rs267608553, 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.
Cyclin-dependent kinase-like 5 deficiency
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
116 1.000 0.160 X 18603900 splice acceptor variant A/G snv 0.700 0