Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs25409
rs25409
GABRB3 ; LOC112268151
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.020 GeneticVariation BEFREE We report that maternal transmission of a GABRB3 signal peptide variant (P11S), previously implicated in childhood absence epilepsy, is associated with autism. 19935738

2011
dbSNP: rs25409
rs25409
GABRB3 ; LOC112268151
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.020 GeneticVariation BEFREE One heterozygous missense mutation (P11S) in exon 1a segregated with four CAE-affected persons in one multiplex, two-generation Mexican family. 18514161

2008