOMM40 | umls:C0014544 | BeFree | Compared with children carrying the GG allele, children with genotype GT or TT in a specific genetic variation (rs59007384 located in the nearby TOMM40 gene) had excess risk for worse fine motor function (Odds ratio (OR): 1.82; 95% Confidence interval (CI): 1.10-2.99; p = 0.019) and epilepsy (OR: 2.32; CI: 1.17-4.61; p = 0.016). | 0.000271442 | 2014 | TOMM40 | 19 | 44893408 | G | T |
rs61749721 | 20231667 | 4204 | MECP2 | umls:C0014544 | BeFree | MECP2 mutations most frequently associated with epilepsy were T158M (74%) and R106W (78%), and less frequently R255X and R306C (both 49%). | 0.014168516 | 2010 | MECP2 | X | 154031065 | G | A |
rs635311 | 19605733 | 3497 | IGHE | umls:C0014544 | BeFree | The AE3-A867D allele in humans has been associated with the development of IGE (IGE), which accounts for approximately 30% of all epilepsies. | 0.001357209 | 2009 | SLC4A3 | 2 | 219637645 | A | C,T |
rs635311 | 19605733 | 6508 | SLC4A3 | umls:C0014544 | BeFree | The AE3-A867D allele in humans has been associated with the development of IGE (IGE), which accounts for approximately 30% of all epilepsies. | 0.002909916 | 2009 | SLC4A3 | 2 | 219637645 | A | C,T |
rs63750231 | 15230697 | 5663 | PSEN1 | umls:C0014544 | BeFree | CA1 hippocampal neuronal loss in familial Alzheimer's disease presenilin-1 E280A mutation is related to epilepsy. | 0.000814326 | 2004 | PSEN1 | 14 | 73198100 | A | C,G |
rs671 | 25313998 | 1991 | ELANE | umls:C0014544 | BeFree | The ALDH2 rs671 polymorphism affects post-stroke epilepsy susceptibility and plasma 4-HNE levels. | 0.000271442 | 2014 | ALDH2 | 12 | 111803962 | G | A |
rs671 | 25313998 | 217 | ALDH2 | umls:C0014544 | BeFree | The ALDH2 rs671 polymorphism affects post-stroke epilepsy susceptibility and plasma 4-HNE levels. | 0.000271442 | 2014 | ALDH2 | 12 | 111803962 | G | A |
rs6732655 | 25087078 | 6323 | SCN1A | umls:C0014544 | GWASCAT | Meta-analysis of the all-epilepsy cohort identified loci at 2q24.3 (p=8·71 × 10(-10)), implicating SCN1A, and at 4p15.1 (p=5·44 × 10(-9)), harbouring PCDH7, which encodes a protocadherin molecule not previously implicated in epilepsy. | 0.323466984 | 2014 | SCN1A | 2 | 166038556 | A | T |
rs6883877 | 24236484 | 2554 | GABRA1 | umls:C0014544 | BeFree | Further multivariate logistic regression and multifactor dimensionality reduction analyses of interactions between these genes showed that under adjustment of clinical factors, the epilepsy treatment outcomes were significantly associated with the genotype combinations of GABRA1 rs6883877, GABRA2 rs511310 and GABRA3 rs4828696 (p < 0.0001; adjusted r(2) = 0.149). | 0.004810009 | 2014 | GABRA1 | 5 | 161851332 | C | T |
rs6883877 | 24236484 | 2556 | GABRA3 | umls:C0014544 | BeFree | Further multivariate logistic regression and multifactor dimensionality reduction analyses of interactions between these genes showed that under adjustment of clinical factors, the epilepsy treatment outcomes were significantly associated with the genotype combinations of GABRA1 rs6883877, GABRA2 rs511310 and GABRA3 rs4828696 (p < 0.0001; adjusted r(2) = 0.149). | 0.000271442 | 2014 | GABRA1 | 5 | 161851332 | C | T |
rs6883877 | 24236484 | 2555 | GABRA2 | umls:C0014544 | BeFree | Further multivariate logistic regression and multifactor dimensionality reduction analyses of interactions between these genes showed that under adjustment of clinical factors, the epilepsy treatment outcomes were significantly associated with the genotype combinations of GABRA1 rs6883877, GABRA2 rs511310 and GABRA3 rs4828696 (p < 0.0001; adjusted r(2) = 0.149). | 0.000271442 | 2014 | GABRA1 | 5 | 161851332 | C | T |
rs72700966 | 23962720 | 5789 | PTPRD | umls:C0014544 | GWASCAT | A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy. | 0.12 | 2014 | PTPRD | 9 | 10505224 | C | T |
rs79761183 | 25489633 | 114327 | EFHC1 | umls:C0014544 | BeFree | Public databases also show that the EFHC1 P77T-R221H JME haplotype is present in unphenotyped West African ancestry populations, and we show that it can be found at appreciable frequency in healthy individuals with no family history of epilepsy. | 0.004895885 | 2014 | EFHC1 | 6 | 52452776 | G | A |
rs80356616 | 16087682 | 3767 | KCNJ11 | umls:C0014544 | BeFree | Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, cause permanent neonatal diabetes either alone (R201C, R201H) or in association with developmental delay, muscle weakness and epilepsy (V59G,V59M). | 0.010344586 | 2005 | KCNJ11 | 11 | 17387917 | C | T |
rs80356617 | 16087682 | 3767 | KCNJ11 | umls:C0014544 | BeFree | Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, cause permanent neonatal diabetes either alone (R201C, R201H) or in association with developmental delay, muscle weakness and epilepsy (V59G,V59M). | 0.010344586 | 2005 | KCNJ11 | 11 | 17387916 | A | C |
rs80356624 | 16087682 | 3767 | KCNJ11 | umls:C0014544 | BeFree | Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, cause permanent neonatal diabetes either alone (R201C, R201H) or in association with developmental delay, muscle weakness and epilepsy (V59G,V59M). | 0.010344586 | 2005 | KCNJ11 | 11 | 17387490 | C | T,A |
rs880626 | 25668517 | 6323 | SCN1A | umls:C0014544 | BeFree | RORA gene rs12912233 and rs880626 polymorphisms and their interaction with SCN1A rs3812718 in the risk of epilepsy: a case-control study in Malaysia. | 0.323466984 | 2015 | RORA | 15 | 60691230 | G | A |
rs880626 | 25668517 | 6095 | RORA | umls:C0014544 | BeFree | RORA gene rs12912233 and rs880626 polymorphisms and their interaction with SCN1A rs3812718 in the risk of epilepsy: a case-control study in Malaysia. | 0.000271442 | 2015 | RORA | 15 | 60691230 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:207) | |||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
1 | 3275149 | rs12748963 | C | T | rs12748963 | 22116939 | 1.74E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
1 | 4748305 | rs1076944 | G | T | rs1076944 | 22116939 | 2.04E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
1 | 34750936 | rs771390 | T | C | rs771390 | 22949513 | 6.00E-07 | All GGE | 1.22 | [1.12-1.32] | 702 European ancestry GAE cases; 586 European ancestry JME cases; 239 European ancestry other GGE cases; 2,461 European ancestry controls | European(3988) | ALL(3988) | EUR(3988) | ALL(3988) | Epilepsy (generalized) | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | rs771390-C | Research Support, Non-U.S. Gov't | C | NA |
1 | 77751193 | rs10747353 | A | C | rs10747353 | 22116939 | 3.49E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
1 | 77768778 | rs10493603 | A | G | rs10493603 | 22116939 | 3.26E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
1 | 77784762 | rs12751884 | A | G | rs12751884 | 22116939 | 3.11E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
1 | 77815566 | rs1010196 | C | T | rs1010196 | 22116939 | 4.34E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
1 | 96025546 | rs1396626 | G | A | rs1396626 | 22116939 | 3.32E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
1 | 97316690 | rs11584143 | G | A | rs11584143 | 22116939 | 1.22E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
1 | 115877522 | rs10858075 | C | T | rs10858075 | 22116939 | 3.37E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
1 | 146969411 | rs12406844 | C | T | rs12406844 | 22116939 | 2.98E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
1 | 169405517 | rs12092506 | A | G | rs12092506 | 22116939 | 2.13E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
