DisGeNET - a database of gene-disease associations

List of associated variants

Neuronal Ceroid-Lipofuscinoses, C0027877

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
rs137852695	PPT1	0.925	0.120	1	40091398	missense variant	T/A	snv	7.0E-04	6.0E-04	4
rs137852700	PPT1	0.851	0.120	1	40089495	stop gained	G/A;C	snv	2.4E-04; 1.2E-05		4
rs137852696	PPT1	0.882	0.120	1	40092409	missense variant	T/G	snv	1.6E-05	5.6E-05	3
rs386833634	PPT1	0.925	0.120	1	40092462	frameshift variant	-/T	delins	3.2E-05; 4.0E-06; 4.0E-06	1.4E-05	2
rs386833645	PPT1	0.925	0.120	1	40097236	start lost	C/T	snv		1.4E-05	2
rs386833651	PPT1	0.925	0.120	1	40089409	splice donor variant	C/T	snv			2
rs386833659	PPT1	0.925	0.120	1	40078659	splice acceptor variant	C/A;T	snv	4.0E-06		2
rs140948465	MFSD8	0.925	0.120	4	127930800	missense variant	G/A;T	snv	4.0E-06; 8.0E-06		2
rs587778809	MFSD8	0.925	0.120	4	127938781	splice donor variant	A/T	snv	8.0E-06	2.8E-05	2
rs750033880	KCTD7	0.925	0.120	7	66633302	missense variant	G/A	snv		1.4E-05	3
rs587779411	CLN8	0.851	0.160	8	1780498	missense variant	C/G;T	snv	4.0E-06		5
rs104894060	CLN8	0.882	0.120	8	1780316	missense variant	C/T	snv	3.2E-05	7.0E-06	3
rs104894064	CLN8	0.882	0.120	8	1771124	missense variant	C/G;T	snv	1.0E-04; 2.4E-05		3
rs144495588	CLN8	0.925	0.120	8	1771553	stop gained	G/C;T	snv	8.0E-06; 1.2E-05		2
rs56144125	TPP1	0.827	0.240	11	6617154	splice acceptor variant	C/A;G;T	snv	4.0E-04; 1.2E-05		6
rs1564855725	TPP1	0.882	0.160	11	6617621	splice region variant	C/T	snv			5
rs119455955	TPP1	0.851	0.120	11	6617040	stop gained	G/A	snv	2.2E-04	2.4E-04	4
rs119455957	TPP1	0.882	0.120	11	6616696	missense variant	C/A	snv	8.0E-06	7.0E-06	3
rs756564767	TPP1	0.882	0.120	11	6617627	stop gained	G/A	snv	6.4E-05	4.2E-05	3
rs113019349	TPP1	0.925	0.120	11	6616004	splice donor variant	C/G;T	snv			2
rs119455954	TPP1	0.925	0.120	11	6616056	missense variant	C/T	snv	1.6E-05	4.9E-05	2
rs121908199	TPP1	0.925	0.120	11	6615542	missense variant	C/T	snv			2
rs121908200	TPP1	0.925	0.120	11	6615442	missense variant	C/G	snv	2.0E-05	2.1E-05	2
rs121908202	TPP1	0.925	0.120	11	6615172	missense variant	G/A	snv	2.4E-05		2
rs121908209	TPP1	0.925	0.120	11	6617045	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		2