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: rs281865365
rs281865365 		0.882 0.040 X 18642042 missense variant G/A;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: 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: 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: rs61752072
rs61752072 		0.925 0.040 X 18647194 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: rs61752144
rs61752144 		0.882 0.040 X 18644616 missense variant C/A;G 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
dbSNP: rs61752156
rs61752156 		1.000 X 18644534 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: rs61752157
rs61752157 		1.000 X 18644533 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: rs61752158
rs61752158 		1.000 X 18644531 missense variant G/A;C snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 1.000 13 1997 2016
dbSNP: rs61753161
rs61753161 		1.000 X 18644524 missense variant T/A snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 1.000 13 1997 2016
dbSNP: rs61753162
rs61753162 		1.000 X 18644516 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: rs61753163
rs61753163 		1.000 X 18644514 missense variant C/G snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 1.000 13 1997 2016
dbSNP: rs61753165
rs61753165 		1.000 X 18644488 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
dbSNP: rs61753166
rs61753166 		1.000 X 18644463 stop gained C/A;T snv
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		0.700 1.000 13 1997 2016
dbSNP: rs61753169
rs61753169 		1.000 X 18642146 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