Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs769967221
rs769967221
PCDH19
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		A 0.700 CausalMutation CLINVAR Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy. 22946748

2012