rs267608421, 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.
Cyclin-dependent kinase-like 5 deficiency
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
116 0.925 0.160 X 18510855 splice donor variant G/T snv 0.700 0
West Syndrome
CUI: C0037769
Disease: West Syndrome
28 0.925 0.160 X 18510855 splice donor variant G/T snv 0.700 0