rs267608472, CDKL5

N. diseases: 3
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 0.882 0.160 X 18579965 stop gained C/T snv 0.700 0
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
39 0.882 0.160 X 18579965 stop gained C/T snv 0.010 1.000 1 2012 2012
West Syndrome
CUI: C0037769
Disease: West Syndrome
28 0.882 0.160 X 18579965 stop gained C/T snv 0.010 1.000 1 2012 2012