rs1131691646, PCDH19

N. diseases: 1
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 1.000 0.200 X 100407077 frameshift variant G/-;GG delins 0.700 1.000 2 2010 2012