1 | 186870072 | rs12720541 | G | T | rs12720541 | 22949513 | 9.00E-06 | GAE | 1.21 | [1.10-1.35] | 702 European ancestry GAE cases; 586 European ancestry JME cases; 239 European ancestry other GGE cases; 2,461 European ancestry controls | European(3988) | ALL(3988) | EUR(3988) | ALL(3988) | Epilepsy (generalized) | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | rs12720541-T | Research Support, Non-U.S. Gov't | G | PLA2G4A |
1 | 200703541 | rs6660197 | C | T | rs6660197 | 22116939 | 6.78E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
1 | 200811765 | rs12742404 | A | G | rs12742404 | 22116939 | 6.39E-06 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
1 | 200826769 | rs2292096 | A | G | rs2292096 | 22116939 | 1.00E-08 | NA | 1.59 | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
1 | 239970097 | rs12059546 | A | G | rs12059546 | 22949513 | 4.00E-08 | JME | 1.42 | [1.26-1.61] | 702 European ancestry GAE cases; 586 European ancestry JME cases; 239 European ancestry other GGE cases; 2,461 European ancestry controls | European(3988) | ALL(3988) | EUR(3988) | ALL(3988) | Epilepsy (generalized) | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | rs12059546-G | Research Support, Non-U.S. Gov't | A | CHRM3 |
2 | 15106804 | rs4670047 | C | T | rs4670047 | 22116939 | 6.02E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
2 | 15110323 | rs7587023 | C | T | rs7587023 | 22116939 | 4.37E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
2 | 57934055 | rs13026414 | C | T | rs13026414 | 22949513 | 2.00E-09 | All GGE | 1.23 | [1.15-1.32] | 702 European ancestry GAE cases; 586 European ancestry JME cases; 239 European ancestry other GGE cases; 2,461 European ancestry controls | European(3988) | ALL(3988) | EUR(3988) | ALL(3988) | Epilepsy (generalized) | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | rs13026414-C | Research Support, Non-U.S. Gov't | C | NA |
2 | 58094873 | rs2717068 | A | C | rs2717068 | 22949513 | 4.00E-07 | GAE | 1.27 | [1.16-1.40] | 702 European ancestry GAE cases; 586 European ancestry JME cases; 239 European ancestry other GGE cases; 2,461 European ancestry controls | European(3988) | ALL(3988) | EUR(3988) | ALL(3988) | Epilepsy (generalized) | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | rs2717068-T | Research Support, Non-U.S. Gov't | G | NA |
2 | 67952811 | rs4671197 | T | C | rs4671197 | 22116939 | 2.96E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
2 | 78117502 | rs10865432 | C | A | rs10865432 | 22116939 | 1.93E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
2 | 78120305 | rs1897616 | C | T | rs1897616 | 22116939 | 3.68E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
2 | 78124090 | rs10172925 | G | A | rs10172925 | 22116939 | 1.47E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
2 | 78133560 | rs7602889 | T | C | rs7602889 | 22116939 | 1.30E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
2 | 78139549 | rs4853352 | G | A | rs4853352 | 22116939 | 5.50E-06 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
2 | 78144479 | rs4853355 | G | A | rs4853355 | 22116939 | 3.88E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
2 | 78145340 | rs1433197 | T | C | rs1433197 | 22116939 | 6.06E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
2 | 78170534 | rs1368502 | G | A | rs1368502 | 22116939 | 2.15E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
2 | 78199268 | rs1074192 | C | T | rs1074192 | 22116939 | 6.97E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
2 | 78214766 | rs1609077 | T | C | rs1609077 | 22116939 | 6.34E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
2 | 78221253 | rs2163873 | T | G | rs2163873 | 22116939 | 8.01E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
2 | 78263883 | rs1527194 | T | C | rs1527194 | 22116939 | 7.08E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
2 | 78302215 | rs2164851 | G | A | rs2164851 | 22116939 | 1.49E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
2 | 78311781 | rs1437985 | T | C | rs1437985 | 22116939 | 3.57E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
2 | 78314039 | rs6547183 | T | C | rs6547183 | 22116939 | 3.59E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
2 | 78332806 | rs10173591 | C | T | rs10173591 | 22116939 | 4.93E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
2 | 78341245 | rs1370637 | C | A | rs1370637 | 22116939 | 5.57E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
2 | 86683642 | rs2030259 | A | G | rs2030259 | 22116939 | 4.14E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
2 | 86720841 | rs2367575 | C | T | rs2367575 | 22116939 | 3.19E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
2 | 145359909 | rs10496964 | C | T | rs10496964 | 22949513 | 9.00E-09 | GAE | 1.47 | [1.28-1.67] | 702 European ancestry GAE cases; 586 European ancestry JME cases; 239 European ancestry other GGE cases; 2,461 European ancestry controls | European(3988) | ALL(3988) | EUR(3988) | ALL(3988) | Epilepsy (generalized) | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | rs10496964-C | Research Support, Non-U.S. Gov't | C | NA |
2 | 154745009 | rs16834756 | A | G | rs16834756 | 22116939 | 3.68E-06 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
2 | 166943277 | rs11890028 | T | G | rs11890028 | 22949513 | 4.00E-06 | All GGE | 1.18 | [1.09-1.27] | 702 European ancestry GAE cases; 586 European ancestry JME cases; 239 European ancestry other GGE cases; 2,461 European ancestry controls | European(3988) | ALL(3988) | EUR(3988) | ALL(3988) | Epilepsy (generalized) | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | rs11890028-T | Research Support, Non-U.S. Gov't | G | SCN1A |
2 | 212350245 | rs13021324 | T | C | rs13021324 | 22116939 | 1.59E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
2 | 212351667 | rs9941626 | T | G | rs9941626 | 22116939 | 1.23E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
2 | 223567016 | rs951997 | A | G | rs951997 | 22116939 | 4.53E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
2 | 237531788 | rs7588302 | T | C | rs7588302 | 22116939 | 1.78E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
3 | 21686466 | rs1387822 | G | A | rs1387822 | 22116939 | 2.51E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
3 | 21701712 | rs1320292 | A | G | rs1320292 | 22116939 | 1.82E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
3 | 21719246 | rs1490157 | C | T | rs1490157 | 22116939 | 2.36E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
3 | 31851726 | rs6773772 | T | C | rs6773772 | 22116939 | 3.41E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
3 | 40267321 | rs2679822 | T | C | rs2679822 | 22116939 | 6.76E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
3 | 40273500 | rs6599081 | A | G | rs6599081 | 22116939 | 1.29E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
3 | 40275655 | rs2371136 | C | T | rs2371136 | 22116939 | 1.29E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
3 | 106928929 | rs11915523 | A | G | rs11915523 | 22116939 | 1.36E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
3 | 115522560 | rs1062118 | A | G | rs1062118 | 22116939 | 2.96E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
3 | 171292911 | rs387048 | C | A | rs387048 | 22116939 | 7.26E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
3 | 171301434 | rs626270 | T | C | rs626270 | 22116939 | 1.62E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
3 | 171304058 | rs372623 | C | T | rs372623 | 22116939 | 6.40E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
3 | 183425850 | rs7612556 | A | G | rs7612556 | 22116939 | 4.97E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
3 | 183455153 | rs262977 | A | G | rs262977 | 22116939 | 2.72E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
