Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909580
rs121909580
CHRNA4
0.030 GeneticVariation BEFREE To examine possible mechanisms underlying this inherited epilepsy, we engineered two ADNFLE mutations (Chrna4(S252F) and Chrna4(+L264)) in mice. 17146052

2006
dbSNP: rs121909580
rs121909580
CHRNA4
0.030 GeneticVariation BEFREE Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene. 10448807

1999
dbSNP: rs121909580
rs121909580
CHRNA4
0.030 GeneticVariation BEFREE SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the Italian ADNFLE population. 10450598

1999