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: 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: 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: 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: rs1555951954
rs1555951954 		X 18604030 frameshift variant AAACCTTGCTGGAG/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 17 2004 2016
dbSNP: rs1555951981
rs1555951981 		1.000 X 18604131 frameshift variant -/AC delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 17 2004 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: rs281865345
rs281865345 		1.000 X 18647191 missense variant C/T snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 1.000 13 1997 2016
dbSNP: rs281865351
rs281865351 		1.000 X 18642102 missense variant G/A snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 1.000 13 1997 2016
dbSNP: rs281865356
rs281865356 		1.000 X 18642083 missense variant A/G snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 1.000 13 1997 2016
dbSNP: rs281865357
rs281865357 		1.000 X 18642081 missense variant G/A snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 1.000 13 1997 2016
dbSNP: rs281865358
rs281865358 		1.000 X 18642080 missense variant C/T snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 1.000 13 1997 2016
dbSNP: rs281865367
rs281865367 		1.000 X 18642036 missense variant C/G;T snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 1.000 13 1997 2016
dbSNP: rs281865368
rs281865368 		1.000 X 18642032 missense variant A/G snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 1.000 13 1997 2016
dbSNP: rs281865369
rs281865369 		1.000 X 18642024 missense variant A/C;G snv 5.5E-06
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 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: rs61752065
rs61752065 		1.000 X 18647224 missense variant G/T snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 1.000 13 1997 2016
dbSNP: rs61752069
rs61752069 		1.000 X 18647209 missense variant A/C snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 1.000 13 1997 2016
dbSNP: rs61752075
rs61752075 		1.000 X 18644623 missense variant C/T snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 1.000 13 1997 2016
dbSNP: rs61752145
rs61752145 		1.000 X 18644615 missense variant G/A snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 1.000 13 1997 2016
dbSNP: rs61752149
rs61752149 		1.000 X 18644572 missense variant A/G snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 1.000 13 1997 2016
dbSNP: rs61752152
rs61752152 		1.000 X 18644548 missense variant C/A;G snv 5.4E-06
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 1.000 13 1997 2016
dbSNP: rs61752153
rs61752153 		1.000 X 18644545 missense variant A/G snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 1.000 13 1997 2016
dbSNP: rs61752154
rs61752154 		1.000 X 18644540 missense variant T/C snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 1.000 13 1997 2016