3 | 183476685 | rs262993 | G | A | rs262993 | 22116939 | 4.62E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
3 | 183517999 | rs263044 | A | G | rs263044 | 22116939 | 3.52E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
3 | 183527618 | rs263025 | T | C | rs263025 | 22116939 | 4.76E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
3 | 192223737 | rs4687336 | G | A | rs4687336 | 22116939 | 7.06E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
4 | 27298305 | rs6821695 | T | C | rs6821695 | 22116939 | 5.23E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
4 | 55455944 | rs17826780 | C | T | rs17826780 | 22116939 | 4.31E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
4 | 77763998 | rs10518159 | C | T | rs10518159 | 22116939 | 9.32E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
4 | 78193913 | rs10518170 | A | G | rs10518170 | 22116939 | 1.12E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
4 | 127213903 | rs10011584 | T | G | rs10011584 | 22116939 | 7.03E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
4 | 150457508 | rs1394028 | C | T | rs1394028 | 22116939 | 5.46E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
4 | 150483241 | rs2654798 | A | G | rs2654798 | 22116939 | 5.20E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
4 | 150520884 | rs2654831 | T | G | rs2654831 | 22116939 | 3.93E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
4 | 150725212 | rs10030601 | T | C | rs10030601 | 22949513 | 1.00E-06 | GAE | 1.58 | [1.29-1.93] | 702 European ancestry GAE cases; 586 European ancestry JME cases; 239 European ancestry other GGE cases; 2,461 European ancestry controls | European(3988) | ALL(3988) | EUR(3988) | ALL(3988) | Epilepsy (generalized) | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | rs10030601-C | Research Support, Non-U.S. Gov't | C | LOC285423 |
4 | 165404456 | rs4691122 | T | G | rs4691122 | 22116939 | 4.58E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
4 | 170146632 | rs1876398 | G | A | rs1876398 | 22116939 | 2.57E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
4 | 170166749 | rs1876396 | C | T | rs1876396 | 22116939 | 1.99E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
4 | 170203848 | rs13112591 | A | C | rs13112591 | 22116939 | 1.33E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
4 | 171634933 | rs7663379 | T | C | rs7663379 | 22116939 | 5.47E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
5 | 28585628 | rs4478333 | G | A | rs4478333 | 22116939 | 4.09E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
5 | 35668036 | rs2172754 | A | G | rs2172754 | 22116939 | 1.89E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G,A |
5 | 35677385 | rs6872795 | A | G | rs6872795 | 22116939 | 1.32E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
5 | 41302815 | rs320614 | G | A | rs320614 | 22116939 | 4.24E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
5 | 66152258 | rs39861 | A | G | rs39861 | 22949513 | 3.00E-07 | JME | 1.26 | [1.13-1.41] | 702 European ancestry GAE cases; 586 European ancestry JME cases; 239 European ancestry other GGE cases; 2,461 European ancestry controls | European(3988) | ALL(3988) | EUR(3988) | ALL(3988) | Epilepsy (generalized) | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | rs39861-C | Research Support, Non-U.S. Gov't | T | MAST4 |
5 | 104490887 | rs10043572 | C | T | rs10043572 | 22116939 | 4.10E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
5 | 120369453 | rs17147260 | A | C | rs17147260 | 22116939 | 1.49E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
5 | 133023122 | rs10751462 | A | G | rs10751462 | 22116939 | 1.43E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
5 | 133037459 | rs720770 | C | T | rs720770 | 22116939 | 1.81E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
5 | 133047775 | rs6596147 | T | C | rs6596147 | 22116939 | 2.97E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
5 | 142529960 | rs258799 | T | G | rs258799 | 22116939 | 1.90E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
5 | 164148566 | rs1293554 | G | A | rs1293554 | 22116939 | 2.14E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
5 | 166887629 | rs1864975 | T | C | rs1864975 | 22116939 | 3.39E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
6 | 7267582 | rs2842363 | A | G | rs2842363 | 22116939 | 1.75E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
6 | 22365762 | rs1205918 | A | G | rs1205918 | 22116939 | 5.40E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
6 | 80564519 | rs9341799 | T | C | rs9341799 | 22116939 | 2.08E-06 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
6 | 80564836 | rs346291 | C | T | rs346291 | 22116939 | 2.51E-06 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
6 | 93942185 | rs1486756 | A | G | rs1486756 | 22116939 | 1.85E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
6 | 101957291 | rs7747072 | T | C | rs7747072 | 22116939 | 1.56E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
6 | 101964914 | rs9390754 | A | G | rs9390754 | 22116939 | 5.46E-06 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
6 | 102307069 | rs9390790 | G | A | rs9390790 | 22116939 | 6.00E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
6 | 102327303 | rs4840200 | T | C | rs4840200 | 22116939 | 1.42E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
6 | 133350936 | rs3012465 | A | G | rs3012465 | 22116939 | 1.57E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
6 | 133768525 | rs17062561 | A | G | rs17062561 | 22116939 | 4.31E-06 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
6 | 133803682 | rs6905892 | C | T | rs6905892 | 22116939 | 8.98E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
7 | 5618237 | rs2693946 | C | T | rs2693946 | 22116939 | 9.12E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
7 | 24468539 | rs12533743 | T | C | rs12533743 | 22116939 | 3.64E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
7 | 49362161 | rs1529590 | C | T | rs1529590 | 22116939 | 2.20E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
7 | 97857675 | rs2270604 | T | C | rs2270604 | 22116939 | 4.17E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
7 | 97880226 | rs954050 | T | C | rs954050 | 22116939 | 1.18E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
7 | 97965016 | rs3801263 | A | G | rs3801263 | 22116939 | 3.02E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T,C |
7 | 97972946 | rs6945554 | T | C | rs6945554 | 22116939 | 3.02E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
7 | 97975542 | rs6961129 | T | G | rs6961129 | 22116939 | 2.91E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
7 | 120155270 | rs702416 | C | T | rs702416 | 22116939 | 2.61E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
7 | 120156307 | rs802333 | T | C | rs802333 | 22116939 | 5.12E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
7 | 120169316 | rs802372 | A | G | rs802372 | 22116939 | 4.16E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
7 | 157700614 | rs6944306 | C | T | rs6944306 | 22116939 | 7.59E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
7 | 157734314 | rs920023 | A | G | rs920023 | 22116939 | 4.02E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
7 | 157735966 | rs12670619 | G | T | rs12670619 | 22116939 | 6.76E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
7 | 157736936 | rs10249811 | T | G | rs10249811 | 22116939 | 2.32E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
7 | 157743779 | rs2164217 | C | T | rs2164217 | 22116939 | 3.56E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
8 | 53031607 | rs1346159 | G | A | rs1346159 | 22116939 | 1.61E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G,A |
