rs753757730, 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 100408027 missense variant C/G;T snv 5.6E-06; 5.6E-06 0.700 1.000 12 2008 2016