DisGeNET - a database of gene-disease associations

List of associated variants

Adult Neuronal Ceroid Lipofuscinosis, C0022797

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
rs387907043	DNAJC5	0.925	0.120	20	63930873	missense variant	T/A;G	snv	4.0E-06		3
rs63750391	PSEN1	0.882	0.160	14	73173665	missense variant	G/A;C;T	snv			3
rs154774633	CLN6	0.925	0.120	15	68214387	missense variant	A/G	snv			2
rs154774636	CLN6	0.925	0.120	15	68229568	missense variant	C/G	snv			2
rs154774634	CLN6	1.000	0.120	15	68211853	missense variant	C/T	snv	1.6E-05	2.1E-05	1
rs154774635	CLN6	1.000	0.120	15	68218595	missense variant	G/A	snv			1
rs154774638	CLN6	1.000	0.120	15	68211715	missense variant	C/T	snv	3.2E-05	2.8E-05	1
rs154774641	CLN6	1.000	0.120	15	68214356	missense variant	G/C;T	snv			1
rs765758974	CTSF	1.000	0.120	11	66567559	stop gained	G/A;T	snv	4.0E-06; 2.8E-05		1