Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779136255
rs779136255
PCDH19
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		ACCTCTTTCCCCTTAGGCTCACTTTCTC 0.700 GeneticVariation CLINVAR Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. 21053371

2011