DisGeNET - a database of gene-disease associations

List of associated variants

Retinoschisis, C0152439

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs281865365	CDKL5 ; RS1	0.882	0.040	X	18642042	missense variant	G/A;T	snv			3
rs61752144	CDKL5 ; RS1	0.882	0.040	X	18644616	missense variant	C/A;G	snv			3
rs104894928	RS1 ; CDKL5	0.882	0.040	X	18647303	missense variant	C/G;T	snv	1.1E-05		3
rs104894930	RS1 ; CDKL5	0.882	0.040	X	18642071	missense variant	G/A	snv			3
rs281865352	CDKL5 ; RS1	0.925	0.040	X	18642101	missense variant	G/A	snv			2
rs61752147	RS1 ; CDKL5	1.000	0.040	X	18644586	stop gained	C/G;T	snv			1