8 | 53393301 | rs2613258 | C | A | rs2613258 | 22116939 | 6.85E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
8 | 59254904 | rs7820691 | T | C | rs7820691 | 22116939 | 1.93E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
8 | 66690822 | rs974149 | A | G | rs974149 | 22116939 | 3.02E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
8 | 66753261 | rs6472225 | C | T | rs6472225 | 22116939 | 7.09E-06 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
8 | 92970153 | rs4500123 | A | G | rs4500123 | 22116939 | 1.39E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
8 | 129314766 | rs976226 | G | A | rs976226 | 22116939 | 3.00E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
8 | 132531794 | rs273413 | G | A | rs273413 | 22116939 | 7.24E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C,T |
8 | 139379964 | rs340707 | T | C | rs340707 | 22116939 | 4.05E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
9 | 2640805 | rs10967306 | G | A | rs10967306 | 22116939 | 3.94E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
9 | 20219315 | rs2034875 | G | A | rs2034875 | 22116939 | 6.64E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
9 | 26117767 | rs16910176 | T | C | rs16910176 | 22116939 | 1.87E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
9 | 36154678 | rs10814339 | A | C | rs10814339 | 22116939 | 3.47E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
9 | 89327192 | rs4878007 | T | C | rs4878007 | 22116939 | 6.54E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
9 | 110280496 | rs7041758 | C | T | rs7041758 | 22116939 | 3.14E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
9 | 110418574 | rs7849612 | G | A | rs7849612 | 22116939 | 8.36E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
9 | 117120680 | rs7866925 | C | T | rs7866925 | 22116939 | 5.01E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
9 | 120031365 | rs4837062 | G | A | rs4837062 | 22116939 | 1.31E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
9 | 120043171 | rs7026789 | T | C | rs7026789 | 22116939 | 1.35E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
9 | 131953598 | rs10760593 | C | T | rs10760593 | 22116939 | 2.20E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
10 | 56411659 | rs1414686 | T | C | rs1414686 | 22116939 | 3.14E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
10 | 57578424 | rs4935610 | G | T | rs4935610 | 22116939 | 2.14E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
10 | 67653901 | rs1942006 | C | T | rs1942006 | 22116939 | 4.07E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
10 | 127738918 | rs1710278 | G | A | rs1710278 | 22116939 | 5.49E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
10 | 127744829 | rs1710293 | A | C | rs1710293 | 22116939 | 1.67E-06 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
10 | 127755544 | rs1278280 | T | G | rs1278280 | 22116939 | 6.67E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
11 | 4953462 | rs840716 | G | T | rs840716 | 22116939 | 2.66E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
11 | 29897097 | rs10501120 | G | A | rs10501120 | 22116939 | 7.46E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
11 | 29938269 | rs12222280 | T | C | rs12222280 | 22116939 | 1.12E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
11 | 40276725 | rs1037412 | A | G | rs1037412 | 22116939 | 1.01E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
11 | 85526151 | rs11607789 | C | T | rs11607789 | 22116939 | 4.08E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
11 | 105503658 | rs4754133 | T | C | rs4754133 | 22116939 | 5.29E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
11 | 105588070 | rs12808612 | A | G | rs12808612 | 22116939 | 9.92E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
11 | 118793613 | rs11217091 | T | C | rs11217091 | 22116939 | 4.89E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
12 | 3374675 | rs7296705 | T | C | rs7296705 | 22116939 | 6.20E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
12 | 32378417 | rs792853 | G | A | rs792853 | 22116939 | 1.50E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
12 | 40697434 | rs10784498 | G | A | rs10784498 | 22116939 | 4.37E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
12 | 40768582 | rs4768239 | G | A | rs4768239 | 22116939 | 1.30E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
12 | 40792224 | rs11564172 | C | A | rs11564172 | 22116939 | 7.98E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
12 | 98208150 | rs11109229 | G | T | rs11109229 | 22116939 | 4.30E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
12 | 109432616 | rs1865147 | G | T | rs1865147 | 22116939 | 8.52E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
12 | 125778841 | rs12146745 | G | T | rs12146745 | 22116939 | 8.15E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
13 | 31958011 | rs1571029 | G | A | rs1571029 | 22116939 | 1.74E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
13 | 51588003 | rs9526715 | C | T | rs9526715 | 22116939 | 4.28E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
13 | 85528032 | rs4911044 | T | G | rs4911044 | 22116939 | 3.14E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
13 | 85588545 | rs1354033 | T | C | rs1354033 | 22116939 | 1.12E-06 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
13 | 85605946 | rs2485241 | T | C | rs2485241 | 22116939 | 1.07E-06 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
13 | 85609277 | rs2485247 | T | C | rs2485247 | 22116939 | 3.97E-06 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
14 | 44130700 | rs4900643 | G | T | rs4900643 | 22116939 | 1.94E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
14 | 97331618 | rs10135704 | T | C | rs10135704 | 22116939 | 9.51E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
15 | 25063397 | rs17114774 | G | A | rs17114774 | 22116939 | 1.11E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
15 | 25064483 | rs7171320 | T | C | rs7171320 | 22116939 | 1.20E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
15 | 55125380 | rs8025011 | G | T | rs8025011 | 22116939 | 1.47E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
15 | 58992591 | rs11853043 | T | C | rs11853043 | 22116939 | 1.00E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
15 | 60983429 | rs880626 | G | A | rs880626 | 22116939 | 1.51E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
15 | 95473145 | rs4281667 | T | G | rs4281667 | 22116939 | 1.62E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
15 | 95479659 | rs8037155 | T | G | rs8037155 | 22116939 | 2.35E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
16 | 4103871 | rs2601828 | T | C | rs2601828 | 22116939 | 1.04E-06 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
16 | 23959420 | rs1989647 | G | A | rs1989647 | 22116939 | 8.89E-06 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
16 | 49997941 | rs6500271 | G | T | rs6500271 | 22116939 | 1.48E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
16 | 65170890 | rs3890768 | C | A | rs3890768 | 22116939 | 2.38E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
16 | 84448418 | rs17741422 | T | C | rs17741422 | 22116939 | 3.31E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
17 | 40219433 | rs1076188 | T | G | rs1076188 | 22116939 | 3.61E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
17 | 40224118 | rs4796768 | C | T | rs4796768 | 22116939 | 1.21E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
17 | 46123004 | rs72823592 | G | A | rs72823592 | 22949513 | 9.00E-09 | All GGE | 1.3 | [1.20-1.41] | 702 European ancestry GAE cases; 586 European ancestry JME cases; 239 European ancestry other GGE cases; 2,461 European ancestry controls | European(3988) | ALL(3988) | EUR(3988) | ALL(3988) | Epilepsy (generalized) | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | rs72823592-G | Research Support, Non-U.S. Gov't | G | NA |
