Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61749721
rs61749721
MECP2
0.020 GeneticVariation BEFREE The p.R255X mutation conferred an increased risk for epilepsy (OR 2.07, CI 95% 1.2-3.59) as well as for severe epilepsy (OR 3.4, CI 95% 1.6-7.3). 25789914

2015
dbSNP: rs61749721
rs61749721
MECP2
0.020 GeneticVariation BEFREE MECP2 mutations most frequently associated with epilepsy were T158M (74%) and R106W (78%), and less frequently R255X and R306C (both 49%). 20231667

2010