Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.060 GeneticVariation BEFREE In conclusion, our results suggest that SCN1A rs3</span>812718 polymorphism is associated with the risk of epilepsy. 29605548 2018
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.060 GeneticVariation BEFREE Association between SCN1A polymorphism rs3812718 and valproic acid resistance in epilepsy children: a case-control study and meta-analysis. 30413604 2018
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.060 GeneticVariation BEFREE Interaction between rs12912233-rs880626 and rs3812718 was associated with the epilepsy risk in the subjects overall (p=0.001). 25668517 2015
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.060 GeneticVariation BEFREE The strongest association with epilepsy was rs3812718, or SCN1A IVS5N+5G>A: odds ratio (OR) = 0.85 for allele G (p = 0.0009) and 0.73 for genotype GG versus AA (p = 0.003). 24337656 2014
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.060 GeneticVariation BEFREE SCN1A rs3812718 polymorphism and susceptibility to epilepsy with febrile seizures: a meta-analysis. 24076350 2014
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.060 GeneticVariation BEFREE A common SCN1A IVS5-91G>A (rs3812718) allele has been attributed to be a possible modifying factor for epilepsy susceptibility and therapeutic response. 23466530 2013
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
0.030 GeneticVariation BEFREE SCN1A rs3812718 polymorphism and susceptibility to epilepsy with febrile seizures: a meta-analysis. 24076350 2014
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
0.030 GeneticVariation BEFREE We conclude that in the population studied, although rs3812718 polymorphism increases the susceptibility to MTLE-HS, this is not by increasing the susceptibility to FS. 22578703 2012
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
0.030 GeneticVariation BEFREE Arecent study in Caucasians found an association between the single nucleotide polymorphism (SNP) of SCN1A, IVS5N +5 G>A (rs3812718), and febrile seizures (FS). 20477842 2010
Drug Resistant Epilepsy
CUI: C1096063
Disease: Drug Resistant Epilepsy
0.010 GeneticVariation BEFREE Overall, our findings demonstrate an association of SCN1A IVS5-91 rs3812718 G>A polymorphism with AED responsiveness in monotherapy without evidence of an effect on drug-resistant epilepsy. 28144265 2017
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.010 GeneticVariation BEFREE The study validated gender-dependent association between genomic SCN1A rs3812718 polymorphism and TTR in CRC patients treated with adjuvant 5-FU-based chemotherapy. 23752739 2014
SPHEROCYTOSIS, TYPE 1 (disorder)
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
0.010 GeneticVariation BEFREE While we observed no significant difference in allele and genotype frequencies of rs3812718 between MTLE-HS patients with and without FS, A allele and AA genotype were overrepresented in MTLE-HS patients when compared to controls. 22578703 2012
Epilepsy, Temporal Lobe
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
0.010 GeneticVariation BEFREE Failure to find association between febrile seizures and SCN1A rs3812718 polymorphism in south Indian patients with mesial temporal lobe epilepsy and hippocampal sclerosis. 22578703 2012
Epilepsies, Partial
CUI: C0014547
Disease: Epilepsies, Partial
0.010 GeneticVariation BEFREE The results of the present study indicate that the rs3812718 SNP in the SCN1A gene is significantly associated with the retention rate of CBZ monotherapy in Chinese Han patients with focal epilepsy. 22292851 2012
Hippocampal sclerosis
CUI: C1504404
Disease: Hippocampal sclerosis
0.010 GeneticVariation BEFREE Failure to find association between febrile seizures and SCN1A rs3812718 polymorphism in south Indian patients with mesial temporal lobe epilepsy and hippocampal sclerosis. 22578703 2012