rs72823592, COPZ2

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.800 GeneticVariation GWASCAT Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. 22949513 2012
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.800 GeneticVariation GWASDB Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. 22949513 2012
Epilepsy, Generalized
CUI: C0014548
Disease: Epilepsy, Generalized
0.010 GeneticVariation BEFREE This sequence change has been reported in the 1000 Genomes project suggesting it could be a polymorphism but alternatively it could be a common mutation, perhaps responsible for the susceptibility locus for genetic generalized epilepsy on 17q21.32 (close to rs72823592). 24645144 2014