rs1057518759, CDKL5

N. diseases: 2
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.
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 1.000 0.040 X 18604394 frameshift variant -/GC delins 0.700 0
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 1.000 0.040 X 18604394 frameshift variant -/GC delins 0.700 0