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: 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: rs786204963
rs786204963 		0.925 0.080 X 18588055 missense variant A/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 17 2004 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: 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: rs281865352
rs281865352 		0.925 0.040 X 18642101 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: rs281865354
rs281865354 		0.925 0.040 X 18642090 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: rs281865360
rs281865360 		0.925 0.040 X 18642058 missense variant G/A;C;T 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: rs281865362
rs281865362 		0.882 0.040 X 18642053 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: rs281865364
rs281865364 		0.925 0.040 X 18642041 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