rs1057519542, CDKL5

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.
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 1.000 0.040 X 18604372 frameshift variant -/GACC delins 0.700 0