17 | 48195818 | rs531650995 | CACAG | C | rs739500 | 22116939 | 2.27E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
17 | 48195818 | rs739500 | C | T | rs739500 | 22116939 | 2.27E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
18 | 196829 | rs655781 | G | A | rs655781 | 22116939 | 1.56E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
18 | 204232 | rs585578 | G | A | rs585578 | 22116939 | 1.40E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
18 | 218695 | rs481077 | T | C | rs481077 | 22116939 | 1.82E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
18 | 220658 | rs672856 | G | A | rs672856 | 22116939 | 1.57E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
18 | 250047 | rs577454 | T | C | rs577454 | 22116939 | 1.76E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
18 | 286971 | rs620837 | C | A | rs620837 | 22116939 | 7.83E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | A |
18 | 287648 | rs16941940 | T | G | rs16941940 | 22116939 | 7.06E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
18 | 322183 | rs554821 | G | A | rs554821 | 22116939 | 2.62E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
18 | 322522 | rs621636 | C | T | rs621636 | 22116939 | 2.59E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
18 | 22714149 | rs7228750 | G | A | rs7228750 | 22116939 | 3.53E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
19 | 57109821 | rs10420820 | C | T | rs10420820 | 22116939 | 2.19E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
19 | 57113178 | rs3752183 | C | T | rs3752183 | 22116939 | 1.60E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
20 | 6700202 | rs6054486 | T | G | rs6054486 | 22116939 | 9.16E-06 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
21 | 18863967 | rs2824332 | C | T | rs2824332 | 22116939 | 1.22E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
21 | 18900044 | rs2824335 | C | A | rs2824335 | 22116939 | 4.30E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | C |
21 | 20124969 | rs1573443 | C | T | rs1573443 | 22116939 | 2.06E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
21 | 20126875 | rs11700947 | C | T | rs11700947 | 22116939 | 1.13E-04 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
21 | 31196773 | rs9983495 | G | T | rs9983495 | 22116939 | 5.49E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | G |
21 | 41743639 | rs1980406 | T | C | rs1980406 | 22116939 | 1.12E-05 | NA | NA | NA | 504 Han Chinese cases; 2,947 Han Chinese controls | Han Chinese(3451) | ALL(3451) | ASN(3451) | ALL(3451) | Epilepsy | HPOID:0001250 | Seizures | DOID:1826 | epilepsy syndrome | D004827 | Epilepsy | EFOID:0000474 | epilepsy | Epilepsy | NA | Meta-Analysis | Research Support, Non-U.S. Gov't | T |
Mapped by lexical matching(Total Items:0) |
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(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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(Waiting for update.) |
Chemical(Total Drugs:50) | |||||||||
---|---|---|---|---|---|---|---|---|---|
CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
C0014544 | amitriptyline | D000639 | 50-48-6 | epilepsy | MESH:D004827 | marker/mechanism | 5823053 | ||
C0014544 | amphetamine | D000661 | 300-62-9 | epilepsy | MESH:D004827 | marker/mechanism | 8765941 | ||
C0014544 | amphetamine | D000661 | 300-62-9 | epilepsy | MESH:D004827 | therapeutic | 7715822 | ||
C0014544 | ampicillin | D000667 | 69-53-4 | epilepsy | MESH:D004827 | marker/mechanism | 8487076 | ||
C0014544 | atropine | D001285 | 51-55-8 | epilepsy | MESH:D004827 | therapeutic | 4058572 | ||
C0014544 | busulfan | D002066 | 55-98-1 | epilepsy | MESH:D004827 | marker/mechanism | 2041395 | ||
C0014544 | carbachol | D002217 | - | epilepsy | MESH:D004827 | marker/mechanism | 4058572 | ||
C0014544 | carbamazepine | D002220 | 298-46-4 | epilepsy | MESH:D004827 | therapeutic | 10371552 | ||
C0014544 | chloramphenicol | D002701 | 56-75-7 | epilepsy | MESH:D004827 | marker/mechanism | 8487076 | ||
C0014544 | cimetidine | D002927 | 51481-61-9 | epilepsy | MESH:D004827 | marker/mechanism | 6489391 | ||
C0014544 | ciprofloxacin | D002939 | 85721-33-1 | epilepsy | MESH:D004827 | marker/mechanism | 8487076 | ||
C0014544 | citalopram | D015283 | 59729-33-8 | epilepsy | MESH:D004827 | therapeutic | 20707986 | ||
C0014544 | clonidine | D003000 | 4205-90-7 | epilepsy | MESH:D004827 | marker/mechanism | 15792900 | ||
C0014544 | clozapine | D003024 | 5786-21-0 | epilepsy | MESH:D004827 | marker/mechanism | 1480676 | ||
C0014544 | clozapine | D003024 | 5786-21-0 | epilepsy | MESH:D004827 | therapeutic | 3751418 | ||
C0014544 | dronabinol | D013759 | - | epilepsy | MESH:D004827 | therapeutic | 821787 | ||
C0014544 | cisplatin | D002945 | 15663-27-1 | epilepsy | MESH:D004827 | marker/mechanism | 15354722 | ||
C0014544 | enoxacin | D015365 | 74011-58-8 | epilepsy | MESH:D004827 | marker/mechanism | 9010832 | ||
C0014544 | erythromycin | D004917 | 114-07-8 | epilepsy | MESH:D004827 | marker/mechanism | 8487076 | ||
C0014544 | ethosuximide | D005013 | 77-67-8 | epilepsy | MESH:D004827 | therapeutic | 812426 | ||
C0014544 | felbamate | C047360 | 25451-15-4 | epilepsy | MESH:D004827 | therapeutic | 7705426 | ||
C0014544 | fluoxetine | D005473 | 54910-89-3 | epilepsy | MESH:D004827 | therapeutic | 12632110 | ||
C0014544 | fluvoxamine | D016666 | 54739-18-3 | epilepsy | MESH:D004827 | marker/mechanism | 1958958 | ||
C0014544 | folic acid | D005492 | 59-30-3 | epilepsy | MESH:D004827 | marker/mechanism | 1115018 | ||
C0014544 | gabapentin | C040029 | 60142-96-3 | epilepsy | MESH:D004827 | therapeutic | 16675199 | ||
C0014544 | griseofulvin | D006118 | 126-07-8 | epilepsy | MESH:D004827 | marker/mechanism | 595848 | ||
C0014544 | haloperidol | D006220 | 52-86-8 | epilepsy | MESH:D004827 | marker/mechanism | 3751418 | ||
C0014544 | metaraminol | D008680 | 54-49-9 | epilepsy | MESH:D004827 | marker/mechanism | 2524805 | ||
C0014544 | ifosfamide | D007069 | 3778-73-2 | epilepsy | MESH:D004827 | marker/mechanism | 15354722 | ||
C0014544 | imipramine | D007099 | 50-49-7 | epilepsy | MESH:D004827 | marker/mechanism | 5823053 | ||
C0014544 | lamotrigine | C047781 | 84057-84-1 | epilepsy | MESH:D004827 | therapeutic | 10948577 | ||
C0014544 | lidocaine | D008012 | 137-58-6 | epilepsy | MESH:D004827 | marker/mechanism | 9768791 | ||
C0014544 | mephenytoin | D008617 | 1950/12/4 | epilepsy | MESH:D004827 | therapeutic | 1001284 | ||
C0014544 | methohexital | D008723 | 18652-93-2 | epilepsy | MESH:D004827 | marker/mechanism | 9701374 | ||
C0014544 | methotrexate | D008727 | 1959/5/2 | epilepsy | MESH:D004827 | marker/mechanism | 11019787 | ||
C0014544 | morphine | D009020 | 57-27-2 | epilepsy | MESH:D004827 | marker/mechanism | 1331416 | ||
C0014544 | norepinephrine | D009638 | 51-41-2 | epilepsy | MESH:D004827 | therapeutic | 821787 | ||
C0014544 | pefloxacin | D015366 | 70458-92-3 | epilepsy | MESH:D004827 | marker/mechanism | 2503281 | ||
C0014544 | pentobarbital | D010424 | 76-74-4 | epilepsy | MESH:D004827 | therapeutic | 7705426 | ||
C0014544 | phenytoin | D010672 | 57-41-0 | epilepsy | MESH:D004827 | therapeutic | 10219285 | ||
C0014544 | picrotoxin | D010852 | 124-87-8 | epilepsy | MESH:D004827 | marker/mechanism | 1922924 | ||
C0014544 | pilocarpine | D010862 | 92-13-7 | epilepsy | MESH:D004827 | marker/mechanism | 10401644 | ||
C0014544 | pregabalin | D000069583 | - | epilepsy | MESH:D004827 | therapeutic | 25290014 | ||
