rs796052839, PCDH19

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
44 0.882 0.200 X 100407579 missense variant T/C;G snv 0.800 1.000 17 1990 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
43 0.882 0.200 X 100407579 missense variant T/C;G snv 0.010 1.000 1 2012 2012
Infantile Severe Myoclonic Epilepsy
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
32 0.882 0.200 X 100407579 missense variant T/C;G snv 0.010 1.000 1 2012 2012