CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: West Syndrome ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555952078
rs1555952078 		1.000 0.040 X 18604516 frameshift variant C/- delins
CUI: C0037769
Disease: West Syndrome
West Syndrome 		Nervous System Diseases 0.700 0
dbSNP: rs1555954752
rs1555954752 		1.000 0.040 X 18625224 frameshift variant -/CAGATCT delins
CUI: C0037769
Disease: West Syndrome
West Syndrome 		Nervous System Diseases 0.700 0
dbSNP: rs267608421
rs267608421 		0.925 0.160 X 18510855 splice donor variant G/T snv
CUI: C0037769
Disease: West Syndrome
West Syndrome 		Nervous System Diseases 0.700 0
dbSNP: rs267608618
rs267608618 		0.925 0.160 X 18604162 stop gained C/A;G snv
CUI: C0037769
Disease: West Syndrome
West Syndrome 		Nervous System Diseases 0.700 0
dbSNP: rs267608472
rs267608472 		0.882 0.160 X 18579965 stop gained C/T snv
CUI: C0037769
Disease: West Syndrome
West Syndrome 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs267608493
rs267608493 		0.827 0.200 X 18584331 missense variant C/A;T snv
CUI: C0037769
Disease: West Syndrome
West Syndrome 		Nervous System Diseases 0.010 1.000 1 2012 2012