C0014544 | protriptyline | D011530 | 438-60-8 | epilepsy | MESH:D004827 | marker/mechanism | 5823053 | ||
C0014544 | thalidomide | D013792 | 50-35-1 | epilepsy | MESH:D004827 | marker/mechanism | 1278626 | ||
C0014544 | topiramate | C052342 | 97240-79-4 | epilepsy | MESH:D004827 | therapeutic | 12042105 | ||
C0014544 | trimethadione | D014293 | 127-48-0 | epilepsy | MESH:D004827 | therapeutic | 413897 | ||
C0014544 | valproic acid | D014635 | 99-66-1 | epilepsy | MESH:D004827 | marker/mechanism | 10846716 | ||
C0014544 | valproic acid | D014635 | 99-66-1 | epilepsy | MESH:D004827 | therapeutic | 10371552 | ||
C0014544 | vigabatrin | D020888 | 60643-86-9 | epilepsy | MESH:D004827 | therapeutic | 10219272 |
FDA approved drug and dosage information(Total Drugs:29) | ||||||||
---|---|---|---|---|---|---|---|---|
DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
MESH:D004827 | neurontin | gabapentin | 100MG | CAPSULE;ORAL | Prescription | AB | Yes | No |
MESH:D004827 | neurontin | gabapentin | 600MG | TABLET;ORAL | Prescription | AB | Yes | No |
MESH:D004827 | neurontin | gabapentin | 250MG/5ML | SOLUTION;ORAL | Prescription | AA | Yes | Yes |
MESH:D004827 | neurontin | gabapentin | 0 | SOLUTION; ORAL | Prescription | None | No | No |
MESH:D004827 | neurontin | gabapentin | 600MG | TABLET; ORAL | Prescription | None | No | No |
MESH:D004827 | neurontin | gabapentin | 800MG | CAPSULE; ORAL | Prescription | None | No | No |
MESH:D004827 | neurontin | gabapentin | 250MG/5ML | SOLUTION; ORAL | Prescription | None | No | No |
MESH:D004827 | busulfex | busulfan | 6MG/ML | INJECTABLE;INJECTION | Prescription | AP | Yes | Yes |
MESH:D004827 | lamictal | lamotrigine | 100MG | TABLET;ORAL | Prescription | AB | Yes | No |
MESH:D004827 | lamictal | lamotrigine | 100MG | TABLET;ORAL | Prescription | AB | Yes | No |
MESH:D004827 | lamictal | lamotrigine | 100MG | TABLET;ORAL | Prescription | AB | Yes | No |
MESH:D004827 | lamictal xr | lamotrigine | 25MG | TABLET, EXTENDED RELEASE;ORAL | Prescription | AB | Yes | No |
MESH:D004827 | lamictal xr | lamotrigine | 25MG | TABLET, EXTENDED RELEASE;ORAL | Prescription | AB | Yes | No |
MESH:D004827 | lamictal xr | lamotrigine | 25MG | TABLET, EXTENDED RELEASE;ORAL | Prescription | AB | Yes | No |
MESH:D004827 | cipro | ciprofloxacin | 400MG/40ML (10MG/ML) | INJECTABLE;INJECTION | Discontinued | None | Yes | No |
MESH:D004827 | cipro | ciprofloxacin | 250MG/5ML | FOR SUSPENSION;ORAL | Prescription | AB | Yes | No |
MESH:D004827 | topamax | topiramate | 100MG | TABLET;ORAL | Prescription | AB | Yes | Yes |
MESH:D004827 | topamax | topiramate | 15MG | CAPSULE;ORAL | Prescription | AB | Yes | No |
MESH:D004827 | topamax | topiramate | 100MG | TABLET;ORAL | Prescription | AB | Yes | Yes |
MESH:D004827 | topamax | topiramate | 15MG | CAPSULE;ORAL | Prescription | AB | Yes | No |
MESH:D004827 | topamax | topiramate | 100MG | TABLET;ORAL | Prescription | AB | Yes | Yes |
MESH:D004827 | topamax | topiramate | 15MG | CAPSULE;ORAL | Prescription | AB | Yes | No |
MESH:D004827 | topamax | topiramate | 100MG | TABLET;ORAL | Prescription | AB | Yes | Yes |
MESH:D004827 | topamax | topiramate | 15MG | CAPSULE;ORAL | Prescription | AB | Yes | No |
MESH:D004827 | sabril | vigabatrin | 500MG | TABLET;ORAL | Prescription | None | Yes | Yes |
MESH:D004827 | sabril | vigabatrin | 500MG/PACKET | FOR SOLUTION;ORAL | Prescription | AA | Yes | Yes |
MESH:D004827 | lyrica | pregabalin | 25MG | CAPSULE;ORAL | Prescription | None | Yes | No |
MESH:D004827 | lyrica | pregabalin | 25MG | CAPSULE; ORAL | Prescription | None | No | No |
MESH:D004827 | lyrica | pregabalin | 25MG | CAPSULE; ORAL | Prescription | None | No | No |
FDA labeling changes(Total Drugs:29) | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DiseaseID | Pediatric_Labeling_Date | Trade_Name | Generic_Name_or_Proper_Name | Indications Studied | Label Changes Summary | Product Labeling | BPCA(B) | PREA(P) | BPCA(B) and PREA(P) | Pediatric Rule (R) | Sponsor | Pediatric Exclusivity Granted Date | NNPS |
MESH:D004827 | 12/10/2000 | neurontin | gabapentin | Adjunctive therapy in the treatment of partial seizures | Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children | Labeling | B | - | - | - | Parke-Davis | 2/2/2000 | FALSE' |
MESH:D004827 | 12/10/2000 | neurontin | gabapentin | Adjunctive therapy in the treatment of partial seizures | Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children | Labeling | B | - | - | - | Parke-Davis | 2/2/2000 | FALSE' |
MESH:D004827 | 12/10/2000 | neurontin | gabapentin | Adjunctive therapy in the treatment of partial seizures | Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children | Labeling | B | - | - | - | Parke-Davis | 2/2/2000 | FALSE' |
MESH:D004827 | 12/10/2000 | neurontin | gabapentin | Adjunctive therapy in the treatment of partial seizures | Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children | Labeling | B | - | - | - | Parke-Davis | 2/2/2000 | FALSE' |
MESH:D004827 | 12/10/2000 | neurontin | gabapentin | Adjunctive therapy in the treatment of partial seizures | Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children | Labeling | B | - | - | - | Parke-Davis | 2/2/2000 | FALSE' |
MESH:D004827 | 12/10/2000 | neurontin | gabapentin | Adjunctive therapy in the treatment of partial seizures | Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children | Labeling | B | - | - | - | Parke-Davis | 2/2/2000 | FALSE' |
MESH:D004827 | 12/10/2000 | neurontin | gabapentin | Adjunctive therapy in the treatment of partial seizures | Safety and effectiveness established down to 3 years Neuropsychiatric AE's identified in 3-12 year olds Oral clearance normalized per body weight increased in children | Labeling | B | - | - | - | Parke-Davis | 2/2/2000 | FALSE' |
MESH:D004827 | 01/13/2003 | busulfex | busulfan | Part of a conditioning regimen administered prior to hematopoietic progenitor cell transplantation for a variety of malignant hematologic or non-malignant diseases | The population pharmacokinetic estimates of busulfan for clearance and volume of distribution were determined in an open-label, uncontrolled PK study in 24 pediatric patients 5 months to 16 years who received busulfan as part of a conditioning regimen administered prior to hematopoietic progenitor cell transplantation for a variety of malignant hematologic or non-malignant diseases Suggested dosing regimen | Labeling | B | - | - | - | Orphan Medical | 12/3/2002 | FALSE' |
MESH:D004827 | 01/17/2003 | lamictal | lamotrigine | Adjunctive therapy for partial seizures | Extended indication from adults to pediatric patients e 2 years Patients aged 2 - 18 years had clearance influenced predominantly by total body weight and concurrent antiepileptic drug (AED) therapy. The oral clearance was higher, on a body weight basis, in pediatric patients than in adults Because of increased clearance in pediatrics, maintenance doses in patients weighing < 30 kg may need an increase of as much as 50% based upon clinical response Evidence shows that the inclusion of VPA in a multi-drug regimen increases the risk of serious, potentially life-threatening rash in pediatric patients Approximately 11.5% of the 1,081 pediatric patients who received the drug as adjunctive therapy in clinical trials discontinued treatment because of an AE | Labeling | B | - | - | - | GlaxoSmithKline | 02/14/2007 | FALSE' |
