CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
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: rs61752068
rs61752068 		0.925 0.040 X 18647212 missense variant C/T snv 5.5E-06 9.6E-06
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.800 1.000 25 1997 2016
dbSNP: rs61753174
rs61753174 		0.925 0.040 X 18642105 missense variant G/A;T snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.800 1.000 24 1997 2016
dbSNP: rs281865361
rs281865361 		1.000 X 18642054 missense variant G/A;C snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.800 1.000 21 1997 2017
dbSNP: rs104894930
rs104894930 		0.882 0.040 X 18642071 missense variant G/A snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.800 1.000 20 1997 2016
dbSNP: rs281865355
rs281865355 		1.000 X 18642089 missense variant C/G;T snv 5.5E-06
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.800 1.000 20 1997 2017
dbSNP: rs61752060
rs61752060 		1.000 X 18647251 missense variant T/C snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.800 1.000 20 1997 2016
dbSNP: rs61752159
rs61752159 		0.925 0.040 X 18644530 missense variant C/T snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.800 1.000 20 1997 2016
dbSNP: rs62645894
rs62645894 		1.000 X 18647309 missense variant C/G;T snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.800 1.000 19 1997 2016
dbSNP: rs104894928
rs104894928 		0.882 0.040 X 18647303 missense variant C/G;T snv 1.1E-05
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.800 1.000 13 1997 2016
dbSNP: rs104894929
rs104894929 		1.000 X 18642012 missense variant A/G snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.800 1.000 13 1997 2016
dbSNP: rs104894932
rs104894932 		1.000 X 18647301 missense variant C/G;T snv 5.5E-06
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.800 1.000 13 1997 2016
dbSNP: rs104894933
rs104894933 		0.925 0.040 X 18647296 missense variant C/A snv 9.5E-06
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.800 1.000 13 1997 2016
dbSNP: rs104894934
rs104894934 		0.925 0.040 X 18647192 missense variant C/A;G snv 1.6E-05
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.800 1.000 13 1997 2016
dbSNP: rs61752063
rs61752063 		1.000 X 18647231 missense variant A/G snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.800 1.000 13 1997 2016
dbSNP: rs61752067
rs61752067 		0.925 0.040 X 18647213 missense variant G/A snv 5.5E-06
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.800 1.000 13 1997 2016
dbSNP: rs62653623
rs62653623 		0.851 0.240 X 18575383 stop gained C/T snv
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
Cyclin-dependent kinase-like 5 deficiency 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.710 1.000 1 2019 2019
dbSNP: rs267608468
rs267608468 		0.925 0.080 X 18579945 missense variant A/G snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.700 1.000 18 2003 2017
dbSNP: rs267608493
rs267608493 		0.827 0.200 X 18584331 missense variant C/A;T snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.700 1.000 18 2003 2017
dbSNP: rs267608501
rs267608501 		0.882 0.160 X 18587986 missense variant C/T snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.700 1.000 18 2003 2017
dbSNP: rs267608511
rs267608511 		0.925 0.160 X 18588058 missense variant T/C snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.700 1.000 18 2003 2017
dbSNP: rs267608611
rs267608611 		1.000 0.040 X 18604120 missense variant A/C snv 1.1E-05 9.5E-06
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.700 1.000 18 2003 2017
dbSNP: rs61749700
rs61749700 		0.882 0.200 X 18584324 missense variant A/T snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.700 1.000 18 2003 2017
dbSNP: rs61749704
rs61749704 		0.925 0.160 X 18584338 missense variant C/T snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.700 1.000 18 2003 2017
dbSNP: rs773760466
rs773760466 		1.000 0.040 X 18628446 missense variant C/T snv 3.8E-05 1.9E-05
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.700 1.000 18 2003 2017
dbSNP: rs866859766
rs866859766 		1.000 0.040 X 18650592 missense variant G/A;T snv 5.5E-06; 5.5E-06
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.700 1.000 18 2003 2017