rs281865071, CHRNB2

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Epilepsy, Nocturnal Frontal Lobe, Type 4
CUI: C1835905
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 4
0.700 CausalMutation CLINVAR
Memory impairment
CUI: C0233794
Disease: Memory impairment
0.020 GeneticVariation BEFREE Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor. 18534914 2008
Memory impairment
CUI: C0233794
Disease: Memory impairment
0.020 GeneticVariation BEFREE The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits. 15964197 2005
Forgetful
CUI: C0542476
Disease: Forgetful
0.010 GeneticVariation BEFREE Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor. 18534914 2008
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
0.010 GeneticVariation BEFREE Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor. 18534914 2008
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.010 GeneticVariation BEFREE The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits. 15964197 2005