rs199542988, FOXRED1

N. diseases: 2
Disease: Epilepsy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.010 GeneticVariation BEFREE We identified a homozygous missense mutation, c.1308 G→A (p.V421M) in FOXRED1 in a patient who presented with epilepsy and severe psychomotor retardation. 27215383 2016