rs1217691063, MTHFR

N. diseases: 614
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Seizures
CUI: C0036572
Disease: Seizures
0.030 GeneticVariation BEFREE The aim of the study was to determine the incidence of interictal epileptiform discharges on electroencephalography (EEG) in asymptomatic children with C677T and A1298C polymorphisms who had no history of seizure. 31734877 2020
Seizures
CUI: C0036572
Disease: Seizures
0.030 GeneticVariation BEFREE Our study suggests that heterozygous variants of MTHFR (C677T and A1298C) gene are associated with poor seizure control in Pakhtun population of KP despite the fact that plasma level of carbamazepine were found within the therapeutic range. 30442198 2018
Seizures
CUI: C0036572
Disease: Seizures
0.030 GeneticVariation BEFREE The well-studied C677T variant in the methylenetetrahydrofolate reductase (MTHFR) enzyme is a biologically plausible genetic risk factor for seizures or epilepsy. 21787169 2011