rs772253190, CHRNA4

N. diseases: 1
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
0.010 GeneticVariation BEFREE Mutation analysis of the CHRNB2 gene revealed a c.859G>A transition (Val287Met) within the second transmembrane domain, identical to that previously described in a Scottish ADNFLE family. 17900292 2008