MESH:D004827 | 8/5/2009 | lamictal | lamotrigine | Adjunctive treatment for partial seizures in pediatric patients 1 24 months | Safety and effectiveness as adjunctive treatment for partial seizures were not demonstrated in a small randomized, double-blind, placebo-controlled, withdrawal study in pediatric patients 1 - 24 months Immediate release tablets were associated with an increased risk for infectious adverse reactions including bronchiolitis, bronchitis, ear infection, eye infection, otitis externa, pharyngitis, urinary tract infection, and viral infection (Lamictal 37%, Placebo 5%), and respiratory adverse reactions including nasal congestion, cough, and apnea. (Lamictal 26%, Placebo 5%) | Labeling | B | - | - | - | GlaxoSmithKline | 02/14/2007 | FALSE' |
MESH:D004827 | 05/18/2015 | lamictal | lamotrigine | Maintenance treatment of bipolar disorder | Safety and efficacy for the maintenance treatment of bipolar disorder were not established in a double-blind, placebo-controlled trial that evaluated 301 pediatric patients aged 10 to 17 Information on clinical trial and adverse reactions Postmarketing study | Labeling | - | P | - | - | GlaxoSmithKline | - | FALSE |
MESH:D004827 | 05/29/2009 | lamictal xr | lamotrigine | Adjunctive therapy for partial onset seizures in patients e13 years of age | Extended release tablets are indicated as adjunctive therapy for partial onset seizures with or without secondary generalization in patients e13 years Safety and effectiveness of extended release tablets for any use in patients below the age of 13 have not been established Information on adverse event profile, and clinical studies New dosage form | Labeling | - | P | - | - | GlaxoSmithKline | - | FALSE' |
MESH:D004827 | 01/29/2010 | lamictal xr | lamotrigine | Adjunctive therapy for Primary Generalized Tonic-Clonic seizures | New indication for adjunctive therapy for primary generalized tonic-clonic seizures in patients e 13 years of age Safety and effectiveness for any use in patients < 13 years have not been established Information on dosing, adverse reactions, and clinical studies | Labeling | - | P | - | - | GlaxoSmithKline | - | FALSE' |
MESH:D004827 | 04/25/2011 | lamictal xr | lamotrigine | Monotherapy in patients 13 years of age and older with partial seizures who are receiving therapy with a single antiepileptic drug (AED) | Approved for conversion to monotherapy in patients e13 years of age with partial seizures receiving treatment with a single antiepileptic drug (AED).Safety and effectiveness have not been established (1) as initial monotherapy or (2) for simultaneous conversion to monotherapy from two or more concomitant AEDsInformation on conversion to monotherapy, adverse reactions, clinical trialNew indication | Labeling | - | P | - | - | GlaxoSmithKline | - | FALSE' |
MESH:D004827 | 03/25/2004 | cipro | ciprofloxacin | Complicated UTI and pyelonephritis | Indicated for the treatment of complicated urinary tract infections (cUTIs) and pyelonephritis in pediatric patients 1 17 years of age Not drug of first choice due to increased adverse events compared to controls including events related to joints and/or surrounding tissues Information on PK and dose in pediatric patients 1 17 years of age The most frequent adverse events observed within 6 weeks of treatment initiation during the cUTI clinical trial were gastrointestinal 15% compared to 9% and musculoskeletal 9.3% compared to 6% in ciprofloxacin-treated compared to control-treated patients, respectively | Labeling | B | - | - | - | Bayer | 12/18/2003 | FALSE' |
MESH:D004827 | 03/25/2004 | cipro | ciprofloxacin | Complicated UTI and pyelonephritis | Indicated for the treatment of complicated urinary tract infections (cUTIs) and pyelonephritis in pediatric patients 1 17 years of age Not drug of first choice due to increased adverse events compared to controls including events related to joints and/or surrounding tissues Information on PK and dose in pediatric patients 1 17 years of age The most frequent adverse events observed within 6 weeks of treatment initiation during the cUTI clinical trial were gastrointestinal 15% compared to 9% and musculoskeletal 9.3% compared to 6% in ciprofloxacin-treated compared to control-treated patients, respectively | Labeling | B | - | - | - | Bayer | 12/18/2003 | FALSE' |
MESH:D004827 | 12/22/2009 | topamax | topiramate | Migraine Prophylaxis | Safety and effectiveness for migraine prevention in pediatric patients have not been established Dose-related increased shift in serum creatinine in adolescent patients occurred in a clinical study Information added to Warnings and Precautions and Pediatric Use | Labeling | - | P | - | - | Ortho-McNeil-Janssen | - | FALSE' |
MESH:D004827 | 12/22/2009 | topamax | topiramate | Migraine Prophylaxis | Safety and effectiveness for migraine prevention in pediatric patients have not been established Dose-related increased shift in serum creatinine in adolescent patients occurred in a clinical study Information added to Warnings and Precautions and Pediatric Use | Labeling | - | P | - | - | Ortho-McNeil-Janssen | - | FALSE' |
MESH:D004827 | 12/22/2009 | topamax | topiramate | Adjunctive Treatment for Partial Onset Epilepsy in Infants and Toddlers 1 to 24 months | Effectiveness was not demonstrated as adjunctive therapy in a randomized, double-blind trial in infants/toddlers 1 to 24 months of age with refractory partial onset seizures Trials in infants/toddlers 1 to 24 months suggested some adverse reactions/toxicities not previously observed in older pediatric patients and adults; i.e, growth/length retardation, certain clinical laboratory abnormalities, and other adverse reactions/toxicities that occurred with a greater frequency and/or greater severity than had been recognized previously from studies in older pediatric patients or adults for various indications. Information added to Warnings and Precautions and Pediatric Use | Labeling | B | - | - | - | Ortho-McNeil-Janssen | 07/24/2008 | FALSE' |
MESH:D004827 | 12/22/2009 | topamax | topiramate | Adjunctive Treatment for Partial Onset Epilepsy in Infants and Toddlers 1 to 24 months | Effectiveness was not demonstrated as adjunctive therapy in a randomized, double-blind trial in infants/toddlers 1 to 24 months of age with refractory partial onset seizures Trials in infants/toddlers 1 to 24 months suggested some adverse reactions/toxicities not previously observed in older pediatric patients and adults; i.e, growth/length retardation, certain clinical laboratory abnormalities, and other adverse reactions/toxicities that occurred with a greater frequency and/or greater severity than had been recognized previously from studies in older pediatric patients or adults for various indications. Information added to Warnings and Precautions and Pediatric Use | Labeling | B | - | - | - | Ortho-McNeil-Janssen | 07/24/2008 | FALSE' |
MESH:D004827 | 07/15/2011 | topamax | topiramate | Monotherapy for partial onset or primary generalized tonic-clonic seizures | Expanded age range down to 2 years; previously approved for monotherapy for partial onset or primary generalized tonic-clonic seizures in patients10 years and older Information on weight based dosing in 2 to < 10 yearsPostmarketing study | Labeling | - | P | - | - | Janssen | - | FALSE' |
MESH:D004827 | 07/15/2011 | topamax | topiramate | Monotherapy for partial onset or primary generalized tonic-clonic seizures | Expanded age range down to 2 years; previously approved for monotherapy for partial onset or primary generalized tonic-clonic seizures in patients10 years and older Information on weight based dosing in 2 to < 10 yearsPostmarketing study | Labeling | - | P | - | - | Janssen | - | FALSE' |
