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
rs386833659	PPT1	0.925	0.120	1	40078659	splice acceptor variant	C/A;T	snv	4.0E-06		2
rs121908200	TPP1	0.925	0.120	11	6615442	missense variant	C/G	snv	2.0E-05	2.1E-05	2
rs587779411	CLN8	0.851	0.160	8	1780498	missense variant	C/G;T	snv	4.0E-06		5
rs104894064	CLN8	0.882	0.120	8	1771124	missense variant	C/G;T	snv	1.0E-04; 2.4E-05		3
rs113019349	TPP1	0.925	0.120	11	6616004	splice donor variant	C/G;T	snv			2
rs121908209	TPP1	0.925	0.120	11	6617045	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		2
rs746085696	TPP1	1.000	0.120	11	6619191	splice region variant	C/G;T	snv	4.0E-06		1
rs1564855725	TPP1	0.882	0.160	11	6617621	splice region variant	C/T	snv			5
rs104894060	CLN8	0.882	0.120	8	1780316	missense variant	C/T	snv	3.2E-05	7.0E-06	3
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
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
rs386833695	CLN3	0.925	0.120	16	28482160	missense variant	C/T	snv	2.4E-05	2.1E-05	2
rs546989392	CLN5 ; FBXL3	0.925	0.120	13	76996010	stop gained	C/T	snv	2.0E-05	7.7E-05	2
rs765380155	TPP1	0.925	0.120	11	6616374	missense variant	C/T	snv	4.0E-06	1.4E-05	2
rs786204753	TPP1	0.925	0.120	11	6615217	stop gained	C/T	snv			2
rs587776892	DNAJC5	0.925	0.120	20	63930871	inframe deletion	CTC/-	delins			2
rs794729218	FBXL3 ; CLN5	1.000	0.120	13	76995933	frameshift variant	G/-	del			1
rs119455955	TPP1	0.851	0.120	11	6617040	stop gained	G/A	snv	2.2E-04	2.4E-04	4
rs750033880	KCTD7	0.925	0.120	7	66633302	missense variant	G/A	snv		1.4E-05	3
rs756564767	TPP1	0.882	0.120	11	6617627	stop gained	G/A	snv	6.4E-05	4.2E-05	3
rs121908202	TPP1	0.925	0.120	11	6615172	missense variant	G/A	snv	2.4E-05		2
rs28940280	FBXL3 ; CLN5	0.925	0.120	13	77000580	missense variant	G/A	snv	8.0E-06		2
rs386833709	CLN3	0.925	0.120	16	28489298	stop gained	G/A	snv		1.4E-05	2