rs267608437, 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 0.200 X 18575407 missense variant C/T snv 0.700 0
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
368 0.925 0.200 X 18575407 missense variant C/T snv 0.700 0