MESH:D004827 | 03/28/2014 | topamax | topiramate | Prophylaxis of migraine headache | Approved for use in pediatric patients 12 years and older Safety and effectiveness in pediatric patients less than12 years have not been established for the prophylaxis treatment of migraine headache In the adolescent migraine trials (12 to 17 years), the most commonly observed adverse reactions were: paresthesia, upper respiratory tract infection, anorexia, and abdominal pain The most common cognitive adverse reaction in pooled double-blind studies in adolescent patients 12 to 17 years was difficulty with concentration/attention Markedly abnormally low serum bicarbonate values indicative of metabolic acidosis were reported in topiramate-treated adolescent migraine patients In topiramate-treated patients 12 to 17 years compared to placebo-treated patients, abnormally increased results were more frequent for creatinine, BUN, uric acid, chloride, ammonia, total protein, and platelets. Abnormally decreased results were observed with topiramate vs placebo treatment for phosphorus and bicarbonate Notable changes (increases and decreases) from baseline in systolic blood pressure, diastolic blood pressure, and pulse were observed more commonly in adolescents treated with topiramate compared to adolescents treated with placebo Information on dosing, adverse reactions, laboratory abnormalities, and clinical trials Postmarketing study | Labeling | - | P | - | - | Janssen | - | FALSE' |
MESH:D004827 | 03/28/2014 | topamax | topiramate | Prophylaxis of migraine headache | Approved for use in pediatric patients 12 years and older Safety and effectiveness in pediatric patients less than12 years have not been established for the prophylaxis treatment of migraine headache In the adolescent migraine trials (12 to 17 years), the most commonly observed adverse reactions were: paresthesia, upper respiratory tract infection, anorexia, and abdominal pain The most common cognitive adverse reaction in pooled double-blind studies in adolescent patients 12 to 17 years was difficulty with concentration/attention Markedly abnormally low serum bicarbonate values indicative of metabolic acidosis were reported in topiramate-treated adolescent migraine patients In topiramate-treated patients 12 to 17 years compared to placebo-treated patients, abnormally increased results were more frequent for creatinine, BUN, uric acid, chloride, ammonia, total protein, and platelets. Abnormally decreased results were observed with topiramate vs placebo treatment for phosphorus and bicarbonate Notable changes (increases and decreases) from baseline in systolic blood pressure, diastolic blood pressure, and pulse were observed more commonly in adolescents treated with topiramate compared to adolescents treated with placebo Information on dosing, adverse reactions, laboratory abnormalities, and clinical trials Postmarketing study | Labeling | - | P | - | - | Janssen | - | FALSE' |
MESH:D004827 | 10/26/2013 | sabril | vigabatrin | Refractory complex partial seizures (rCPS) | Approved as adjunctive therapy for pediatric patients 10 years and older with rCPS for whom the potential benefits outweigh the risk of vision loss. Sabril is not a first line agent for rCPS Safety and effectiveness for pediatric patients less than 10 years with refractory rCPS have not been established Pooled data from 3 controlled trials in pediatric patients demonstrated that 6% (10/165) of Sabril patients experienced somnolence compared to 5% (5/104) of placebo patients. In those same studies, 10% (17/165) of Sabril patients experienced fatigue compared to 7% (7/104) of placebo patients; 47% (77/163) of Sabril patients versus 19% (19/102) of placebo patients gained greater than or equal to 7% of baseline body weight Adverse reactions (ARs) in the pediatric population were similar to those reported in adults. Overall, ARs in pediatric patients 10-16 years included increased weight, upper respiratory tract infection, tremor, fatigue, aggression and diplopia Information on weight based dosing, dosing in renal impairment, safety information and clinical trials | Labeling | - | - | B,P | - | Lundbeck LLC | 3/10/2013 | FALSE' |
MESH:D004827 | 10/26/2013 | sabril | vigabatrin | Refractory complex partial seizures (rCPS) | Approved as adjunctive therapy for pediatric patients 10 years and older with rCPS for whom the potential benefits outweigh the risk of vision loss. Sabril is not a first line agent for rCPS Safety and effectiveness for pediatric patients less than 10 years with refractory rCPS have not been established Pooled data from 3 controlled trials in pediatric patients demonstrated that 6% (10/165) of Sabril patients experienced somnolence compared to 5% (5/104) of placebo patients. In those same studies, 10% (17/165) of Sabril patients experienced fatigue compared to 7% (7/104) of placebo patients; 47% (77/163) of Sabril patients versus 19% (19/102) of placebo patients gained greater than or equal to 7% of baseline body weight Adverse reactions (ARs) in the pediatric population were similar to those reported in adults. Overall, ARs in pediatric patients 10-16 years included increased weight, upper respiratory tract infection, tremor, fatigue, aggression and diplopia Information on weight based dosing, dosing in renal impairment, safety information and clinical trials | Labeling | - | - | B,P | - | Lundbeck LLC | 3/10/2013 | FALSE' |
MESH:D004827 | 12/22/2016 | lyrica | pregabalin | Fibromyalgia | Safety and efficacy in pediatric patients have not been established. A 15-week, placebo-controlled trial was conducted with 107 pediatric patients with fibromyalgia, ages 12 through 17 years . The primary efficacy endpoint of change from baseline to Week 15 in mean pain intensity showed numerically greater improvement for the pregabalin-treated patients compared to placebo-treated patients, but did not reach statistical significance. The most frequently observed adverse reactions in the clinical trial included dizziness, nausea, headache, weight increased, and fatigue. The overall safety profile in adolescents was similar to that observed in adults with fibromyalgia. Postmarketing study. | Labeling | - | P | - | - | PF Prism CV | - | FALSE |
MESH:D004827 | 12/22/2016 | lyrica | pregabalin | Fibromyalgia | Safety and efficacy in pediatric patients have not been established. A 15-week, placebo-controlled trial was conducted with 107 pediatric patients with fibromyalgia, ages 12 through 17 years . The primary efficacy endpoint of change from baseline to Week 15 in mean pain intensity showed numerically greater improvement for the pregabalin-treated patients compared to placebo-treated patients, but did not reach statistical significance. The most frequently observed adverse reactions in the clinical trial included dizziness, nausea, headache, weight increased, and fatigue. The overall safety profile in adolescents was similar to that observed in adults with fibromyalgia. Postmarketing study. | Labeling | - | P | - | - | PF Prism CV | - | FALSE |
MESH:D004827 | 12/22/2016 | lyrica | pregabalin | Fibromyalgia | Safety and efficacy in pediatric patients have not been established. A 15-week, placebo-controlled trial was conducted with 107 pediatric patients with fibromyalgia, ages 12 through 17 years . The primary efficacy endpoint of change from baseline to Week 15 in mean pain intensity showed numerically greater improvement for the pregabalin-treated patients compared to placebo-treated patients, but did not reach statistical significance. The most frequently observed adverse reactions in the clinical trial included dizziness, nausea, headache, weight increased, and fatigue. The overall safety profile in adolescents was similar to that observed in adults with fibromyalgia. Postmarketing study. | Labeling | - | P | - | - | PF Prism CV | - | FALSE |